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	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	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	ref_context	gc_content	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
NOC2L	26155	broad.mit.edu	37	1	889226	889226	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:889226C>T	uc001abz.3	-	8	883	c.824G>A	c.(823-825)CGG>CAG	p.R275Q	NOC2L_uc001aby.3_Missense_Mutation_p.R72Q|NOC2L_uc009vjq.2_Missense_Mutation_p.R275Q	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog	275						nucleolus	protein binding			ovary(1)|skin(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCTGATGTGCCGCAGCACGGC	0.622000												
KIF1B	23095	broad.mit.edu	37	1	10336421	10336421	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:10336421C>T	uc001aqx.3	+	12	1203	c.1001C>T	c.(1000-1002)GCG>GTG	p.A334V	KIF1B_uc001aqv.3_Missense_Mutation_p.A328V|KIF1B_uc001aqw.3_Missense_Mutation_p.A328V|KIF1B_uc001aqy.2_Missense_Mutation_p.A334V|KIF1B_uc001aqz.2_Missense_Mutation_p.A334V|KIF1B_uc001ara.2_Missense_Mutation_p.A334V|KIF1B_uc001arb.2_Missense_Mutation_p.A334V	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	334	Kinesin-motor.|Interaction with KBP.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTGAGCCCCGCGGATATCAAC	0.398000												
MCOLN2	255231	broad.mit.edu	37	1	85431387	85431387	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:85431387C>A	uc001dkm.2	-	2	323	c.82G>T	c.(82-84)GCA>TCA	p.A28S	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	28						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TGTGCCATTGCATTTCTGCCA	0.408000												
CGN	57530	broad.mit.edu	37	1	151497219	151497219	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:151497219A>G	uc009wmw.2	+	8	1615	c.1471A>G	c.(1471-1473)AGG>GGG	p.R491G		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	485	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAGCAGCTGAGGCTGCGGGA	0.587000												
LCE1C	353133	broad.mit.edu	37	1	152777707	152777707	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:152777707C>T	uc001fap.1	-	2	299	c.248G>A	c.(247-249)CGT>CAT	p.R83H		NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	83	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGGGACCTACGGCGCCTGTG	0.706000												
NES	10763	broad.mit.edu	37	1	156645073	156645073	+	Silent	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:156645073G>A	uc001fpq.2	-	2	976	c.843C>T	c.(841-843)GTC>GTT	p.V281V		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	281	Coil 2B.|Rod.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GACCTTCCAGGACCTGAGCGA	0.652000												
CD5L	922	broad.mit.edu	37	1	157804319	157804319	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:157804319T>C	uc001frk.3	-	4	739	c.596A>G	c.(595-597)AAA>AGA	p.K199R		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	199	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCAGATGGGTTTTCGGCCATA	0.582000												
CD5L	922	broad.mit.edu	37	1	157804432	157804432	+	Silent	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:157804432G>A	uc001frk.3	-	4	626	c.483C>T	c.(481-483)ACC>ACT	p.T161T		NM_005894	NP_005885	O43866	CD5L_HUMAN	CD5 molecule-like precursor	161	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			ovary(1)	1	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTGGCACACGGTATACCACT	0.612000												
TNR	7143	broad.mit.edu	37	1	175324675	175324675	+	Silent	SNP	A	A	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:175324675A>G	uc001gkp.1	-	15	3294	c.3213T>C	c.(3211-3213)TAT>TAC	p.Y1071Y	TNR_uc009wwu.1_Silent_p.Y1071Y	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1071	Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					AGGTCAAGACATAATTTTCAA	0.507000												
ASTN1	460	broad.mit.edu	37	1	176903398	176903398	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:176903398T>C	uc001glc.2	-	16	2773	c.2561A>G	c.(2560-2562)AAC>AGC	p.N854S	ASTN1_uc001glb.1_Missense_Mutation_p.N854S|ASTN1_uc001gld.1_Missense_Mutation_p.N854S	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	862					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						GATGTAATGGTTGCCGAACTG	0.542000												
CFH	3075	broad.mit.edu	37	1	196694307	196694307	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:196694307G>A	uc001gtj.3	+	12	1993	c.1753G>A	c.(1753-1755)GAC>AAC	p.D585N		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	585	Sushi 10.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TCGCAAGAAAGACCAGTATAA	0.353000												
SUSD4	55061	broad.mit.edu	37	1	223465898	223465898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:223465898G>A	uc001hnx.2	-	2	878	c.244C>T	c.(244-246)CGA>TGA	p.R82*	SUSD4_uc001hny.3_Nonsense_Mutation_p.R82*|SUSD4_uc010puw.1_5'UTR|SUSD4_uc001hnz.2_Nonsense_Mutation_p.R82*|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	82	Sushi 1.|Extracellular (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		CAGTGAAATCGGGCTACAGAG	0.512000												
OBSCN	84033	broad.mit.edu	37	1	228475397	228475397	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:228475397C>T	uc009xez.1	+	36	9591	c.9547C>T	c.(9547-9549)CGG>TGG	p.R3183W	OBSCN_uc001hsn.2_Missense_Mutation_p.R3183W|OBSCN_uc001hsq.1_Missense_Mutation_p.R439W	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3183	Ig-like 31.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				GTCTGCAGCGCGGCCAGTGCG	0.657000												
PCNXL2	80003	broad.mit.edu	37	1	233393811	233393811	+	Silent	SNP	G	G	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:233393811G>C	uc001hvl.2	-	5	2032	c.1797C>G	c.(1795-1797)GGC>GGG	p.G599G	PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	599						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTCAGCTGAGCCATTCAGTT	0.443000												
OR14C36	127066	broad.mit.edu	37	1	248512867	248512867	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:248512867C>T	uc010pzl.1	+	1	791	c.791C>T	c.(790-792)CCT>CTT	p.P264L		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3						CCTGCGATACCTGCAGCCACC	0.463000												
MEIG1	644890	broad.mit.edu	37	10	15014613	15014613	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:15014613C>T	uc009xjk.1	+	3	388	c.240C>T	c.(238-240)GTC>GTT	p.V80V		NM_001080836	NP_001074305	Q5JSS6	MEIG1_HUMAN	meiosis expressed gene 1 homolog	80											0						ACAAAGAAGTCCACAAAGTGA	0.353000												
PLXDC2	84898	broad.mit.edu	37	10	20500613	20500613	+	Silent	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:20500613T>C	uc001iqg.1	+	10	1714	c.1077T>C	c.(1075-1077)TTT>TTC	p.F359F	PLXDC2_uc001iqh.1_Silent_p.F310F|PLXDC2_uc009xkc.1_Intron	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	plexin domain containing 2 precursor	359	Extracellular (Potential).|PSI.					integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4						CCAGTGGATTTGATCGTCATC	0.448000												
ZEB1	6935	broad.mit.edu	37	10	31816022	31816022	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:31816022G>A	uc001ivs.3	+	9	3268	c.3205G>A	c.(3205-3207)GAG>AAG	p.E1069K	ZEB1_uc001ivr.3_Missense_Mutation_p.E851K|ZEB1_uc010qee.1_Missense_Mutation_p.E851K|ZEB1_uc010qef.1_Missense_Mutation_p.E851K|ZEB1_uc001ivt.3_Missense_Mutation_p.E851K|ZEB1_uc001ivu.3_Missense_Mutation_p.E1070K|ZEB1_uc001ivv.3_Missense_Mutation_p.E1049K|ZEB1_uc010qeh.1_Missense_Mutation_p.E1002K|ZEB1_uc009xlp.2_Missense_Mutation_p.E1053K	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	1069	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				ggaggaggaggaggaagaagt	0.114000												
TMEM72	643236	broad.mit.edu	37	10	45430170	45430170	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:45430170C>A	uc001jbn.2	+	5	613	c.416C>A	c.(415-417)GCC>GAC	p.A139D	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.A21D	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	139						integral to membrane					0						AGGAAAGCTGCCCCCGAGGTG	0.592000												
ZWINT	11130	broad.mit.edu	37	10	58118593	58118593	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:58118593G>A	uc001jjx.1	-	6	633	c.596C>T	c.(595-597)GCA>GTA	p.A199V	ZWINT_uc001jjy.1_Intron|ZWINT_uc001jka.1_Missense_Mutation_p.A199V|ZWINT_uc009xoy.1_RNA	NM_007057	NP_008988	O95229	ZWINT_HUMAN	ZW10 interactor isoform a	199	Potential.				cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding				0						CTCCTGTTCTGCCTGCTGCTT	0.537000												
CCAR1	55749	broad.mit.edu	37	10	70547722	70547722	+	Silent	SNP	T	T	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:70547722T>G	uc001joo.2	+	22	3038	c.2919T>G	c.(2917-2919)TCT>TCG	p.S973S	CCAR1_uc010qiz.1_Silent_p.S958S|CCAR1_uc010qjb.1_RNA	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	cell-cycle and apoptosis regulatory protein 1	973					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			ovary(6)|large_intestine(1)	7						TCCGTGAATCTTGCTTTTACC	0.348000												
AVPI1	60370	broad.mit.edu	37	10	99439503	99439503	+	Missense_Mutation	SNP	G	G	C	rs147898720		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:99439503G>C	uc001koh.1	-	2	271	c.160C>G	c.(160-162)CGG>GGG	p.R54G	AVPI1_uc001koi.2_Missense_Mutation_p.R54G	NM_021732	NP_068378	Q5T686	AVPI1_HUMAN	vasopressin-induced protein, 32kDa	54					cell cycle					breast(1)	1		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		ATCTGTGCCCGTTCCTCGGCC	0.662000												
