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
PRAMEF11	440560	broad.mit.edu	37	1	12885059	12885059	+	Missense_Mutation	SNP	C	C	G	rs143004725	by1000genomes	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:12885059C>G	uc001auk.2	-	3	1248	c.1052G>C	c.(1051-1053)tGc>tCc	p.C351S		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	351								p.C351S(2)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGTGGCCATGCAGATGGGATT	0.532												
HCRTR1	3061	broad.mit.edu	37	1	32084853	32084853	+	Silent	SNP	G	G	A	rs142288232		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:32084853G>A	uc009vtx.2	+	2	445	c.60G>A	c.(58-60)ccG>ccA	p.P20P	HCRTR1_uc001btc.4_5'UTR|HCRTR1_uc001btd.2_Silent_p.P20P|HCRTR1_uc010ogl.2_Silent_p.P20P	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	20					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCAGAGAGCCGTCCCCTGTGC	0.607												
MSH4	4438	broad.mit.edu	37	1	76269590	76269590	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:76269590G>A	uc001dhd.2	+	1	534	c.419G>A	c.(418-420)gGa>gAa	p.G140E		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	140					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCACAAGTGGGATATTCAGGT	0.313								Mismatch excision repair (MMR)				
KCNA10	3744	broad.mit.edu	37	1	111061339	111061339	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:111061339T>A	uc001dzt.1	-	0	459	c.71A>T	c.(70-72)gAa>gTa	p.E24V		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	24						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCTGGCTCTTCTTGGATTTC	0.522												
TRIM33	51592	broad.mit.edu	37	1	114969900	114969900	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:114969900C>T	uc001eew.3	-	7	1403	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	TRIM33_uc010owr.2_Missense_Mutation_p.R48H|TRIM33_uc010ows.2_Missense_Mutation_p.R48H|TRIM33_uc001eex.3_Missense_Mutation_p.R440H	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	440					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAATATGACGCAACTGGAA	0.353			T	RET	papillary thyroid							
CRTC2	200186	broad.mit.edu	37	1	153927550	153927550	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:153927550G>A	uc021pab.1	-	1	405	c.246C>T	c.(244-246)gcC>gcT	p.A82A	CRTC2_uc001fde.4_5'Flank|CRTC2_uc001fdf.4_5'Flank	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	82					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGGAACTCGGCCAGGCCAG	0.547												
GON4L	54856	broad.mit.edu	37	1	155791284	155791284	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:155791284G>A	uc001flz.2	-	4	1041	c.944C>T	c.(943-945)aCg>aTg	p.T315M	GON4L_uc001fly.1_Missense_Mutation_p.T315M|GON4L_uc009wrh.1_Missense_Mutation_p.T315M|GON4L_uc001fma.1_Missense_Mutation_p.T315M|GON4L_uc001fmc.3_Missense_Mutation_p.T315M|GON4L_uc001fmd.4_Missense_Mutation_p.T315M|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.T143M|GON4L_uc001fmf.3_Missense_Mutation_p.T9M	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	315					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATATCTTCCGTCTCACTGAT	0.398												
SPTA1	6708	broad.mit.edu	37	1	158609712	158609712	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:158609712C>T	uc001fst.1	-	33	5022	c.4823G>A	c.(4822-4824)cGt>cAt	p.R1608H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1608					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1608C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCTGTTGACGACTGGCCTC	0.463												
DUSP27	92235	broad.mit.edu	37	1	167096396	167096396	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:167096396G>A	uc001geb.1	+	4	2044	c.2028G>A	c.(2026-2028)acG>acA	p.T676T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	676					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGACACGACGTCAGTACTGA	0.637												
C4BPB	725	broad.mit.edu	37	1	207263727	207263727	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:207263727G>T	uc009xcd.3	+	1	423	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	C4BPB_uc001hfi.3_Missense_Mutation_p.G44W|C4BPB_uc001hfj.3_Missense_Mutation_p.G45W|C4BPB_uc001hfl.3_Missense_Mutation_p.G45W|C4BPB_uc001hfk.3_Missense_Mutation_p.G44W|C4BPB_uc001hfm.3_Missense_Mutation_p.G45W|C4BPB_uc010pse.1_Missense_Mutation_p.G35W	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	45	Sushi 1.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						ACAGATTCTGGGGACTTACGT	0.473												
