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
CELA3A	10136	broad.mit.edu	37	1	22329534	22329534	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:22329534C>T	uc001bfl.2	+	2	101	c.82C>T	c.(82-84)CGC>TGC	p.R28C	CELA3B_uc009vqf.2_Intron	NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	28					cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity			haematopoietic_and_lymphoid_tissue(1)	1						CTCTTCCAGCCGCGTTGTCCA	0.572000												
MACF1	23499	broad.mit.edu	37	1	39801222	39801222	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:39801222A>G	uc010oiu.1	+	1	4413	c.4282A>G	c.(4282-4284)ACA>GCA	p.T1428A	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	2993					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGTATCAGAACATGCAAACC	0.428000												
C1orf175	374977	broad.mit.edu	37	1	55145625	55145625	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:55145625G>A	uc010ooe.1	+	13	2612	c.2288G>A	c.(2287-2289)CGC>CAC	p.R763H	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Missense_Mutation_p.R331H|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Missense_Mutation_p.R281H|C1orf175_uc010oof.1_Intron|C1orf175_uc001cxr.1_Intron|C1orf175_uc010oog.1_Missense_Mutation_p.R763H|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_5'Flank	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	763						integral to membrane	binding				0						CCTCGGGCCCGCCAGGTGGCC	0.637000												
LRRC7	57554	broad.mit.edu	37	1	70587464	70587464	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:70587464C>T	uc001dep.2	+	25	4538	c.4508C>T	c.(4507-4509)GCA>GTA	p.A1503V	LRRC7_uc009wbg.2_Missense_Mutation_p.A787V|LRRC7_uc001deq.2_Missense_Mutation_p.A697V	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1503	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						TATTTACAGGCAAATGGACAC	0.348000												
COL11A1	1301	broad.mit.edu	37	1	103343634	103343634	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:103343634A>C	uc001dul.2	-	67	5680	c.5362T>G	c.(5362-5364)TTT>GTT	p.F1788V	COL11A1_uc001duk.2_Missense_Mutation_p.F984V|COL11A1_uc001dum.2_Missense_Mutation_p.F1800V|COL11A1_uc001dun.2_Missense_Mutation_p.F1749V|COL11A1_uc009weh.2_Missense_Mutation_p.F1672V	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1788	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGATCACCAAAGTCATTGATC	0.328000												
KCNA3	3738	broad.mit.edu	37	1	111217049	111217049	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:111217049G>A	uc001dzv.1	-	1	607	c.383C>T	c.(382-384)ACG>ATG	p.T128M		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	128						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCAGCAGCGTCTCGGGGAA	0.662000												
ITGA10	8515	broad.mit.edu	37	1	145537443	145537443	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:145537443G>A	uc001eoa.2	+	20	2529	c.2453G>A	c.(2452-2454)CGA>CAA	p.R818Q	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R687Q|ITGA10_uc009wiw.2_Missense_Mutation_p.R675Q|ITGA10_uc010oyw.1_Missense_Mutation_p.R763Q	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	818	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTTGTGGTTCGAGGTGGCCGG	0.488000												
CD1A	909	broad.mit.edu	37	1	158227231	158227231	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:158227231T>G	uc001frt.2	+	5	1437	c.904T>G	c.(904-906)TTC>GTC	p.F302V		NM_001763	NP_001754	P06126	CD1A_HUMAN	CD1A antigen precursor	302	Helical; (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				pancreas(2)|skin(1)	3	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTCCGTGGGCTTCATCATCTT	0.438000												
OR10Z1	128368	broad.mit.edu	37	1	158576540	158576540	+	Silent	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:158576540T>C	uc010pio.1	+	1	312	c.312T>C	c.(310-312)TCT>TCC	p.S104S		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	104	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					TGTTCTTTTCTGCCTCATGGG	0.552000												
OR6K2	81448	broad.mit.edu	37	1	158670422	158670422	+	Silent	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:158670422G>T	uc001fsu.1	-	1	21	c.21C>A	c.(19-21)ACC>ACA	p.T7T		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K,	7	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	all_hematologic(112;0.0378)					CCTGAATGGTGGTTCGATTGG	0.433000												
DDR2	4921	broad.mit.edu	37	1	162725000	162725000	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:162725000C>T	uc001gcf.2	+	7	937	c.472C>T	c.(472-474)CCC>TCC	p.P158S	DDR2_uc001gcg.2_Missense_Mutation_p.P158S	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	discoidin domain receptor family, member 2	158	Extracellular (Potential).|F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CTTGGAGCCGCCCATTGTAGC	0.478000												
F5	2153	broad.mit.edu	37	1	169510379	169510379	+	Missense_Mutation	SNP	C	C	T	rs149048805		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:169510379C>T	uc001ggg.1	-	13	4094	c.3949G>A	c.(3949-3951)GGT>AGT	p.G1317S		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1317	B.|2-15.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGCATCTGACCGAGGGCTGGG	0.498000												
TNR	7143	broad.mit.edu	37	1	175325573	175325573	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:175325573G>A	uc001gkp.1	-	14	3081	c.3000C>T	c.(2998-3000)GAC>GAT	p.D1000D	TNR_uc009wwu.1_Silent_p.D1000D	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1000	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CACTGACTCCGTCAACAAGGA	0.463000												
KIAA1614	57710	broad.mit.edu	37	1	180886990	180886990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:180886990G>A	uc001gok.2	+	3	1068	c.1001G>A	c.(1000-1002)CGA>CAA	p.R334Q		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	hypothetical protein LOC57710	334										ovary(3)|skin(1)	4						ATCCTAGAGCGACCAGTGGGG	0.567000												
F13B	2165	broad.mit.edu	37	1	197026303	197026303	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:197026303C>A	uc001gtt.1	-	7	1055	c.1011G>T	c.(1009-1011)GAG>GAT	p.E337D		NM_001994	NP_001985	P05160	F13B_HUMAN	coagulation factor XIII B subunit precursor	337	Sushi 6.				blood coagulation	extracellular region				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						AGGGTGGTTCCTCACAGGCTA	0.398000												
FAM58B	339521	broad.mit.edu	37	1	200183190	200183190	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:200183190C>T	uc009wzi.1	+	1	535	c.499C>T	c.(499-501)CGG>TGG	p.R167W		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	family with sequence similarity 58 member B	167					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding				0	Prostate(682;0.19)					CAGCTGGCAGCGGACCCCCGT	0.627000												
CACNA1S	779	broad.mit.edu	37	1	201017715	201017715	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:201017715G>A	uc001gvv.2	-	36	4663	c.4436C>T	c.(4435-4437)ACG>ATG	p.T1479M		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	1479	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCACCTTCCGTCTTGATCTT	0.557000												
TNNI1	7135	broad.mit.edu	37	1	201382217	201382217	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:201382217C>A	uc010ppq.1	-	6	315	c.222G>T	c.(220-222)GAG>GAT	p.E74D	TNNI1_uc001gwo.1_RNA|TNNI1_uc001gwp.2_Missense_Mutation_p.E53D	NM_003281	NP_003272	P19237	TNNI1_HUMAN	troponin I, skeletal, slow	74					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0						CATCCACCACCTCCACCTTGG	0.582000												
NAV1	89796	broad.mit.edu	37	1	201786280	201786280	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:201786280C>T	uc001gwu.2	+	28	5743	c.5396C>T	c.(5395-5397)CCA>CTA	p.P1799L	NAV1_uc001gwx.2_Missense_Mutation_p.P1408L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1802					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CTTCCCTGGCCATCAGCCCAA	0.557000												
NFASC	23114	broad.mit.edu	37	1	204978710	204978710	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:204978710C>T	uc001hbj.2	+	28	3643	c.3315C>T	c.(3313-3315)ATC>ATT	p.I1105I	NFASC_uc010pra.1_Silent_p.I1039I|NFASC_uc001hbi.2_Silent_p.I1034I|NFASC_uc010prb.1_Silent_p.I1054I|NFASC_uc010prc.1_Silent_p.I605I|NFASC_uc001hbl.1_Silent_p.I181I|NFASC_uc001hbm.1_Silent_p.I128I|NFASC_uc009xbh.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	1212	Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AAGCGGACATCGCCACCCAGG	0.587000												
ANGEL2	90806	broad.mit.edu	37	1	213181648	213181648	+	Silent	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:213181648A>G	uc001hjz.2	-	3	701	c.546T>C	c.(544-546)GAT>GAC	p.D182D	ANGEL2_uc010pto.1_Silent_p.D56D|ANGEL2_uc010ptp.1_Silent_p.D56D|ANGEL2_uc001hka.2_Silent_p.D13D|ANGEL2_uc010ptq.1_RNA|ANGEL2_uc001hkb.2_Silent_p.D160D	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	LOC90806 protein	182											0				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GGTGAGAGTTATCTTCCAGTA	0.358000												
RYR2	6262	broad.mit.edu	37	1	237604732	237604732	+	Silent	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:237604732T>C	uc001hyl.1	+	13	1239	c.1119T>C	c.(1117-1119)ACT>ACC	p.T373T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	373	Cytoplasmic (By similarity).|MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATGGCTTACTTACCAGTCTG	0.363000												
PRKCQ	5588	broad.mit.edu	37	10	6557055	6557055	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:6557055C>T	uc001ijj.1	-	2	118	c.43G>A	c.(43-45)GGG>AGG	p.G15R	PRKCQ_uc009xim.1_Missense_Mutation_p.G15R|PRKCQ_uc001iji.1_Missense_Mutation_p.G48R|PRKCQ_uc009xin.1_5'UTR|PRKCQ_uc010qax.1_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	15	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6						TGGCAGGACCCGCAGTCAAAG	0.483000												
NEBL	10529	broad.mit.edu	37	10	21124467	21124467	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:21124467T>C	uc001iqi.2	-	14	1821	c.1424A>G	c.(1423-1425)AAG>AGG	p.K475R	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	475	Nebulin 13.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						TGCAGCCTTCTTGGCATGCTG	0.428000												
MYO3A	53904	broad.mit.edu	37	10	26457648	26457648	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:26457648T>G	uc001isn.2	+	28	3479	c.3119T>G	c.(3118-3120)CTT>CGT	p.L1040R	MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1040	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						CAGGTGTTCCTTAAGTATTAT	0.353000												
ARMC4	55130	broad.mit.edu	37	10	28270418	28270418	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:28270418A>C	uc009xky.2	-	7	1011	c.913T>G	c.(913-915)TTT>GTT	p.F305V	ARMC4_uc010qds.1_5'UTR|ARMC4_uc010qdt.1_5'UTR|ARMC4_uc001itz.2_Missense_Mutation_p.F305V|ARMC4_uc010qdu.1_5'UTR	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	305							binding			ovary(4)|skin(2)	6						TTTTCTGAAAATTTTGGTGAT	0.299000												
MPP7	143098	broad.mit.edu	37	10	28347474	28347474	+	Missense_Mutation	SNP	G	G	A	rs35450618		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:28347474G>A	uc001iua.1	-	17	1761	c.1357C>T	c.(1357-1359)CGG>TGG	p.R453W	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Missense_Mutation_p.R453W|MPP7_uc009xla.2_Missense_Mutation_p.R453W|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	453	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						AGGACAGACCGAACTGAGTCT	0.333000												
OR13A1	79290	broad.mit.edu	37	10	45799057	45799057	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:45799057C>T	uc001jcc.1	-	4	1123	c.814G>A	c.(814-816)GCT>ACT	p.A272T	OR13A1_uc001jcd.1_Missense_Mutation_p.A268T	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	272	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TAGAAGACAGCGGTGTAATAC	0.577000												
BICC1	80114	broad.mit.edu	37	10	60273052	60273052	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:60273052G>A	uc001jki.1	+	1	149	c.149G>A	c.(148-150)CGC>CAC	p.R50H		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	50					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						AGCGAGGAGCGCTTCCGCGTG	0.632000												
BICC1	80114	broad.mit.edu	37	10	60556253	60556253	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:60556253T>G	uc001jki.1	+	10	1333	c.1333T>G	c.(1333-1335)TTA>GTA	p.L445V	BICC1_uc001jkj.1_Missense_Mutation_p.L86V	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	445					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						CCTGGATATCTTAGCTTCAGC	0.517000												
FAM13C	220965	broad.mit.edu	37	10	61011428	61011428	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:61011428A>C	uc001jkn.2	-	14	1675	c.1541T>G	c.(1540-1542)CTT>CGT	p.L514R	FAM13C_uc001jko.2_Missense_Mutation_p.L416R|FAM13C_uc010qid.1_Missense_Mutation_p.L430R|FAM13C_uc010qie.1_Missense_Mutation_p.L431R|FAM13C_uc010qif.1_Missense_Mutation_p.L536R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	514										ovary(2)	2						ATGGTCAAGAAGTACAGGCCT	0.393000												