C10orf137	26098	broad.mit.edu	37	10	127427012	127427012	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:127427012A>C	uc001liq.1	+	15	2272	c.1979A>C	c.(1978-1980)AAA>ACA	p.K660T	C10orf137_uc001lin.2_Missense_Mutation_p.K626T|C10orf137_uc001lio.1_Missense_Mutation_p.K626T|C10orf137_uc001lip.1_Missense_Mutation_p.K364T|C10orf137_uc001lir.2_Missense_Mutation_p.K154T|C10orf137_uc001lis.1_5'Flank	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTTTGGACAAAAGTAAGTTG	0.418000												
OR51G2	81282	broad.mit.edu	37	11	4936037	4936037	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:4936037A>C	uc001lzr.1	-	1	857	c.857T>G	c.(856-858)CTT>CGT	p.L286R		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	286	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGAAAGAGAAGATACATGAA	0.498000												
OR51G2	81282	broad.mit.edu	37	11	4936528	4936528	+	Silent	SNP	A	A	G	rs142042736	byFrequency	TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:4936528A>G	uc001lzr.1	-	1	366	c.366T>C	c.(364-366)TCT>TCC	p.S122S		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	122	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAAGGCCATAGACAGTAGCA	0.502000												
APBB1	322	broad.mit.edu	37	11	6422615	6422615	+	Silent	SNP	G	G	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:6422615G>T	uc001mdb.1	-	10	1648	c.1548C>A	c.(1546-1548)CTC>CTA	p.L516L	APBB1_uc001mcz.1_Silent_p.L135L|APBB1_uc001mdd.3_Silent_p.L294L|APBB1_uc001mda.2_Silent_p.L41L|APBB1_uc001mdc.1_Silent_p.L514L|APBB1_uc010rab.1_Silent_p.L41L|APBB1_uc010rac.1_RNA|APBB1_uc010rad.1_Silent_p.L233L	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	516					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(2)	2		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTCCAGGGAGAGTCCATTTA	0.547000												
C11orf41	25758	broad.mit.edu	37	11	33572687	33572687	+	Silent	SNP	G	G	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:33572687G>T	uc001mup.3	+	4	2854	c.2730G>T	c.(2728-2730)GTG>GTT	p.V910V	C11orf41_uc001mun.1_Silent_p.V910V	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	904						integral to membrane				ovary(2)	2						TGCTGGGTGTGTATGGAGTCA	0.493000												
OR5T3	390154	broad.mit.edu	37	11	56020329	56020329	+	Silent	SNP	T	T	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:56020329T>G	uc010rjd.1	+	1	654	c.654T>G	c.(652-654)TCT>TCG	p.S218S		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T,	218	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398000												
OR5B2	390190	broad.mit.edu	37	11	58189920	58189920	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:58189920G>C	uc010rkg.1	-	1	815	c.815C>G	c.(814-816)GCA>GGA	p.A272G		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	272	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAACACAGATGCCATTTTGTC	0.488000												
NADSYN1	55191	broad.mit.edu	37	11	71208604	71208604	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:71208604A>T	uc001oqn.2	+	19	1966	c.1840A>T	c.(1840-1842)AGC>TGC	p.S614C	NADSYN1_uc001oqo.2_Missense_Mutation_p.S354C|NADSYN1_uc001oqp.2_Missense_Mutation_p.S243C	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	NAD synthetase 1	614	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			ovary(2)	2					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGGGCCCTACAGCATGTTCTG	0.522000												
APOA4	337	broad.mit.edu	37	11	116692384	116692384	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:116692384C>T	uc001pps.1	-	3	494	c.390G>A	c.(388-390)GAG>GAA	p.E130E		NM_000482	NP_000473			apolipoprotein A-IV precursor												0	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		gctgctgaagctctcgcaggt	0.284000												
MCAM	4162	broad.mit.edu	37	11	119183298	119183298	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:119183298C>T	uc001pwf.2	-	7	829	c.800G>A	c.(799-801)CGC>CAC	p.R267H	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	267	Ig-like C2-type 1.|Extracellular (Potential).				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane		p.R267H(1)		ovary(2)|breast(1)|central_nervous_system(1)	4		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GATTTCCACGCGGTCCCCTTC	0.577000												
OR10G4	390264	broad.mit.edu	37	11	123886393	123886393	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:123886393C>T	uc010sac.1	+	1	112	c.112C>T	c.(112-114)CTG>TTG	p.L38L		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCTCACTGTGCTGGGGAACCT	0.562000												
FLI1	2313	broad.mit.edu	37	11	128679074	128679074	+	Silent	SNP	G	G	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:128679074G>T	uc010sbu.1	+	8	1145	c.804G>T	c.(802-804)CCG>CCT	p.P268P	FLI1_uc010sbt.1_Silent_p.P75P|FLI1_uc010sbv.1_Silent_p.P235P|FLI1_uc009zci.2_Silent_p.P202P	NM_002017	NP_002008	Q01543	FLI1_HUMAN	Friend leukemia virus integration 1	268					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2266)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TCCTGGGCCCGACCAGCAGTC	0.423000			T	EWSR1	Ewing sarcoma							
FAM90A1	55138	broad.mit.edu	37	12	8375360	8375360	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr12:8375360C>T	uc001qui.2	-	7	1012	c.453G>A	c.(451-453)CCG>CCA	p.P151P	FAM90A1_uc001quh.2_Silent_p.P151P	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	151							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		TTGTGTGGACCGGCATTGGCC	0.527000												
KRT5	3852	broad.mit.edu	37	12	52912853	52912853	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr12:52912853T>A	uc001san.2	-	2	810	c.647A>T	c.(646-648)GAG>GTG	p.E216V	KRT5_uc009zmh.2_Missense_Mutation_p.E216V	NM_000424	NP_000415	P13647	K2C5_HUMAN	keratin 5	216	Rod.|Linker 1.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton				0				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAACAACGGCTCCAGGTTCTG	0.607000												
IKZF4	64375	broad.mit.edu	37	12	56420736	56420736	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr12:56420736G>A	uc001sjb.1	+	5	617	c.458G>A	c.(457-459)CGG>CAG	p.R153Q	IKZF4_uc010sqa.1_Missense_Mutation_p.R106Q|IKZF4_uc001sjc.1_Missense_Mutation_p.R153Q|IKZF4_uc001sjd.1_Missense_Mutation_p.R51Q|IKZF4_uc009zoi.1_Missense_Mutation_p.R108Q|IKZF4_uc001sje.1_Missense_Mutation_p.R112Q	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	153					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGGCATCCGGCTGCCCAAT	0.577000												
KSR2	283455	broad.mit.edu	37	12	117914308	117914308	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr12:117914308T>G	uc001two.2	-	17	2511	c.2456A>C	c.(2455-2457)AAG>ACG	p.K819T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	848	Protein kinase.				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)					GAAGGGGAGCTTATCCTCCTC	0.607000												
BRCA2	675	broad.mit.edu	37	13	32911315	32911315	+	Silent	SNP	G	G	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr13:32911315G>C	uc001uub.1	+	11	3050	c.2823G>C	c.(2821-2823)GTG>GTC	p.V941V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	941	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CAACCCAAGTGTCAATTAAAA	0.343000			D|Mis|N|F|S		breast|ovarian|pancreatic	breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)		Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	TCGA Ovarian(8;0.087)		
MAB21L1	4081	broad.mit.edu	37	13	36049997	36049997	+	Silent	SNP	T	T	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr13:36049997T>G	uc001uvc.2	-	1	836	c.279A>C	c.(277-279)TCA>TCC	p.S93S	NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	mab-21-like protein 1	93					anatomical structure morphogenesis	nucleus				ovary(2)	2		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		AGCCGGGCAGTGAGCCATCGT	0.592000												
DCLK1	9201	broad.mit.edu	37	13	36367576	36367576	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr13:36367576G>C	uc001uvf.2	-	16	2218	c.1985C>G	c.(1984-1986)GCT>GGT	p.A662G	DCLK1_uc001uve.3_Missense_Mutation_p.A355G|DCLK1_uc010teh.1_Missense_Mutation_p.A355G|DCLK1_uc010abk.2_Missense_Mutation_p.A182G	NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	662					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TATCTTTCCAGCTACTGACAG	0.338000												
FAM155A	728215	broad.mit.edu	37	13	108518522	108518522	+	Silent	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr13:108518522G>A	uc001vql.2	-	1	939	c.423C>T	c.(421-423)GGC>GGT	p.G141G		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	141	Poly-Gly.					integral to membrane	binding			skin(1)	1						CCTTGCCGCCGCCGCCGCCGC	0.701000												
DAAM1	23002	broad.mit.edu	37	14	59791093	59791093	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr14:59791093C>A	uc001xdz.1	+	8	1035	c.910C>A	c.(910-912)CTT>ATT	p.L304I	DAAM1_uc001xea.1_Missense_Mutation_p.L304I|DAAM1_uc001xeb.1_Missense_Mutation_p.L304I	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	304	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TAGACTTCATCTTCGCTATGA	0.279000												
NGB	58157	broad.mit.edu	37	14	77737252	77737252	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr14:77737252C>T	uc001xtg.1	-	1	404	c.29G>A	c.(28-30)CGG>CAG	p.R10Q		NM_021257	NP_067080	Q9NPG2	NGB_HUMAN	neuroglobin	10	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity				0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCAGCTCTGCCGGATCAGCTC	0.751000												