OR2L13	284521	broad.mit.edu	37	1	248263039	248263039	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:248263039G>A	uc001ids.3	+	2	699	c.362G>A	c.(361-363)cGt>cAt	p.R121H	OR2L13_uc021pmc.1_Missense_Mutation_p.R121H	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.R121H(3)|p.R121S(1)|p.R121C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCTACGACCGTTATTTGGCC	0.498												
SVIL	6840	broad.mit.edu	37	10	29751331	29751331	+	Splice_Site	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr10:29751331C>T	uc001iut.1	-	36	7031	c.6278_splice	c.e36-1	p.G2093_splice	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Splice_Site_p.G1007_splice|SVIL_uc001iuu.1_Splice_Site_p.G1667_splice	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	2093					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGATTTTTTCCTGTAGTTACA	0.468												
MUC5B	727897	broad.mit.edu	37	11	1250506	1250506	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr11:1250506C>T	uc001lta.3	+	8	1142	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Silent_p.D361D	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	361	TIL 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGTGTGGACGGCTGCTTCT	0.682												
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr11:5529918_5529920delTGG	uc021qcw.1	-	0	869_871	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_In_Frame_Del_p.T290del	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537												
GAPDH	2597	broad.mit.edu	37	12	6647098	6647098	+	Missense_Mutation	SNP	T	T	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:6647098T>G	uc001qop.1	+	7	976	c.874T>G	c.(874-876)Tcc>Gcc	p.S292A		NM_002046	NP_002037	P04406	G3P_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), mRNA.	292					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	CGACACCCACTCCTCCACCTT	0.582											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ATF7IP	55729	broad.mit.edu	37	12	14650695	14650695	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:14650695G>A	uc001rbw.3	+	14	3659	c.3501G>A	c.(3499-3501)aaG>aaA	p.K1167K	ATF7IP_uc001rbx.3_Silent_p.K1166K|ATF7IP_uc001rby.4_Silent_p.K1167K|ATF7IP_uc001rca.3_Silent_p.K1167K	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1167	Fibronectin type-III.|Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CACACTTGAAGTTAGCACGCG	0.547												
PDE3A	5139	broad.mit.edu	37	12	20769164	20769164	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:20769164C>T	uc001reh.2	+	4	1310	c.1270_splice	c.e4-1	p.R424_splice	PDE3A_uc021qwa.1_Splice_Site_p.R102_splice	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	424					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCTTTCCTAGCGCCTGAGAAG	0.428												
SOAT2	8435	broad.mit.edu	37	12	53512677	53512677	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:53512677G>A	uc001sbv.3	+	8	955	c.867G>A	c.(865-867)acG>acA	p.T289T	SOAT2_uc009zms.3_Intron	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	289					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	p.T289T(2)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GCTGCAGGACGCCCTATGTCA	0.532												
CYP27B1	1594	broad.mit.edu	37	12	58158993	58158993	+	Silent	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:58158993G>T	uc001spz.1	-	4	742	c.590_splice	c.e4-1	p.G197_splice	CYP27B1_uc001sqa.1_5'UTR|CYP27B1_uc001sqb.1_Splice_Site_p.R77_splice|CYP27B1_uc001sqc.1_Splice_Site_p.R77_splice	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	197					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.G197G(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCGCGGCGATGCCTTGTCGGG	0.687											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EFNB2	1948	broad.mit.edu	37	13	107187289	107187289	+	Silent	SNP	C	C	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr13:107187289C>A	uc001vqi.3	-	0	100	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	8					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AGTACTTCCACACGGAGTCCC	0.542												
CTSG	1511	broad.mit.edu	37	14	25043934	25043934	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:25043934G>T	uc001wpq.3	-	2	323	c.286C>A	c.(286-288)Cgc>Agc	p.R96S		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	96	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.R96H(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGAGGGTGGCGGATGGCTCTG	0.532												