PLCE1	51196	broad.mit.edu	37	10	96030337	96030337	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr10:96030337G>A	uc001kjk.2	+	18	5118	c.4484G>A	c.(4483-4485)CGA>CAA	p.R1495Q	PLCE1_uc010qnx.1_Missense_Mutation_p.R1479Q|PLCE1_uc001kjm.2_Missense_Mutation_p.R1187Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	1495	PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				CCTCAGCAACGAAAAATGGCA	0.403000												
UBQLNL	143630	broad.mit.edu	37	11	5537169	5537169	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:5537169T>C	uc001maz.3	-	1	788	c.503A>G	c.(502-504)CAC>CGC	p.H168R	HBG2_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	168										large_intestine(2)|skin(1)	3		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GCACTCTGGGTGGCTCACTTC	0.507000												
APBB1	322	broad.mit.edu	37	11	6432344	6432344	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:6432344C>T	uc001mdb.1	-	2	334	c.234G>A	c.(232-234)CGG>CGA	p.R78R	APBB1_uc001mdc.1_Silent_p.R78R|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	amyloid beta A4 precursor protein-binding,	78					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)		TGGCGGCCCGCCGGAGCTGGT	0.672000												
OR10A4	283297	broad.mit.edu	37	11	6898769	6898769	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:6898769A>T	uc010rat.1	+	1	891	c.891A>T	c.(889-891)GAA>GAT	p.E297D		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGAATAAAGAAGTGAAGGCTG	0.478000												
ZNF215	7762	broad.mit.edu	37	11	6977489	6977489	+	Silent	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:6977489A>G	uc001mey.2	+	7	1869	c.1281A>G	c.(1279-1281)AAA>AAG	p.K427K	ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Silent_p.K189K|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	zinc finger protein 215	427	C2H2-type 2.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AGCATCAAAAACTTCATGCTG	0.388000												
SPON1	10418	broad.mit.edu	37	11	14282168	14282168	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:14282168G>C	uc001mle.2	+	15	2404	c.1866G>C	c.(1864-1866)GAG>GAC	p.E622D		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein	622	TSP type-1 4.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding				0				Epithelial(150;0.00898)		CATGGTCCGAGTGGAGTGACT	0.552000												
ANO5	203859	broad.mit.edu	37	11	22291880	22291880	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:22291880C>T	uc001mqi.2	+	18	2238	c.1921C>T	c.(1921-1923)CGC>TGC	p.R641C	ANO5_uc001mqj.2_Missense_Mutation_p.R640C	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	641	Extracellular (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4						TTGGTGGAGACGCCGAAAAGC	0.423000												
RAG1	5896	broad.mit.edu	37	11	36597271	36597271	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:36597271A>G	uc001mwu.3	+	2	2541	c.2417A>G	c.(2416-2418)GAG>GGG	p.E806G	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	806					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				AATGCAGCTGAGTTCTACAAG	0.483000									Familial_Hemophagocytic_Lymphohistiocytosis			
LRRC4C	57689	broad.mit.edu	37	11	40137656	40137656	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:40137656C>A	uc001mxa.1	-	2	2151	c.187G>T	c.(187-189)GTT>TTT	p.V63F	LRRC4C_uc001mxc.1_Missense_Mutation_p.V59F|LRRC4C_uc001mxd.1_Missense_Mutation_p.V59F|LRRC4C_uc001mxb.1_Missense_Mutation_p.V59F	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand precursor	63	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|skin(3)|central_nervous_system(1)	8		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTTTTCCGAACACAAATCACC	0.537000												
PHF21A	51317	broad.mit.edu	37	11	45970446	45970446	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:45970446G>A	uc001ncc.3	-	13	1900	c.1276C>T	c.(1276-1278)CGG>TGG	p.R426W	PHF21A_uc001ncb.3_Missense_Mutation_p.R427W|PHF21A_uc009ykx.2_Missense_Mutation_p.R427W|PHF21A_uc001nce.2_Missense_Mutation_p.R427W|PHF21A_uc001nca.1_Missense_Mutation_p.R162W	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	426	A.T hook.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						CCTCTCTTCCGGGTCCCAGGG	0.473000												
OR4C12	283093	broad.mit.edu	37	11	50003778	50003778	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:50003778T>G	uc010ria.1	-	1	260	c.260A>C	c.(259-261)AAG>ACG	p.K87T		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	87	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						GATGATTTTCTTCTCTTGAAA	0.438000												
OR4C15	81309	broad.mit.edu	37	11	55321970	55321970	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:55321970A>C	uc010rig.1	+	1	188	c.188A>C	c.(187-189)GAG>GCG	p.E63A		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	9	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TTTGTAACTGAGTTTGTCCTC	0.383000										HNSCC(20;0.049)		
OR5J2	282775	broad.mit.edu	37	11	55944903	55944903	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:55944903A>C	uc010rjb.1	+	1	810	c.810A>C	c.(808-810)CAA>CAC	p.Q270H		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)					TTGTGGAACAAGAGAAAGTGG	0.438000												
AHNAK	79026	broad.mit.edu	37	11	62286163	62286163	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:62286163G>A	uc001ntl.2	-	5	16026	c.15726C>T	c.(15724-15726)GGC>GGT	p.G5242G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5242					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				CACCTGGGATGCCGATCTTGG	0.542000												
AHNAK	79026	broad.mit.edu	37	11	62294047	62294047	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:62294047G>A	uc001ntl.2	-	5	8142	c.7842C>T	c.(7840-7842)GAC>GAT	p.D2614D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2614					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GCCCCTTGATGTCAACTTCGG	0.517000												
MAP6	4135	broad.mit.edu	37	11	75298497	75298497	+	Silent	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:75298497T>C	uc001owu.2	-	4	2114	c.2049A>G	c.(2047-2049)CAA>CAG	p.Q683Q		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6 isoform 1	683	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding				0	Ovarian(111;0.11)					CTACAACATCTTGATCCTTGA	0.488000												
CCDC83	220047	broad.mit.edu	37	11	85630404	85630404	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:85630404T>G	uc001pbh.1	+	11	1605	c.1093T>G	c.(1093-1095)TTG>GTG	p.L365V	CCDC83_uc001pbg.1_Missense_Mutation_p.L396V|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.L265V	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	365										skin(1)	1		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TTATGTAAACTTGGGCCCCCT	0.403000												
MMP3	4314	broad.mit.edu	37	11	102713534	102713534	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:102713534C>T	uc001phj.1	-	2	284	c.219G>A	c.(217-219)TTG>TTA	p.L73L		NM_002422	NP_002413	P08254	MMP3_HUMAN	matrix metalloproteinase 3 preproprotein	73					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			lung(1)|kidney(1)	2		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCGTCACCTCCAATCCAAGGA	0.483000												
PDGFD	80310	broad.mit.edu	37	11	103780501	103780501	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:103780501T>C	uc001phq.2	-	7	1406	c.1034A>G	c.(1033-1035)AAG>AGG	p.K345R	PDGFD_uc001php.2_Missense_Mutation_p.K339R	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D isoform 1	345					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			upper_aerodigestive_tract(1)|large_intestine(1)	2		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		AGCCATGGTCTTAGCTCTACC	0.463000												
ALKBH8	91801	broad.mit.edu	37	11	107423922	107423922	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:107423922T>A	uc010rvr.1	-	5	582	c.507A>T	c.(505-507)AAA>AAT	p.K169N	ALKBH8_uc001pjk.2_5'Flank|ALKBH8_uc010rvq.1_Missense_Mutation_p.K32N|ALKBH8_uc009yxp.2_Missense_Mutation_p.K169N|ALKBH8_uc001pjl.2_RNA	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8	169					response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GTTTTAAGGATTTTTGAGCTG	0.323000												
MLL	4297	broad.mit.edu	37	11	118347547	118347547	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:118347547T>C	uc001pta.2	+	4	3207	c.3184T>C	c.(3184-3186)TCT>CCT	p.S1062P	MLL_uc001ptb.2_Missense_Mutation_p.S1062P|MLL_uc001ptd.1_Missense_Mutation_p.S54P	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1062					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ATCAGAGACCTCTGTGCGAGG	0.463000			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
SLCO1B3	28234	broad.mit.edu	37	12	21033890	21033890	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:21033890G>T	uc001rek.2	+	11	1559	c.1433G>T	c.(1432-1434)GGA>GTA	p.G478V	SLCO1B3_uc001rel.2_Missense_Mutation_p.G478V|SLCO1B3_uc010sil.1_Missense_Mutation_p.G478V|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.G303V	NM_019844	NP_062818	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family,	478	Extracellular (Potential).|Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					GGGAACAATGGAATAACTTAC	0.388000												
LRRK2	120892	broad.mit.edu	37	12	40716964	40716964	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:40716964G>T	uc001rmg.3	+	38	5633	c.5512G>T	c.(5512-5514)GAT>TAT	p.D1838Y	LRRK2_uc009zjw.2_Missense_Mutation_p.D676Y|LRRK2_uc001rmi.2_Missense_Mutation_p.D671Y	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1838					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTCTCAGGAGATCTCTTAGT	0.308000												
KRT73	319101	broad.mit.edu	37	12	53010119	53010119	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:53010119C>T	uc001sas.2	-	2	528	c.493G>A	c.(493-495)GAG>AAG	p.E165K		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	keratin 73	165	Coil 1A.|Rod.					keratin filament	structural molecule activity			large_intestine(2)|ovary(2)|skin(2)	6				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTAGCAGCTCCCACTTGGTC	0.557000												
KRT2	3849	broad.mit.edu	37	12	53043714	53043714	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:53043714A>C	uc001sat.2	-	3	878	c.845T>G	c.(844-846)TTT>TGT	p.F282C		NM_000423	NP_000414	P35908	K22E_HUMAN	keratin 2	282	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.19)		AAGCGTCACAAAATCATTCTC	0.443000												
CS	1431	broad.mit.edu	37	12	56679728	56679728	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:56679728G>A	uc001sks.1	-	3	363	c.173C>T	c.(172-174)ACG>ATG	p.T58M	CS_uc010sql.1_Missense_Mutation_p.T45M|CS_uc001skr.1_Translation_Start_Site|CS_uc001skt.1_Missense_Mutation_p.T13M|CS_uc010sqm.1_Translation_Start_Site	NM_004077	NP_004068	O75390	CISY_HUMAN	citrate synthase precursor	58					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity				0		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GCCCACCACCGTCTTGCCATG	0.438000												
TIMELESS	8914	broad.mit.edu	37	12	56826160	56826160	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:56826160C>T	uc001slf.2	-	7	848	c.680G>A	c.(679-681)CGT>CAT	p.R227H	TIMELESS_uc001slg.2_Missense_Mutation_p.R226H	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	227					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CACCTGGTCACGAAACATAAG	0.537000												
PPFIA2	8499	broad.mit.edu	37	12	81657026	81657026	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:81657026T>G	uc001szo.1	-	31	3860	c.3699A>C	c.(3697-3699)AGA>AGC	p.R1233S	PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	1132										ovary(3)|lung(2)|pancreas(1)	6						TTGTCATTTTTCTTGACTGCC	0.418000												
MGAT4C	25834	broad.mit.edu	37	12	86373333	86373333	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:86373333T>C	uc001tai.3	-	8	2421	c.1171A>G	c.(1171-1173)AAA>GAA	p.K391E	MGAT4C_uc001tal.3_Missense_Mutation_p.K391E|MGAT4C_uc001taj.3_Missense_Mutation_p.K391E|MGAT4C_uc001tak.3_Missense_Mutation_p.K391E|MGAT4C_uc010sum.1_Missense_Mutation_p.K415E|MGAT4C_uc001tah.3_Missense_Mutation_p.K391E	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	alpha-1,3-mannosyl-glycoprotein	391	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(3)	3						ACtttaattttttttattata	0.358000												
GAS2L3	283431	broad.mit.edu	37	12	100994193	100994193	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:100994193C>T	uc001thu.2	+	4	278	c.52C>T	c.(52-54)CGG>TGG	p.R18W	GAS2L3_uc009zty.2_Missense_Mutation_p.R18W|GAS2L3_uc001thv.2_5'UTR	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	18					cell cycle arrest					skin(1)	1						TCTAAGTCCTCGGAGTCCTCT	0.423000												