SHC4	399694	broad.mit.edu	37	15	49148239	49148239	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr15:49148239C>T	uc001zxb.1	-	8	1582	c.1153G>A	c.(1153-1155)GTA>ATA	p.V385I	SHC4_uc010uey.1_Missense_Mutation_p.V142I|SHC4_uc010uez.1_Missense_Mutation_p.V99I	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	385	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACACCACCTACTGGTGGCTGC	0.428000												
ROGDI	79641	broad.mit.edu	37	16	4848162	4848162	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:4848162C>T	uc002cxv.2	-	8	657	c.555G>A	c.(553-555)CCG>CCA	p.P185P	ROGDI_uc002cxu.2_Silent_p.P95P|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Silent_p.P95P	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	185						intracellular				ovary(1)|skin(1)	2						GCAGGTCGGACGGCAGGGCAG	0.652000												
GRIN2A	2903	broad.mit.edu	37	16	9857925	9857925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:9857925C>T	uc002czo.3	-	13	4024	c.3476G>A	c.(3475-3477)CGC>CAC	p.R1159H	GRIN2A_uc010uym.1_Missense_Mutation_p.R1159H|GRIN2A_uc010uyn.1_Missense_Mutation_p.R1002H|GRIN2A_uc002czr.3_Missense_Mutation_p.R1159H	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1159	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCCCCTTGCGGAAGTTTTC	0.532000												
ATXN2L	11273	broad.mit.edu	37	16	28841303	28841303	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:28841303G>A	uc002drc.2	+	8	1126	c.958G>A	c.(958-960)GGG>AGG	p.G320R	uc010vct.1_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.G320R|ATXN2L_uc002drb.2_Missense_Mutation_p.G320R|ATXN2L_uc002dqy.2_Missense_Mutation_p.G320R|ATXN2L_uc002dra.2_Missense_Mutation_p.G320R|ATXN2L_uc002dqz.2_Missense_Mutation_p.G320R|ATXN2L_uc010vdb.1_Missense_Mutation_p.G320R|ATXN2L_uc002dre.2_Missense_Mutation_p.G320R|ATXN2L_uc002drf.2_5'UTR	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN	ataxin 2 related protein isoform A	320						membrane				upper_aerodigestive_tract(1)|ovary(1)	2						GAACGACGATGGGCGCACTGA	0.612000												
CES2	8824	broad.mit.edu	37	16	66976138	66976138	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:66976138T>C	uc002eqr.2	+	9	2460	c.1460T>C	c.(1459-1461)GTA>GCA	p.V487A	CES2_uc002eqq.2_Missense_Mutation_p.V487A|CES2_uc002eqs.2_Missense_Mutation_p.V330A	NM_003869	NP_003860	O00748	EST2_HUMAN	carboxylesterase 2 isoform 1	423					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GCACTCCAAGTAGCACATTTT	0.567000												
EDC4	23644	broad.mit.edu	37	16	67918031	67918031	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:67918031G>A	uc002eur.2	+	29	4352	c.4186G>A	c.(4186-4188)GTG>ATG	p.V1396M	EDC4_uc010cer.2_Missense_Mutation_p.V1015M|EDC4_uc002eus.2_Missense_Mutation_p.V1126M|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.2_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	autoantigen RCD8	1396					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|central_nervous_system(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCATGGCCTCGTGACCCCCAG	0.632000											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FTSJD1	55783	broad.mit.edu	37	16	71319389	71319389	+	Silent	SNP	T	T	C	rs111584309		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:71319389T>C	uc010cga.2	-	3	841	c.435A>G	c.(433-435)GAA>GAG	p.E145E	FTSJD1_uc002ezy.3_Silent_p.E145E|FTSJD1_uc002ezz.3_Silent_p.E145E	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN	FtsJ methyltransferase domain containing 1	145						integral to membrane	methyltransferase activity|nucleic acid binding			skin(1)	1						CTCCTGGAGCTTCACAAAGGT	0.418000												
CHST6	4166	broad.mit.edu	37	16	75513372	75513372	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr16:75513372C>G	uc002fef.2	-	3	535	c.355G>C	c.(355-357)GAC>CAC	p.D119H	CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.D119H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	119	Lumenal (Potential).				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						TGGAAGAGGTCGGACAGGTTG	0.657000												
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr17:7577548C>T	uc002gim.2	-	7	927	c.733G>A	c.(733-735)GGC>AGC	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	245	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and 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.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	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)		
SMCR7	125170	broad.mit.edu	37	17	18166065	18166065	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr17:18166065C>T	uc002gst.2	+	2	242	c.31C>T	c.(31-33)CGG>TGG	p.R11W	SMCR7_uc002gsu.2_Missense_Mutation_p.R11W|SMCR7_uc010vxq.1_Missense_Mutation_p.R22W	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN	Smith-Magenis syndrome chromosome region,	11						integral to membrane	protein binding				0	all_neural(463;0.228)					ACGGGGGAAGCGGCGTAGCGA	0.672000												
TBC1D29	26083	broad.mit.edu	37	17	28887643	28887643	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr17:28887643C>T	uc002hfh.2	+	3	236	c.87C>T	c.(85-87)CTC>CTT	p.L29L	TBC1D29_uc002hfi.2_RNA|uc002hfj.1_5'Flank	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	29	Rab-GAP TBC; truncated.					intracellular	Rab GTPase activator activity				0		Myeloproliferative disorder(56;0.0255)				AGATCTCTCTCGGGCTCACCC	0.552000												
SMARCE1	6605	broad.mit.edu	37	17	38792281	38792281	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr17:38792281C>T	uc002hux.2	-	7	567	c.443G>A	c.(442-444)CGT>CAT	p.R148H	SMARCE1_uc010wff.1_Missense_Mutation_p.R113H|SMARCE1_uc010wfg.1_Missense_Mutation_p.R78H|SMARCE1_uc002huy.2_Missense_Mutation_p.R113H|SMARCE1_uc010wfh.1_Missense_Mutation_p.R78H|SMARCE1_uc010wfi.1_Missense_Mutation_p.R130H|SMARCE1_uc002huz.1_Missense_Mutation_p.R113H|SMARCE1_uc010wfj.1_Missense_Mutation_p.R130H	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	SWI/SNF-related matrix-associated	148					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity				0		Breast(137;0.000812)				AGCTTCTGCACGACTTTTTGC	0.413000												
DNAI2	64446	broad.mit.edu	37	17	72295929	72295929	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr17:72295929T>C	uc002jkf.2	+	7	896	c.797T>C	c.(796-798)GTG>GCG	p.V266A	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	266	WD 3.				cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						CGAGACCCTGTGTATGGCACC	0.612000									Kartagener_syndrome			
IER3IP1	51124	broad.mit.edu	37	18	44683851	44683851	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr18:44683851G>A	uc002lcu.2	-	2	246	c.149C>T	c.(148-150)TCA>TTA	p.S50L		NM_016097	NP_057181	Q9Y5U9	IR3IP_HUMAN	immediate early response 3 interacting protein	50						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane					0						CATTAGCTGTGATTTAATTCC	0.378000												
SERPINB12	89777	broad.mit.edu	37	18	61231355	61231355	+	Splice_Site	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr18:61231355T>C	uc010xen.1	+	5	645	c.645_splice	c.e5+2	p.A215_splice	SERPINB12_uc010xeo.1_Splice_Site_p.A235_splice	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	serine (or cysteine) proteinase inhibitor, clade						negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity				0						CTAAATGCGGTAGTGTATCAG	0.388000												
SERPINB13	5275	broad.mit.edu	37	18	61255944	61255944	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr18:61255944C>A	uc002ljc.2	+	2	211	c.43C>A	c.(43-45)CTT>ATT	p.L15I	SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Missense_Mutation_p.L15I|SERPINB13_uc010xeq.1_5'UTR|SERPINB13_uc010xer.1_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	15					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1						TGGGTTTGATCTTTTCAAAGA	0.453000												
RFX2	5990	broad.mit.edu	37	19	6004219	6004219	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:6004219T>A	uc002meb.2	-	13	1762	c.1493A>T	c.(1492-1494)CAG>CTG	p.Q498L	RFX2_uc002mec.2_Missense_Mutation_p.Q473L	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6						CACCTTGGTCTGGATGACCTG	0.597000												
ZNF266	10781	broad.mit.edu	37	19	9524819	9524819	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:9524819G>A	uc002mll.2	-	4	1048	c.782C>T	c.(781-783)ACT>ATT	p.T261I	ZNF266_uc002mlm.2_Missense_Mutation_p.T261I|ZNF266_uc002mln.2_Missense_Mutation_p.T261I|ZNF266_uc002mlo.2_Missense_Mutation_p.T261I|ZNF266_uc010dwp.2_Missense_Mutation_p.T261I|ZNF266_uc010dwq.2_Missense_Mutation_p.T261I	NM_198058	NP_932175	Q14584	ZN266_HUMAN	zinc finger protein 266	261	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCCAGTGTGAGTTTTTCTGTG	0.433000												
ZNF181	339318	broad.mit.edu	37	19	35232159	35232159	+	Silent	SNP	A	A	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:35232159A>G	uc002nvu.3	+	4	1336	c.873A>G	c.(871-873)AAA>AAG	p.K291K	ZNF181_uc010xsa.1_Silent_p.K290K|ZNF181_uc010xsb.1_Silent_p.K290K|ZNF181_uc010xsc.1_Silent_p.K226K	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	zinc finger protein 181 isoform 1	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTGGAGAGAAACCTTACAAAT	0.428000												
ZNF781	163115	broad.mit.edu	37	19	38160229	38160229	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:38160229T>C	uc002ogy.2	-	4	1563	c.821A>G	c.(820-822)AAC>AGC	p.N274S	ZNF781_uc002ogz.2_Missense_Mutation_p.N269S	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCTCTGGTGTTGAATAAGAG	0.368000												