LRFN5	145581	broad.mit.edu	37	14	42356801	42356801	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:42356801G>T	uc001wvm.3	+	2	2171	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	LRFN5_uc010ana.3_Missense_Mutation_p.G325W	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	325	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTCCTGAAGGGAAGCTTAT	0.453										HNSCC(30;0.082)		
FOXN3	1112	broad.mit.edu	37	14	89647054	89647054	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:89647054G>A	uc001xxo.4	-	5	1045	c.908C>T	c.(907-909)gCg>gTg	p.A303V	FOXN3_uc001xxn.4_Missense_Mutation_p.A281V|FOXN3_uc010atk.3_Missense_Mutation_p.A281V	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	303					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTCATGGCCGCTGTCACCCC	0.637												
BAHD1	22893	broad.mit.edu	37	15	40758215	40758215	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr15:40758215C>T	uc001zlu.2	+	6	2300	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	BAHD1_uc001zlt.2_Silent_p.D742D|BAHD1_uc010bbp.1_Silent_p.D739D|BAHD1_uc001zlv.2_Silent_p.D740D	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	743	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCTCTGCAGACTATTCCACCC	0.602												
TARSL2	123283	broad.mit.edu	37	15	102242566	102242566	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr15:102242566C>T	uc002bxm.3	-	8	1152	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	366					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGGATTGCCCTCCCAATA	0.353												
IL32	9235	broad.mit.edu	37	16	3119233	3119233	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:3119233C>T	uc002ctq.3	+	5	677	c.582C>T	c.(580-582)ttC>ttT	p.F194F	IL32_uc002ctn.3_Silent_p.F148F|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Silent_p.F194F|IL32_uc010uwp.2_Silent_p.F128F|IL32_uc010btb.3_Silent_p.F138F|IL32_uc002ctl.3_Silent_p.F148F|IL32_uc002ctm.3_Silent_p.F148F|IL32_uc002ctp.3_Silent_p.F128F|IL32_uc002ctr.3_Silent_p.F128F|IL32_uc002ctt.3_Silent_p.F148F|IL32_uc010uwr.2_Silent_p.F108F|IL32_uc002ctu.3_Silent_p.F139F|IL32_uc021tbc.1_Intron	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	194					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGAAACAGTTCCAGAGTTTCT	0.612												
ITGAM	3684	broad.mit.edu	37	16	31309135	31309135	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:31309135G>T	uc002ebr.3	+	13	1668	c.1570G>T	c.(1570-1572)Gcc>Tcc	p.A524S	ITGAM_uc002ebq.3_Missense_Mutation_p.A523S|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Intron	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	523					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTTGGGGCAGCCCTAACAGT	0.607												
CHST5	23563	broad.mit.edu	37	16	75564025	75564025	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:75564025G>A	uc002fej.1	-	4	597	c.276C>T	c.(274-276)ccC>ccT	p.P92P	CHST5_uc002fei.3_Silent_p.P86P|CHST5_uc021tlk.1_Silent_p.P86P	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	86					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGAAGACGTCGGGGTGCTGGC	0.677												
SUPT6H	6830	broad.mit.edu	37	17	27010834	27010834	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr17:27010834G>A	uc010crt.3	+	18	2421	c.2229_splice	c.e18+1	p.K743_splice	SUPT6H_uc002hby.3_Splice_Site_p.K743_splice	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	743					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ATGTCATAAAGGTGAGGACAG	0.478												
DSG4	147409	broad.mit.edu	37	18	28968937	28968937	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr18:28968937C>T	uc002kwr.2	+	4	608	c.473C>T	c.(472-474)tCg>tTg	p.S158L	DSG4_uc002kwq.2_Missense_Mutation_p.S158L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	158	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S158L(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCAGTCTTTTCGCAAAGTGTA	0.413												
ZNF57	126295	broad.mit.edu	37	19	2918067	2918067	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:2918067A>G	uc002lwr.3	+	3	1596	c.1448A>G	c.(1447-1449)aAa>aGa	p.K483R	ZNF57_uc010xha.2_Missense_Mutation_p.K451R	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CAATGTGGAAAAACCTTCACT	0.448												