ACACB	32	broad.mit.edu	37	12	109637317	109637317	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:109637317G>A	uc001tob.2	+	18	2857	c.2738G>A	c.(2737-2739)GGG>GAG	p.G913E	ACACB_uc001toc.2_Missense_Mutation_p.G913E	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	913	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GTGGAGGATGGGGGCCACGTT	0.572000												
CLIP1	6249	broad.mit.edu	37	12	122826228	122826228	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr12:122826228T>A	uc001ucg.1	-	10	1629	c.1523A>T	c.(1522-1524)GAA>GTA	p.E508V	CLIP1_uc001uch.1_Missense_Mutation_p.E497V|CLIP1_uc001uci.1_Missense_Mutation_p.E462V|CLIP1_uc001ucj.1_Missense_Mutation_p.E198V|CLIP1_uc009zxo.1_Missense_Mutation_p.E64V	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	508	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACGTGACTTTTCTGAAACTGT	0.348000												
SACS	26278	broad.mit.edu	37	13	23907444	23907444	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:23907444A>G	uc001uon.2	-	10	11160	c.10571T>C	c.(10570-10572)TTA>TCA	p.L3524S	SACS_uc001uoo.2_Missense_Mutation_p.L3377S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	sacsin	3524					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GATTATCAATAAACTTTCCAG	0.318000												
C13orf18	80183	broad.mit.edu	37	13	46946450	46946450	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:46946450A>T	uc010acl.2	-	3	766	c.161T>A	c.(160-162)ATT>AAT	p.I54N	C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.I54N|C13orf18_uc001vbh.3_Missense_Mutation_p.I54N|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.I54N|C13orf18_uc010tga.1_Intron	NM_025113	NP_079389	Q9H714	CM018_HUMAN	hypothetical protein LOC80183	54											0		Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;2.19e-05)		CTGGGGGTTAATCCAGACAGC	0.537000												
RBM26	64062	broad.mit.edu	37	13	79940921	79940921	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:79940921T>C	uc001vkz.2	-	7	996	c.982A>G	c.(982-984)ATG>GTG	p.M328V	RBM26_uc001vky.2_Missense_Mutation_p.M328V|RBM26_uc001vla.2_Missense_Mutation_p.M328V|RBM26_uc001vkx.2_Missense_Mutation_p.M40V|RBM26_uc001vlb.1_RNA	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	328	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AAAGGCAGCATACCAGGAAGA	0.488000												
SLITRK1	114798	broad.mit.edu	37	13	84453566	84453566	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:84453566A>G	uc001vlk.2	-	1	2963	c.2077T>C	c.(2077-2079)TCG>CCG	p.S693P		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	693	Cytoplasmic (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCTGAGAGCGAGTGAGAGCCA	0.587000												
SLITRK6	84189	broad.mit.edu	37	13	86368709	86368709	+	Silent	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:86368709A>G	uc001vll.1	-	2	2394	c.1935T>C	c.(1933-1935)GAT>GAC	p.D645D	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	645	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCATTTGCTCATCTACTTGTT	0.428000												
FGF14	2259	broad.mit.edu	37	13	102521141	102521141	+	Silent	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr13:102521141A>C	uc001vpe.2	-	3	342	c.342T>G	c.(340-342)GTT>GTG	p.V114V	FGF14_uc001vpf.2_Silent_p.V119V	NM_004115	NP_004106	Q92915	FGF14_HUMAN	fibroblast growth factor 14 isoform 1A	114					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			ovary(2)|lung(1)|large_intestine(1)	4	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTGGATGGCAACAACACGTA	0.448000												
OR4M1	441670	broad.mit.edu	37	14	20248972	20248972	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:20248972T>C	uc010tku.1	+	1	491	c.491T>C	c.(490-492)GTT>GCT	p.V164A		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTCTCATTGTTCGACTTCCT	0.493000												
DHRS4L1	728635	broad.mit.edu	37	14	24507075	24507075	+	Silent	SNP	G	G	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:24507075G>C	uc010alc.2	+	2	252	c.252G>C	c.(250-252)ACG>ACC	p.T84T	DHRS4L1_uc010tnu.1_Intron	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN	dehydrogenase/reductase (SDR family) member 4	84							binding|oxidoreductase activity				0						TGAGCATGACGGGCACTGTGT	0.647000												
ZBTB25	7597	broad.mit.edu	37	14	64953979	64953979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:64953979G>A	uc001xhf.2	-	3	1153	c.970C>T	c.(970-972)CAA>TAA	p.Q324*	ZBTB25_uc001xhc.2_Intron|ZBTB25_uc001xhg.2_Nonsense_Mutation_p.Q324*	NM_006977	NP_008908	P24278	ZBT25_HUMAN	zinc finger protein 46	324						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		AAAGATACTTGACTGATCTGC	0.443000												
FNTB	2342	broad.mit.edu	37	14	65521395	65521395	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:65521395C>T	uc001xia.2	+	11	1335	c.1170C>T	c.(1168-1170)CCC>CCT	p.P390P	FNTB_uc010tsl.1_Silent_p.P424P|FNTB_uc010tsm.1_Silent_p.P344P|MAX_uc001xic.1_Intron|FNTB_uc001xid.2_Silent_p.P146P|FNTB_uc010tso.1_Silent_p.P305P	NM_002028	NP_002019	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	390					protein farnesylation	microtubule associated complex	protein binding|protein farnesyltransferase activity			ovary(1)	1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGGGTGTGCCCGAAAACGCTC	0.587000												
ADAM21	8747	broad.mit.edu	37	14	70926219	70926219	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:70926219G>A	uc001xmd.2	+	1	2003	c.2003G>A	c.(2002-2004)GGG>GAG	p.G668E		NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21 preproprotein	668	Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			pancreas(1)|skin(1)	2				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGAGGCTATGGGGGCAGTATT	0.493000												
TMEM90A	646658	broad.mit.edu	37	14	74876225	74876225	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:74876225C>G	uc001xpx.2	-	2	471	c.223G>C	c.(223-225)GGG>CGG	p.G75R		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	75					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		TTGTCTCTCCCCAGGAGGCAG	0.697000												
KIAA1409	57578	broad.mit.edu	37	14	94109905	94109905	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:94109905G>A	uc001ybv.1	+	33	5641	c.5558G>A	c.(5557-5559)TGC>TAC	p.C1853Y	KIAA1409_uc001ybs.1_Missense_Mutation_p.C1831Y	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	2008						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CTTTGCAGATGCCATGACTGT	0.443000												
EVL	51466	broad.mit.edu	37	14	100604082	100604082	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr14:100604082C>T	uc001ygt.2	+	11	1270	c.1031C>T	c.(1030-1032)CCG>CTG	p.P344L	EVL_uc001ygv.2_Missense_Mutation_p.P350L|EVL_uc001ygu.2_Missense_Mutation_p.P346L|EVL_uc010avu.2_Missense_Mutation_p.P203L	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Enah/Vasp-like	344	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			large_intestine(2)|ovary(1)	3		Melanoma(154;0.152)				CGTAGAACCCCGTCTGTGGCA	0.622000												
MKRN3	7681	broad.mit.edu	37	15	23811300	23811300	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:23811300G>A	uc001ywh.3	+	1	847	c.371G>A	c.(370-372)CGG>CAG	p.R124Q	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.R124Q	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	124						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTTTCTGGTCGGAAGATGGCC	0.602000												
ATP10A	57194	broad.mit.edu	37	15	25958993	25958993	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:25958993C>T	uc010ayu.2	-	10	2278	c.2172G>A	c.(2170-2172)GTG>GTA	p.V724V		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	724	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGGCAGCTCCACTGACACTT	0.632000												
RYR3	6263	broad.mit.edu	37	15	33916068	33916068	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:33916068T>G	uc001zhi.2	+	20	2488	c.2418T>G	c.(2416-2418)TAT>TAG	p.Y806*	RYR3_uc010bar.2_Nonsense_Mutation_p.Y806*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	806	Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCTGGCTATGCCCCTTGCT	0.428000												
RYR3	6263	broad.mit.edu	37	15	33993213	33993213	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:33993213G>T	uc001zhi.2	+	42	6485	c.6415G>T	c.(6415-6417)GTG>TTG	p.V2139L	RYR3_uc010bar.2_Missense_Mutation_p.V2139L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2139	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCGCTGGATGTGGCAGCTTC	0.567000											OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AQR	9716	broad.mit.edu	37	15	35155120	35155120	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:35155120C>A	uc001ziv.2	-	33	4158	c.3977G>T	c.(3976-3978)CGC>CTC	p.R1326L		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1326						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ATGAAGGGGGCGAGCTGTGAG	0.428000												
DYX1C1	161582	broad.mit.edu	37	15	55724773	55724773	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:55724773T>C	uc002adc.2	-	9	1443	c.1075A>G	c.(1075-1077)ACA>GCA	p.T359A	CCPG1_uc002acy.2_5'UTR|DYX1C1_uc010ugh.1_Intron|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Intron|DYX1C1_uc002add.2_Intron	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1 isoform a	359					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			skin(1)	1				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GCATTGTCTGTAACAGGTGGC	0.303000												
ADAMTSL3	57188	broad.mit.edu	37	15	84611673	84611673	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr15:84611673G>A	uc002bjz.3	+	19	2553	c.2329G>A	c.(2329-2331)GGG>AGG	p.G777R	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G777R|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G777R	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	777	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACTTGTGGCGGGGGAACTCA	0.537000												
RUNDC2A	84127	broad.mit.edu	37	16	12142361	12142361	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:12142361C>T	uc002dbw.1	+	7	694	c.632C>T	c.(631-633)ACG>ATG	p.T211M		NM_032167	NP_115543	Q9HA26	RUN2A_HUMAN	RUN domain containing 2A	211										ovary(1)	1						AAGGAGTCCACGCAAGGAGTG	0.547000			T	CIITA	PMBL|Hodgkin Lymphona|							
GTF3C1	2975	broad.mit.edu	37	16	27506768	27506768	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:27506768C>T	uc002dov.1	-	15	2436	c.2396G>A	c.(2395-2397)CGC>CAC	p.R799H	GTF3C1_uc002dou.2_Missense_Mutation_p.R799H	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	799						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CACCCGCAGGCGAGGCATTTT	0.522000												
ZNF423	23090	broad.mit.edu	37	16	49672521	49672521	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:49672521C>T	uc002efs.2	-	5	840	c.542G>A	c.(541-543)CGC>CAC	p.R181H	ZNF423_uc010vgn.1_Missense_Mutation_p.R64H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	181	C2H2-type 3.				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				GTGCCGGTCACGGCTCCTCTT	0.582000												
IRX6	79190	broad.mit.edu	37	16	55361588	55361588	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:55361588C>A	uc002ehy.2	+	4	1037	c.504C>A	c.(502-504)CAC>CAA	p.H168Q	IRX6_uc002ehx.2_Missense_Mutation_p.H168Q|IRX6_uc010ccb.1_RNA	NM_024335	NP_077311	P78412	IRX6_HUMAN	iroquois homeobox protein 6	168	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(1)	6						TCAACGAGCACCGCAAAAACC	0.607000												
KIAA0174	9798	broad.mit.edu	37	16	71955270	71955270	+	Missense_Mutation	SNP	G	G	A	rs139513735	byFrequency	TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:71955270G>A	uc002fbj.1	+	8	788	c.505G>A	c.(505-507)GCC>ACC	p.A169T	KIAA0174_uc010cgh.1_Missense_Mutation_p.A169T|KIAA0174_uc002fbk.1_Missense_Mutation_p.A156T|KIAA0174_uc002fbm.1_Missense_Mutation_p.A156T|KIAA0174_uc002fbl.1_Missense_Mutation_p.A156T|KIAA0174_uc002fbn.1_Missense_Mutation_p.A8T|KIAA0174_uc010cgi.1_Intron|KIAA0174_uc010cgj.1_Missense_Mutation_p.A88T|KIAA0174_uc010vml.1_5'Flank|KIAA0174_uc010vmk.1_Missense_Mutation_p.A8T			P53990	IST1_HUMAN	SubName: Full=cDNA FLJ32696 fis, clone TESTI2000358; SubName: Full=cDNA FLJ77725;	156	Interaction with VPS37B.|Interaction with CHMP1A and CHMP1B.				cell cycle|cell division	cytoplasmic membrane-bounded vesicle|ER-Golgi intermediate compartment	protein binding			ovary(1)	1						GAGTGTGGAAGCCCCACCCAA	0.388000												
FOXF1	2294	broad.mit.edu	37	16	86545019	86545019	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr16:86545019G>A	uc002fjl.2	+	1	887	c.844G>A	c.(844-846)GCC>ACC	p.A282T	uc002fjk.1_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	forkhead box F1	282					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding				0						CAACAGCGGCGCCTCTTATAT	0.726000												
