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
E2F2	1870	broad.mit.edu	37	1	23845525	23845525	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:23845525C>T	uc001bhe.1	-	5	1263	c.835G>A	c.(835-837)GTG>ATG	p.V279M		NM_004091	NP_004082	Q14209	E2F2_HUMAN	E2F transcription factor 2	279	Dimerization (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(2)|skin(2)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTGTCGGGCACTTCCAGTCTC	0.577000												
MRPS15	64960	broad.mit.edu	37	1	36921446	36921446	+	Silent	SNP	C	C	G			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:36921446C>G	uc001cas.2	-	8	881	c.717G>C	c.(715-717)CGG>CGC	p.R239R		NM_031280	NP_112570	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15 precursor	239					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGGTTCCTCCGCTTTGCTT	0.468000												
SLC6A17	388662	broad.mit.edu	37	1	110734707	110734707	+	Silent	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:110734707C>T	uc009wfq.2	+	7	1439	c.978C>T	c.(976-978)GAC>GAT	p.D326D	SLC6A17_uc001dze.1_5'Flank	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	326	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ATAAGCAGGACAACAACTGCC	0.577000												
SLC6A17	388662	broad.mit.edu	37	1	110741056	110741056	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:110741056C>T	uc009wfq.2	+	12	2635	c.2174C>T	c.(2173-2175)TCG>TTG	p.S725L		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	solute carrier family 6, member 17	725	Cytoplasmic (Potential).				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			ovary(1)|pancreas(1)	2		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACCCCTGAGTCGGAGCTGTGA	0.667000												
POGZ	23126	broad.mit.edu	37	1	151378545	151378545	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:151378545G>A	uc001eyd.1	-	19	3272	c.2966C>T	c.(2965-2967)ACA>ATA	p.T989I	POGZ_uc001eye.1_Missense_Mutation_p.T936I|POGZ_uc010pdb.1_Missense_Mutation_p.T980I|POGZ_uc001eyf.1_Missense_Mutation_p.T945I|POGZ_uc010pdc.1_Missense_Mutation_p.T927I|POGZ_uc009wmv.1_Missense_Mutation_p.T894I|POGZ_uc010pdd.1_Missense_Mutation_p.T480I	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	989					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCTGTTCTGTATTGCAGCA	0.522000												
FLG	2312	broad.mit.edu	37	1	152281969	152281969	+	Missense_Mutation	SNP	C	C	T	rs141235242		TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:152281969C>T	uc001ezu.1	-	3	5429	c.5393G>A	c.(5392-5394)CGA>CAA	p.R1798Q		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1798	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCTGTCTCGTGCCTGCTC	0.597000									Ichthyosis			
INSRR	3645	broad.mit.edu	37	1	156823679	156823679	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:156823679C>T	uc010pht.1	-	2	756	c.502G>A	c.(502-504)GTG>ATG	p.V168M	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.V168M	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	168					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGTTGCCCACGATGTGGTTG	0.642000												
CACNA1E	777	broad.mit.edu	37	1	181724429	181724429	+	Silent	SNP	G	G	C			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:181724429G>C	uc001gow.2	+	28	4050	c.3885G>C	c.(3883-3885)GTG>GTC	p.V1295V	CACNA1E_uc009wxs.2_Silent_p.V1183V|CACNA1E_uc001gox.1_Silent_p.V521V|CACNA1E_uc009wxt.2_Silent_p.V521V	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1295	III.|Helical; Name=S5 of repeat III.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TACTCATTGTGTACAAGCTCT	0.478000												
HMCN1	83872	broad.mit.edu	37	1	185958651	185958651	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:185958651A>C	uc001grq.1	+	21	3309	c.3080A>C	c.(3079-3081)AAG>ACG	p.K1027T	HMCN1_uc001grr.1_Missense_Mutation_p.K368T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	1027	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						AGCAGTGCTAAGTTTTCAGCA	0.463000												