MUC16	94025	broad.mit.edu	37	19	9062081	9062081	+	Silent	SNP	G	G	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:9062081G>C	uc002mkp.3	-	2	25569	c.25365C>G	c.(25363-25365)tcC>tcG	p.S8455S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8457	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCCCTAGAGGATATCACTT	0.522												
FBXL12	54850	broad.mit.edu	37	19	9921682	9921682	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:9921682C>T	uc002mme.3	-	2	1113	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	FBXL12_uc002mmd.3_Missense_Mutation_p.G238R|FBXL12_uc002mmf.3_Missense_Mutation_p.G238R|FBXL12_uc002mmg.3_Missense_Mutation_p.G238R	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	291							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CACCCCAGCCCCTGCAGCTCA	0.612												
JAK3	3718	broad.mit.edu	37	19	17945947	17945947	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:17945947C>T	uc002nhn.4	-	14	2092	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.P664P	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	664	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""							
CD22	933	broad.mit.edu	37	19	35837570	35837570	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:35837570A>C	uc010edt.3	+	13	2598	c.2514A>C	c.(2512-2514)gaA>gaC	p.E838D	CD22_uc010edu.3_Missense_Mutation_p.E750D|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.E661D|CD22_uc010xst.2_Missense_Mutation_p.E666D|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	838					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGGCACAAGAAAATGTGGACT	0.552												
SIPA1L3	23094	broad.mit.edu	37	19	38572329	38572329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:38572329C>T	uc002ohk.3	+	2	633	c.124C>T	c.(124-126)Cag>Tag	p.Q42*		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	42					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATTCTGGGCCCAGAATGGCAG	0.706												
ZFP112	26974	broad.mit.edu	37	19	44891167	44891167	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:44891167C>T	uc010xxa.2	-	3	1304	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.V414I	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						ACTTGAAGAACGGAGCTTGAA	0.488												
CKM	1158	broad.mit.edu	37	19	45821144	45821144	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:45821144C>T	uc002pbd.3	-	2	460	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	96	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCCCCCGTGGCGATCCGAGAT	0.582												
ZNF805	390980	broad.mit.edu	37	19	57765629	57765629	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:57765629A>C	uc010ygt.2	+	3	1649	c.1442A>C	c.(1441-1443)aAg>aCg	p.K481T	ZNF805_uc010ygu.2_Missense_Mutation_p.K348T|ZNF805_uc021vcj.1_Missense_Mutation_p.K348T	NM_001023563	NP_001138550	Q5CZA5	ZN805_HUMAN	Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA.	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACTGGAGAGAAGCCCTATGAG	0.527												
C2orf70	339778	broad.mit.edu	37	2	26798883	26798883	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:26798883C>T	uc010eyn.3	+	1	188	c.188C>T	c.(187-189)cCc>cTc	p.P63L		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA.	63										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						AGCCACACTCCCTTCAGCCAA	0.637												
VAMP5	10791	broad.mit.edu	37	2	85818867	85818867	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:85818867G>A	uc002spu.1	+	1	106	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_006634	NP_006625	O95183	VAMP5_HUMAN	Homo sapiens vesicle-associated membrane protein 5 (myobrevin) (VAMP5), mRNA.	8	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						GAGTTGGAGCGGTGCCAGCAG	0.602												
SEMA4C	54910	broad.mit.edu	37	2	97533539	97533539	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:97533539G>A	uc002sxg.4	-						SEMA4C_uc002sxh.4_Missense_Mutation_p.P29S	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.						muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTCTTACGCGGCACAAGGTTC	0.642												
GGTLC1	92086	broad.mit.edu	37	20	23967182	23967182	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:23967182A>G	uc002wts.3	-	1	200	c.67T>C	c.(67-69)Tcc>Ccc	p.S23P	GGTLC1_uc002wtu.3_Missense_Mutation_p.S23P|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	23							gamma-glutamyltransferase activity	p.S23Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TTGTAGTAGGAGATCGGGTGA	0.632												