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr17:7579311C>T	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.2_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site_p.T86_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a						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.?(11)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532000		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)		
SLC5A10	125206	broad.mit.edu	37	17	18862516	18862516	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr17:18862516G>A	uc002guu.1	+	3	293	c.252G>A	c.(250-252)GCG>GCA	p.A84A	SLC5A10_uc002gur.1_Silent_p.A28A|SLC5A10_uc002gut.1_Silent_p.A84A|SLC5A10_uc002guv.1_Silent_p.A84A|SLC5A10_uc010vyl.1_Silent_p.A84A	NM_001042450	NP_001035915	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/glucose	84	Helical; (Potential).				sodium ion transport|transmembrane transport	integral to membrane	transporter activity			ovary(1)	1						GCTCAGGCGCGGCAGGAGGTC	0.652000												
C17orf98	388381	broad.mit.edu	37	17	36997469	36997469	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr17:36997469G>A	uc002hqv.2	-	1	174	c.174C>T	c.(172-174)CAC>CAT	p.H58H		NM_001080465	NP_001073934	A8MV24	CQ098_HUMAN	hypothetical protein LOC388381	58											0						GCGGAACCACGTGACTCTGGA	0.592000												
CCR7	1236	broad.mit.edu	37	17	38711389	38711389	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr17:38711389G>A	uc002huw.2	-	3	805	c.742C>T	c.(742-744)CGC>TGC	p.R248C		NM_001838	NP_001829	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7 precursor	248	Cytoplasmic (Potential).				cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)	1		Breast(137;0.000496)				AGCAGGGTGCGGATGATGACA	0.557000												
MYCBPAP	84073	broad.mit.edu	37	17	48594780	48594780	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr17:48594780C>A	uc010wmr.1	+	3	622	c.460C>A	c.(460-462)CCT>ACT	p.P154T	MYCBPAP_uc002iqx.2_Missense_Mutation_p.P154T|MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	117					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TCCTGCGAATCCTGATGAAGC	0.507000												
CDH2	1000	broad.mit.edu	37	18	25572801	25572801	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr18:25572801A>T	uc002kwg.2	-	9	1621	c.1162T>A	c.(1162-1164)TAT>AAT	p.Y388N	CDH2_uc010xbn.1_Missense_Mutation_p.Y357N	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	388	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						ACTTCACCATAAAACTGCGAG	0.483000												
TCEB3B	51224	broad.mit.edu	37	18	44559975	44559975	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr18:44559975A>G	uc002lcr.1	-	1	2014	c.1661T>C	c.(1660-1662)GTT>GCT	p.V554A	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	554	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						AGGTTCAAGAACCCAGTAGGG	0.577000												
TCEB3B	51224	broad.mit.edu	37	18	44559978	44559978	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr18:44559978C>G	uc002lcr.1	-	1	2011	c.1658G>C	c.(1657-1659)TGG>TCG	p.W553S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	553	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TTCAAGAACCCAGTAGGGGAC	0.587000												
CDH19	28513	broad.mit.edu	37	18	64172366	64172366	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr18:64172366G>A	uc002lkc.1	-	12	2140	c.2002C>T	c.(2002-2004)CGC>TGC	p.R668C	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_3'UTR	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	668	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				CGAGTCTTGCGTTCCCGCATT	0.468000												
DSEL	92126	broad.mit.edu	37	18	65181696	65181696	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr18:65181696G>T	uc002lke.1	-	2	1404	c.180C>A	c.(178-180)TTC>TTA	p.F60L		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	50						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				GGTTGGGTCTGAAATCTTGCA	0.373000												
ABCA7	10347	broad.mit.edu	37	19	1056917	1056917	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:1056917C>T	uc002lqw.3	+	34	4829	c.4598C>T	c.(4597-4599)TCG>TTG	p.S1533L	ABCA7_uc002lqy.2_Missense_Mutation_p.S4L|ABCA7_uc010dsc.2_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A, member 7	1533	Extracellular (By similarity).				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			pancreas(7)|ovary(1)|central_nervous_system(1)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGCCTCCTCGGTGGACGTC	0.567000												
ACTL9	284382	broad.mit.edu	37	19	8808001	8808001	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:8808001C>T	uc002mkl.2	-	1	1172	c.1051G>A	c.(1051-1053)GAG>AAG	p.E351K		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	actin-like 9	351						cytoplasm|cytoskeleton				large_intestine(2)|pancreas(1)	3						AAGCGACCCTCGAAGCCGGTG	0.647000												
MUC16	94025	broad.mit.edu	37	19	9071824	9071824	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:9071824T>C	uc002mkp.2	-	3	15826	c.15622A>G	c.(15622-15624)AGT>GGT	p.S5208G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5210	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						AGTAGAAAACTTGTGTCCGTG	0.458000												
ZNF799	90576	broad.mit.edu	37	19	12502756	12502756	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:12502756G>A	uc010dyt.2	-	4	606	c.456C>T	c.(454-456)TAC>TAT	p.Y152Y	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	152	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						GTGAGTTGTGGTAACTGAAGG	0.413000												
ZNF253	56242	broad.mit.edu	37	19	20002426	20002426	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:20002426G>C	uc002noj.2	+	4	462	c.370G>C	c.(370-372)GTG>CTG	p.V124L	ZNF253_uc002nok.2_Missense_Mutation_p.V48L|ZNF253_uc002nol.2_RNA	NM_021047	NP_066385	O75346	ZN253_HUMAN	zinc finger protein 253	124					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TGAGCATAAGGTGCACAAAGG	0.338000												
FAM98C	147965	broad.mit.edu	37	19	38899405	38899405	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:38899405C>T	uc002oin.1	+	8	952	c.933C>T	c.(931-933)AAC>AAT	p.N311N	FAM98C_uc002oio.1_Silent_p.N229N|FAM98C_uc010xtz.1_Missense_Mutation_p.R178C	NM_174905	NP_777565	Q17RN3	FA98C_HUMAN	hypothetical protein LOC147965	311										skin(1)	1	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTATGGGCAACGTTCCAGACC	0.572000												
PSG6	5675	broad.mit.edu	37	19	43420503	43420503	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:43420503C>G	uc002ovj.1	-	2	253	c.201G>C	c.(199-201)TGG>TGC	p.W67C	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.W67C|PSG6_uc002ovg.1_Missense_Mutation_p.W67C	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	67	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)				GCCCTTTGTACCAGATGTAGC	0.438000												
BCAM	4059	broad.mit.edu	37	19	45322967	45322967	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:45322967C>T	uc002ozu.2	+	13	1791	c.1747C>T	c.(1747-1749)CGG>TGG	p.R583W	BCAM_uc002ozt.1_Missense_Mutation_p.R583W	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	583	Cytoplasmic (Potential).				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			skin(1)	1	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCGCCAGCGGCGGGAGAAGGG	0.507000												
RASIP1	54922	broad.mit.edu	37	19	49224062	49224062	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:49224062G>C	uc002pki.2	-	12	3082	c.2885C>G	c.(2884-2886)TCT>TGT	p.S962C	MAMSTR_uc002pkg.2_5'Flank|RASIP1_uc002pkh.2_Missense_Mutation_p.S223C	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Ras-interacting protein 1	962					signal transduction	Golgi stack|perinuclear region of cytoplasm				pancreas(1)	1		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TTCTCAAGGAGACGTGGCCAC	0.602000												
ZNF470	388566	broad.mit.edu	37	19	57088195	57088195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:57088195C>A	uc002qnl.3	+	6	1074	c.398C>A	c.(397-399)TCA>TAA	p.S133*	ZNF470_uc010etn.2_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTTGAATGTTCAACATTAGGG	0.363000												
ZNF772	400720	broad.mit.edu	37	19	57988660	57988660	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:57988660C>T	uc002qot.2	-	1	279	c.18G>A	c.(16-18)CCG>CCA	p.P6P	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.P6P|ZNF772_uc010ygz.1_5'UTR|ZNF772_uc010yha.1_Silent_p.P6P|ZNF772_uc002qou.2_5'UTR	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		CCGGGCCCATCGGCTCAGCCG	0.637000											OREG0025695	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF586	54807	broad.mit.edu	37	19	58290568	58290568	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr19:58290568C>T	uc002qqd.2	+	3	799	c.613C>T	c.(613-615)CGT>TGT	p.R205C	ZNF587_uc002qqb.2_Intron|ZNF586_uc002qqe.2_Silent_p.S162S|ZNF586_uc010euh.2_Missense_Mutation_p.R162C|ZNF586_uc002qqf.1_Intron	NM_017652	NP_060122	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGAGCAAAGCGTTATGAATG	0.428000												
KCNS3	3790	broad.mit.edu	37	2	18113498	18113498	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:18113498A>G	uc002rcv.2	+	3	1674	c.1223A>G	c.(1222-1224)AAG>AGG	p.K408R	KCNS3_uc002rcw.2_Missense_Mutation_p.K408R	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	408	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCTTCAACAAGTTTTCCAAG	0.502000												
APOB	338	broad.mit.edu	37	2	21226058	21226058	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:21226058C>T	uc002red.2	-	29	12364	c.12236G>A	c.(12235-12237)GGG>GAG	p.G4079E		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	4079					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATAAAGGACCCCTGTGGCCTT	0.473000												
C2orf71	388939	broad.mit.edu	37	2	29297042	29297042	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:29297042C>T	uc002rmt.1	-	1	86	c.86G>A	c.(85-87)CGG>CAG	p.R29Q		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	hypothetical protein LOC388939	29					response to stimulus|visual perception	photoreceptor outer segment				skin(1)	1						ACATCCTGGCCGAATTGCTTT	0.512000												
PIGF	5281	broad.mit.edu	37	2	46842221	46842221	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:46842221G>A	uc002rvd.2	-	2	247	c.83C>T	c.(82-84)TCA>TTA	p.S28L	PIGF_uc002rvc.2_Missense_Mutation_p.S28L|CRIPT_uc002rve.2_5'Flank	NM_002643	NP_002634	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	28	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAAGAAGAGTGATGGAATGAA	0.353000												
PROKR1	10887	broad.mit.edu	37	2	68882618	68882618	+	Silent	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:68882618T>G	uc010yqj.1	+	2	1092	c.1092T>G	c.(1090-1092)TCT>TCG	p.S364S	PROKR1_uc002ses.2_RNA	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	G protein-coupled receptor 73	364	Cytoplasmic (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			ovary(1)	1						GGAAGGCTTCTTACAATGGCG	0.502000												
ANTXR1	84168	broad.mit.edu	37	2	69297834	69297834	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:69297834A>C	uc002sfg.2	+	4	708	c.352A>C	c.(352-354)ACT>CCT	p.T118P	ANTXR1_uc002sfe.2_Missense_Mutation_p.T118P|ANTXR1_uc002sff.2_Missense_Mutation_p.T118P|ANTXR1_uc002sfd.2_Missense_Mutation_p.T118P	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1 isoform 1 precursor	118	Extracellular (Potential).|VWFA.	Divalent metal cation (By similarity).			actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			ovary(2)|skin(2)	4						AGGAGGAGACACTTACATGCA	0.353000									Familial_Infantile_Hemangioma			
ST6GAL2	84620	broad.mit.edu	37	2	107446605	107446605	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:107446605T>G	uc002tdq.2	-	5	1354	c.1235A>C	c.(1234-1236)AAA>ACA	p.K412T	ST6GAL2_uc002tdr.2_Missense_Mutation_p.K412T|ST6GAL2_uc002tds.3_Missense_Mutation_p.K412T	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	412	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11						CCATATAAATTTAGGATGAAG	0.378000												
MARCO	8685	broad.mit.edu	37	2	119699881	119699881	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:119699881G>A	uc002tln.1	+	1	137	c.5G>A	c.(4-6)AGA>AAA	p.R2K	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	2	Cytoplasmic (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			ovary(3)|skin(2)|central_nervous_system(1)	6						TTGGCAATGAGAAATAAGAAA	0.453000												
NCKAP5	344148	broad.mit.edu	37	2	133542677	133542677	+	Silent	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:133542677G>T	uc002ttp.2	-	14	2081	c.1707C>A	c.(1705-1707)GGC>GGA	p.G569G	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	569							protein binding				0						TGCGGCCATGGCCTTGGCCCT	0.547000												
LRP1B	53353	broad.mit.edu	37	2	141081582	141081582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:141081582C>A	uc002tvj.1	-	81	13366	c.12394G>T	c.(12394-12396)GGA>TGA	p.G4132*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4132	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTTAGGTCCTGCTCCATAT	0.299000										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141806706	141806706	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:141806706A>C	uc002tvj.1	-	11	2610	c.1638T>G	c.(1636-1638)GAT>GAG	p.D546E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	546	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATGTATTCATCAGCTATCT	0.418000										TSP Lung(27;0.18)		
TBR1	10716	broad.mit.edu	37	2	162275557	162275557	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:162275557C>T	uc002ubw.1	+	4	1426	c.1124C>T	c.(1123-1125)ACG>ATG	p.T375M	TBR1_uc010foy.2_Missense_Mutation_p.T88M	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	375	T-box.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TACCAGAACACGGATGTAAGG	0.627000												
TTN	7273	broad.mit.edu	37	2	179427323	179427323	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:179427323A>G	uc010zfg.1	-	275	76056	c.75832T>C	c.(75832-75834)TAT>CAT	p.Y25278H	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y18973H|TTN_uc010zfi.1_Missense_Mutation_p.Y18906H|TTN_uc010zfj.1_Missense_Mutation_p.Y18781H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	26205							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)			CCAATCCCATATTCATTGGAA	0.408000												
CALCRL	10203	broad.mit.edu	37	2	188211006	188211006	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:188211006C>A	uc002upv.3	-	15	1839	c.1291G>T	c.(1291-1293)GGT>TGT	p.G431C	CALCRL_uc010frt.2_Missense_Mutation_p.G431C	NM_005795	NP_005786	Q16602	CALRL_HUMAN	calcitonin receptor-like precursor	431	Cytoplasmic (Potential).					integral to plasma membrane				lung(3)|ovary(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGACTATAACCTGGACCATCA	0.338000												
MAP2	4133	broad.mit.edu	37	2	210561456	210561456	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:210561456A>C	uc002vde.1	+	8	4619	c.4371A>C	c.(4369-4371)GAA>GAC	p.E1457D	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.E1453D	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1457	Calmodulin-binding (Potential).				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCAGAGATGAAGTGAGAAGGA	0.343000												
FAM124B	79843	broad.mit.edu	37	2	225266233	225266233	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:225266233C>T	uc002vnx.2	-	1	479	c.253G>A	c.(253-255)GTC>ATC	p.V85I	FAM124B_uc002vnw.2_Missense_Mutation_p.V85I	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	hypothetical protein LOC79843 isoform a	85							protein binding			ovary(2)	2		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GAGTCCAGGACGCGAAATAGC	0.552000												
PER2	8864	broad.mit.edu	37	2	239170935	239170935	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:239170935C>A	uc002vyc.2	-	11	1441	c.1204G>T	c.(1204-1206)GCC>TCC	p.A402S	PER2_uc010znv.1_Missense_Mutation_p.A402S|PER2_uc010znw.1_Missense_Mutation_p.A402S|PER2_uc010fyx.1_Missense_Mutation_p.R366L	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	402	PAC.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCGTTCCGGGCGCGAAACCGA	0.537000												
PPP1R7	5510	broad.mit.edu	37	2	242089932	242089932	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:242089932G>A	uc002wat.1	+	1	37	c.22G>A	c.(22-24)GGG>AGG	p.G8R	PPP1R7_uc010fzm.1_Intron|PPP1R7_uc002war.2_Missense_Mutation_p.G8R|PPP1R7_uc002was.2_Missense_Mutation_p.G8R|PPP1R7_uc002wau.1_Missense_Mutation_p.G8R|PASK_uc002wao.1_5'Flank|PASK_uc010zom.1_5'Flank|PASK_uc010fzl.1_5'Flank|PASK_uc010zon.1_5'Flank|PASK_uc002waq.2_5'Flank	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	8						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		ACGCGGCGCGGGGCAGCAACA	0.721000												
KIF16B	55614	broad.mit.edu	37	20	16410511	16410511	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:16410511T>G	uc002wpg.1	-	13	1577	c.1419A>C	c.(1417-1419)TTA>TTC	p.L473F	KIF16B_uc010gch.1_Missense_Mutation_p.L473F|KIF16B_uc010gci.1_Missense_Mutation_p.L473F|KIF16B_uc010gcj.1_Missense_Mutation_p.L473F	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	473					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						TTTCTACCTTTAAATGATATA	0.338000												
TTLL9	164395	broad.mit.edu	37	20	30526998	30526998	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:30526998G>T	uc010gdx.1	+	14	1425	c.1172G>T	c.(1171-1173)GGC>GTC	p.G391V	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.G293V|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	391					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGAATGATGGCCCTGTTAGC	0.592000												
MAFB	9935	broad.mit.edu	37	20	39317195	39317195	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:39317195G>A	uc002xji.2	-	1	682	c.296C>T	c.(295-297)GCG>GTG	p.A99V		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	99					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				CAGGTTGAGCGCCTCGGGGTT	0.622000			T	IGH@	MM							
PTPRT	11122	broad.mit.edu	37	20	40770578	40770578	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:40770578T>A	uc002xkg.2	-	18	2931	c.2747A>T	c.(2746-2748)AAT>ATT	p.N916I	PTPRT_uc010ggj.2_Missense_Mutation_p.N935I|PTPRT_uc010ggi.2_Missense_Mutation_p.N119I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	916	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCATATCGATTCTTATTGCG	0.488000												
PTPRT	11122	broad.mit.edu	37	20	40770584	40770584	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:40770584T>G	uc002xkg.2	-	18	2925	c.2741A>C	c.(2740-2742)AAT>ACT	p.N914T	PTPRT_uc010ggj.2_Missense_Mutation_p.N933T|PTPRT_uc010ggi.2_Missense_Mutation_p.N117T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	914	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCGATTCTTATTGCGGTTTTC	0.493000												
KCNQ2	3785	broad.mit.edu	37	20	62038613	62038613	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr20:62038613G>T	uc002yey.1	-	17	2180	c.2003C>A	c.(2002-2004)CCG>CAG	p.P668Q	KCNQ2_uc002yez.1_Missense_Mutation_p.P637Q|KCNQ2_uc002yfa.1_Missense_Mutation_p.P650Q|KCNQ2_uc002yfb.1_Missense_Mutation_p.P640Q	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	potassium voltage-gated channel KQT-like protein	668	Cytoplasmic (Potential).				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTGGTACGGCGGCGCCGGCTC	0.622000												
NCAM2	4685	broad.mit.edu	37	21	22906909	22906909	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr21:22906909A>T	uc002yld.1	+	17	2583	c.2334A>T	c.(2332-2334)AGA>AGT	p.R778S	NCAM2_uc011acb.1_Missense_Mutation_p.R636S	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	778	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGGATGAAAGAGTTACTAATC	0.398000												
RCAN1	1827	broad.mit.edu	37	21	35893851	35893851	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr21:35893851C>A	uc002yue.2	-	3	604	c.532G>T	c.(532-534)GCG>TCG	p.A178S	RCAN1_uc002yuc.2_Missense_Mutation_p.A97S|RCAN1_uc002yud.2_Missense_Mutation_p.A43S|RCAN1_uc002yub.2_Missense_Mutation_p.A123S|RCAN1_uc011adx.1_Missense_Mutation_p.A123S	NM_004414	NP_004405	P53805	RCAN1_HUMAN	calcipressin 1 isoform a	178					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0						ACTGGGGTCGCATCTTCCACT	0.577000												
CECR2	27443	broad.mit.edu	37	22	18020105	18020105	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr22:18020105T>A	uc010gqw.1	+	13	1560	c.1434T>A	c.(1432-1434)TAT>TAA	p.Y478*	CECR2_uc010gqv.1_Nonsense_Mutation_p.Y337*|CECR2_uc002zml.2_Nonsense_Mutation_p.Y337*	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	520	Bromo.				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)		CTATAGAGTATACCAAGATGT	0.348000												
VPREB1	7441	broad.mit.edu	37	22	22599607	22599607	+	Missense_Mutation	SNP	A	A	G	rs143361893		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr22:22599607A>G	uc002zvx.1	+	2	322	c.296A>G	c.(295-297)TAT>TGT	p.Y99C	LOC96610_uc011aim.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	immunoglobulin iota chain precursor	99	Ig-like V-type.|Framework-3.				immune response	extracellular region	antigen binding|protein binding				0	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		AACAGGGGGTATTTGAGCATC	0.478000												
ADORA2A	135	broad.mit.edu	37	22	24837199	24837199	+	Silent	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr22:24837199T>C	uc002zzx.2	+	5	1744	c.981T>C	c.(979-981)CAT>CAC	p.H327H	ADORA2A_uc002zzy.3_Silent_p.H327H|ADORA2A_uc011ajs.1_Silent_p.H188H|ADORA2A_uc010gup.2_Silent_p.H327H|ADORA2A_uc010guq.2_Silent_p.H327H|ADORA2A_uc003aab.2_Silent_p.H327H|ADORA2A_uc003aac.2_Silent_p.H188H|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	adenosine A2a receptor	327	Cytoplasmic.				apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding				0	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGGCAGCTCATGGCAGTGACG	0.642000												
CNTN6	27255	broad.mit.edu	37	3	1363393	1363393	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:1363393A>G	uc003boz.2	+	8	1088	c.821A>G	c.(820-822)AAG>AGG	p.K274R	CNTN6_uc011asj.1_Missense_Mutation_p.K202R|CNTN6_uc003bpa.2_Missense_Mutation_p.K274R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	274	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGAAAGTCAAGTACAGCAAA	0.448000												
C3orf32	51066	broad.mit.edu	37	3	8673781	8673781	+	Silent	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:8673781G>T	uc003bqu.2	-	5	534	c.288C>A	c.(286-288)ACC>ACA	p.T96T	C3orf32_uc003bqz.2_Silent_p.T96T|C3orf32_uc003bqt.2_Silent_p.T45T|C3orf32_uc011atg.1_Silent_p.T118T|C3orf32_uc003bqv.2_Silent_p.T45T|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Silent_p.T96T	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	hypothetical protein LOC51066	96										skin(1)	1						ATTCACTAAAGGTCTCCAGAC	0.423000												
SRGAP3	9901	broad.mit.edu	37	3	9057396	9057396	+	Silent	SNP	G	G	A	rs141284390	byFrequency	TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:9057396G>A	uc003brf.1	-	15	2374	c.1698C>T	c.(1696-1698)GAC>GAT	p.D566D	SRGAP3_uc003brg.1_Silent_p.D542D|SRGAP3_uc003bri.1_RNA	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	566	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CATTTTGATCGTCCACAAGGG	0.448000			T	RAF1	pilocytic astrocytoma							
BRPF1	7862	broad.mit.edu	37	3	9781151	9781151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:9781151G>A	uc003bse.2	+	3	1467	c.1068G>A	c.(1066-1068)TGG>TGA	p.W356*	BRPF1_uc003bsf.2_Nonsense_Mutation_p.W356*|BRPF1_uc003bsg.2_Nonsense_Mutation_p.W356*|BRPF1_uc011ati.1_Nonsense_Mutation_p.W356*	NM_004634	NP_004625	P55201	BRPF1_HUMAN	bromodomain and PHD finger-containing protein 1	356					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Medulloblastoma(99;0.227)					GTGCCTTGTGGATCCCTGAGG	0.587000												
IQSEC1	9922	broad.mit.edu	37	3	12983126	12983126	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:12983126C>T	uc003bxt.2	-	2	314	c.305G>A	c.(304-306)CGC>CAC	p.R102H	IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Missense_Mutation_p.R88H	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1 isoform b	102					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1						TGAGCGTGAGCGCTTGATGGC	0.657000												
RFTN1	23180	broad.mit.edu	37	3	16535246	16535246	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:16535246G>A	uc003cay.2	-	2	413	c.131C>T	c.(130-132)ACG>ATG	p.T44M		NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	44						plasma membrane				ovary(3)|central_nervous_system(1)	4						ACTCAGAGTCGTGAACTCCAG	0.547000												
TRIM71	131405	broad.mit.edu	37	3	32933115	32933115	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:32933115C>T	uc003cff.2	+	4	2482	c.2419C>T	c.(2419-2421)CGC>TGC	p.R807C		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	807	NHL 5.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CCAGGAAGGGCGCATCATTGT	0.592000												
TRAK1	22906	broad.mit.edu	37	3	42244001	42244001	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:42244001C>T	uc003cky.2	+	13	1717	c.1501C>T	c.(1501-1503)CGG>TGG	p.R501W	TRAK1_uc011azh.1_Missense_Mutation_p.R501W|TRAK1_uc011azi.1_Missense_Mutation_p.R501W|TRAK1_uc003ckz.3_Missense_Mutation_p.R427W|TRAK1_uc011azj.1_Missense_Mutation_p.R427W|TRAK1_uc003cla.2_Missense_Mutation_p.R443W	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	501	Interaction with HGS.|Potential.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1						GGCGCTGAGGCGGCTGTCCCT	0.647000												
KBTBD5	131377	broad.mit.edu	37	3	42727916	42727916	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:42727916G>A	uc003clv.1	+	1	906	c.806G>A	c.(805-807)CGG>CAG	p.R269Q		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	269										ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ACCACGCTGCGGAAGAAAAAG	0.617000												
COL7A1	1294	broad.mit.edu	37	3	48608296	48608296	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:48608296G>A	uc003ctz.2	-	94	7271	c.7270C>T	c.(7270-7272)CGG>TGG	p.R2424W		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	2424	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCTCACCCGCTCTCCACTA	0.667000												
BSN	8927	broad.mit.edu	37	3	49688122	49688122	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:49688122G>A	uc003cxe.3	+	4	1710	c.1596G>A	c.(1594-1596)CCG>CCA	p.P532P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	532					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCCCCTGCCGCCGCCCACCT	0.642000												
PRICKLE2	166336	broad.mit.edu	37	3	64133061	64133061	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:64133061C>T	uc003dmf.2	-	7	1691	c.1105G>A	c.(1105-1107)GTA>ATA	p.V369I		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	369						cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGGGGGTCTACGTCGGCTGAC	0.607000												
CNTN3	5067	broad.mit.edu	37	3	74316531	74316531	+	Splice_Site	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:74316531T>C	uc003dpm.1	-	20	2785	c.2705_splice	c.e20-1	p.P902_splice		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor						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)		GACTGGGAGCTTGAAATGCAA	0.413000												
CD80	941	broad.mit.edu	37	3	119263627	119263627	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:119263627C>T	uc003ecq.2	-	3	583	c.188G>A	c.(187-189)CGC>CAC	p.R63H	CD80_uc010hqt.1_Missense_Mutation_p.R63H|CD80_uc010hqu.1_Missense_Mutation_p.R63H|CD80_uc003ecr.1_Missense_Mutation_p.R63H	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	63	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)	CCAGTAGATGCGAGTTTGTGC	0.468000												
ADPRH	141	broad.mit.edu	37	3	119305464	119305464	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:119305464T>A	uc003ecs.2	+	4	929	c.631T>A	c.(631-633)TAC>AAC	p.Y211N	ADPRH_uc010hqv.2_Missense_Mutation_p.Y211N|ADPRH_uc011bjb.1_Missense_Mutation_p.Y104N|ADPRH_uc003ect.2_Missense_Mutation_p.Y211N	NM_001125	NP_001116	P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	211					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			ovary(1)	1		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CCAATCAGGCTACTTTGTAGA	0.468000												
STXBP5L	9515	broad.mit.edu	37	3	120959317	120959317	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:120959317C>A	uc003eec.3	+	14	1503	c.1363C>A	c.(1363-1365)CTT>ATT	p.L455I	STXBP5L_uc011bji.1_Missense_Mutation_p.L455I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	455	WD 8.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		AGCTTGGAACCTTGGAGCACA	0.323000												
CASR	846	broad.mit.edu	37	3	121980735	121980735	+	Silent	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:121980735C>A	uc003eev.3	+	4	1225	c.853C>A	c.(853-855)CGG>AGG	p.R285R	CASR_uc003eew.3_Silent_p.R285R	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	285	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGAGATTGTCCGGCGCAATAT	0.572000												
ADCY5	111	broad.mit.edu	37	3	123019008	123019008	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:123019008C>T	uc003egh.1	-	15	2859	c.2859G>A	c.(2857-2859)ACG>ACA	p.T953T	ADCY5_uc003egg.1_Silent_p.T586T|ADCY5_uc003egi.1_Silent_p.T512T	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	953	Helical; (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		TGTCGAAGAGCGTGACACCTG	0.617000												
MBD4	8930	broad.mit.edu	37	3	129156711	129156711	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:129156711G>A	uc003emh.1	-	2	363	c.187C>T	c.(187-189)CCC>TCC	p.P63S	IFT122_uc003eml.2_5'Flank|IFT122_uc003emm.2_5'Flank|IFT122_uc003emn.2_5'Flank|IFT122_uc003emo.2_5'Flank|IFT122_uc003emp.2_5'Flank|IFT122_uc010htc.2_5'Flank|IFT122_uc011bky.1_5'Flank|IFT122_uc003emq.2_5'Flank|MBD4_uc003emi.1_Missense_Mutation_p.P63S|MBD4_uc003emj.1_Missense_Mutation_p.P63S|MBD4_uc003emk.1_Missense_Mutation_p.P63S|MBD4_uc011bkw.1_Missense_Mutation_p.P63S|IFT122_uc011bkx.1_5'Flank	NM_003925	NP_003916	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	63					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			ovary(1)|lung(1)	2						TGTAGCAAGGGATTACATTCA	0.428000								BER_DNA_glycosylases				
PLOD2	5352	broad.mit.edu	37	3	145838953	145838953	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:145838953T>C	uc003evs.1	-	3	790	c.284A>G	c.(283-285)GAA>GGA	p.E95G	PLOD2_uc011bnm.1_Missense_Mutation_p.E40G|PLOD2_uc003evr.1_Missense_Mutation_p.E95G	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	95					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	TTCCATGACTTCTTTCATTAA	0.373000												
NAALADL2	254827	broad.mit.edu	37	3	174814909	174814909	+	Missense_Mutation	SNP	G	G	A	rs150099163	by1000genomes	TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:174814909G>A	uc003fit.2	+	2	460	c.373G>A	c.(373-375)GTC>ATC	p.V125I	NAALADL2_uc003fiu.1_Missense_Mutation_p.V118I	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	125	Helical; Signal-anchor for type II membrane protein; (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTTTTGCCACGTCTTAAAAAT	0.388000												
LRRC15	131578	broad.mit.edu	37	3	194080940	194080940	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr3:194080940C>T	uc003ftu.2	-	2	919	c.833G>A	c.(832-834)GGG>GAG	p.G278E	LRRC15_uc003ftt.2_Missense_Mutation_p.G284E	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15 isoform b	278	Extracellular (Potential).|LRR 10.					integral to membrane				ovary(3)	3	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CAGGGAATTCCCAAAGAGAGT	0.562000												
FGFR3	2261	broad.mit.edu	37	4	1807568	1807568	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:1807568C>T	uc003gdr.3	+	13	1993	c.1737C>T	c.(1735-1737)TTC>TTT	p.F579F	FGFR3_uc003gdu.2_Silent_p.F581F|FGFR3_uc003gds.3_Silent_p.F467F|FGFR3_uc003gdq.3_Silent_p.F580F	NM_000142	NP_000133	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3 isoform 1	579	Protein kinase.|Cytoplasmic (Potential).				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACTACTCCTTCGACACCTGCA	0.562000		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome			
EVC	2121	broad.mit.edu	37	4	5735085	5735085	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:5735085G>A	uc003gil.1	+	5	809	c.625G>A	c.(625-627)GTT>ATT	p.V209I	EVC_uc003gim.1_RNA	NM_153717	NP_714928	P57679	EVC_HUMAN	Ellis van Creveld syndrome protein	209					muscle organ development	integral to membrane				ovary(1)|skin(1)	2		Myeloproliferative disorder(84;0.117)				CAGTGTAGACGTTGACCTGTG	0.453000												
CRMP1	1400	broad.mit.edu	37	4	5838597	5838597	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:5838597G>A	uc003gip.2	-	11	1106	c.1005C>T	c.(1003-1005)CCC>CCT	p.P335P	CRMP1_uc003gin.1_Silent_p.P247P|CRMP1_uc003giq.2_Silent_p.P335P|CRMP1_uc003gir.2_Silent_p.P330P|CRMP1_uc003gis.2_Silent_p.P449P	NM_001313	NP_001304	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1 isoform 2	335					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			ovary(2)	2				Colorectal(103;0.0721)		CAGTGCTGTAGGGACAGTGGC	0.562000												
LDB2	9079	broad.mit.edu	37	4	16590368	16590368	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:16590368G>A	uc003goz.2	-	4	812	c.496C>T	c.(496-498)CGA>TGA	p.R166*	LDB2_uc003gpa.2_Nonsense_Mutation_p.R166*|LDB2_uc003gpb.2_Nonsense_Mutation_p.R166*|LDB2_uc011bxh.1_Nonsense_Mutation_p.R166*|LDB2_uc010iee.2_Nonsense_Mutation_p.R166*|LDB2_uc003goy.2_Nonsense_Mutation_p.R42*|LDB2_uc011bxi.1_Nonsense_Mutation_p.R42*	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	166							LIM domain binding|transcription cofactor activity				0						ACTAACTCTCGGTATTGTCTA	0.393000												
CCDC158	339965	broad.mit.edu	37	4	77283351	77283351	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:77283351C>G	uc003hkb.3	-	12	2101	c.1948G>C	c.(1948-1950)GAC>CAC	p.D650H		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	650	Potential.									skin(3)|ovary(2)|pancreas(1)	6						TGTTTGATGTCCTTCACTGCA	0.448000												
EMCN	51705	broad.mit.edu	37	4	101338291	101338291	+	Silent	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:101338291T>C	uc003hvr.2	-	9	851	c.672A>G	c.(670-672)CCA>CCG	p.P224P	EMCN_uc011cel.1_Silent_p.P211P|EMCN_uc011cem.1_Silent_p.P141P	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	endomucin isoform 1	224	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane					0				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TTCCATTTTCTGGTGTGCCTA	0.398000												
ENPEP	2028	broad.mit.edu	37	4	111441511	111441511	+	Silent	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:111441511T>C	uc003iab.3	+	10	2058	c.1716T>C	c.(1714-1716)CCT>CCC	p.P572P		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	572	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTCAGCCCCCTTCAGATCTTG	0.408000												
KIAA1109	84162	broad.mit.edu	37	4	123161243	123161243	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr4:123161243T>G	uc003ieh.2	+	27	4451	c.4406T>G	c.(4405-4407)TTA>TGA	p.L1469*	KIAA1109_uc003iei.1_Nonsense_Mutation_p.L1222*|KIAA1109_uc010ins.1_Nonsense_Mutation_p.L812*|KIAA1109_uc003iek.2_Nonsense_Mutation_p.L88*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1469					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						GTTTCTGCGTTAGGTGGAGAA	0.418000												
SDHA	6389	broad.mit.edu	37	5	236617	236617	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:236617G>A	uc003jao.3	+	10	1450	c.1335G>A	c.(1333-1335)TCG>TCA	p.S445S	SDHA_uc011clv.1_Silent_p.S445S|SDHA_uc011clw.1_Silent_p.S397S|SDHA_uc003jap.3_Silent_p.S445S|SDHA_uc003jaq.3_Silent_p.S220S|SDHA_uc003jar.3_Silent_p.S39S	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	445					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCTGTGCCTCGGTACATGGTG	0.597000									Familial_Paragangliomas			
SPEF2	79925	broad.mit.edu	37	5	35759705	35759705	+	Silent	SNP	C	C	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:35759705C>G	uc003jjo.2	+	25	3615	c.3504C>G	c.(3502-3504)CTC>CTG	p.L1168L	SPEF2_uc003jjp.1_Silent_p.L654L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	KPL2 protein isoform 1	1168					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			skin(2)|ovary(1)|central_nervous_system(1)	4	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAGAGACTCCTTCAAGATT	0.373000												
PTGER4	5734	broad.mit.edu	37	5	40681868	40681868	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:40681868G>A	uc003jlz.2	+	2	1365	c.773G>A	c.(772-774)CGG>CAG	p.R258Q		NM_000958	NP_000949	P35408	PE2R4_HUMAN	prostaglandin E receptor 4, subtype EP4	258	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			lung(2)	2						CGGCGCCGCCGGAGCTTCCGC	0.706000												
GPBP1	65056	broad.mit.edu	37	5	56542945	56542945	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:56542945C>T	uc003jrh.3	+	8	1981	c.707C>T	c.(706-708)ACT>ATT	p.T236I	GPBP1_uc010iwg.2_Missense_Mutation_p.T256I|GPBP1_uc003jri.3_Missense_Mutation_p.T65I|GPBP1_uc003jrj.3_Missense_Mutation_p.T243I|GPBP1_uc003jrk.3_Missense_Mutation_p.T243I|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AAAGTTGGAACTTCTTTCCCT	0.358000												
RHOBTB3	22836	broad.mit.edu	37	5	95072640	95072640	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:95072640C>T	uc003klm.2	+	3	813	c.276C>T	c.(274-276)GGC>GGT	p.G92G	RHOBTB3_uc003klk.1_5'UTR	NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	92	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TAATTGGGGGCGCTGACATCA	0.338000												
ST8SIA4	7903	broad.mit.edu	37	5	100147763	100147763	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:100147763T>C	uc003knk.2	-	5	1196	c.868A>G	c.(868-870)AGA>GGA	p.R290G		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	290	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCACAGAATCTTGTGGCAAGT	0.363000												
SEPT8	23176	broad.mit.edu	37	5	132097231	132097231	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:132097231C>T	uc003kxr.2	-	7	1119	c.881G>A	c.(880-882)AGC>AAC	p.S294N	SEPT8_uc003kxs.1_Missense_Mutation_p.S294N|SEPT8_uc003kxu.2_Missense_Mutation_p.S294N|SEPT8_uc011cxi.1_Missense_Mutation_p.S292N|SEPT8_uc003kxv.2_Missense_Mutation_p.S292N|SEPT8_uc003kxt.2_Missense_Mutation_p.S234N	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	septin 8 isoform a	294					cell cycle	septin complex	GTP binding|protein binding			ovary(2)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAGTGCCGGCTGTGGGTCTG	0.587000												
HTR4	3360	broad.mit.edu	37	5	147889194	147889194	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:147889194C>T	uc003lpn.2	-	6	1065	c.901G>A	c.(901-903)GGC>AGC	p.G301S	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.G301S|HTR4_uc003lpj.1_Missense_Mutation_p.G301S|HTR4_uc003lpk.2_Missense_Mutation_p.G301S|HTR4_uc011dby.1_Missense_Mutation_p.G301S|HTR4_uc003lpl.2_Missense_Mutation_p.G315S|HTR4_uc003lpm.2_Missense_Mutation_p.G301S|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.G301S	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform b	301	Helical; Name=7; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TTGATATAGCCGAGCCAGAGG	0.488000												
KIAA1191	57179	broad.mit.edu	37	5	175774615	175774615	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr5:175774615G>A	uc003mdw.2	-	9	1278	c.906C>T	c.(904-906)CCC>CCT	p.P302P	KIAA1191_uc003mdx.2_Silent_p.P283P|KIAA1191_uc003mdy.2_Silent_p.P302P|KIAA1191_uc003mea.2_Silent_p.P95P|KIAA1191_uc003mdz.2_RNA	NM_020444	NP_065177	Q96A73	K1191_HUMAN	hypothetical protein LOC57179 isoform a	302							protein binding			ovary(1)	1	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	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;0.000178)	Kidney(146;0.101)		AGAAGCCAGTGGGTGTGAGCA	0.507000												
SLC17A1	6568	broad.mit.edu	37	6	25819308	25819308	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:25819308A>G	uc003nfh.3	-	6	720	c.604T>C	c.(604-606)TTC>CTC	p.F202L	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.F200L|SLC17A1_uc010jqc.1_Missense_Mutation_p.F200L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	202	Helical; (Potential).				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						AAAATATAGAAGACCATGGGC	0.343000												
NOTCH4	4855	broad.mit.edu	37	6	32169879	32169879	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:32169879G>A	uc003obb.2	-	21	3868	c.3729C>T	c.(3727-3729)TAC>TAT	p.Y1243Y	NOTCH4_uc003oba.2_Translation_Start_Site|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	1243	LNR 2.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TCTCACAGTCGTAGCCATCAA	0.612000												
HLA-DQA2	3118	broad.mit.edu	37	6	32713088	32713088	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:32713088A>C	uc003obx.2	+	2	293	c.235A>C	c.(235-237)AGT>CGT	p.S79R		NM_020056	NP_064440	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ	79	Extracellular (Potential).|Alpha-1.				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)	CAAATTTATAAGTTTTGACCC	0.468000												
SPDEF	25803	broad.mit.edu	37	6	34512202	34512202	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:34512202C>T	uc003ojq.1	-	2	446	c.31G>A	c.(31-33)GTA>ATA	p.V11I	SPDEF_uc011dsq.1_Missense_Mutation_p.V11I	NM_012391	NP_036523	O95238	SPDEF_HUMAN	SAM pointed domain containing ets transcription	11					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(3)|ovary(1)|central_nervous_system(1)	5						CTGGGGGATACGCTGCTCAGA	0.657000												
CD2AP	23607	broad.mit.edu	37	6	47471062	47471062	+	Silent	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:47471062A>G	uc003oyw.2	+	2	507	c.51A>G	c.(49-51)GAA>GAG	p.E17E		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	17	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			ovary(1)|skin(1)	2			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATGATGATGAATTAACTATTC	0.373000												
C6orf168	84553	broad.mit.edu	37	6	99771484	99771484	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:99771484A>T	uc003ppj.3	-	4	942	c.659T>A	c.(658-660)CTT>CAT	p.L220H	C6orf168_uc003ppi.3_Intron	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	220										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)		ACCACCACTAAGAGAGAGCAT	0.512000												
LAMA2	3908	broad.mit.edu	37	6	129475706	129475706	+	Silent	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:129475706A>C	uc003qbn.2	+	8	1189	c.1084A>C	c.(1084-1086)AGA>CGA	p.R362R	LAMA2_uc003qbo.2_Silent_p.R362R	NM_000426	NP_000417	P24043	LAMA2_HUMAN	laminin alpha 2 subunit isoform a precursor	362	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|breast(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGTTGCCAGAAGAAATCTGAG	0.348000												
C6orf191	253582	broad.mit.edu	37	6	130164750	130164750	+	Splice_Site	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:130164750T>G	uc003qbs.2	-	3	203	c.120_splice	c.e3-1	p.E40_splice		NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN	hypothetical protein LOC253582							integral to membrane				large_intestine(1)	1				GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)		TCATGCACCCTAAAGATGTTA	0.333000												
CCDC28A	25901	broad.mit.edu	37	6	139101111	139101111	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr6:139101111T>G	uc003qie.2	+	3	736	c.581T>G	c.(580-582)CTT>CGT	p.L194R		NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	194											0				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TCTGGAAAACTTCAAGCATTT	0.393000												
THSD7A	221981	broad.mit.edu	37	7	11446010	11446010	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:11446010T>G	uc003ssf.3	-	21	4406	c.4154A>C	c.(4153-4155)GAG>GCG	p.E1385A		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1385	TSP type-1 14.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAGAATTCCTCATCCACCAC	0.463000										HNSCC(18;0.044)		
OSBPL3	26031	broad.mit.edu	37	7	24905012	24905012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:24905012G>A	uc003sxf.2	-	7	1027	c.622C>T	c.(622-624)CGA>TGA	p.R208*	OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Nonsense_Mutation_p.R208*|OSBPL3_uc003sxh.2_Nonsense_Mutation_p.R208*|OSBPL3_uc003sxi.2_Nonsense_Mutation_p.R208*	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	oxysterol-binding protein-like protein 3 isoform	208					lipid transport		lipid binding|protein binding			skin(1)	1						AATGGAACTCGTGTCTCACCA	0.403000												
PDE1C	5137	broad.mit.edu	37	7	31920359	31920359	+	Splice_Site	SNP	C	C	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:31920359C>G	uc003tcm.1	-	3	711	c.242_splice	c.e3+1	p.R81_splice	PDE1C_uc003tcn.1_Splice_Site_p.R81_splice|PDE1C_uc003tco.1_Splice_Site_p.R141_splice|PDE1C_uc003tcr.2_Splice_Site_p.R81_splice|PDE1C_uc003tcs.2_Splice_Site_p.R81_splice	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TTTTAGCTTACCTTGTTTCAT	0.363000												
HECW1	23072	broad.mit.edu	37	7	43483816	43483816	+	Splice_Site	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:43483816G>T	uc003tid.1	+	11	1651	c.1046_splice	c.e11-1	p.D349_splice	HECW1_uc011kbi.1_Splice_Site_p.D349_splice	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						CTTACCAGCAGATGATGAGGA	0.488000												
GRM3	2913	broad.mit.edu	37	7	86415969	86415969	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:86415969C>T	uc003uid.2	+	3	1960	c.861C>T	c.(859-861)GCC>GCT	p.A287A	GRM3_uc010lef.2_Silent_p.A285A|GRM3_uc010leg.2_Silent_p.A159A|GRM3_uc010leh.2_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	287	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCATTGCAGCCGCCAGCCGCG	0.662000												
C7orf58	79974	broad.mit.edu	37	7	120629879	120629879	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:120629879C>A	uc003vjq.3	+	2	651	c.204C>A	c.(202-204)GAC>GAA	p.D68E	C7orf58_uc003vjr.1_Missense_Mutation_p.D68E|C7orf58_uc003vjs.3_Missense_Mutation_p.D68E	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	68						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					TCTCTCAGGACAAACAGTGCT	0.517000												
PLXNA4	91584	broad.mit.edu	37	7	131853325	131853325	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:131853325C>A	uc003vra.3	-	22	4253	c.4024G>T	c.(4024-4026)GGC>TGC	p.G1342C		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1342	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						TGCCGGTAGCCCGGGACCTGC	0.597000												
TRPV5	56302	broad.mit.edu	37	7	142626594	142626594	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:142626594C>T	uc003wby.1	-	4	680	c.416G>A	c.(415-417)CGC>CAC	p.R139H	TRPV5_uc003wbz.2_Missense_Mutation_p.R139H	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	139	ANK 3.|Cytoplasmic (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			ovary(3)|central_nervous_system(2)|skin(1)	6	Melanoma(164;0.059)					ACTGGCCCTGCGGGTGAGCAG	0.602000												
PRKAG2	51422	broad.mit.edu	37	7	151257696	151257696	+	Missense_Mutation	SNP	C	C	T	rs121908991		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr7:151257696C>T	uc003wkk.2	-	15	2203	c.1592G>A	c.(1591-1593)CGG>CAG	p.R531Q	PRKAG2_uc003wki.2_Missense_Mutation_p.R290Q|PRKAG2_uc011kvl.1_Missense_Mutation_p.R406Q|PRKAG2_uc003wkj.2_Missense_Mutation_p.R487Q|PRKAG2_uc003wkl.2_Missense_Mutation_p.R79Q	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	531	CBS 4.		R -> Q (in GSDH; reduction of binding affinities for AMP and ATP; loss of cooperative binding; enhanced basal activity; increased phosphorylation of the alpha-subunit).|R -> G (in WPWS; absence of cardiac hypertrophy; onset in childhood).		ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(1)|kidney(1)	2	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CACCACCAGCCGATGGACCTG	0.398000												
DLC1	10395	broad.mit.edu	37	8	13357033	13357033	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:13357033A>C	uc003wwm.2	-	2	992	c.548T>G	c.(547-549)GTT>GGT	p.V183G	DLC1_uc003wwn.2_Missense_Mutation_p.V183G|DLC1_uc011kxy.1_Missense_Mutation_p.V183G	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	183					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						AGAGTCAGTAACTTTTCTCTC	0.393000												
MSR1	4481	broad.mit.edu	37	8	16007773	16007773	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:16007773T>G	uc003wwz.2	-	7	1144	c.946A>C	c.(946-948)AGT>CGT	p.S316R	MSR1_uc010lsu.2_Missense_Mutation_p.S334R|MSR1_uc003wxa.2_Missense_Mutation_p.S316R|MSR1_uc003wxb.2_Missense_Mutation_p.S316R|MSR1_uc011kxz.1_Missense_Mutation_p.S90R	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	316	Collagen-like.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AGTCCTCGACTTCCAGGAAAG	0.363000												
OPRK1	4986	broad.mit.edu	37	8	54147490	54147490	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:54147490A>C	uc003xrh.1	-	2	814	c.439T>G	c.(439-441)TTC>GTC	p.F147V	OPRK1_uc003xri.1_Missense_Mutation_p.F147V|OPRK1_uc010lyc.1_Missense_Mutation_p.F58V	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	147	Helical; Name=3; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GTCAAGGTGAAGATGCTGGTG	0.473000												
ATP6V1H	51606	broad.mit.edu	37	8	54669124	54669124	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:54669124C>T	uc003xrl.2	-	12	1420	c.1268G>A	c.(1267-1269)CGA>CAA	p.R423Q	ATP6V1H_uc003xrk.2_Missense_Mutation_p.R383Q|ATP6V1H_uc003xrm.2_Missense_Mutation_p.R423Q|ATP6V1H_uc003xrn.2_Missense_Mutation_p.R405Q|ATP6V1H_uc011ldv.1_Missense_Mutation_p.R343Q|ATP6V1H_uc010lyd.2_Missense_Mutation_p.R359Q	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	423					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CCGTTTGCCTCGTGGATAATG	0.393000												
PKHD1L1	93035	broad.mit.edu	37	8	110509266	110509266	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:110509266G>T	uc003yne.2	+	64	10550	c.10446G>T	c.(10444-10446)TGG>TGT	p.W3482C		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3482	PbH1 8.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTACCATTTGGACATGCTGGG	0.338000										HNSCC(38;0.096)		
CSMD3	114788	broad.mit.edu	37	8	113702269	113702269	+	Silent	SNP	T	T	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:113702269T>C	uc003ynu.2	-	14	2142	c.1983A>G	c.(1981-1983)AAA>AAG	p.K661K	CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Silent_p.K621K|CSMD3_uc011lhx.1_Silent_p.K557K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	661	Extracellular (Potential).					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						CACAACTTTCTTTCTCAATTT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
TRPS1	7227	broad.mit.edu	37	8	116632178	116632178	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:116632178T>G	uc003ynz.2	-	2	567	c.108A>C	c.(106-108)GAA>GAC	p.E36D	TRPS1_uc011lhy.1_Missense_Mutation_p.E40D|TRPS1_uc003yny.2_Missense_Mutation_p.E49D|TRPS1_uc010mcy.2_Missense_Mutation_p.E36D	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	36					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGCAGAAAATTCTTTGTTCT	0.438000									Langer-Giedion_syndrome			
ENPP2	5168	broad.mit.edu	37	8	120577135	120577135	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:120577135A>C	uc003yot.1	-	23	2278	c.2192T>G	c.(2191-2193)GTT>GGT	p.V731G	ENPP2_uc011lic.1_Missense_Mutation_p.V269G|ENPP2_uc003yor.1_Missense_Mutation_p.V366G|ENPP2_uc003yos.1_Missense_Mutation_p.V783G|ENPP2_uc010mdd.1_Missense_Mutation_p.V756G	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	731					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TATCACGTTAACTCCATTTCT	0.358000												
KHDRBS3	10656	broad.mit.edu	37	8	136561128	136561128	+	Silent	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:136561128A>G	uc003yuv.2	+	4	850	c.456A>G	c.(454-456)AAA>AAG	p.K152K	KHDRBS3_uc003yuw.2_Silent_p.K152K	NM_006558	NP_006549	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal	152					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			ovary(2)	2	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AAGAAATCAAAAAGTTCCTCA	0.373000												
COL22A1	169044	broad.mit.edu	37	8	139890165	139890165	+	Silent	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:139890165C>T	uc003yvd.2	-	3	933	c.486G>A	c.(484-486)GCG>GCA	p.A162A		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	162	Poly-Ala.|VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGCTGCCGCCGCGGCGTCCA	0.726000										HNSCC(7;0.00092)		
CYP11B1	1584	broad.mit.edu	37	8	143960475	143960475	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr8:143960475C>T	uc003yxi.2	-	2	375	c.368G>A	c.(367-369)CGT>CAT	p.R123H	CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.R123H|CYP11B1_uc010mey.2_Missense_Mutation_p.R168H	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	123					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)	TTTGTGCCCACGATGTTGTCT	0.632000									Familial_Hyperaldosteronism_type_I			
PTPRD	5789	broad.mit.edu	37	9	8518139	8518139	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:8518139A>G	uc003zkk.2	-	20	1963	c.1252T>C	c.(1252-1254)TCC>CCC	p.S418P	PTPRD_uc003zkp.2_Missense_Mutation_p.S418P|PTPRD_uc003zkq.2_Missense_Mutation_p.S418P|PTPRD_uc003zkr.2_Missense_Mutation_p.S412P|PTPRD_uc003zks.2_Missense_Mutation_p.S408P|PTPRD_uc003zkl.2_Missense_Mutation_p.S418P|PTPRD_uc003zkm.2_Missense_Mutation_p.S405P|PTPRD_uc003zkn.2_Missense_Mutation_p.S418P|PTPRD_uc003zko.2_Missense_Mutation_p.S415P	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	418	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGGCACTGGATGGTGCTTGC	0.517000										TSP Lung(15;0.13)		
ELAVL2	1993	broad.mit.edu	37	9	23762096	23762096	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:23762096A>G	uc003zpu.2	-	2	412	c.137T>C	c.(136-138)CTT>CCT	p.L46P	ELAVL2_uc003zps.2_Missense_Mutation_p.L46P|ELAVL2_uc003zpt.2_Missense_Mutation_p.L46P|ELAVL2_uc003zpv.2_Missense_Mutation_p.L46P|ELAVL2_uc003zpw.2_Missense_Mutation_p.L46P	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	46	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GTTCTGAGGAAGGTAGTTGAC	0.433000												
DCAF12	25853	broad.mit.edu	37	9	34125189	34125189	+	Silent	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:34125189G>T	uc003ztt.2	-	2	507	c.165C>A	c.(163-165)GTC>GTA	p.V55V		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	55						centrosome|CUL4 RING ubiquitin ligase complex					0						TCTGTAGCCTGACTTCCCGGT	0.478000												
ARID3C	138715	broad.mit.edu	37	9	34623474	34623474	+	Silent	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:34623474G>T	uc011lon.1	-	4	813	c.813C>A	c.(811-813)TCC>TCA	p.S271S	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT- like)	271	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTGGCAGGCCGGAGGTGGAAC	0.682000												
TRPM3	80036	broad.mit.edu	37	9	73477848	73477848	+	Silent	SNP	T	T	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:73477848T>A	uc004aid.2	-	3	682	c.438A>T	c.(436-438)GGA>GGT	p.G146G	TRPM3_uc004ahw.2_5'UTR|TRPM3_uc004ahx.2_5'UTR|TRPM3_uc004ahy.2_5'UTR|TRPM3_uc004ahz.2_5'UTR|TRPM3_uc004aia.2_5'UTR|TRPM3_uc004aib.2_5'UTR|TRPM3_uc004aic.2_Silent_p.G146G|TRPM3_uc010mor.2_Silent_p.G146G|TRPM3_uc004aie.2_5'UTR|TRPM3_uc004aif.2_5'UTR|TRPM3_uc004aig.2_5'UTR|TRPM3_uc004aii.2_Silent_p.G148G	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	146	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						AATGGCCACCTCCTTGGAACT	0.458000												
C9orf95	54981	broad.mit.edu	37	9	77692120	77692120	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:77692120C>G	uc004aju.2	-	4	722	c.124G>C	c.(124-126)GAG>CAG	p.E42Q	C9orf95_uc004ajs.3_Missense_Mutation_p.E46Q|C9orf95_uc004ajr.3_Missense_Mutation_p.E42Q|C9orf95_uc004ajt.3_Missense_Mutation_p.E42Q	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1 isoform 1	42					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity				0						ATCTCAGACTCTGGCTGGAAA	0.294000												
NTRK2	4915	broad.mit.edu	37	9	87322806	87322806	+	Missense_Mutation	SNP	G	G	A	rs144037140		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:87322806G>A	uc004aoa.1	+	7	1345	c.407G>A	c.(406-408)CGT>CAT	p.R136H	NTRK2_uc004anv.1_Missense_Mutation_p.R136H|NTRK2_uc004any.1_Missense_Mutation_p.R136H|NTRK2_uc004anz.1_Missense_Mutation_p.R136H|NTRK2_uc011lsz.1_Missense_Mutation_p.R136H|NTRK2_uc011lta.1_Missense_Mutation_p.R136H|NTRK2_uc004aob.1_Missense_Mutation_p.R136H|NTRK2_uc011ltb.1_5'UTR	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	136	Extracellular (Potential).|LRR 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						AAACATTTCCGTCACCTTGAC	0.323000										TSP Lung(25;0.17)		
COL15A1	1306	broad.mit.edu	37	9	101748296	101748296	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:101748296C>T	uc004azb.1	+	3	756	c.550C>T	c.(550-552)CGC>TGC	p.R184C	COL15A1_uc004aza.2_Missense_Mutation_p.R184C	NM_001855	NP_001846	P39059	COFA1_HUMAN	alpha 1 type XV collagen precursor	184	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			ovary(6)	6		Acute lymphoblastic leukemia(62;0.0562)				GGAGCACAGCCGCATCCCCTT	0.582000												
SARDH	1757	broad.mit.edu	37	9	136596596	136596596	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:136596596G>A	uc004cep.3	-	4	655	c.521C>T	c.(520-522)GCG>GTG	p.A174V	SARDH_uc004ceo.2_Missense_Mutation_p.A174V|SARDH_uc011mdn.1_Missense_Mutation_p.A174V|SARDH_uc011mdo.1_Missense_Mutation_p.A6V	NM_001134707	NP_001128179	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase precursor	174					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity				0				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CACACCATACGCCTTGCCCAG	0.632000												
PMPCA	23203	broad.mit.edu	37	9	139309092	139309092	+	Silent	SNP	G	G	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr9:139309092G>A	uc004chl.2	+	5	530	c.525G>A	c.(523-525)CGG>CGA	p.R175R	PMPCA_uc011mdy.1_Silent_p.R175R|PMPCA_uc010nbk.2_RNA|PMPCA_uc010nbl.2_Silent_p.R75R|PMPCA_uc011mdz.1_Intron|PMPCA_uc004chm.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	175					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding				0		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGCAGCCCCGGCTAACAGGTG	0.557000												
RS1	6247	broad.mit.edu	37	X	18660255	18660255	+	Missense_Mutation	SNP	G	G	A	rs61753171		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:18660255G>A	uc004cyo.2	-	6	579	c.544C>T	c.(544-546)CGC>TGC	p.R182C	CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	X-linked juvenile retinoschisis protein	182	F5/8 type C.		R -> C (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				ovary(2)	2	Hepatocellular(33;0.183)					GTGGAGGTGCGGTCCGAGTTG	0.592000												
TBX22	50945	broad.mit.edu	37	X	79279565	79279565	+	Silent	SNP	G	G	T			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:79279565G>T	uc010nmg.1	+	4	494	c.360G>T	c.(358-360)CGG>CGT	p.R120R	TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Silent_p.R120R	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN	T-box 22 isoform 1	120	T-box.				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						CTTACAGGCGGATGTTCCCCT	0.478000												
FAM46D	169966	broad.mit.edu	37	X	79698243	79698243	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:79698243A>G	uc004edl.1	+	5	539	c.205A>G	c.(205-207)AGT>GGT	p.S69G	FAM46D_uc004edm.1_Missense_Mutation_p.S69G	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	hypothetical protein LOC169966	69										lung(2)	2						TTCCGTAGCAAGTTACATACT	0.378000												
CYLC1	1538	broad.mit.edu	37	X	83127906	83127906	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:83127906A>G	uc004eei.1	+	4	211	c.190A>G	c.(190-192)AGA>GGA	p.R64G	CYLC1_uc004eeh.1_Missense_Mutation_p.R63G	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	64					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						ACATGACAAAAGAAAACTAGA	0.318000												
PCDH19	57526	broad.mit.edu	37	X	99551362	99551362	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:99551362T>A	uc010nmz.2	-	6	5036	c.3360A>T	c.(3358-3360)AAA>AAT	p.K1120N	PCDH19_uc004efw.3_Missense_Mutation_p.K1072N|PCDH19_uc004efx.3_Missense_Mutation_p.K1073N	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	1120	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						CATGCATGACTTTCTCGCTAT	0.542000												
DCX	1641	broad.mit.edu	37	X	110653315	110653315	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chrX:110653315A>C	uc004epd.2	-	2	727	c.555T>G	c.(553-555)ATT>ATG	p.I185M	DCX_uc011msv.1_Missense_Mutation_p.I185M|DCX_uc004epe.2_Missense_Mutation_p.I104M|DCX_uc004epf.2_Missense_Mutation_p.I104M|DCX_uc004epg.2_Missense_Mutation_p.I104M	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	185	Doublecortin 1.		I -> T (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4						CAATGGTGTAAATGTAACGCA	0.517000												
PLB1	151056	broad.mit.edu	37	2	28805000	28805004	+	Splice_Site	DEL	GGTAC	GGTAC	-	rs146417418		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:28804999_28805003AGGTAC>A	uc002rmb.2	+	24	1676	c.1632_splice	c.e24+1	p.E544_splice	PLB1_uc010ezj.2_Intron|PLB1_uc002rmc.3_Splice_Site_p.E232_splice|PLB1_uc002rmd.1_Splice_Site_p.E54_splice	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	544	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTCCATGCTGAGGTACGGAGGCTAG	0.537												
ACAT1	38	broad.mit.edu	37	11	108013170	108013171	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:108013170_108013171insA	uc001pjy.2	+	9	909_910	c.833_834insA	c.(832-834)GTAfs	p.V278fs	ACAT1_uc001pjx.2_Frame_Shift_Ins_p.V152fs	NM_000019	NP_000010	P24752	THIL_HUMAN	acetyl-Coenzyme A acetyltransferase 1 precursor	278					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			ovary(3)	3		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TCAGGCACAGTAACAGCTGCCA	0.371												
PEX11B	8799	broad.mit.edu	37	1	145517343	145517343	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr1:145517342_145517342GA>G	uc001eny.2	+	1	362	c.126_126GA>G	c.(124-126)cagfs	p.Q42fs	GNRHR2_uc009wiv.2_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.3_5'Flank|PEX11B_uc010oyu.2_Frame_Shift_Del_p.Q28fs	NM_003846	NP_003837	O96011	PX11B_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA.	42					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGAGTTACAGAAACAGATTC	0.542												
PLB1	151056	broad.mit.edu	37	2	28805000	28805004	+	Splice_Site	DEL	GGTAC	GGTAC	-	rs146417418		TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:28804999_28805003AGGTAC>A	uc002rmb.2	+	24	1676	c.1632_splice	c.e24+1	p.E544_splice	PLB1_uc010ezj.2_Intron|PLB1_uc002rmc.3_Splice_Site_p.E232_splice|PLB1_uc002rmd.1_Splice_Site_p.E54_splice	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	544	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTCCATGCTGAGGTACGGAGGCTAG	0.537												
BAZ2B	29994	broad.mit.edu	37	2	160206502	160206505	+	Frame_Shift_Del	DEL	TTAT	TTAT	-			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr2:160206501_160206504ATTAT>A	uc002uao.3	-	27	4983_4986	c.4578_4581ATAAT>T	c.(4576-4581)aataatfs	p.N1526fs	BAZ2B_uc002uap.3_Frame_Shift_Del_p.N1490fs	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TATTAAACAGATTATTAGAGTCTG	0.426												
ACAT1	38	broad.mit.edu	37	11	108013171	108013172	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-8369-01A-11D-2340-08	TCGA-BR-8369-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	289a4096-4e30-4505-a60b-7c3a89da7ee6	acc4a8fb-74bb-4009-b4b7-23941bc1469a	g.chr11:108013170_108013171T>TA	uc001pjy.3	+	8	909_910	c.833_834T>TA	c.(832-834)gtafs	p.V278fs	ACAT1_uc001pjx.3_Frame_Shift_Ins_p.V152fs	NM_000019	NP_000010	P24752	THIL_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.	278					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TCAGGCACAGTAACAGCTGCCA	0.436												