LRFN1	57622	broad.mit.edu	37	19	39805107	39805107	+	Silent	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:39805107G>A	uc002okw.2	-	1	870	c.870C>T	c.(868-870)CCC>CCT	p.P290P		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III	290	LRRCT.|Extracellular (Potential).					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				ovary(2)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACTCCTCCTCGGGGATGGACC	0.706000												
PSG11	5680	broad.mit.edu	37	19	43523024	43523024	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:43523024A>G	uc002ovm.1	-	3	714	c.607T>C	c.(607-609)TTT>CTT	p.F203L	PSG11_uc002ouw.2_Missense_Mutation_p.F209L|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.F209L|PSG11_uc002ovn.1_Missense_Mutation_p.F209L|PSG11_uc002ovo.1_Missense_Mutation_p.F81L|PSG11_uc002ovp.1_Missense_Mutation_p.F81L	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	203	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				CCAAATAGAAAGAGGGTCCTG	0.502000												
CRX	1406	broad.mit.edu	37	19	48342758	48342758	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:48342758C>A	uc002phq.3	+	4	638	c.434C>A	c.(433-435)CCT>CAT	p.P145H		NM_000554	NP_000545	O43186	CRX_HUMAN	cone-rod homeobox protein	145					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)	2		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TACAGTCCCCCTCTGCCCGGC	0.672000												
VN1R2	317701	broad.mit.edu	37	19	53762734	53762734	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:53762734G>T	uc002qbi.2	+	1	1190	c.1106G>T	c.(1105-1107)TGC>TTC	p.C369F		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	369	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		GTTCTCATGTGCCGTGACCCC	0.428000												
NLRP9	338321	broad.mit.edu	37	19	56235402	56235402	+	Silent	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:56235402G>A	uc002qly.2	-	4	2131	c.2103C>T	c.(2101-2103)GAC>GAT	p.D701D		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	701						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGTGTCTGATGTCAGACTGGG	0.468000												
PEG3	5178	broad.mit.edu	37	19	57335005	57335005	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:57335005C>T	uc002qnu.2	-	2	788	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.R20Q|ZIM2_uc002qnq.2_Missense_Mutation_p.R20Q|ZIM2_uc010etp.2_Missense_Mutation_p.R20Q|ZIM2_uc010ygs.1_Missense_Mutation_p.R20Q|PEG3_uc002qnt.2_Missense_Mutation_p.R146Q|PEG3_uc002qnv.2_Missense_Mutation_p.R146Q|PEG3_uc002qnw.2_Missense_Mutation_p.R20Q|PEG3_uc002qnx.2_Missense_Mutation_p.R20Q|PEG3_uc010etr.2_Missense_Mutation_p.R146Q	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	146					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTCTGTTCCGGGTCATGTC	0.552000												
ZNF530	348327	broad.mit.edu	37	19	58117212	58117212	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:58117212A>C	uc002qpk.2	+	3	539	c.319A>C	c.(319-321)ATT>CTT	p.I107L	ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTACAAATGATTGAGCTCCA	0.473000												
TPO	7173	broad.mit.edu	37	2	1499847	1499847	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:1499847A>C	uc002qww.2	+	12	2184	c.2093A>C	c.(2092-2094)AAC>ACC	p.N698T	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.N641T|TPO_uc002qwr.2_Missense_Mutation_p.N698T|TPO_uc002qwx.2_Missense_Mutation_p.N641T|TPO_uc010yio.1_Missense_Mutation_p.N525T|TPO_uc010yip.1_Missense_Mutation_p.N698T|TPO_uc002qwy.1_Missense_Mutation_p.N38T|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	698	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ATCTGTGACAACACTGGCCTC	0.567000												
TPO	7173	broad.mit.edu	37	2	1500483	1500483	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:1500483G>C	uc002qww.2	+	13	2423	c.2332G>C	c.(2332-2334)GAG>CAG	p.E778Q	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.E721Q|TPO_uc002qwr.2_Missense_Mutation_p.E778Q|TPO_uc002qwx.2_Missense_Mutation_p.E721Q|TPO_uc010yio.1_Missense_Mutation_p.E605Q|TPO_uc010yip.1_Missense_Mutation_p.E778Q|TPO_uc002qwy.1_Missense_Mutation_p.E118Q|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	778	Extracellular (Potential).|Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAAGGCCGGGAGCAGCTCAC	0.552000												
GREB1	9687	broad.mit.edu	37	2	11725893	11725893	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:11725893G>A	uc002rbk.1	+	9	1321	c.1021G>A	c.(1021-1023)GCA>ACA	p.A341T	GREB1_uc002rbl.2_Missense_Mutation_p.A341T|GREB1_uc002rbn.1_Missense_Mutation_p.A341T|GREB1_uc002rbo.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	341						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)		CCTAGAGAGCGCAGGCATGTC	0.532000												
PUM2	23369	broad.mit.edu	37	2	20463105	20463105	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:20463105G>A	uc002rds.1	-	13	2097	c.2074C>T	c.(2074-2076)CCT>TCT	p.P692S	PUM2_uc002rdq.1_Missense_Mutation_p.P69S|PUM2_uc002rdt.1_Missense_Mutation_p.P692S|PUM2_uc002rdr.2_Missense_Mutation_p.P552S|PUM2_uc010yjy.1_Missense_Mutation_p.P613S|PUM2_uc002rdu.1_Missense_Mutation_p.P692S|PUM2_uc010yjz.1_Missense_Mutation_p.P631S	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	pumilio homolog 2	692					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCCGGGAAGGAGGAAAGAGC	0.463000												
ALK	238	broad.mit.edu	37	2	29551215	29551215	+	Splice_Site	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:29551215C>T	uc002rmy.2	-	6	2321	c.1414_splice	c.e6+1	p.R472_splice		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	anaplastic lymphoma kinase precursor						protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CATCTACTCACGGCACATCTG	0.592000			T|Mis|A	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	ALCL|NSCLC|Neuroblastoma	neuroblastoma			Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome			
THADA	63892	broad.mit.edu	37	2	43800003	43800003	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:43800003G>A	uc002rsw.3	-	12	2210	c.1858C>T	c.(1858-1860)CTC>TTC	p.L620F	THADA_uc010far.2_5'Flank|THADA_uc002rsx.3_Missense_Mutation_p.L620F|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.L330F|THADA_uc010fat.1_5'Flank|THADA_uc002rta.2_Missense_Mutation_p.L330F|THADA_uc002rtb.1_Missense_Mutation_p.L620F|THADA_uc002rtc.3_Missense_Mutation_p.L620F|THADA_uc002rtd.2_Missense_Mutation_p.L620F	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	620							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCAGACACGAGGTTCTCCCAG	0.443000												
SPTBN1	6711	broad.mit.edu	37	2	54851961	54851961	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:54851961A>C	uc002rxu.2	+	11	1452	c.1203A>C	c.(1201-1203)AAA>AAC	p.K401N	SPTBN1_uc002rxv.1_Missense_Mutation_p.K401N|SPTBN1_uc002rxx.2_Missense_Mutation_p.K388N	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	401	Spectrin 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)			GACTGGAAAAAGCGGAACACG	0.473000												
ETAA1	54465	broad.mit.edu	37	2	67632028	67632028	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:67632028G>T	uc002sdz.1	+	5	2353	c.2214G>T	c.(2212-2214)ATG>ATT	p.M738I		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	ETAA16 protein	738						cytoplasm|nucleus				ovary(3)|large_intestine(1)	4						ATTTGACTATGTATTCTAAGA	0.343000												
INPP4A	3631	broad.mit.edu	37	2	99182628	99182628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:99182628G>T	uc002syy.2	+	22	2824	c.2431G>T	c.(2431-2433)GAG>TAG	p.E811*	INPP4A_uc010yvj.1_Nonsense_Mutation_p.E772*|INPP4A_uc010yvk.1_Nonsense_Mutation_p.E772*|INPP4A_uc002syx.2_Nonsense_Mutation_p.E806*|INPP4A_uc010fik.2_Nonsense_Mutation_p.E140*	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	811					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1						GACACTGGCCGAGAGGTGCGT	0.622000												
TTN	7273	broad.mit.edu	37	2	179452836	179452836	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:179452836C>T	uc010zfg.1	-	254	55818	c.55594G>A	c.(55594-55596)GTT>ATT	p.V18532I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V12227I|TTN_uc010zfi.1_Missense_Mutation_p.V12160I|TTN_uc010zfj.1_Missense_Mutation_p.V12035I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19459							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCCACAACATATCCAATG	0.453000												
TTN	7273	broad.mit.edu	37	2	179604777	179604777	+	Silent	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:179604777G>A	uc010zfh.1	-	46	12894	c.12670C>T	c.(12670-12672)CTG>TTG	p.L4224L	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Silent_p.L4157L|TTN_uc010zfj.1_Silent_p.L4032L|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	4152							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATTTTCAGGTTTAATCTC	0.483000												
ZNF804A	91752	broad.mit.edu	37	2	185801900	185801900	+	Missense_Mutation	SNP	A	A	T	rs113810390		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:185801900A>T	uc002uph.2	+	4	2371	c.1777A>T	c.(1777-1779)AGT>TGT	p.S593C		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	593						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						GTTCCATAAAAGTAGAAGAAA	0.303000												
ABCA12	26154	broad.mit.edu	37	2	215812220	215812220	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:215812220T>A	uc002vew.2	-	48	7385	c.7165A>T	c.(7165-7167)ATG>TTG	p.M2389L	ABCA12_uc002vev.2_Missense_Mutation_p.M2071L|ABCA12_uc010zjn.1_Missense_Mutation_p.M1316L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	2389	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAACTGCACATAGAGGTAGCT	0.433000												
PTPRN	5798	broad.mit.edu	37	2	220164507	220164507	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:220164507G>A	uc002vkz.2	-	10	1527	c.1438C>T	c.(1438-1440)CCC>TCC	p.P480S	PTPRN_uc010zlc.1_Missense_Mutation_p.P390S|PTPRN_uc002vla.2_Intron	NM_002846	NP_002837	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	480	Extracellular (Potential).				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|lung(1)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGGCTCAGGGGCCTGGAGATG	0.572000												
KIF1A	547	broad.mit.edu	37	2	241726728	241726728	+	Silent	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:241726728G>A	uc002vzy.2	-	5	515	c.369C>T	c.(367-369)TGC>TGT	p.C123C	KIF1A_uc010fzk.2_Silent_p.C123C|KIF1A_uc002vzz.1_Silent_p.C123C	NM_004321	NP_004312	Q12756	KIF1A_HUMAN	axonal transport of synaptic vesicles	123	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			lung(1)	1		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGAGGTCCTCGCAGAGCTGCA	0.667000												
ADARB1	104	broad.mit.edu	37	21	46602630	46602630	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr21:46602630G>T	uc002zgy.2	+	6	1644	c.1209G>T	c.(1207-1209)TTG>TTT	p.L403F	ADARB1_uc002zgr.2_Missense_Mutation_p.L403F|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Missense_Mutation_p.L403F|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Missense_Mutation_p.L403F|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	NM_015833	NP_056648	P78563	RED1_HUMAN	RNA-specific adenosine deaminase B1 isoform 2	403	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			skin(1)	1				Colorectal(79;0.115)		GGAGATCCTTGCTCAGATTTC	0.328000												
CLTCL1	8218	broad.mit.edu	37	22	19207439	19207439	+	Silent	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr22:19207439G>A	uc002zpb.2	-	18	2949	c.2874C>T	c.(2872-2874)CAC>CAT	p.H958H	CLTCL1_uc011agv.1_Silent_p.H958H|CLTCL1_uc011agw.1_Silent_p.H958H	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1 isoform 1	958	Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)					CCTCAAGGACGTGAGCCCAGA	0.522000			T	?	ALCL							
SEC14L4	284904	broad.mit.edu	37	22	30886231	30886231	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr22:30886231C>A	uc003aid.2	-	12	1184	c.1084G>T	c.(1084-1086)GTC>TTC	p.V362F	SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Missense_Mutation_p.V347F|SEC14L4_uc003aif.2_Missense_Mutation_p.M322I	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	SEC14p-like protein TAP3 isoform a	362	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			skin(1)	1					Vitamin E(DB00163)	AAGCGCAGGACATCTGCAGTG	0.587000												
TMEM184B	25829	broad.mit.edu	37	22	38620889	38620889	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr22:38620889C>T	uc003avf.1	-	8	1109	c.885G>A	c.(883-885)CAG>CAA	p.Q295Q	TMEM184B_uc003avg.1_Silent_p.Q295Q|TMEM184B_uc003avh.1_Silent_p.Q229Q	NM_012264	NP_036396	Q9Y519	T184B_HUMAN	transmembrane protein 184B	295	Helical; (Potential).					integral to membrane					0	Melanoma(58;0.045)					TGATGAAGTCCTGGTAGCCGG	0.617000												
PKDREJ	10343	broad.mit.edu	37	22	46656654	46656654	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr22:46656654T>C	uc003bhh.2	-	1	2566	c.2566A>G	c.(2566-2568)ACC>GCC	p.T856A		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	856	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAATTGGGGGTTCTCATTGAG	0.378000												
TMEM111	55831	broad.mit.edu	37	3	10018730	10018730	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:10018730A>G	uc003bun.2	-	3	397	c.218T>C	c.(217-219)TTC>TCC	p.F73S	CIDEC_uc003bto.2_Intron|TMEM111_uc003buo.2_Missense_Mutation_p.F73S	NM_018447	NP_060917	Q9P0I2	TM111_HUMAN	transmembrane protein 111	73						integral to membrane					0						TCGTGTCAAGAAAGACTAGTA	0.353000												
VILL	50853	broad.mit.edu	37	3	38047335	38047335	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:38047335G>A	uc003chj.2	+	17	2289	c.2003G>A	c.(2002-2004)TGG>TAG	p.W668*	VILL_uc003chl.2_Nonsense_Mutation_p.W668*	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	668					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCGGTGGCCTGGGGCCAGGAG	0.647000												
SCN11A	11280	broad.mit.edu	37	3	38888324	38888324	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:38888324T>G	uc011ays.1	-	26	5436	c.5237A>C	c.(5236-5238)AAG>ACG	p.K1746T		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	1746					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATCATGTACTTTCGAAAGGC	0.378000												
PRSS45	377047	broad.mit.edu	37	3	46784042	46784042	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:46784042A>C	uc010hjl.2	-	4	485	c.485T>G	c.(484-486)GTT>GGT	p.V162G	PRSS45_uc011bam.1_RNA	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	testis serine protease 5	194	Peptidase S1.				proteolysis		serine-type endopeptidase activity				0						TCTGCCCTCAACTTCACAAGC	0.572000												
DALRD3	55152	broad.mit.edu	37	3	49055175	49055175	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:49055175C>T	uc003cvk.1	-	3	609	c.589G>A	c.(589-591)GAA>AAA	p.E197K	DALRD3_uc003cvl.1_Missense_Mutation_p.E197K|DALRD3_uc003cvm.1_Missense_Mutation_p.E30K|DALRD3_uc010hko.1_Missense_Mutation_p.E30K|DALRD3_uc011bca.1_Missense_Mutation_p.E197K|NDUFAF3_uc003cvn.2_5'Flank	NM_001009996	NP_001009996	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	197					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTAAGTTCTTCAAGGGCGTGG	0.622000												
CACNA1D	776	broad.mit.edu	37	3	53835248	53835248	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:53835248C>T	uc003dgv.3	+	42	5367	c.5204C>T	c.(5203-5205)TCG>TTG	p.S1735L	CACNA1D_uc003dgu.3_Missense_Mutation_p.S1755L|CACNA1D_uc003dgy.3_Missense_Mutation_p.S1720L|CACNA1D_uc003dgw.3_Missense_Mutation_p.S1402L|CACNA1D_uc011bes.1_RNA	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type,	1735	Cytoplasmic (Potential).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAGGAAATTCGGTGTGTCAT	0.468000												
ARL13B	200894	broad.mit.edu	37	3	93768349	93768349	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:93768349C>T	uc003drc.2	+	8	1410	c.1124C>T	c.(1123-1125)CCC>CTC	p.P375L	ARL13B_uc010hop.2_Missense_Mutation_p.P226L|ARL13B_uc003drd.2_Missense_Mutation_p.P268L|ARL13B_uc003dre.2_Missense_Mutation_p.P360L|ARL13B_uc003drf.2_Missense_Mutation_p.P375L|ARL13B_uc003drg.2_Missense_Mutation_p.P272L	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 2-like 1 isoform 1	375	Pro-rich.						GTP binding				0						CCAACGCCACCCCCACCCCCT	0.378000												
OR5H14	403273	broad.mit.edu	37	3	97868965	97868965	+	Silent	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:97868965T>C	uc003dsg.1	+	1	736	c.736T>C	c.(736-738)TTA>CTA	p.L246L		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H,	246	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AGCTCATCTCTTATCTGTATC	0.413000												
IMPG2	50939	broad.mit.edu	37	3	100951812	100951812	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:100951812A>T	uc003duq.1	-	15	3249	c.3046T>A	c.(3046-3048)TTT>ATT	p.F1016I	IMPG2_uc011bhe.1_Missense_Mutation_p.F879I|IMPG2_uc010hpj.1_RNA	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1016	Extracellular (Potential).|EGF-like 1.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						CAGGCCTGAAACTTGCAAGGG	0.438000												
BBX	56987	broad.mit.edu	37	3	107492475	107492475	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:107492475T>C	uc010hpr.2	+	11	2234	c.1907T>C	c.(1906-1908)GTT>GCT	p.V636A	BBX_uc003dwk.3_Missense_Mutation_p.V636A|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.V657A|BBX_uc003dwm.3_Missense_Mutation_p.V636A|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CGAGCTAATGTTGACAGAGGT	0.393000												
ALDH1L1	10840	broad.mit.edu	37	3	125879818	125879818	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:125879818T>G	uc003eim.1	-	2	195	c.5A>C	c.(4-6)AAG>ACG	p.K2T	ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.K2T|ALDH1L1_uc010hsf.1_5'UTR|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	2	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CACTGCAATCTTCATGGTAGC	0.532000												
STAG1	10274	broad.mit.edu	37	3	136057238	136057238	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:136057238A>G	uc003era.1	-	33	4019	c.3727T>C	c.(3727-3729)TCT>CCT	p.S1243P	STAG1_uc003erb.1_Missense_Mutation_p.S1206P	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1243					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2						ATAGCTGCAGAGTCAAAGAAG	0.358000												
PRR23B	389151	broad.mit.edu	37	3	138739227	138739227	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:138739227C>T	uc003esy.1	-	1	542	c.277G>A	c.(277-279)GGT>AGT	p.G93S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	proline rich 23B	93										breast(1)	1						GTGTGTCCACCGAGAGACACT	0.662000												
IGSF10	285313	broad.mit.edu	37	3	151163065	151163065	+	Silent	SNP	A	A	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr3:151163065A>G	uc011bod.1	-	4	4704	c.4704T>C	c.(4702-4704)TCT>TCC	p.S1568S		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1568					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGCCCAGGGAGATGGAGTTA	0.413000												
RBM47	54502	broad.mit.edu	37	4	40438548	40438548	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr4:40438548C>A	uc003gvc.2	-	5	1950	c.1240G>T	c.(1240-1242)GGG>TGG	p.G414W	RBM47_uc003gvd.2_Intron|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.G376W	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	414						nucleus	nucleotide binding|RNA binding			breast(3)	3						TTTCCTTTCCCTTCATGATAT	0.517000												
DNAH5	1767	broad.mit.edu	37	5	13717530	13717530	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:13717530T>G	uc003jfd.2	-	73	12641	c.12599A>C	c.(12598-12600)AAG>ACG	p.K4200T	DNAH5_uc003jfc.2_Missense_Mutation_p.K368T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4200	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K4200T(1)		ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					GGCACCGAACTTGCGCCTCTC	0.552000									Kartagener_syndrome			
DNAH5	1767	broad.mit.edu	37	5	13824440	13824440	+	Silent	SNP	A	A	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:13824440A>C	uc003jfd.2	-	39	6489	c.6447T>G	c.(6445-6447)GTT>GTG	p.V2149V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2149	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AGTCATAATGAACCTAGAGAA	0.383000									Kartagener_syndrome			
CDH12	1010	broad.mit.edu	37	5	21751873	21751873	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:21751873C>T	uc010iuc.2	-	12	2816	c.2358G>A	c.(2356-2358)GAG>GAA	p.E786E	CDH12_uc011cno.1_Silent_p.E746E|CDH12_uc003jgk.2_Silent_p.E786E|uc003jgj.2_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	786	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						GGTTATAACTCTCTTCTTCGC	0.418000										HNSCC(59;0.17)		
CDH6	1004	broad.mit.edu	37	5	31313471	31313471	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:31313471G>A	uc003jhe.1	+	8	1626	c.1300G>A	c.(1300-1302)GAT>AAT	p.D434N	CDH6_uc003jhd.1_Missense_Mutation_p.D434N	NM_004932	NP_004923	P55285	CADH6_HUMAN	cadherin 6, type 2 preproprotein	434	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7						ATTCAACATTGATTCTGGAAA	0.373000												
GPR150	285601	broad.mit.edu	37	5	94956706	94956706	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:94956706G>A	uc003kle.1	+	1	727	c.727G>A	c.(727-729)GCG>ACG	p.A243T		NM_199243	NP_954713	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	243	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		GGGCTTCGTCGCGCCTGTTAC	0.687000												
SRP19	6728	broad.mit.edu	37	5	112228594	112228594	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:112228594C>T	uc011cvv.1	+	4	1588	c.1333C>T	c.(1333-1335)CGG>TGG	p.R445W	SRP19_uc011cvu.1_Missense_Mutation_p.R430W|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron			P09132	SRP19_HUMAN	SubName: Full=Zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2;	Error:Variant_position_missing_in_P09132_after_alignment					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding				0		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		ATCAAAGAGTCGGGAGAGGCA	0.552000												
AQPEP	206338	broad.mit.edu	37	5	115346505	115346505	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:115346505A>G	uc003kro.2	+	14	2325	c.2161A>G	c.(2161-2163)ATA>GTA	p.I721V	AQPEP_uc003krp.2_Intron|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_Intron	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	721	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0						AGATGAAATTATAGTATGGCA	0.313000												
NRN1	51299	broad.mit.edu	37	6	5999379	5999379	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr6:5999379C>G	uc003mwu.2	-	3	910	c.259G>C	c.(259-261)GCG>CCG	p.A87P	NRN1_uc003mwt.2_Missense_Mutation_p.A113P	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	neuritin precursor	87						anchored to membrane|plasma membrane					0	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		ATATCTTTCGCCCCTTCCTGG	0.522000												
HLA-DQA2	3118	broad.mit.edu	37	6	32714123	32714123	+	Silent	SNP	C	C	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr6:32714123C>A	uc003obx.2	+	4	778	c.720C>A	c.(718-720)ATC>ATA	p.I240I		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	240	Helical; (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCATCATCCAAGGCCTGC	0.522000												
HLA-DMB	3109	broad.mit.edu	37	6	32905013	32905013	+	Silent	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr6:32905013G>A	uc003ocl.1	-	3	791	c.558C>T	c.(556-558)TAC>TAT	p.Y186Y	HLA-DMB_uc003ocj.1_3'UTR|HLA-DMB_uc003ock.1_5'Flank|HLA-DMB_uc010jud.1_Silent_p.Y55Y|HLA-DMB_uc010jue.1_Silent_p.Y55Y|HLA-DMB_uc010juf.1_Silent_p.Y55Y|HLA-DMB_uc011dql.1_Silent_p.Y186Y	NM_002118	NP_002109	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM	186	Lumenal (Potential).|Ig-like C1-type.|Beta-2.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0						AAGTGTCCCCGTAAGAGGGGG	0.547000												
ZNF292	23036	broad.mit.edu	37	6	87969804	87969804	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr6:87969804G>A	uc003plm.3	+	8	6498	c.6457G>A	c.(6457-6459)GAA>AAA	p.E2153K		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	2153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGTCGAAGAGGAAAGTGAAGC	0.398000												
C6orf174	387104	broad.mit.edu	37	6	127837556	127837556	+	Silent	SNP	A	A	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr6:127837556A>G	uc003qbd.2	-	2	1069	c.204T>C	c.(202-204)AAT>AAC	p.N68N		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	68						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)		gcCGAACAGAATTGAGTTTAG	0.572000												
FAM188B	84182	broad.mit.edu	37	7	30890083	30890083	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:30890083T>C	uc003tbt.2	+	10	1536	c.1459T>C	c.(1459-1461)TCA>CCA	p.S487P	FAM188B_uc010kwe.2_Missense_Mutation_p.S458P|AQP1_uc011kac.1_5'Flank	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	487											0						ACTGCAGCCTTCAGATGCCCA	0.597000												
CDK13	8621	broad.mit.edu	37	7	40132389	40132389	+	Missense_Mutation	SNP	A	A	G	rs67805104		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:40132389A>G	uc003thh.3	+	13	3523	c.3241A>G	c.(3241-3243)ACA>GCA	p.T1081A	CDK13_uc003thi.3_Intron|CDK13_uc003thj.2_Missense_Mutation_p.T132A|CDK13_uc003thk.2_Missense_Mutation_p.T14A	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1081					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						TTTAGTAAAAACAGGCCCTGG	0.348000												
GLI3	2737	broad.mit.edu	37	7	42005605	42005605	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:42005605C>T	uc011kbh.1	-	15	3157	c.3066G>A	c.(3064-3066)CCG>CCA	p.P1022P	GLI3_uc011kbg.1_Silent_p.P963P	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1022					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						TGCTGAAGCGCGGCACACGAG	0.736000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
GLI3	2737	broad.mit.edu	37	7	42085089	42085089	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:42085089C>T	uc011kbh.1	-	6	811	c.720G>A	c.(718-720)CAG>CAA	p.Q240Q	GLI3_uc011kbg.1_Silent_p.Q181Q	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	240					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GCAGGGCCATCTGATGATAGT	0.532000									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
IGFBP1	3484	broad.mit.edu	37	7	45931573	45931573	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:45931573G>T	uc003tnp.2	+	3	855	c.562G>T	c.(562-564)GCC>TCC	p.A188S	IGFBP1_uc003tno.3_Missense_Mutation_p.A188S|IGFBP1_uc010kyn.2_Intron	NM_000596	NP_000587	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	188	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			lung(1)	1						AGAGAGTTTAGCCAAGGCACA	0.428000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCLO	27445	broad.mit.edu	37	7	82582874	82582874	+	Silent	SNP	T	T	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:82582874T>G	uc003uhx.2	-	5	7684	c.7395A>C	c.(7393-7395)ACA>ACC	p.T2465T	PCLO_uc003uhv.2_Silent_p.T2465T|PCLO_uc010lec.2_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	2396	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TCAGAACAGCTGTGGTCTCTA	0.408000												
MUC17	140453	broad.mit.edu	37	7	100687003	100687003	+	Silent	SNP	C	C	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:100687003C>G	uc003uxp.1	+	3	12359	c.12306C>G	c.(12304-12306)ACC>ACG	p.T4102T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4102	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACGGACCACTTCCTTCC	0.552000												
ANKRD7	56311	broad.mit.edu	37	7	117864908	117864908	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:117864908G>T	uc003vji.2	+	1	197	c.24G>T	c.(22-24)TGG>TGT	p.W8C		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	8					male gonad development						0						TCAGCTTCTGGAAGAGGAAGA	0.527000												
TPK1	27010	broad.mit.edu	37	7	144463012	144463012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:144463012G>A	uc003weq.2	-	3	179	c.76C>T	c.(76-78)CAG>TAG	p.Q26*	TPK1_uc003wer.2_Nonsense_Mutation_p.Q26*|TPK1_uc003wes.2_RNA	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1 isoform a	26					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)	TCCAAAGGCTGATTAAGAATT	0.318000												
PTPRN2	5799	broad.mit.edu	37	7	157370783	157370783	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:157370783G>A	uc003wno.2	-	18	2667	c.2546C>T	c.(2545-2547)GCG>GTG	p.A849V	PTPRN2_uc003wnp.2_Missense_Mutation_p.A832V|PTPRN2_uc003wnq.2_Missense_Mutation_p.A820V|PTPRN2_uc003wnr.2_Missense_Mutation_p.A811V|PTPRN2_uc011kwa.1_Missense_Mutation_p.A872V	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	849	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCGTTCTCCGCGAGGGGTGT	0.622000												
NCAPG2	54892	broad.mit.edu	37	7	158448112	158448112	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr7:158448112C>T	uc003wnv.1	-	20	2569	c.2424G>A	c.(2422-2424)GGG>GGA	p.G808G	NCAPG2_uc010lqu.1_Silent_p.G600G|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Silent_p.G808G|NCAPG2_uc011kwe.1_Silent_p.G808G|NCAPG2_uc011kwc.1_Silent_p.G309G|NCAPG2_uc011kwd.1_Silent_p.G251G	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	808					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CACGAGGCTTCCCACCCGGTG	0.587000												
PREX2	80243	broad.mit.edu	37	8	68930087	68930087	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr8:68930087T>G	uc003xxv.1	+	2	175	c.148T>G	c.(148-150)TTA>GTA	p.L50V	PREX2_uc003xxu.1_Missense_Mutation_p.L50V|PREX2_uc011lez.1_Intron	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	50	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GCAGGCATTCTTACACAGAAT	0.378000												
ATP6V1C1	528	broad.mit.edu	37	8	104068162	104068162	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr8:104068162C>T	uc003ykz.3	+	8	884	c.639C>T	c.(637-639)AGC>AGT	p.S213S	ATP6V1C1_uc010mbz.2_Silent_p.S138S|ATP6V1C1_uc003yla.2_Silent_p.S213S|ATP6V1C1_uc011lhl.1_Silent_p.S138S	NM_001695	NP_001686	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit	213					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism				0	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CAAGGTCTAGCAAGTAAGTAG	0.373000												
CSMD3	114788	broad.mit.edu	37	8	113585844	113585844	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr8:113585844A>T	uc003ynu.2	-	24	4087	c.3928T>A	c.(3928-3930)TTT>ATT	p.F1310I	CSMD3_uc003yns.2_Missense_Mutation_p.F582I|CSMD3_uc003ynt.2_Missense_Mutation_p.F1270I|CSMD3_uc011lhx.1_Missense_Mutation_p.F1206I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1310	Extracellular (Potential).|CUB 7.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						GCACCAGTAAAAGCACCTAGT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
BAI1	575	broad.mit.edu	37	8	143624776	143624776	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr8:143624776C>T	uc003ywm.2	+	28	4609	c.4426C>T	c.(4426-4428)CGG>TGG	p.R1476W		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1476	Cytoplasmic (Potential).|Necessary for interaction with MAGI1.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCGGAAGTCGCGGTATGCAGA	0.627000												
CYP11B1	1584	broad.mit.edu	37	8	143961157	143961157	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr8:143961157C>T	uc003yxi.2	-	1	80	c.73G>A	c.(73-75)GGC>AGC	p.G25S	CYP11B1_uc003yxj.2_Missense_Mutation_p.G25S|CYP11B1_uc010mey.2_Missense_Mutation_p.G25S	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	25					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCTCTCGTGCCCAGTGCCTGT	0.647000									Familial_Hyperaldosteronism_type_I			
PTPRD	5789	broad.mit.edu	37	9	8404618	8404618	+	Silent	SNP	A	A	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:8404618A>G	uc003zkk.2	-	35	4840	c.4129T>C	c.(4129-4131)TTG>CTG	p.L1377L	PTPRD_uc003zkp.2_Silent_p.L971L|PTPRD_uc003zkq.2_Silent_p.L970L|PTPRD_uc003zkr.2_Silent_p.L961L|PTPRD_uc003zks.2_Silent_p.L970L|PTPRD_uc003zkl.2_Silent_p.L1368L|PTPRD_uc003zkm.2_Silent_p.L1364L|PTPRD_uc003zkn.2_Silent_p.L966L|PTPRD_uc003zko.2_Silent_p.L967L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1377	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTACTTCCAAGTTTGAATGT	0.378000										TSP Lung(15;0.13)		
BNC2	54796	broad.mit.edu	37	9	16436012	16436012	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:16436012T>C	uc003zml.2	-	6	2320	c.2180A>G	c.(2179-2181)GAG>GGG	p.E727G	BNC2_uc011lmw.1_Missense_Mutation_p.E632G|BNC2_uc003zmm.2_Missense_Mutation_p.E685G|BNC2_uc003zmq.1_Missense_Mutation_p.E741G|BNC2_uc003zmr.1_Missense_Mutation_p.E764G|BNC2_uc003zmp.1_Missense_Mutation_p.E755G|BNC2_uc010mij.1_Missense_Mutation_p.E649G|BNC2_uc011lmv.1_Missense_Mutation_p.E553G|BNC2_uc003zmo.1_Missense_Mutation_p.E649G|BNC2_uc003zmj.2_Missense_Mutation_p.E492G|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.E492G|BNC2_uc003zmn.1_Missense_Mutation_p.E492G	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)		CTCCGAAGACTCAGACTCGTT	0.507000												
ADAMTSL1	92949	broad.mit.edu	37	9	18680489	18680489	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:18680489A>C	uc003zne.3	+	11	1443	c.1316A>C	c.(1315-1317)AAA>ACA	p.K439T	ADAMTSL1_uc003znb.2_Missense_Mutation_p.K422T|ADAMTSL1_uc003znc.3_Missense_Mutation_p.K439T	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	439	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		GACTGCCCTAAATGGCTGGCA	0.527000												
CORO2A	7464	broad.mit.edu	37	9	100890891	100890891	+	Missense_Mutation	SNP	G	G	A	rs141466107		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:100890891G>A	uc004ayl.2	-	9	1344	c.1078C>T	c.(1078-1080)CGG>TGG	p.R360W	CORO2A_uc004aym.2_Missense_Mutation_p.R360W|CORO2A_uc004ayk.2_5'Flank	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	360				R -> G (in Ref. 1; AAB47807).	actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				GCCCTTACCCGCCGGGGCACA	0.607000												
SVEP1	79987	broad.mit.edu	37	9	113261433	113261433	+	Silent	SNP	C	C	T	rs3737156	by1000genomes	TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:113261433C>T	uc010mtz.2	-	7	1906	c.1569G>A	c.(1567-1569)ACG>ACA	p.T523T	SVEP1_uc010mua.1_Silent_p.T523T|SVEP1_uc004beu.2_Silent_p.T523T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	523	Sushi 3.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						CATAGCAGATCGTCCCAAATT	0.488000												
FKBP15	23307	broad.mit.edu	37	9	115959233	115959233	+	Silent	SNP	C	C	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:115959233C>A	uc004bgs.2	-	9	961	c.843G>T	c.(841-843)GTG>GTT	p.V281V	FKBP15_uc010muu.1_Silent_p.V345V|FKBP15_uc011lxd.1_Silent_p.V213V|FKBP15_uc010mut.1_Silent_p.V149V|FKBP15_uc004bgt.2_Silent_p.V281V	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	281	PPIase FKBP-type.				endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						CCACCTCGAACACCAGGATCG	0.463000												
TLR4	7099	broad.mit.edu	37	9	120476848	120476848	+	Silent	SNP	C	C	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:120476848C>G	uc004bjz.2	+	3	2733	c.2442C>G	c.(2440-2442)GCC>GCG	p.A814A	TLR4_uc004bka.2_Silent_p.A774A|TLR4_uc004bkb.2_Silent_p.A614A	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	814	Cytoplasmic (Potential).|TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.A814T(1)		lung(10)|ovary(4)|breast(1)|skin(1)	16						TCAGAAAAGCCCTGCTGGATG	0.507000												
LRSAM1	90678	broad.mit.edu	37	9	130249962	130249962	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:130249962G>A	uc004brb.1	+	18	1612	c.1267G>A	c.(1267-1269)GAA>AAA	p.E423K	LRSAM1_uc010mxk.1_Missense_Mutation_p.E423K|LRSAM1_uc004brc.1_Missense_Mutation_p.E423K|LRSAM1_uc004brd.1_Missense_Mutation_p.E423K|LRSAM1_uc004bre.1_Missense_Mutation_p.E3K	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif	423					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding				0						CAGCATGGCCGAAATGGATGA	0.358000												
GRIN1	2902	broad.mit.edu	37	9	140040199	140040199	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr9:140040199C>T	uc004clk.2	+	3	745	c.415C>T	c.(415-417)CGC>TGC	p.R139C	GRIN1_uc004cli.1_5'UTR|GRIN1_uc004clj.1_Missense_Mutation_p.R136C|GRIN1_uc004cll.2_Missense_Mutation_p.R139C|GRIN1_uc004clm.2_Missense_Mutation_p.R139C|GRIN1_uc004cln.2_Missense_Mutation_p.R136C|GRIN1_uc004clo.2_Missense_Mutation_p.R136C	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	NMDA receptor 1 isoform NR1-3 precursor	139	Extracellular (Potential).				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			skin(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GAGCTTCCTGCGCACCGTGCC	0.677000												
MXRA5	25878	broad.mit.edu	37	X	3261861	3261861	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:3261861G>A	uc004crg.3	-	2	171	c.14C>T	c.(13-15)GCG>GTG	p.A5V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	5						extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCCCAGTGCGCGCGCTTGGG	0.627000												
CXorf23	256643	broad.mit.edu	37	X	19947942	19947942	+	Silent	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:19947942G>A	uc004czp.2	-	10	1980	c.1980C>T	c.(1978-1980)ATC>ATT	p.I660I	CXorf23_uc010nfn.2_RNA|CXorf23_uc011mjg.1_Intron|CXorf23_uc004czo.2_Silent_p.I639I	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	hypothetical protein LOC256643	689						mitochondrion				lung(1)|skin(1)	2						ACTTATGAGTGATAAATCCCC	0.358000												
FAM47B	170062	broad.mit.edu	37	X	34962853	34962853	+	Silent	SNP	A	A	G			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:34962853A>G	uc004ddi.1	+	1	1923	c.1905A>G	c.(1903-1905)AAA>AAG	p.K635K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	635										ovary(3)|breast(1)	4						ACAAGTACAAAGAAGACGTCA	0.378000												
SLC35A2	7355	broad.mit.edu	37	X	48762575	48762575	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:48762575G>A	uc004dlo.1	-	4	615	c.611C>T	c.(610-612)GCA>GTA	p.A204V	SLC35A2_uc011mml.1_Missense_Mutation_p.A217V|SLC35A2_uc004dlp.1_Missense_Mutation_p.A204V|SLC35A2_uc011mmm.1_Missense_Mutation_p.A232V|SLC35A2_uc011mmn.1_Missense_Mutation_p.A143V|SLC35A2_uc004dlr.1_Intron|SLC35A2_uc004dlq.2_Intron	NM_005660	NP_005651	P78381	S35A2_HUMAN	solute carrier family 35, member A2 isoform a	204	Helical; (Potential).				galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)	1						CACGACGGCTGCCAGGCCTGC	0.642000												
PPP1R3F	89801	broad.mit.edu	37	X	49127037	49127037	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:49127037C>T	uc004dnh.1	+	1	721	c.705C>T	c.(703-705)GAC>GAT	p.D235D	PPP1R3F_uc011mnd.1_Intron|PPP1R3F_uc004dni.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	235	CBM21.|Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					CCTCGCCCGACGACGGCGGCC	0.726000												
LAS1L	81887	broad.mit.edu	37	X	64744084	64744084	+	Silent	SNP	G	G	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:64744084G>A	uc004dwa.1	-	10	1224	c.1152C>T	c.(1150-1152)CCC>CCT	p.P384P	LAS1L_uc004dwc.1_Silent_p.P367P|LAS1L_uc004dwd.1_Silent_p.P325P	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	LAS1-like	384						MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4						CCCTGAGCAGGGGCTGCCAGA	0.567000												
KLHL13	90293	broad.mit.edu	37	X	117043899	117043899	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:117043899A>C	uc004eql.2	-	5	793	c.731T>G	c.(730-732)CTT>CGT	p.L244R	KLHL13_uc004eqk.2_Missense_Mutation_p.L193R|KLHL13_uc011mtn.1_Missense_Mutation_p.L84R|KLHL13_uc011mto.1_Missense_Mutation_p.L238R|KLHL13_uc011mtp.1_Missense_Mutation_p.L246R|KLHL13_uc004eqm.2_Missense_Mutation_p.L193R|KLHL13_uc011mtq.1_Missense_Mutation_p.L228R	NM_033495	NP_277030	Q9P2N7	KLH13_HUMAN	kelch-like 13	244	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				kidney(1)|skin(1)	2						ATTACTGGAAAGCACGAAGGC	0.463000												
MAMLD1	10046	broad.mit.edu	37	X	149639247	149639247	+	Silent	SNP	T	T	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:149639247T>C	uc004fee.1	+	3	1478	c.1402T>C	c.(1402-1404)TTG>CTG	p.L468L	MAMLD1_uc011mxt.1_Silent_p.L430L|MAMLD1_uc011mxu.1_Silent_p.L443L|MAMLD1_uc011mxv.1_Silent_p.L443L|MAMLD1_uc011mxw.1_Silent_p.L395L	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	468					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCCCAGGCTTGCCACAGCA	0.498000												
ATP2B3	492	broad.mit.edu	37	X	152825250	152825250	+	Silent	SNP	C	C	T			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chrX:152825250C>T	uc004fht.1	+	16	2815	c.2689C>T	c.(2689-2691)CTG>TTG	p.L897L	ATP2B3_uc004fhs.1_Silent_p.L897L|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	plasma membrane calcium ATPase 3 isoform 3b	897	Helical; (Potential).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			pancreas(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTTGCCTCTCTGGCCCTGGC	0.592000												
HCN4	10021	broad.mit.edu	37	15	73615229	73615229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr15:73615229delG	uc002avp.2	-	8	4199	c.3205delC	c.(3205-3207)CGGfs	p.R1069fs		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	1069	Pro-rich.|Cytoplasmic (Potential).				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		GGTGTGCCCCGGCGCTGGGGG	0.726												
SLC4A10	57282	broad.mit.edu	37	2	162719565	162719566	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:162719565_162719566insA	uc002ubx.3	+	6	943_944	c.759_760insA	c.(757-762)GACAAAfs	p.D253fs	SLC4A10_uc010fpa.1_Frame_Shift_Ins_p.D265fs|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Frame_Shift_Ins_p.D253fs|SLC4A10_uc010zcs.1_Frame_Shift_Ins_p.D264fs	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	253_254	Cytoplasmic (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						ATTCCATGGACAAAAATGGTAA	0.332												
COL5A2	1290	broad.mit.edu	37	2	189915305	189915305	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:189915305delG	uc002uqk.2	-	43	3304	c.3029delC	c.(3028-3030)CCAfs	p.P1010fs	COL5A2_uc010frx.2_Frame_Shift_Del_p.P586fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1010					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CGCTGGGCCTGGTAGGCCGGG	0.493												
ANTXR2	118429	broad.mit.edu	37	4	80898743	80898743	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr4:80898743delA	uc003hlz.3	-	16	2223	c.1460delT	c.(1459-1461)CTAfs	p.L487fs	ANTXR2_uc003hly.3_Intron|ANTXR2_uc003hlx.1_Intron|ANTXR2_uc010ijn.2_Frame_Shift_Del_p.L384fs	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	anthrax toxin receptor 2 isoform 2	487	Cytoplasmic (Potential).					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			ovary(1)	1						TCAAGCAGTTAGCTCTTTCTC	0.418									Juvenile_Hyaline_Fibromatosis			
RASA1	5921	broad.mit.edu	37	5	86564739	86564740	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr5:86564739_86564740delCT	uc003kiw.2	+	1	589_590	c.471_472delCT	c.(469-474)GACTCTfs	p.D157fs	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_5'Flank|RASA1_uc011ctv.1_5'Flank|RASA1_uc011ctw.1_5'Flank|RASA1_uc010jaw.2_5'Flank|RASA1_uc011ctu.1_Frame_Shift_Del_p.D157fs	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	157_158					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACGAAGGTGACTCTCTGGATGG	0.594												
COL11A1	1301	broad.mit.edu	37	1	103355063	103355063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr1:103355062_103355062AC>A	uc001dum.3	-	58	4767	c.4449_4449GT>T	c.(4447-4449)ggtfs	p.G1483fs	COL11A1_uc001duk.3_Frame_Shift_Del_p.G667fs|COL11A1_uc001dul.3_Frame_Shift_Del_p.G1471fs|COL11A1_uc001dun.3_Frame_Shift_Del_p.G1432fs|COL11A1_uc009weh.3_Frame_Shift_Del_p.G1355fs	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1471	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCCTCGGTCACCTTTTTCCC	0.408												
WBP1	23559	broad.mit.edu	37	2	74687410	74687411	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:74687409_74687410A>AC	uc002slj.2	+	3	614_615	c.411_412A>AC	c.(409-414)ccacccfs	p.P137fs	INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002sll.2_Non-coding_Transcript	NM_012477	NP_036609	Q96G27	WBP1_HUMAN	Homo sapiens WW domain binding protein 1 (WBP1), mRNA.	137							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						CAGGCACACCACCCCCCCCTTA	0.584												
SLC4A10	57282	broad.mit.edu	37	2	162719566	162719567	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr2:162719565_162719566C>CA	uc002ubx.4	+	5	943_944	c.759_760C>CA	c.(757-762)gacaaafs	p.D253fs	SLC4A10_uc010fpa.1_Frame_Shift_Ins_p.D265fs|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Frame_Shift_Ins_p.D264fs|SLC4A10_uc002uby.4_Frame_Shift_Ins_p.D253fs	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	253					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATTCCATGGACAAAAATGGTAA	0.332												
PBLD	64081	broad.mit.edu	37	10	70051949	70051950	+	In_Frame_Ins	INS	-	-	TAGTTCTCC			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr10:70051948_70051949T>TTAGTTCTCC	uc001jns.1	-	4	533_534	c.330_331A>GGAGAACTAA	c.(328-333)ctaagg>ctGGAGAACTAAgg	p.111_111R>EN*	PBLD_uc001jnr.1_In_Frame_Ins_p.78_78R>EN*|PBLD_uc001jnt.1_In_Frame_Ins_p.111_111R>EN*|PBLD_uc001jnu.1_In_Frame_Ins_p.111_111R>EN*|PBLD_uc001jnv.1_In_Frame_Ins_p.78_78R>EN*	NM_022129	NP_071412	P30039	PBLD_HUMAN	Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA.	111					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CGTCTGGCCCTTAGTTCTCCAC	0.455												
PDE2A	5138	broad.mit.edu	37	11	72307657	72307658	+	Frame_Shift_Ins	INS	-	-	C	rs142944983		TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr11:72307656_72307657G>GC	uc010rrc.2	-	5	715_716	c.469_470C>GC	c.(469-471)gccfs	p.A157fs	PDE2A_uc001oso.3_Frame_Shift_Ins_p.A136fs|PDE2A_uc010rra.2_Frame_Shift_Ins_p.A150fs|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Frame_Shift_Ins_p.A148fs|PDE2A_uc010rrd.2_Intron	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	157					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AGCTGCCACGGCCCCAGCCTCC	0.644												
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr19:38948158_38948159C>CTG	uc002oit.3	+	16	1943_1944	c.1813_1814C>CTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_uc002oiu.3_Frame_Shift_Ins_p.L605fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTATGCTCCCTGTGTGTGTGT	0.535												
ALG12	79087	broad.mit.edu	37	22	50302920	50302921	+	In_Frame_Ins	INS	-	-	GTG			TCGA-BR-8286-01A-12D-2340-08	TCGA-BR-8286-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e0d70de9-86fb-406d-8959-9089f3a44127	8fb6969d-2604-44c5-88ff-6fdd69c9a472	g.chr22:50302919_50302920A>AGTG	uc003biy.3	-	5	1014_1015	c.740_741T>CACT	c.(739-741)act>aCACT	p.T247T		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	247					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGTTCAGGACAGTGTTGTACCA	0.535												