MATN4	8785	broad.mit.edu	37	20	43922452	43922452	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:43922452C>T	uc002xnn.2	-	9	1888	c.1701G>A	c.(1699-1701)acG>acA	p.T567T	MATN4_uc002xnp.2_Silent_p.T485T|MATN4_uc002xno.2_Silent_p.T526T	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	608						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CCAGGCGCGCCGTCAGCTGGG	0.687												
FAM65C	140876	broad.mit.edu	37	20	49232571	49232571	+	Missense_Mutation	SNP	G	G	A	rs147229572		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:49232571G>A	uc010zyt.2	-	3	567	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R102C|FAM65C_uc002xvn.1_Missense_Mutation_p.R102C	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	102								p.R102C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTTTGTGGCGTCCAGACAGG	0.542												
PMEPA1	56937	broad.mit.edu	37	20	56284593	56284595	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:56284593_56284595delCGG	uc002xyq.3	-	0	437_439	c.44_46delCCG	c.(43-48)gccggg>ggg	p.A15del	PMEPA1_uc002xyr.3_Intron|PMEPA1_uc002xys.3_Intron|PMEPA1_uc002xyt.3_Intron|AK056098_uc002xyu.1_5'Flank	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	15					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TTGGGCTgcccggcggcggcggc	0.734												
TAF4	6874	broad.mit.edu	37	20	60572701	60572706	+	In_Frame_Del	DEL	TTTGTG	TTTGTG	-			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:60572701_60572706delTTTGTG	uc002ybs.3	-	13	2990_2995	c.2990_2995delCACAAA	c.(2989-2997)gcacaaatg>gtg	p.997_999AQM>V		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	997					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.M999V(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGCTGTCTCATTTGTGCCAGTTCCTG	0.471												
KRTAP10-6	386674	broad.mit.edu	37	21	46011400	46011400	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr21:46011400G>A	uc002zfm.3	-	0	987	c.966C>T	c.(964-966)tcC>tcT	p.S322S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	322	29 X 5 AA repeats of C-C-X(3).					keratin filament		p.S322S(10)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGGCACCACAGGAGGGGACGG	0.692												
FYCO1	79443	broad.mit.edu	37	3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	rs140583635		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:45996750G>A	uc011bal.1	-	12	4047	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_uc003cpb.4_Missense_Mutation_p.A1312V	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	1312					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498												
PFKFB4	5210	broad.mit.edu	37	3	48563038	48563038	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:48563038C>T	uc003ctv.3	-	9	1069	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	PFKFB4_uc003ctx.3_Missense_Mutation_p.R308Q|PFKFB4_uc010hkb.3_Missense_Mutation_p.R344Q|PFKFB4_uc003ctw.3_Missense_Mutation_p.R160Q|PFKFB4_uc010hkc.3_Intron|PFKFB4_uc011bbm.2_Missense_Mutation_p.R340Q|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	351	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTCCTGGTCCCGCAGGGCGAA	0.562												
NISCH	11188	broad.mit.edu	37	3	52521957	52521957	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:52521957G>A	uc003ded.4	+	15	2583	c.2449G>A	c.(2449-2451)Gcc>Acc	p.A817T	NISCH_uc003dee.4_Missense_Mutation_p.A306T|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	817	Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCAGCACATGGCCATGCTGTG	0.622												
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:55733470_55733472delTGG	uc021wzo.1	-	14	2921_2923	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_In_Frame_Del_p.923_924HH>H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	927	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502												
ADCY5	111	broad.mit.edu	37	3	123046533	123046533	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:123046533C>T	uc003egh.2	-	6	1879	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	ADCY5_uc021xdd.1_Missense_Mutation_p.E277K|ADCY5_uc003egg.2_Missense_Mutation_p.E260K|ADCY5_uc003egi.1_Missense_Mutation_p.E186K	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	627					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	p.E627K(2)|p.G626G(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCGTTGCGCTCGCCCCCACAG	0.642												