LRRN2	10446	broad.mit.edu	37	1	204587730	204587730	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:204587730C>T	uc001hbe.1	-	3	1779	c.1391G>A	c.(1390-1392)CGA>CAA	p.R464Q	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.R464Q|LRRN2_uc009xbf.1_Missense_Mutation_p.R464Q|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	464	Ig-like C2-type.|Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGTGTCAGTCGAAGCCCAGC	0.637000												
TRIM58	25893	broad.mit.edu	37	1	248039564	248039564	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr1:248039564G>T	uc001ido.2	+	6	1282	c.1234G>T	c.(1234-1236)GGG>TGG	p.G412W	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	412	B30.2/SPRY.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCGCTGCATTGGGATTTTCTT	0.478000												
SFMBT2	57713	broad.mit.edu	37	10	7409662	7409662	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr10:7409662G>T	uc009xio.1	-	4	476	c.385C>A	c.(385-387)CAC>AAC	p.H129N	SFMBT2_uc001ijn.1_Missense_Mutation_p.H129N|SFMBT2_uc010qay.1_Missense_Mutation_p.H129N|SFMBT2_uc001ijo.1_Missense_Mutation_p.H129N	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	129	MBT 1.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						CCCACGGGGTGCAAATCCGCG	0.597000												
CDH23	64072	broad.mit.edu	37	10	73537641	73537641	+	Missense_Mutation	SNP	C	C	T	rs111033522		TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr10:73537641C>T	uc001jrx.3	+	37	5427	c.5050C>T	c.(5050-5052)CGC>TGC	p.R1684C		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	cadherin-like 23 isoform 1 precursor	1684	Cadherin 16.|Extracellular (Potential).				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			central_nervous_system(5)|large_intestine(4)|ovary(2)	11						CAACACCTTCCGCATCGACAG	0.567000												
INA	9118	broad.mit.edu	37	10	105037351	105037351	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr10:105037351C>T	uc001kws.2	+	1	432	c.383C>T	c.(382-384)GCG>GTG	p.A128V	uc001kwr.2_5'Flank|INA_uc009xxj.2_Missense_Mutation_p.A128V	NM_032727	NP_116116	Q16352	AINX_HUMAN	internexin neuronal intermediate filament	128	Coil 1A.|Rod.			ALRQR -> RCDT (in Ref. 1; AAB34482).	cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			ovary(1)|breast(1)	2				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GAGCTGGCCGCGCTGCGACAG	0.706000												
RGS10	6001	broad.mit.edu	37	10	121285598	121285598	+	Silent	SNP	A	A	G			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr10:121285598A>G	uc001lee.2	-	2	177	c.177T>C	c.(175-177)AAT>AAC	p.N59N	RGS10_uc001lef.2_Silent_p.N53N|RGS10_uc001leg.2_Silent_p.N67N	NM_002925	NP_002916	O43665	RGS10_HUMAN	regulator of G-protein signaling 10 isoform b	59	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		AAAACAAAACATTTTCTTCAC	0.289000												
DCHS1	8642	broad.mit.edu	37	11	6652092	6652092	+	Silent	SNP	C	C	G			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr11:6652092C>G	uc001mem.1	-	10	4343	c.3933G>C	c.(3931-3933)GTG>GTC	p.V1311V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1311	Cadherin 12.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAGGGAAGCACCTGTTGTG	0.637000												
C11orf58	10944	broad.mit.edu	37	11	16776574	16776574	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr11:16776574G>A	uc001mmk.2	+	5	653	c.475G>A	c.(475-477)GAA>AAA	p.E159K	C11orf58_uc010rct.1_Missense_Mutation_p.E115K	NM_014267	NP_055082	O00193	SMAP_HUMAN	small acidic protein isoform a	159											0						GCACCCTGATGAAGTGGAGGA	0.388000												
CD163	9332	broad.mit.edu	37	12	7640475	7640475	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr12:7640475T>G	uc001qsz.3	-	7	1757	c.1629A>C	c.(1627-1629)GAA>GAC	p.E543D	CD163_uc001qta.3_Missense_Mutation_p.E543D|CD163_uc009zfw.2_Missense_Mutation_p.E543D	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	543	SRCR 5.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						ACTGGAATTCTTCAGCCCAGA	0.532000												
C12orf59	120939	broad.mit.edu	37	12	10339108	10339108	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr12:10339108G>T	uc001qxr.2	+	4	844	c.227G>T	c.(226-228)GGG>GTG	p.G76V	C12orf59_uc001qxq.2_Missense_Mutation_p.G56V			Q4KMG9	CL059_HUMAN	RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor;	76						integral to membrane				ovary(1)	1						CAGCAAAATGGGGAAGATGGG	0.552000												
PRB3	5544	broad.mit.edu	37	12	11420206	11420206	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr12:11420206C>T	uc001qzs.2	-	4	888	c.850G>A	c.(850-852)GCT>ACT	p.A284T	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	284	Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGCTTTCCAGCGGGAGGTGGC	0.617000												
N4BP2L2	10443	broad.mit.edu	37	13	33016566	33016566	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr13:33016566A>T	uc010abe.1	-	7	2130	c.2108T>A	c.(2107-2109)TTT>TAT	p.F703Y	N4BP2L2_uc001uug.2_Missense_Mutation_p.F586Y|N4BP2L2_uc010abd.1_Missense_Mutation_p.F616Y|N4BP2L2_uc001uuh.2_Missense_Mutation_p.F534Y|N4BP2L2_uc001uuj.2_Missense_Mutation_p.F122Y|N4BP2L2_uc010tdz.1_Missense_Mutation_p.F688Y	NM_033111	NP_149102	Q92802	N42L2_HUMAN	phosphonoformate immuno-associated protein 5	Error:Variant_position_missing_in_Q92802_after_alignment											0		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TACTAATTGAAAGGCAAACCC	0.393000												
SOHLH2	54937	broad.mit.edu	37	13	36748951	36748951	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr13:36748951C>G	uc001uvj.2	-	7	786	c.697G>C	c.(697-699)GGG>CGG	p.G233R	SOHLH2_uc010tei.1_Missense_Mutation_p.G310R	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic	233	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TTCTTTCTCCCTTTTACATAC	0.408000												
SLC12A1	6557	broad.mit.edu	37	15	48500152	48500152	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr15:48500152C>T	uc001zwn.3	+	2	452	c.236C>T	c.(235-237)ACT>ATT	p.T79I	SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.T79I|SLC12A1_uc010uex.1_Missense_Mutation_p.T79I	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	79	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGTGGAGAAACTGCTAAAACA	0.428000												
BNC1	646	broad.mit.edu	37	15	83935703	83935703	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr15:83935703C>T	uc002bjt.1	-	3	408	c.320G>A	c.(319-321)CGC>CAC	p.R107H	BNC1_uc010uos.1_Missense_Mutation_p.R95H	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	107					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R107C(1)		ovary(3)	3						GATTTTTAGGCGAACGGGGAT	0.507000												
BNC1	646	broad.mit.edu	37	15	83936914	83936914	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr15:83936914T>A	uc002bjt.1	-	2	258	c.170A>T	c.(169-171)GAC>GTC	p.D57V	BNC1_uc010uos.1_Missense_Mutation_p.D45V	NM_001717	NP_001708	Q01954	BNC1_HUMAN	basonuclin 1	57					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CTTGCATTGGTCACACTGACG	0.443000												
PKD1	5310	broad.mit.edu	37	16	2160623	2160623	+	Silent	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr16:2160623G>A	uc002cos.1	-	15	4754	c.4545C>T	c.(4543-4545)CAC>CAT	p.H1515H	PKD1_uc002cot.1_Silent_p.H1515H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	polycystin 1 isoform 1 precursor	1515	Extracellular (Potential).|PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			central_nervous_system(2)|skin(1)	3						TGTTGTAAGCGTGGGTGACCT	0.667000												
BTBD12	84464	broad.mit.edu	37	16	3639156	3639156	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr16:3639156C>T	uc002cvp.2	-	12	5110	c.4483G>A	c.(4483-4485)GCG>ACG	p.A1495T		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	1495	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						AGGGAGCCCGCGCCCGAGGAC	0.647000								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
ITGAD	3681	broad.mit.edu	37	16	31424208	31424208	+	Missense_Mutation	SNP	C	C	T	rs144853512		TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr16:31424208C>T	uc002ebv.1	+	15	1806	c.1757C>T	c.(1756-1758)GCG>GTG	p.A586V	ITGAD_uc010cap.1_Missense_Mutation_p.A587V	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor	586	Extracellular (Potential).|FG-GAP 7.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						TTTGGGCAGGCGCTGAGTGGG	0.627000												
CDH11	1009	broad.mit.edu	37	16	65038662	65038662	+	Silent	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr16:65038662C>T	uc002eoi.2	-	3	545	c.111G>A	c.(109-111)GGG>GGA	p.G37G	CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Silent_p.G37G|CDH11_uc010vin.1_Intron|CDH11_uc010vio.1_Silent_p.G37G	NM_001797	NP_001788	P55287	CAD11_HUMAN	cadherin 11, type 2 preproprotein	37					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			lung(10)|ovary(3)|skin(1)	14		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TCTCATGGTGCCCATGGAAGG	0.637000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)		
EIF5A	1984	broad.mit.edu	37	17	7212989	7212989	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:7212989C>T	uc010vtv.1	+	2	272	c.35C>T	c.(34-36)GCA>GTA	p.A12V	EIF5A_uc002gfr.2_Missense_Mutation_p.A42V|EIF5A_uc010vtu.1_Nonsense_Mutation_p.Q2*|EIF5A_uc002gft.2_Missense_Mutation_p.A12V|EIF5A_uc002gfu.2_Missense_Mutation_p.A12V	NM_001970	NP_001961	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	12					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding				0						ACAGGAGATGCAGGGGCCTCA	0.493000												
GLP2R	9340	broad.mit.edu	37	17	9763299	9763299	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:9763299A>G	uc002gmd.1	+	7	806	c.806A>G	c.(805-807)TAC>TGC	p.Y269C		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	269	Helical; Name=3; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	CTCTTGCATTACTTTGTGGGT	0.577000												
NOS2	4843	broad.mit.edu	37	17	26097998	26097998	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:26097998G>A	uc002gzu.2	-	15	2014	c.1750C>T	c.(1750-1752)CGG>TGG	p.R584W	NOS2_uc010crh.1_Missense_Mutation_p.R584W|NOS2_uc010wab.1_Intron	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	584	Flavodoxin-like.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AACAGCAGCCGTTCCTCCTCC	0.607000												
KRT17	3872	broad.mit.edu	37	17	39779266	39779266	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:39779266C>T	uc002hxh.2	-	2	572	c.451G>A	c.(451-453)GAC>AAC	p.D151N	JUP_uc010wfs.1_Intron|KRT17_uc010wft.1_Missense_Mutation_p.D151N	NM_000422	NP_000413	Q04695	K1C17_HUMAN	keratin 17	151	Coil 1B.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2		Breast(137;0.000307)				TTGGCATTGTCCACGGTGGCT	0.582000									Steatocystoma_Multiplex			
MTMR4	9110	broad.mit.edu	37	17	56572740	56572740	+	Silent	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:56572740C>T	uc002iwj.2	-	16	2873	c.2763G>A	c.(2761-2763)GAG>GAA	p.E921E		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	921						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGGGGTGGCCTCCCCACTTG	0.577000												
ATP8B3	148229	broad.mit.edu	37	19	1785665	1785665	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr19:1785665C>T	uc002ltw.2	-	26	3430	c.3196G>A	c.(3196-3198)GTG>ATG	p.V1066M	ATP8B3_uc002ltv.2_Missense_Mutation_p.V1029M|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	1066	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCCACCACGTACAGCTCC	0.597000												
MYO1F	4542	broad.mit.edu	37	19	8613192	8613192	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr19:8613192G>A	uc002mkg.2	-	11	1225	c.1111C>T	c.(1111-1113)CGT>TGT	p.R371C	MYO1F_uc002mkh.2_Missense_Mutation_p.P372L	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	371	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						TGCATAGCACGGTTGATGGCC	0.592000												
ZNF426	79088	broad.mit.edu	37	19	9646889	9646889	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr19:9646889G>T	uc002mlq.2	-	3	284	c.20C>A	c.(19-21)TCC>TAC	p.S7Y	ZNF426_uc010dws.2_5'UTR|uc002mlr.2_5'Flank|uc002mls.2_5'Flank	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	zinc finger protein 426	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CTTACCATGGGACAAATCAGC	0.463000												
PEG3	5178	broad.mit.edu	37	19	57335705	57335705	+	Nonsense_Mutation	SNP	G	G	A	rs141346770	by1000genomes	TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr19:57335705G>A	uc002qnu.2	-	1	670	c.319C>T	c.(319-321)CGA>TGA	p.R107*	ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Nonsense_Mutation_p.R107*|PEG3_uc002qnv.2_Nonsense_Mutation_p.R107*|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Nonsense_Mutation_p.R107*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	107	SCAN box.				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)		TTTTTTGCTCGCACCCAAGGC	0.537000												
CNTNAP5	129684	broad.mit.edu	37	2	125204448	125204448	+	Silent	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr2:125204448G>A	uc002tno.2	+	6	1216	c.852G>A	c.(850-852)ACG>ACA	p.T284T	CNTNAP5_uc010flu.2_Silent_p.T284T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	284	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAACTTCACGGTGGACAAGC	0.602000												
COL4A3	1285	broad.mit.edu	37	2	228128561	228128561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr2:228128561C>T	uc002vom.1	+	21	1378	c.1216C>T	c.(1216-1218)CGA>TGA	p.R406*	COL4A3_uc002von.1_Nonsense_Mutation_p.R406*|COL4A3_uc002voo.1_Nonsense_Mutation_p.R406*|COL4A3_uc002vop.1_Nonsense_Mutation_p.R406*|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	406	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TAAAGGGGAACGAGGCCGCCC	0.562000												
SULF2	55959	broad.mit.edu	37	20	46292252	46292252	+	Silent	SNP	G	G	T	rs150627838	by1000genomes	TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr20:46292252G>T	uc002xto.2	-	16	2502	c.2172C>A	c.(2170-2172)GGC>GGA	p.G724G	SULF2_uc002xtr.2_Silent_p.G724G|SULF2_uc002xtq.2_Silent_p.G724G|SULF2_uc010zyd.1_Silent_p.G3G	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	724					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6						AGCACGTGAGGCCTGGCATGC	0.622000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GRIK1	2897	broad.mit.edu	37	21	31062214	31062214	+	Silent	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr21:31062214G>A	uc002yno.1	-	3	842	c.378C>T	c.(376-378)CTC>CTT	p.L126L	GRIK1_uc002ynn.2_Silent_p.L126L|GRIK1_uc011acs.1_Silent_p.L126L|GRIK1_uc011act.1_Silent_p.L70L|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Silent_p.L126L	NM_000830	NP_000821	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	126	Extracellular (Potential).				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			large_intestine(1)|ovary(1)|skin(1)	3					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTGGAACTTCGAGAGCATTGC	0.517000												
TIAM1	7074	broad.mit.edu	37	21	32638956	32638956	+	Silent	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr21:32638956G>A	uc002yow.1	-	5	805	c.333C>T	c.(331-333)AGC>AGT	p.S111S	TIAM1_uc011adk.1_Silent_p.S111S|TIAM1_uc011adl.1_Silent_p.S111S|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	111					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TGCTGTCTACGCTGGGAGTGA	0.557000												
MTMR14	64419	broad.mit.edu	37	3	9743656	9743656	+	Silent	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:9743656G>A	uc003brz.2	+	19	2076	c.1952G>A	c.(1951-1953)TGA>TAA	p.*651*	MTMR14_uc003bsa.2_Silent_p.*599*|MTMR14_uc003bsb.2_Silent_p.*539*|MTMR14_uc011ath.1_RNA|MTMR14_uc010hcl.2_Silent_p.*293*|MTMR14_uc003bsc.2_RNA|CPNE9_uc003bsd.2_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	651						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)					AATGCCTTGTGAAGAAGCCAG	0.597000												
SATB1	6304	broad.mit.edu	37	3	18390823	18390823	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:18390823C>T	uc003cbh.2	-	11	3866	c.2131G>A	c.(2131-2133)GGT>AGT	p.G711S	SATB1_uc003cbi.2_Missense_Mutation_p.G743S|SATB1_uc003cbj.2_Missense_Mutation_p.G711S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	711					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						ACCTCTAAACCGGAATTGTCC	0.448000												
DYNC1LI1	51143	broad.mit.edu	37	3	32582626	32582626	+	Missense_Mutation	SNP	G	G	A	rs61729578		TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:32582626G>A	uc003cfb.3	-	5	729	c.641C>T	c.(640-642)GCG>GTG	p.A214V	DYNC1LI1_uc011axh.1_Missense_Mutation_p.A98V	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain	214					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1						TTCTTGTGACGCAGTATTTCT	0.413000												
SCN10A	6336	broad.mit.edu	37	3	38812885	38812885	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:38812885C>A	uc003ciq.2	-	4	484	c.484G>T	c.(484-486)GTC>TTC	p.V162F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	162	Helical; Name=S2 of repeat I; (Potential).|I.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTGTAAATGACAGTGAAGACA	0.468000												
CNTN3	5067	broad.mit.edu	37	3	74383974	74383974	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:74383974G>A	uc003dpm.1	-	12	1660	c.1580C>T	c.(1579-1581)CCG>CTG	p.P527L		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	527	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GTCTAACAGCGGGTCATGTTG	0.418000												
HTR3C	170572	broad.mit.edu	37	3	183772605	183772605	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr3:183772605G>A	uc003fmk.2	+	2	198	c.164G>A	c.(163-165)CGT>CAT	p.R55H		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine receptor 3 subunit C	55	Extracellular (Potential).					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AAGGCCTTCCGTCCATTCACC	0.517000												
PSAPL1	768239	broad.mit.edu	37	4	7435637	7435637	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr4:7435637C>T	uc011bwj.1	-	1	1064	c.970G>A	c.(970-972)GTG>ATG	p.V324M	SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	prosaposin-like protein 1	324	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome					0						ACCGAGCACACGCGCTCCAGG	0.572000												
KLHL5	51088	broad.mit.edu	37	4	39088222	39088222	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr4:39088222A>T	uc003gts.2	+	5	1201	c.1126A>T	c.(1126-1128)AAC>TAC	p.N376Y	KLHL5_uc003gtp.2_Missense_Mutation_p.N330Y|KLHL5_uc003gtq.2_Missense_Mutation_p.N189Y|KLHL5_uc003gtr.1_Missense_Mutation_p.N376Y|KLHL5_uc003gtt.2_Missense_Mutation_p.N315Y	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	kelch-like 5 isoform 1	376						cytoplasm|cytoskeleton	actin binding			ovary(1)	1						TGATGACATGAACATTCCTAA	0.388000												
EGF	1950	broad.mit.edu	37	4	110915914	110915914	+	Silent	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr4:110915914G>A	uc003hzy.3	+	20	3335	c.2883G>A	c.(2881-2883)AGG>AGA	p.R961R	EGF_uc011cfu.1_Silent_p.R919R|EGF_uc011cfv.1_Silent_p.R920R|EGF_uc010imk.2_Silent_p.R109R	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	961	Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CTCACCTCAGGGAAGATGACC	0.433000												
IRX4	50805	broad.mit.edu	37	5	1878831	1878831	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:1878831G>A	uc003jcz.2	-	5	931	c.812C>T	c.(811-813)CCG>CTG	p.P271L	IRX4_uc011cmf.1_Missense_Mutation_p.P132L	NM_016358	NP_057442	P78413	IRX4_HUMAN	iroquois homeobox 4	271					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(108;0.242)		CTCGCACGCCGGCGGCTCTGC	0.697000												
CDH12	1010	broad.mit.edu	37	5	21975261	21975261	+	Silent	SNP	A	A	G			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:21975261A>G	uc010iuc.2	-	3	923	c.465T>C	c.(463-465)GAT>GAC	p.D155D	CDH12_uc011cno.1_Silent_p.D155D|CDH12_uc003jgk.2_Silent_p.D155D	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	155	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TTGGCTCATTATCATTAATAT	0.418000										HNSCC(59;0.17)		
PDZD2	23037	broad.mit.edu	37	5	32069712	32069712	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:32069712G>A	uc003jhl.2	+	15	2877	c.2489G>A	c.(2488-2490)AGC>AAC	p.S830N	PDZD2_uc003jhm.2_Missense_Mutation_p.S830N|PDZD2_uc011cnx.1_Missense_Mutation_p.S656N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	830					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						ATAGCACGCAGCACTTATCAG	0.383000												
RAPGEF6	51735	broad.mit.edu	37	5	130764705	130764705	+	Missense_Mutation	SNP	T	T	C	rs147369850	byFrequency	TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:130764705T>C	uc003kvn.1	-	27	4876	c.4670A>G	c.(4669-4671)AAC>AGC	p.N1557S	RAPGEF6_uc003kvp.1_Missense_Mutation_p.N1607S|RAPGEF6_uc003kvo.1_Intron|RAPGEF6_uc010jdi.1_Missense_Mutation_p.N1565S|RAPGEF6_uc010jdj.1_Intron|RAPGEF6_uc003kvm.1_Missense_Mutation_p.N480S	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	PDZ domain-containing guanine nucleotide	1557					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			ovary(1)|lung(1)|central_nervous_system(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GGCCACGAGGTTGCTACTGAG	0.478000												
PCDHA3	56145	broad.mit.edu	37	5	140182227	140182227	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:140182227C>T	uc003lhf.2	+	1	1445	c.1445C>T	c.(1444-1446)GCG>GTG	p.A482V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A482V	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	482	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	p.A482V(1)		ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGGACGCGGACGCGCAG	0.667000												
PCDHA4	56144	broad.mit.edu	37	5	140187213	140187213	+	Silent	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:140187213G>A	uc003lhi.2	+	1	542	c.441G>A	c.(439-441)CCG>CCA	p.P147P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.P147P|PCDHA4_uc011daa.1_Silent_p.P147P	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4 isoform 1 precursor	147	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCAGGCCGCTTGACTCTC	0.542000												
PCDHGA6	56109	broad.mit.edu	37	5	140753830	140753830	+	Silent	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:140753830G>A	uc003ljy.1	+	1	180	c.180G>A	c.(178-180)GCG>GCA	p.A60A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.A60A	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	60	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGTTGGCGGAGCACGGAG	0.602000												
BAT2	7916	broad.mit.edu	37	6	31599008	31599008	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr6:31599008G>A	uc003nvb.3	+	16	2807	c.2558G>A	c.(2557-2559)CGC>CAC	p.R853H	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.R853H	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	853	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CCAATCTCTCGCTTTCCTCTG	0.612000												
BAI3	577	broad.mit.edu	37	6	70042852	70042852	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr6:70042852T>G	uc003pev.3	+	24	3588	c.3140T>G	c.(3139-3141)CTT>CGT	p.L1047R	BAI3_uc010kak.2_Missense_Mutation_p.L1047R|BAI3_uc011dxx.1_Missense_Mutation_p.L253R|BAI3_uc003pex.1_Missense_Mutation_p.L177R	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1047	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TTTAATAAACTTGTTTCCAGA	0.383000												
FNDC1	84624	broad.mit.edu	37	6	159644628	159644628	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr6:159644628T>C	uc010kjv.2	+	7	1035	c.835T>C	c.(835-837)TCC>CCC	p.S279P	FNDC1_uc010kjw.1_Missense_Mutation_p.S227P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	279	Fibronectin type-III 3.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGTGCTTGTGTCCTGGGTGGA	0.428000												
ADAM7	8756	broad.mit.edu	37	8	24333950	24333950	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr8:24333950G>A	uc003xeb.2	+	8	751	c.638G>A	c.(637-639)CGC>CAC	p.R213H	ADAM7_uc003xec.2_5'UTR	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	a disintegrin and metalloproteinase domain 7	213	Peptidase M12B.|Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(1)|kidney(1)	5		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ttCCAGTATCGCAGAAATGGT	0.289000												
WRN	7486	broad.mit.edu	37	8	30977907	30977907	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr8:30977907T>G	uc003xio.3	+	21	3385	c.2597T>G	c.(2596-2598)GTC>GGC	p.V866G	WRN_uc010lvk.2_Missense_Mutation_p.V333G	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	866	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TCTTGTCACGTCCTCTGGGCT	0.373000			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
DBC1	1620	broad.mit.edu	37	9	121929663	121929663	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr9:121929663A>T	uc004bkc.2	-	8	2441	c.1985T>A	c.(1984-1986)CTG>CAG	p.L662Q		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	662					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						GTTGAACCTCAGGCTATACCC	0.577000												
STXBP1	6812	broad.mit.edu	37	9	130439015	130439015	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr9:130439015G>A	uc004brl.2	+	15	1539	c.1342G>A	c.(1342-1344)GTG>ATG	p.V448M	STXBP1_uc004brk.2_Missense_Mutation_p.V448M	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	448					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1						TCACCTCGGCGTGCCCATCGT	0.577000												
UBAC1	10422	broad.mit.edu	37	9	138830109	138830109	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr9:138830109G>A	uc004cgt.2	-	9	1279	c.1061C>T	c.(1060-1062)CCG>CTG	p.P354L	UBAC1_uc004cgs.1_Missense_Mutation_p.P354L|UBAC1_uc004cgu.2_RNA	NM_016172	NP_057256	Q9BSL1	UBAC1_HUMAN	ubiquitin associated domain containing 1	354	STI1.					Golgi apparatus|plasma membrane	protein binding			skin(2)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CTGCACCACCGGGTTATCCAG	0.612000												
RAD50	10111	broad.mit.edu	37	5	131915059	131915059	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:131915059delA	uc003kxi.2	+	4	803	c.416delA	c.(415-417)GAAfs	p.E139fs	RAD50_uc003kxg.1_Frame_Shift_Del_p.E40fs|RAD50_uc003kxh.2_5'UTR	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	139					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTGACCGAGAAATGATCAGT	0.373								Homologous_recombination				
MSX2	4488	broad.mit.edu	37	5	174151710	174151710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr5:174151710delG	uc003mcy.2	+	1	136	c.48delG	c.(46-48)GAGfs	p.E16fs		NM_002449	NP_002440	P35548	MSX2_HUMAN	msh homeobox 2	16					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCGACGAGGAGGGCCCAGCAG	0.701												
ZFP36L2	678	broad.mit.edu	37	2	43452465	43452466	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr2:43452464_43452465C>CG	uc002rsv.4	-	1	769_770	c.478_479G>CG	c.(478-480)cggfs	p.R160fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	160					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCGAAGGGCCGGCACAGCTCG	0.649												
ACVR2A	92	broad.mit.edu	37	2	148657061	148657072	+	In_Frame_Del	DEL	GTATATTTTTGT	GTATATTTTTGT	-			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr2:148657060_148657071AGTATATTTTTGT>A	uc002twg.3	+	3	566_577	c.297_308AGTATATTTTTGT>A	c.(295-309)gaagtatatttttgt>gaAt	p.VYFC100del	ACVR2A_uc010zbn.2_5'UTR|ACVR2A_uc002twh.3_In_Frame_Del_p.VYFC100del	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	100					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ACAGCCCTGAAGTATATTTTTGTTGCTGTGAG	0.330												
ATP8A2	51761	broad.mit.edu	37	13	26153948	26153949	+	Frame_Shift_Ins	INS	-	-	TT	rs149507990	by1000genomes	TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr13:26153947_26153948C>CTT	uc001uqk.3	+	21	2011_2012	c.1869_1870C>CTT	c.(1867-1872)ggcttgfs	p.G623fs	ATP8A2_uc010tdi.2_Frame_Shift_Ins_p.G583fs|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Frame_Shift_Ins_p.G133fs	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	583					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GTCTTGCAGGCTTGCGGACTCT	0.520												
SF3B3	23450	broad.mit.edu	37	16	70563084	70563085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr16:70563083_70563084A>AG	uc002ezf.3	+	2	589_590	c.378_379A>AG	c.(376-381)aaagggfs	p.K126fs	SNORD111B_uc010cfv.2_5'Flank	NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	126					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGATCCCAAAGGGCGAGCCGT	0.450												
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653												
SOX9	6662	broad.mit.edu	37	17	70119763	70119764	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-BR-8367-01A-11D-2340-08	TCGA-BR-8367-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788a2cc6-835a-4488-8376-d90219cc8b4c	49eedbb4-f152-4cbd-aaf2-cb7cf4d51be0	g.chr17:70119762_70119763A>AGG	uc002jiw.3	+	2	1136_1137	c.764_765A>AGG	c.(763-765)gagfs	p.E255fs	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	255					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding	p.R257fs*23(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CTGAAGCGAGAGGGGCGCCCCT	0.639