RBP2	5948	broad.mit.edu	37	3	139195249	139195249	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:139195249T>C	uc003eth.3	-	0	104	c.53A>G	c.(52-54)gAg>gGg	p.E18G		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	18					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CATGTAGCCCTCAAAGTTTTC	0.562												
PSMD2	5708	broad.mit.edu	37	3	184021749	184021749	+	Silent	SNP	T	T	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:184021749T>C	uc003fnn.1	+	10	1371	c.1338T>C	c.(1336-1338)ctT>ctC	p.L446L	PSMD2_uc011brj.1_Silent_p.L287L|PSMD2_uc011brk.1_Silent_p.L316L	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	446					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GAGCTCTTCTTGCCTGTGGCA	0.512												
LRRC15	131578	broad.mit.edu	37	3	194080518	194080518	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:194080518G>A	uc003ftt.3	-	2	1398	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	LRRC15_uc003ftu.3_Missense_Mutation_p.R419W|LRRC15_uc021xiy.1_Missense_Mutation_p.R419W	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	419	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	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)		TCATACAGCCGCAGCTCACAC	0.577												
ADD1	118	broad.mit.edu	37	4	2930135	2930135	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:2930135G>A	uc003gfq.3	+	14	2380	c.2192G>A	c.(2191-2193)gGg>gAg	p.G731E	ADD1_uc003gfo.3_3'UTR|ADD1_uc003gfp.3_3'UTR|ADD1_uc003gfr.3_Missense_Mutation_p.G700E|ADD1_uc003gfs.3_3'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	700	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCGAGGAGGGGGCCGCCGCG	0.662												
RXFP1	59350	broad.mit.edu	37	4	159538309	159538309	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:159538309G>A	uc003ipz.3	+	8	970	c.707G>A	c.(706-708)cGt>cAt	p.R236H	RXFP1_uc010iqj.2_Missense_Mutation_p.R65H|RXFP1_uc010iqk.3_Missense_Mutation_p.R104H|RXFP1_uc011cja.2_Missense_Mutation_p.R155H|RXFP1_uc010iqo.3_Missense_Mutation_p.R236H|RXFP1_uc011cjb.2_Missense_Mutation_p.R182H|RXFP1_uc011cjc.2_Missense_Mutation_p.R155H|RXFP1_uc011cjd.2_Missense_Mutation_p.R155H|RXFP1_uc010iql.3_Missense_Mutation_p.R104H|RXFP1_uc011cje.2_Missense_Mutation_p.R263H|RXFP1_uc010iqm.3_Missense_Mutation_p.R203H|RXFP1_uc011cjf.2_Missense_Mutation_p.R106H|RXFP1_uc010iqn.3_Missense_Mutation_p.R182H	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	236						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GTCCTCACCCGTTTACCTGAT	0.363												
ODZ3	55714	broad.mit.edu	37	4	183713542	183713542	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:183713542G>A	uc003ivd.1	+	24	5792	c.5717G>A	c.(5716-5718)cGa>cAa	p.R1906Q		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1906					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGACCATCCGATCCATTGGC	0.542												
SLC6A19	340024	broad.mit.edu	37	5	1216784	1216784	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:1216784C>T	uc003jbw.4	+	6	1055	c.999C>T	c.(997-999)taC>taT	p.Y333Y		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	333					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACAGCGCTACGACGACTGCT	0.617												
UGT3A1	133688	broad.mit.edu	37	5	35955903	35955903	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:35955903C>T	uc003jjv.2	-	5	1332	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R380H|UGT3A1_uc011cor.2_Missense_Mutation_p.R346H	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	380						integral to membrane	glucuronosyltransferase activity	p.R380C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACACCATGACGGATGGCCTC	0.493												
HCN1	348980	broad.mit.edu	37	5	45262136	45262136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:45262136G>A	uc003jok.3	-	7	2585	c.2560C>T	c.(2560-2562)Cga>Tga	p.R854*		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	854						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGACTCCTCGGTTCGGGGGG	0.632												
HCN1	348980	broad.mit.edu	37	5	45353296	45353296	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:45353296C>T	uc003jok.3	-	4	1308	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	428						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R428H(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTTCTGACGCATATCAGC	0.338												
PTCD2	79810	broad.mit.edu	37	5	71634538	71634538	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:71634538C>T	uc003kcb.3	+	6	739	c.729C>T	c.(727-729)ttC>ttT	p.F243F	PTCD2_uc011csf.1_Silent_p.F53F|PTCD2_uc003kcc.3_Silent_p.F91F|PTCD2_uc011csg.2_Silent_p.F71F|PTCD2_uc011csh.2_Silent_p.F134F|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	243										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CATCCTGTTTCGCTGTGGCAT	0.423												
FCHO2	115548	broad.mit.edu	37	5	72370577	72370577	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:72370577C>T	uc003kcl.3	+	19	1704	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	FCHO2_uc011csl.2_Missense_Mutation_p.R497W|FCHO2_uc010izb.3_5'UTR|FCHO2_uc011csn.2_5'UTR	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	530								p.R530W(4)|p.R530R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AGGTGTGTCACGGGGTCCCAG	0.403												
ARRDC3	57561	broad.mit.edu	37	5	90672545	90672545	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:90672545G>A	uc003kjz.2	-	2	643	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.	135					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		ACCCAATAGCGCACACTGCCA	0.398												
SLIT3	6586	broad.mit.edu	37	5	168112721	168112721	+	Missense_Mutation	SNP	C	C	T	rs143177032		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:168112721C>T	uc010jjg.3	-	30	3967	c.3547G>A	c.(3547-3549)Gtc>Atc	p.V1183I	SLIT3_uc003mab.3_Missense_Mutation_p.V1176I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1176	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGGTCGGACCTTGGCGGAG	0.607												
OR12D2	26529	broad.mit.edu	37	6	29364964	29364964	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:29364964G>A	uc003nmf.4	+	0	549	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ATGACTTCTCGCTTGAACTTC	0.468												
HLA-G	3135	broad.mit.edu	37	6	29797340	29797340	+	Silent	SNP	G	G	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:29797340G>C	uc003nnw.2	+	4	943	c.765G>C	c.(763-765)gtG>gtC	p.V255V	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.V227V|HLA-G_uc003raj.3_Silent_p.V260V|HLA-G_uc003nnz.3_Silent_p.V163V|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	255	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGGAGCTCGTGGAGACCAGGC	0.632												
SKIV2L	6499	broad.mit.edu	37	6	31936703	31936703	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:31936703G>A	uc003nyn.1	+	25	3625	c.3236G>A	c.(3235-3237)cGg>cAg	p.R1079Q	SKIV2L_uc011dou.1_Missense_Mutation_p.R921Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R886Q|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1079						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGGCAGGGCGGGTGGCTTGT	0.592												
SRSF3	6428	broad.mit.edu	37	6	36564707	36564707	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:36564707C>T	uc003omj.3	+	1	339	c.168C>T	c.(166-168)ccC>ccT	p.P56P	SRSF3_uc003omk.3_Non-coding_Transcript|SRSF3_uc011dtp.1_Silent_p.P56P	NM_003017	NP_003008	P84103	SRSF3_HUMAN	Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA.	56	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						TTGAAGATCCCCGAGATGCAG	0.433												
HMGCLL1	54511	broad.mit.edu	37	6	55360237	55360237	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:55360237T>C	uc003pcn.3	-	7	1024	c.865A>G	c.(865-867)Aat>Gat	p.N289D	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.N259D|HMGCLL1_uc010jzx.3_Missense_Mutation_p.N160D|HMGCLL1_uc011dxc.2_Missense_Mutation_p.N227D|HMGCLL1_uc011dxd.2_Missense_Mutation_p.N156D	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	289							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTAAGGATATTTGCTAAGGCT	0.398												
TIAM2	26230	broad.mit.edu	37	6	155504465	155504465	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:155504465C>G	uc003qqb.3	+	15	4168	c.2895C>G	c.(2893-2895)agC>agG	p.S965R	TIAM2_uc003qqe.3_Missense_Mutation_p.S965R|TIAM2_uc010kjj.3_Missense_Mutation_p.S498R|TIAM2_uc003qqf.3_Missense_Mutation_p.S341R|TIAM2_uc011efl.1_Missense_Mutation_p.S301R|TIAM2_uc003qqg.3_Missense_Mutation_p.S277R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	965	PDZ.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGAGAAGAGCGTCGGACTCA	0.527												
AGMO	392636	broad.mit.edu	37	7	15425167	15425167	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:15425167G>A	uc003stb.1	-	9	1148	c.978C>T	c.(976-978)ccC>ccT	p.P326P		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	326					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						ATGATGAGAAGGGAACTTCTT	0.368												
PIK3CG	5294	broad.mit.edu	37	7	106508579	106508579	+	Silent	SNP	C	C	T	rs145944814		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:106508579C>T	uc003vdv.4	+	1	658	c.573C>T	c.(571-573)cgC>cgT	p.R191R	PIK3CG_uc003vdu.3_Silent_p.R191R|PIK3CG_uc003vdw.3_Silent_p.R191R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	191					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R191S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGGCCAGCCGCGACCCCAAGC	0.612												
CTTNBP2	83992	broad.mit.edu	37	7	117368153	117368153	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:117368153C>A	uc003vjf.3	-	16	4137	c.4045G>T	c.(4045-4047)Gtg>Ttg	p.V1349L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1349										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCACTGTCACTTGGGCATGC	0.493												
RNF133	168433	broad.mit.edu	37	7	122338662	122338662	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:122338662A>C	uc003vkj.1	-	0	547	c.311T>G	c.(310-312)cTt>cGt	p.L104R	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	104	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCGTTCAATAAGTGCAAGCCA	0.458												
GCC1	79571	broad.mit.edu	37	7	127222596	127222596	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:127222596G>A	uc003vma.3	-	1	2218	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	600						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCAGTTCCAAGTCCTTCTCGG	0.627												
KEL	3792	broad.mit.edu	37	7	142643377	142643377	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:142643377C>T	uc003wcb.3	-	10	1441	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	411					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCTCCTCCACGCACTTCATC	0.567												
ADAM7	8756	broad.mit.edu	37	8	24324411	24324411	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:24324411G>A	uc003xeb.3	+	5	602	c.489G>A	c.(487-489)ccG>ccA	p.P163P	ADAM7_uc003xea.1_Silent_p.P163P	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	163					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.V162A(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAGGGTGCCGTATGGTGCCA	0.388												
SLCO5A1	81796	broad.mit.edu	37	8	70667740	70667740	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:70667740C>T	uc003xyl.3	-	3	1884	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	SLCO5A1_uc010lzb.3_Missense_Mutation_p.D393N|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.D393N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D393N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	393						integral to membrane|plasma membrane	transporter activity	p.D393N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTCAGAACATCGTCATCACTA	0.363												
MTSS1	9788	broad.mit.edu	37	8	125568545	125568545	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:125568545G>A	uc003yrl.2	-	12	1878	c.1344C>T	c.(1342-1344)acC>acT	p.T448T	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Silent_p.T218T|MTSS1_uc011lio.1_Silent_p.T334T|MTSS1_uc003yri.2_Silent_p.T162T|MTSS1_uc003yrj.2_Silent_p.T419T|MTSS1_uc003yrk.2_Silent_p.T444T	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	444					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCCGCTGGCGGTAGTGGGTC	0.627												
CEL	1056	broad.mit.edu	37	9	135946656	135946656	+	Silent	SNP	G	G	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr9:135946656G>C	uc010naa.1	+	10	1792	c.1776G>C	c.(1774-1776)ggG>ggC	p.G592G		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	589	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GTGACTCCGGGGCCCCCCCCG	0.811												
RPL7A	6130	broad.mit.edu	37	9	136217156	136217156	+	Silent	SNP	C	C	T	rs142456845	by1000genomes	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr9:136217156C>T	uc004cde.1	+	4	507	c.477C>T	c.(475-477)caC>caT	p.H159H	MED22_uc004cdc.3_5'Flank|MED22_uc004cdd.3_5'Flank|SNORD36A_uc010naj.3_5'Flank|RPL7A_uc022boy.1_5'Flank|SNORD36C_uc010nak.3_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	Homo sapiens ribosomal protein L7a (RPL7A), mRNA.	159					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGATTGCACACGACGTGGATC	0.522