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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FANCA	2175	broad.mit.edu	37	16	89849491	89849491	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:89849491G>A	uc002fou.1	-	15	1532	c.1490C>T	c.(1489-1491)cCc>cTc	p.P497L	FANCA_uc010vpn.1_Missense_Mutation_p.P497L	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	497					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGAACCAGGGGTGGGTGGAG	0.587000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					29			7		0	0	0.001984	0	0
OR51F2	119694	broad.mit.edu	37	11	4842823	4842823	+	Missense_Mutation	SNP	C	T	T	rs113742153	byFrequency	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:4842823C>T	uc010qyn.2	+	0	208	c.208C>T	c.(208-210)Cat>Tat	p.H70Y		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGGAGCCTCCATAAGCCTAT	0.473000														72			49		0	0	0.003610	0	0
FASN	2194	broad.mit.edu	37	17	80043386	80043387	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:80043386_80043387GG>AA	uc002kdu.3	-	22	4210_4211	c.4093_4094CC>TT	c.(4093-4095)ccg>TTg	p.P1365L	FASN_uc002kdw.1_Missense_Mutation_p.P581L	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1365					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCCATACTGCGGCTCAGTGGAG	0.718000														7			5		0	0	0.004672	0	0
MRAP2	112609	broad.mit.edu	37	6	84799149	84799149	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:84799149T>G	uc003pkg.4	+	3	757	c.567T>G	c.(565-567)atT>atG	p.I189M	MRAP2_uc010kbo.3_Missense_Mutation_p.I103M	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	189					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AACCACCTATTGTTCTGGAAA	0.438000														25			16		0	0	0.004007	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724386	7724386	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:7724386G>A	uc001aoi.3	+	8	1986	c.1779G>A	c.(1777-1779)aaG>aaA	p.K593K		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACTCCAACAAGGACTACACGT	0.677000			T	WWTR1	epitheliod hemangioendothelioma									49			29		0	0	0.006320	0	0
TMEM209	84928	broad.mit.edu	37	7	129825207	129825207	+	Splice_Site	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:129825207C>T	uc003vpn.2	-	7	899	c.776_splice	c.e7-1	p.G259_splice	TMEM209_uc010lmc.1_Splice_Site_p.G259_splice	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	259						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					ATCTGGGCTCCCTACAATTGT	0.398000														107			47		0	0	0.003610	0	0
DHX37	57647	broad.mit.edu	37	12	125453415	125453415	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:125453415T>A	uc001ugy.3	-	8	1390	c.1291A>T	c.(1291-1293)Aag>Tag	p.K431*		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	431							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TGTGTTACCTTGATGACCGGC	0.627000														18			7		0	0	0.006214	0	0
SRRM2	23524	broad.mit.edu	37	16	2817118	2817118	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:2817118C>T	uc002crk.3	+	10	7138	c.6589C>T	c.(6589-6591)Ccg>Tcg	p.P2197S	SRRM2_uc002crj.1_Missense_Mutation_p.P2101S|SRRM2_uc002crl.1_Missense_Mutation_p.P2197S|SRRM2_uc010bsu.1_Missense_Mutation_p.P2101S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2197	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCGGCCTCCTCCGTCCATGTC	0.572000														39			27		0	0	0.006320	0	0
KCNB2	9312	broad.mit.edu	37	8	73848398	73848398	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:73848398G>A	uc003xzb.3	+	2	1396	c.808G>A	c.(808-810)Gat>Aat	p.D270N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	270					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAATGTCATTGATTTGCTGGC	0.468000														53			32		0	0	0.002836	0	0
EML5	161436	broad.mit.edu	37	14	89091324	89091324	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:89091324T>A	uc021ryf.1	-	34	5137	c.4888A>T	c.(4888-4890)Aag>Tag	p.K1630*	EML5_uc001xxf.3_Nonsense_Mutation_p.K417*|EML5_uc021ryg.1_Nonsense_Mutation_p.K1630*|EML5_uc001xxh.1_Nonsense_Mutation_p.K761*	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1622						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCCTTTCCTTTCCCCCAGTC	0.453000														21			19		0	0	0.001523	0	0
FAM170A	340069	broad.mit.edu	37	5	118970427	118970427	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:118970427G>A	uc003ksm.2	+	2	1194	c.984G>A	c.(982-984)agG>agA	p.R328R	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Silent_p.R328R|FAM170A_uc003kso.3_Silent_p.R281R	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	328						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CAAAGGACAGGAAGTGAGCAA	0.552000														39			25		0	0	0.004656	0	0
MCHR2	84539	broad.mit.edu	37	6	100395841	100395841	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:100395841C>T	uc003pqh.1	-	2	504	c.189G>A	c.(187-189)agG>agA	p.R63R	MCHR2_uc003pqi.1_Silent_p.R63R	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	63			R -> K (no changes in receptor binding or functional signaling).			integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGTTTTTTTCCTGGATCTGA	0.403000														30			7		0	0	0.004482	0	0
TMED10P1	286102	broad.mit.edu	37	8	146220662	146220662	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:146220662G>A	uc003zey.3	+	0	412	c.391G>A	c.(391-393)Gag>Aag	p.E131K	ZNF252P_uc003zew.4_Intron|ZNF252P_uc011llo.2_Intron					Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 (TMED10P1), non-coding RNA.																		GCATGGAGTGGAGGTGAAAAA	0.408000														59			21		0	0	0.003330	0	0
RTN3	10313	broad.mit.edu	37	11	63449115	63449115	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:63449115G>C	uc001nxq.3	+	0	194	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	RTN3_uc001nxp.3_Missense_Mutation_p.E3Q|RTN3_uc009yov.3_Missense_Mutation_p.E3Q|RTN3_uc010rmt.2_Non-coding_Transcript|RTN3_uc010rmu.2_Missense_Mutation_p.E3Q|RTN3_uc001nxm.3_Missense_Mutation_p.E3Q|RTN3_uc001nxn.3_Missense_Mutation_p.E3Q|RTN3_uc001nxo.3_Missense_Mutation_p.E3Q	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	3					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGCCATGGCGGAGCCGTCGGC	0.677000														34			13		0	0	0.002450	0	0
SLK	9748	broad.mit.edu	37	10	105762870	105762870	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:105762870C>T	uc001kxo.1	+	8	1968	c.1934C>T	c.(1933-1935)tCa>tTa	p.S645L	SLK_uc001kxp.1_Missense_Mutation_p.S645L	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	645	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATCACTGAGTCAAGTAGCACT	0.408000														19			7		0	0	0.001984	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43632897	43632897	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:43632897C>T	uc010ojx.2	-	6	861	c.712G>A	c.(712-714)Gag>Aag	p.E238K	EBNA1BP2_uc001cio.3_Missense_Mutation_p.E238K|EBNA1BP2_uc001cin.3_Missense_Mutation_p.E183K	NM_001159936	NP_006815	Q99848	EBP2_HUMAN	Homo sapiens EBNA1 binding protein 2 (EBNA1BP2), transcript variant 1, mRNA.	183					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAAGAACCTCCGTTTGCACC	0.423000														76			45		0	0	0.003610	0	0
STRC	161497	broad.mit.edu	37	15	43893647	43893648	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:43893647_43893648CC>TT	uc001zsf.3	-	23	4725_4726	c.4647_4648GG>AA	c.(4645-4650)gtggac>gtAAac	p.D1550N	STRC_uc010bdl.3_Missense_Mutation_p.D777N|STRC_uc001zse.3_Missense_Mutation_p.D68N	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1550					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACTCCCCAGTCCACTAGGATCA	0.574000														22			34		0	0	0.004672	0	0
MYLK3	91807	broad.mit.edu	37	16	46773972	46773972	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:46773972C>T	uc002eei.4	-	1	681	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	MYLK3_uc010vge.2_5'UTR|MYLK3_uc002eej.1_5'Flank	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	189					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CACTCACCTTCCCCAGGCTCC	0.498000														73			52		0	0	0.003610	0	0
MEGF10	84466	broad.mit.edu	37	5	126753435	126753435	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:126753435C>T	uc003kuh.4	+	10	1598	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	MEGF10_uc010jdc.1_Silent_p.I412I|MEGF10_uc010jdd.1_Silent_p.I412I|MEGF10_uc003kui.4_Silent_p.I412I	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	412	EGF-like 7.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GCCAGCAGATCTGCAGCTGCC	0.547000														45			21		0	0	0.001523	0	0
SELE	6401	broad.mit.edu	37	1	169697314	169697314	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:169697314G>A	uc001ggm.4	-	7	1321	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	388	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCCATAACGGAAACTGCCAG	0.517000														44			25		0	0	0.003954	0	0
OR6C6	283365	broad.mit.edu	37	12	55688891	55688891	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:55688891G>A	uc010sph.2	-	0	126	c.126C>T	c.(124-126)atC>atT	p.I42I		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGATGATGATGATTAAGTTCC	0.418000														24			13		0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82583262	82583262	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:82583262G>A	uc003uhx.2	-	4	7296	c.7007C>T	c.(7006-7008)tCc>tTc	p.S2336F	PCLO_uc003uhv.2_Missense_Mutation_p.S2336F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2267	Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACGGTTTCGGATAAGCTACT	0.423000														76			92		0	0	0.003610	0	0
TRHDE	29953	broad.mit.edu	37	12	72893288	72893289	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:72893288_72893289GG>AA	uc001sxa.3	+	5	1490_1491	c.1460_1461GG>AA	c.(1459-1461)agg>aAA	p.R487K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	487					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAAAAGCAGAGGTTTCTGACCG	0.441000														15			13		0	0	0.004672	0	0
FSIP2	401024	broad.mit.edu	37	2	186672022	186672022	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:186672022G>A	uc002upl.3	+	16	18256	c.18256G>A	c.(18256-18258)Gaa>Aaa	p.E6086K	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGCCAGCAAAGAATGTCAAAC	0.348000														26			12		0	0	0.001368	0	0
TMC5	79838	broad.mit.edu	37	16	19488761	19488761	+	Splice_Site	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:19488761G>A	uc002dgc.4	+	13	2840	c.2091_splice	c.e13-1	p.R697_splice	TMC5_uc010vaq.2_Splice_Site_p.R645_splice|TMC5_uc002dgb.4_Splice_Site_p.R697_splice|TMC5_uc010var.2_Splice_Site_p.R697_splice|TMC5_uc002dgd.1_Splice_Site_p.R451_splice|TMC5_uc002dge.4_Splice_Site_p.R451_splice|TMC5_uc002dgf.4_Splice_Site_p.R380_splice|TMC5_uc002dgg.4_Splice_Site_p.R338_splice	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	697						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTTCTGTTTAGAAACATCTTT	0.398000														42			24		0	0	0.003330	0	0
F10	2159	broad.mit.edu	37	13	113783888	113783888	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:113783888G>A	uc001vsx.3	+	1	250	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.E65K	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	65	Gla.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCTCATACGAAGAGGCCCG	0.572000														55			14		0	0	0.004007	0	0
FSTL4	23105	broad.mit.edu	37	5	132535090	132535090	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:132535090G>A	uc003kyn.1	-	15	2444	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S	FSTL4_uc003kym.1_Silent_p.S391S	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	742						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCAGTGAAGGAGCGCTGGA	0.577000														54			26		0	0	0.005443	0	0
MLL3	58508	broad.mit.edu	37	7	151970806	151970806	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:151970806G>A	uc003wla.3	-	6	1215	c.996C>T	c.(994-996)gaC>gaT	p.D332D		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	332					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAGGAGCTTGGTCAATGTGTT	0.383000			N		medulloblastoma									165			7		0	0	0.004482	0	0
C8orf74	203076	broad.mit.edu	37	8	10557906	10557906	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:10557906C>T	uc003wtd.1	+	3	839	c.810C>T	c.(808-810)acC>acT	p.T270T	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	270										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CCCCCATCACCAGCCACGCAG	0.582000														18			14		0	0	0.001855	0	0
SHE	126669	broad.mit.edu	37	1	154461714	154461714	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:154461714G>A	uc001ffb.3	-	2	861	c.837C>T	c.(835-837)tcC>tcT	p.S279S	SHE_uc001ffc.3_Non-coding_Transcript	NM_001010846	NP_001010846	Q5VZ18	SHE_HUMAN	Homo sapiens Src homology 2 domain containing E (SHE), mRNA.	279										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGAGGTCCTTGGAACTCCGTC	0.632000														49			29		0	0	0.005443	0	0
ZFP112	7771	broad.mit.edu	37	19	44832316	44832316	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:44832316C>T	uc010xwy.2	-	4	2181	c.2063G>A	c.(2062-2064)gGt>gAt	p.G688D	ZFP112_uc010ejj.3_Missense_Mutation_p.G671D|ZFP112_uc002ozc.4_Missense_Mutation_p.G665D|ZFP112_uc010xwz.2_Missense_Mutation_p.G670D	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	671					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						GAAGCCTTTACCACATTCTTC	0.448000														14			22		0	0	0.001523	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880262	42880262	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:42880262G>A	uc001chi.2	+	4	931	c.793G>A	c.(793-795)Gac>Aac	p.D265N		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	265	ATP-grasp.				protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding	p.D224H(1)|p.N264N(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTTATCATGGACGATGGCTC	0.502000														169			94		0	0	0.003610	0	0
BCAP31	10134	broad.mit.edu	37	X	152981107	152981107	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:152981107C>T	uc004fid.2	-	3	862	c.432G>A	c.(430-432)acG>acA	p.T144T	BCAP31_uc011myz.1_Silent_p.T77T|BCAP31_uc011mza.1_Silent_p.T77T|BCAP31_uc004fie.2_Silent_p.T77T	NM_001139457	NP_005736	P51572	BAP31_HUMAN	Homo sapiens B-cell receptor-associated protein 31 (BCAP31), transcript variant 1, mRNA.	77					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment membrane|cytosol|endoplasmic reticulum membrane|integral to plasma membrane	receptor binding	p.T77T(2)		endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCACCTTTTCCGTCACATCAT	0.527000														20			58		0	0	0.003610	0	0
FAM86C1	55199	broad.mit.edu	37	11	71510680	71510680	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:71510680G>A	uc001oqv.4	+	4	511	c.485G>A	c.(484-486)aGa>aAa	p.R162K	FAM86C1_uc009ysr.3_Missense_Mutation_p.R155K|FAM86C1_uc001oqw.4_Missense_Mutation_p.R128K|FAM86C1_uc009yss.3_Non-coding_Transcript|FAM86C1_uc010rqq.2_Non-coding_Transcript|BC073927_uc001oqx.1_Intron	NM_018172	NP_060642	Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member C1 (FAM86C1), transcript variant 1, mRNA.	162										lung(1)	1						AGCACTTGGAGATGGCAAAGC	0.478000														71			35		0	0	0.005524	0	0
FLNC	2318	broad.mit.edu	37	7	128486908	128486908	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:128486908A>C	uc003vnz.4	+	23	4446	c.4237A>C	c.(4237-4239)Act>Cct	p.T1413P	FLNC_uc003voa.4_Missense_Mutation_p.T1413P	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1413					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CATCCCCTTCACTCCTGGAGA	0.612000														73			30		0	0	0.002445	0	0
ATP2A2	488	broad.mit.edu	37	12	110765358	110765358	+	Splice_Site	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:110765358G>A	uc001tqk.4	+	8	1194	c.631_splice	c.e8-1	p.G211_splice	ATP2A2_uc001tql.4_Splice_Site_p.G211_splice|ATP2A2_uc021rdt.1_Splice_Site_p.G59_splice	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	211			G -> D (in DD; severe form).		ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCTGTCCTAGGGTACAAACAT	0.463000														141			66		0	0	0.003610	0	0
CCDC37	348807	broad.mit.edu	37	3	126137582	126137582	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:126137582G>A	uc010hsg.1	+	5	677	c.618G>A	c.(616-618)agG>agA	p.R206R	CCDC37_uc003eiu.1_Silent_p.R205R	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	205										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGTTCGTCAGGGAGAATGACT	0.667000														4			4		0	0	0.000602	0	0
PATL1	219988	broad.mit.edu	37	11	59420467	59420467	+	Silent	SNP	C	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:59420467C>A	uc001noe.4	-	9	1289	c.1146G>T	c.(1144-1146)gcG>gcT	p.A382A	PATL1_uc009yms.1_Silent_p.A352A|PATL1_uc010rkw.2_Silent_p.A87A	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	382	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTCTATCTCCCGCACCATTGA	0.438000														174			5		0.00198382	0.00260511	0.001984	1	0
GIGYF2	26058	broad.mit.edu	37	2	233680381	233680381	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:233680381G>A	uc002vtj.4	+	20	2472	c.2205G>A	c.(2203-2205)ctG>ctA	p.L735L	GIGYF2_uc010zmj.1_Silent_p.L714L|GIGYF2_uc002vtg.2_Silent_p.L708L|GIGYF2_uc002vti.4_Silent_p.L714L|GIGYF2_uc002vtk.4_Silent_p.L714L|GIGYF2_uc002vth.4_Silent_p.L708L|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Silent_p.L545L|GIGYF2_uc002vtq.4_Silent_p.L47L	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	714	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ATCTTCCTCTGGACACCACGA	0.488000														28			21		0	0	0.001882	0	0
ENPEP	2028	broad.mit.edu	37	4	111398146	111398146	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:111398146C>T	uc003iab.4	+	0	918	c.576C>T	c.(574-576)ttC>ttT	p.F192F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	192					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCATGGAGTTCGCCGGCTGGC	0.507000														44			39		0	0	0.004878	0	0
TYR	7299	broad.mit.edu	37	11	89028466	89028466	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:89028466C>T	uc001pcs.3	+	4	1604	c.1522C>T	c.(1522-1524)Cct>Tct	p.P508S		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	508					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AAAGCAGCTTCCTGAAGAAAA	0.532000														26			15		0	0	0.002780	0	0
COL14A1	7373	broad.mit.edu	37	8	121383403	121383403	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:121383403A>T	uc003yox.3	+	47	5589	c.5324A>T	c.(5323-5325)gAt>gTt	p.D1775V		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1775	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCCCATCCAGATCAGCCAGAG	0.522000														104			38		0	0	0.003610	0	0
HERC1	8925	broad.mit.edu	37	15	63935234	63935234	+	Silent	SNP	A	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:63935234A>T	uc002amp.3	-	58	11503	c.11355T>A	c.(11353-11355)gtT>gtA	p.V3785V		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3785					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						agcctatcacaacagtttgca	0.343000														8			5		0	0	0.000602	0	0
CENPE	1062	broad.mit.edu	37	4	104066293	104066293	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:104066293C>T	uc003hxb.1	-	31	4861	c.4771G>A	c.(4771-4773)Gaa>Aaa	p.E1591K	CENPE_uc003hxc.1_Missense_Mutation_p.E1566K	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1591					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTCTTTTTCCTTAATCATA	0.363000														38			19		0	0	0.006122	0	0
KCNA1	3736	broad.mit.edu	37	12	5021216	5021216	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:5021216G>A	uc001qnh.3	+	1	1777	c.672G>A	c.(670-672)gtG>gtA	p.V224V	KCNA1_uc021qts.1_Silent_p.V224V	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	224					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTTCATCGTGGAAACGCTGT	0.512000														33			19		0	0	0.006122	0	0
PC	5091	broad.mit.edu	37	11	66619376	66619376	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:66619376G>A	uc001ojn.1	-	13	1916	c.1867C>T	c.(1867-1869)Ccc>Tcc	p.P623S	PC_uc001ojo.1_Missense_Mutation_p.P623S|PC_uc001ojp.1_Missense_Mutation_p.P623S	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	623	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCCGCCAGGGGCACTCATAC	0.637000														21			24		0	0	0.003954	0	0
EPS15L1	58513	broad.mit.edu	37	19	16472729	16472729	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:16472729G>A	uc002ndx.3	-	22	2453	c.2447C>T	c.(2446-2448)cCa>cTa	p.P816L	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_3'UTR|EPS15L1_uc002ndz.1_Missense_Mutation_p.P816L|EPS15L1_uc010xpf.1_Missense_Mutation_p.P719L|EPS15L1_uc002nea.1_3'UTR|EPS15L1_uc010eah.1_3'UTR	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	816	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AGCCCCGAGTGGCTGGAATGG	0.517000														31			21		0	0	0.002780	0	0
SELRC1	65260	broad.mit.edu	37	1	53153451	53153451	+	Nonsense_Mutation	SNP	G	A	A	rs149085843		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:53153451G>A	uc001cui.2	-	2	677	c.637C>T	c.(637-639)Cga>Tga	p.R213*		NM_023077	NP_075565	Q96BR5	SELR1_HUMAN	Homo sapiens Sel1 repeat containing 1 (SELRC1), mRNA.	213							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						TGCTGGGCTCGATTTTTTAGC	0.532000														42			29		0	0	0.001786	0	0
OR52B4	143496	broad.mit.edu	37	11	4389346	4389346	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:4389346G>A	uc010qye.2	-	0	271	c.180C>T	c.(178-180)ccC>ccT	p.P60P		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E59K(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAGGTACATGGGTTCATGGA	0.517000														17			8		0	0	0.003080	0	0
C22orf23	84645	broad.mit.edu	37	22	38340481	38340481	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:38340481C>T	uc003auj.2	-	5	734	c.525G>A	c.(523-525)atG>atA	p.M175I	C22orf23_uc021wpl.1_Missense_Mutation_p.M154I	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA.	175								p.M175T(1)		endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CCAGGGCCTCCATGTCAGCCA	0.572000														50			28		0	0	0.005443	0	0
TMEM119	338773	broad.mit.edu	37	12	108986066	108986066	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:108986066C>T	uc001tng.3	-	1	257	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	TMEM119_uc021rdl.1_Missense_Mutation_p.A32T	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	32						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						AGGAACGTGGCCTTCAGGGGC	0.711000														9			5		0	0	0.003080	0	0
ME3	10873	broad.mit.edu	37	11	86159199	86159199	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:86159199G>A	uc001pbz.3	-	9	1484	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	ME3_uc001pca.3_Silent_p.A410A|ME3_uc009yvk.3_Silent_p.A410A	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	410					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TACCTATGATGGCTGTGGGCT	0.557000														37			26		0	0	0.004656	0	0
NPSR1	387129	broad.mit.edu	37	7	34867127	34867127	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:34867127G>T	uc003teh.1	+	4	721	c.593G>T	c.(592-594)tGg>tTg	p.W198L	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.W198L|NPSR1_uc010kwt.1_Missense_Mutation_p.W45L|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.W132L|NPSR1_uc003tei.1_Missense_Mutation_p.W198L|NPSR1_uc010kww.1_Missense_Mutation_p.W187L|NPSR1_uc011kar.1_Missense_Mutation_p.W132L|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	198						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GTGCAGTGCTGGGCCCTGTGG	0.537000														30			27		2.79863e-10	3.70382e-10	0.004656	1	0
DARC	2532	broad.mit.edu	37	1	159175964	159175964	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:159175964C>T	uc001ftp.4	+	0	916	c.741C>T	c.(739-741)atC>atT	p.I247I	DARC_uc001fto.3_Silent_p.I245I	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	245					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGATGAATATCCTGTGGGCCT	0.532000														77			33		0	0	0.002445	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954483	10954483	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:10954483G>A	uc001qyv.3	-	0	744	c.687C>T	c.(685-687)gcC>gcT	p.A229A		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	229					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						CTCTCACATGGGCTTCTGTGC	0.502000														7			6		0	0	0.001168	0	0
TREML2	79865	broad.mit.edu	37	6	41162267	41162267	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:41162267G>A	uc010jxm.1	-	2	860	c.681C>T	c.(679-681)tcC>tcT	p.S227S		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	227					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TAGTGGAGATGGATTCTGGGC	0.622000														26			9		0	0	0.006214	0	0
PLCE1	51196	broad.mit.edu	37	10	95791308	95791308	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:95791308C>T	uc001kjk.3	+	1	1139	c.505C>T	c.(505-507)Cag>Tag	p.Q169*	PLCE1_uc010qnx.2_Nonsense_Mutation_p.Q169*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	169					Ras protein signal transduction|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|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTAGGAAATCAGTCAGTGAT	0.428000														31			27		0	0	0.006320	0	0
SUGP2	10147	broad.mit.edu	37	19	19115220	19115220	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:19115220C>T	uc002nkz.1	-	6	2748	c.2728G>A	c.(2728-2730)Gac>Aac	p.D910N	SUGP2_uc002nkx.2_Missense_Mutation_p.D896N|SUGP2_uc002nla.1_Missense_Mutation_p.D896N|SUGP2_uc002nlb.2_Missense_Mutation_p.D896N|SUGP2_uc010xqk.1_Missense_Mutation_p.D665N	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	896					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						tcgtcctcgtcctcctcctcA	0.692000														23			20		0	0	0.001216	0	0
PPP6R3	55291	broad.mit.edu	37	11	68331819	68331819	+	Silent	SNP	T	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:68331819T>C	uc001onv.3	+	8	1161	c.894T>C	c.(892-894)gcT>gcC	p.A298A	PPP6R3_uc001onw.3_Silent_p.A298A|PPP6R3_uc001ony.4_Silent_p.A298A|PPP6R3_uc001onx.3_Silent_p.A298A|PPP6R3_uc009ysh.3_Silent_p.A298A|PPP6R3_uc001onu.3_Silent_p.A298A|PPP6R3_uc010rqc.2_Intron|PPP6R3_uc010rqd.2_Silent_p.A5A	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	298					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCCATTCAGCTTGTTCAGTAA	0.413000														66			59		0	0	0.003610	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469563	21469563	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:21469563G>A	uc001vyr.3	+	3	947	c.755G>A	c.(754-756)gGa>gAa	p.G252E	SLC39A2_uc001vys.3_Missense_Mutation_p.G153E	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	252						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GACTCTGAAGGAGGGCGGGGC	0.567000														80			36		0	0	0.006230	0	0
ADCY8	114	broad.mit.edu	37	8	131861869	131861869	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:131861869G>A	uc003ytd.4	-	9	2647	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	797					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCACCCAGGAAATTAATCA	0.453000										HNSCC(32;0.087)				32			11		0	0	0.001855	0	0
MRPS25	64432	broad.mit.edu	37	3	15106679	15106679	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:15106679G>A	uc003bzl.3	-	0	138	c.23C>T	c.(22-24)cCc>cTc	p.P8L	MRPS25_uc011avl.2_Missense_Mutation_p.P8L|MRPS25_uc011avm.1_Missense_Mutation_p.P8L	NM_022497	NP_071942	P82663	RT25_HUMAN	Homo sapiens mitochondrial ribosomal protein S25 (MRPS25), nuclear gene encoding mitochondrial protein, mRNA.	8					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						GCGGCGGATGGGGAAGCGGCC	0.652000														9			5		0	0	0.001168	0	0
IQSEC1	9922	broad.mit.edu	37	3	12953214	12953214	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:12953214G>A	uc003bxt.2	-	9	2382	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F	IQSEC1_uc003bxu.3_Silent_p.F669F|IQSEC1_uc011auw.1_Silent_p.F777F	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	791	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCTTCTTCTGGAAGATCTTGG	0.557000														31			25		0	0	0.002780	0	0
KY	339855	broad.mit.edu	37	3	134322982	134322982	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:134322982G>A	uc010hty.3	-	10	1487	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Silent_p.T454T	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	475						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCCCGTCGCTGGTGTGGATGA	0.627000														8			7		0	0	0.001984	0	0
SDHAP2	727956	broad.mit.edu	37	3	195410689	195410689	+	Missense_Mutation	SNP	C	T	T	rs6583275	by1000genomes	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:195410689C>T	uc003fuw.3	+	12	1780	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CTTTGAGGTGCACTGGAGGAA	0.567000														32			5		0	0	0.000602	0	0
MTA2	9219	broad.mit.edu	37	11	62367695	62367695	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:62367695G>A	uc001ntq.2	-	2	523	c.133C>T	c.(133-135)Ctt>Ttt	p.L45F	MTA2_uc010rlx.1_5'UTR	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	45	BAH.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						cgccggaaaagacagacaacc	0.448000														53			39		0	0	0.002522	0	0
CRTAC1	55118	broad.mit.edu	37	10	99696020	99696021	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:99696020_99696021GG>AA	uc001kou.2	-	2	683_684	c.327_328CC>TT	c.(325-330)gaccgg>gaTTgg	p.R110W	CRTAC1_uc001kov.3_Missense_Mutation_p.R110W|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	110						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTCCCCTGCCGGTCCCGCAGCG	0.619000														33			24		0	0	0.004672	0	0
F5	2153	broad.mit.edu	37	1	169511549	169511549	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:169511549G>A	uc001ggg.1	-	12	2924	c.2779C>T	c.(2779-2781)Cct>Tct	p.P927S		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	927	2 X 17 AA tandem repeats.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.P927S(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCACTAGGAGGGTCCTTCCAG	0.473000														63			29		0	0	0.001512	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599532	136599532	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:136599532C>T	uc003qgx.1	-	3	740	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	BCLAF1_uc003qgy.1_Missense_Mutation_p.E161K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E161K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E163K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	163					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GTTTGTTTTTCCTGAGACCCT	0.433000														66			18		0	0	0.007413	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781567	128781567	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:128781567C>T	uc001qet.3	+	1	713	c.399C>T	c.(397-399)ctC>ctT	p.L133L	KCNJ5_uc009zck.3_Silent_p.L133L|KCNJ5_uc001qew.3_Silent_p.L133L	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	133					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L133L(2)|p.L133I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TTGAAAACCTCAGTGGCTTCG	0.507000														53			41		0	0	0.003214	0	0
FAM91A1	157769	broad.mit.edu	37	8	124790913	124790913	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:124790913G>A	uc003yqv.3	+	5	511	c.450G>A	c.(448-450)agG>agA	p.R150R	FAM91A1_uc011lik.1_Silent_p.R150R|FAM91A1_uc011lil.2_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	150										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TCTTCAGAAGGAAAACAGCCC	0.393000														32			10		0	0	0.000978	0	0
MIA3	375056	broad.mit.edu	37	1	222791496	222791496	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:222791496G>A	uc001hnl.3	+	0	53	c.44G>A	c.(43-45)cGg>cAg	p.R15Q		NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	15					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTCGTGCTCCGGCTGCCCTGG	0.721000														28			39		0	0	0.003610	0	0
DIP2C	22982	broad.mit.edu	37	10	735477	735477	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:735477C>T	uc001ifp.3	-	0	132	c.42G>A	c.(40-42)gaG>gaA	p.E14E		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	14						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCGCCCGCACCTCCAGGGGCA	0.791000														6			3		0	0	0.000602	0	0
C10orf90	118611	broad.mit.edu	37	10	128114580	128114580	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:128114580G>A	uc010qum.2	-	8	2362	c.2332C>T	c.(2332-2334)Cgt>Tgt	p.R778C	C10orf90_uc001ljp.3_Missense_Mutation_p.R537C|C10orf90_uc001ljq.3_Missense_Mutation_p.R681C	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	Homo sapiens chromosome 10 open reading frame 90 (C10orf90), mRNA.	681										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACTTCGGCACGGAGTCTGTTA	0.413000														68			39		0	0	0.006999	0	0
FAM129A	116496	broad.mit.edu	37	1	184764806	184764806	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:184764806C>T	uc001gra.3	-	13	2286	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	698	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTGGCTCTTCCTGGGCGGGT	0.572000														30			20		0	0	0.007413	0	0
NCAPG2	54892	broad.mit.edu	37	7	158443603	158443604	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:158443603_158443604GT>AA	uc011kwe.1	-	23	3140_3141	c.2995_2996AC>TT	c.(2995-2997)aca>TTa	p.T999L	NCAPG2_uc010lqu.1_Intron|NCAPG2_uc003wnx.1_Missense_Mutation_p.T999L|NCAPG2_uc003wnv.1_Missense_Mutation_p.T999L|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Intron|NCAPG2_uc011kwd.1_Missense_Mutation_p.T442L	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	999					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AGGGGTGTCTGTGTGCCGAGAC	0.460000														54			55		0	0	0.004672	0	0
WDR33	55339	broad.mit.edu	37	2	128471308	128471308	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:128471308G>A	uc002tpg.2	-	17	3356	c.3157C>T	c.(3157-3159)Ccg>Tcg	p.P1053S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1053					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.P1053P(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGGAAACGGAGGCCCAGGG	0.662000														70			52		0	0	0.003610	0	0
SLC36A1	206358	broad.mit.edu	37	5	150853259	150853259	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:150853259C>T	uc003luc.3	+	7	966	c.749C>T	c.(748-750)cCc>cTc	p.P250L	SLC36A1_uc003lub.1_Missense_Mutation_p.P250L|SLC36A1_uc010jhw.1_Missense_Mutation_p.P250L	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	250					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	AGCCACCTCCCCTTGGTGGCC	0.453000														165			84		0	0	0.003610	0	0
KIAA0913	23053	broad.mit.edu	37	10	75553738	75553738	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:75553738C>T	uc001jvj.3	+	11	2816	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	KIAA0913_uc001jve.3_Missense_Mutation_p.A854V|KIAA0913_uc009xrl.3_Missense_Mutation_p.A854V|KIAA0913_uc001jvf.3_Missense_Mutation_p.A854V|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.A277V|KIAA0913_uc010qkr.2_Missense_Mutation_p.A277V	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	854							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CACAACCTGGCCTTCCGAGTT	0.572000														16			10		0	0	0.000673	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011519	160011519	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:160011519G>A	uc001fuw.2	-	1	1044	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	268						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCGAAGAGGGAGATCTTTCA	0.527000														55			31		0	0	0.001786	0	0
MACF1	23499	broad.mit.edu	37	1	39785394	39785394	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:39785394C>T	uc021olt.1	+	29	4071	c.4019C>T	c.(4018-4020)tCc>tTc	p.S1340F	MACF1_uc021ols.1_Missense_Mutation_p.S1340F|MACF1_uc001cdc.2_Missense_Mutation_p.S1340F|MACF1_uc001cda.1_Missense_Mutation_p.S1248F|MACF1_uc009vvq.1_Missense_Mutation_p.S397F|MACF1_uc001cdb.1_Missense_Mutation_p.S427F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1340					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	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)			CAAAAATTTTCCCAGCAGTAC	0.373000														16			9		0	0	0.006214	0	0
MUC5B	727897	broad.mit.edu	37	11	1268818	1268818	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:1268818G>A	uc001lta.3	+	30	10767	c.10708G>A	c.(10708-10710)Ggc>Agc	p.G3570S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3570	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	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)		GGTGACCACGGGCTGTGAGCC	0.662000														29			29		0	0	0.005524	0	0
GDF5	8200	broad.mit.edu	37	20	34022117	34022117	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:34022117C>T	uc010gfc.1	-	1	1337	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	GDF5OS_uc002xcj.3_Silent_p.I176I|GDF5_uc002xck.1_Missense_Mutation_p.D366N	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	366					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ACGGTCTTATCGTCCTGGCCA	0.607000														100			70		0	0	0.003610	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423361	107423361	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:107423361C>T	uc002tdq.3	-	5	1482	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	ST6GAL2_uc002tdr.3_Missense_Mutation_p.E455K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	455					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.E455K(4)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GGGATATATTCATACACGTGC	0.502000														28			15		0	0	0.003163	0	0
NPHS1	4868	broad.mit.edu	37	19	36333451	36333451	+	Splice_Site	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:36333451C>T	uc002oby.3	-	18	2491	c.2335_splice	c.e18-1	p.G779_splice		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	779	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCATCTTCTCCCTGGAGGCC	0.577000														43			27		0	0	0.006320	0	0
DMP1	1758	broad.mit.edu	37	4	88584097	88584097	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:88584097G>A	uc003hqv.3	+	5	1271	c.1167G>A	c.(1165-1167)tcG>tcA	p.S389S	DMP1_uc003hqw.3_Silent_p.S373S	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	389					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGGACAGCTCGCACACACTCT	0.547000														90			58		0	0	0.003610	0	0
SLMAP	7871	broad.mit.edu	37	3	57898318	57898318	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:57898318G>A	uc003dje.1	+	17	2064	c.1859G>A	c.(1858-1860)cGg>cAg	p.R620Q	SLMAP_uc003djd.1_Missense_Mutation_p.R603Q|SLMAP_uc003djf.1_Missense_Mutation_p.R582Q|SLMAP_uc003djg.1_Missense_Mutation_p.R214Q|SLMAP_uc011bez.1_Missense_Mutation_p.R88Q|SLMAP_uc011bfa.1_Missense_Mutation_p.R154Q|SLMAP_uc003djh.3_Missense_Mutation_p.R113Q|SLMAP_uc003dji.1_Missense_Mutation_p.R154Q|SLMAP_uc011bfb.1_Missense_Mutation_p.R154Q|SLMAP_uc011bfc.1_Missense_Mutation_p.R113Q	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	620					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAGCGGTGGCGGAAAGCAGCG	0.468000														38			28		0	0	0.006320	0	0
MLIP	90523	broad.mit.edu	37	6	54025189	54025189	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:54025189G>A	uc011dxa.2	+	5	2347	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K	MLIP_uc003pcf.2_Missense_Mutation_p.E761K|MLIP_uc003pcg.4_Missense_Mutation_p.E237K|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	237						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGCCAAGACTGAAAGTGTCTC	0.393000														5			3		0	0	0.004672	0	0
ODZ3	55714	broad.mit.edu	37	4	183714222	183714222	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:183714222G>A	uc003ivd.1	+	24	6472	c.6397G>A	c.(6397-6399)Gat>Aat	p.D2133N		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2133					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)		TTATGAATATGATGTTGATGG	0.398000														54			21		0	0	0.002299	0	0
GNA15	2769	broad.mit.edu	37	19	3150270	3150270	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:3150270G>A	uc002lxf.2	+	2	730	c.472G>A	c.(472-474)Gat>Aat	p.D158N	GNA15_uc010xhf.1_Missense_Mutation_p.D158N	NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	158					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CCACCTGCTCGATTCAGCCGT	0.657000														70			37		0	0	0.005524	0	0
PROM2	150696	broad.mit.edu	37	2	95940436	95940436	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:95940436C>T	uc002suk.3	+	0	236	c.103C>T	c.(103-105)Ccg>Tcg	p.P35S	PROM2_uc002suh.2_Missense_Mutation_p.P35S|PROM2_uc002sui.3_Missense_Mutation_p.P35S|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	35						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GTTCCTTGGCCCGGCAGAGCA	0.687000														51			34		0	0	0.002836	0	0
USH2A	7399	broad.mit.edu	37	1	215844496	215844496	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:215844496G>A	uc001hku.1	-	63	14338	c.13951C>T	c.(13951-13953)Cca>Tca	p.P4651S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4651	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAAACAGTTGGCTGGAATCCT	0.453000										HNSCC(13;0.011)				62			25		0	0	0.005443	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204418340	204418340	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:204418340G>A	uc001haw.3	-	14	2798	c.2319C>T	c.(2317-2319)ttC>ttT	p.F773F	PIK3C2B_uc010pqv.2_Silent_p.F773F	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	773					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGGCTGGTGGAAATTAGGTG	0.547000														17			8		0	0	0.004482	0	0
KCNK1	3775	broad.mit.edu	37	1	233802581	233802581	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:233802581C>T	uc010pxo.1	+	1	764	c.596C>T	c.(595-597)cCg>cTg	p.P199L		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	199						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TTCTTCATCCCGGCCGCTGTC	0.527000														41			39		0	0	0.003610	0	0
LIM2	3982	broad.mit.edu	37	19	51890426	51890426	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:51890426C>T	uc002pwl.2	-	1	316	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	LIM2_uc002pwm.2_Intron	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		ctctttgagccgcagagttct	0.622000														20			16		0	0	0.004007	0	0
UCP3	7352	broad.mit.edu	37	11	73716889	73716889	+	Nonsense_Mutation	SNP	G	A	A	rs104894319	byFrequency	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:73716889G>A	uc001our.3	-	3	782	c.427C>T	c.(427-429)Cga>Tga	p.R143*	UCP3_uc001ous.2_Nonsense_Mutation_p.R143*	NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	143					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GCCTGAAATCGGACCTTCACC	0.612000														24			19		0	0	0.006122	0	0
ZNF217	7764	broad.mit.edu	37	20	52192399	52192399	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:52192399G>A	uc002xwq.4	-	2	3246	c.2904C>T	c.(2902-2904)ccC>ccT	p.P968P	ZNF217_uc010gij.1_Silent_p.P960P	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	968					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ACCTTGGTTTGGGAGGCAGCG	0.537000														46			22		0	0	0.001882	0	0
CACNA1C	775	broad.mit.edu	37	12	2719802	2719802	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:2719802C>T	uc009zdu.1	+	28	4027	c.3714C>T	c.(3712-3714)tcC>tcT	p.S1238S	CACNA1C_uc001qkc.2_Silent_p.S1218S|CACNA1C_uc001qjz.2_Silent_p.S1218S|CACNA1C_uc001qkd.2_Silent_p.S1218S|CACNA1C_uc001qke.2_Silent_p.S1218S|CACNA1C_uc001qkf.2_Silent_p.S1218S|CACNA1C_uc009zdw.1_Silent_p.S1218S|CACNA1C_uc001qkg.2_Silent_p.S1218S|CACNA1C_uc001qkh.2_Silent_p.S1218S|CACNA1C_uc001qkl.2_Silent_p.S1238S|CACNA1C_uc001qkj.2_Silent_p.S1218S|CACNA1C_uc001qkk.2_Silent_p.S1218S|CACNA1C_uc001qkn.2_Silent_p.S1218S|CACNA1C_uc001qkm.2_Silent_p.S1218S|CACNA1C_uc001qko.2_Silent_p.S1238S|CACNA1C_uc001qkp.2_Silent_p.S1218S|CACNA1C_uc001qkq.2_Silent_p.S1218S|CACNA1C_uc001qku.2_Silent_p.S1218S|CACNA1C_uc001qkr.2_Silent_p.S1218S|CACNA1C_uc001qks.2_Silent_p.S1218S|CACNA1C_uc001qkt.2_Silent_p.S1218S|CACNA1C_uc009zdv.1_Silent_p.S1215S|CACNA1C_uc001qkb.2_Silent_p.S1218S|CACNA1C_uc001qka.1_Silent_p.S753S|CACNA1C_uc001qki.1_Silent_p.S954S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1238					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGGTCAACTCCACCTACTTCG	0.592000														30			22		0	0	0.001882	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1967792	1967792	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:1967792G>A	uc021qsx.1	-	19	2190	c.1959C>T	c.(1957-1959)tcC>tcT	p.S653S	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.S517S	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	653						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CGTGGCCCCGGGACAGCACCA	0.587000														16			22		0	0	0.003954	0	0
ATP9A	10079	broad.mit.edu	37	20	50310600	50310600	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:50310600C>T	uc002xwg.1	-	6	589	c.589G>A	c.(589-591)Gac>Aac	p.D197N	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	197					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.T196T(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGCTTCCAGTCCGTCTCCCCA	0.637000														43			33		0	0	0.004289	0	0
OR5R1	219479	broad.mit.edu	37	11	56184738	56184738	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:56184738T>A	uc010rji.2	-	0	971	c.971A>T	c.(970-972)tAt>tTt	p.Y324F	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GCTTGTTTAATAAAGTTTTCT	0.294000														5			4		0	0	0.000248	0	0
EVC	2121	broad.mit.edu	37	4	5798917	5798917	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:5798917C>T	uc003gil.1	+	13	2239	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	685					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGGGGTCCTCCCAGTGCCTGG	0.677000														16			8		0	0	0.004482	0	0
IL1B	3553	broad.mit.edu	37	2	113591100	113591100	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:113591100C>T	uc002tii.1	-	3	239	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	IL1B_uc002tih.1_Missense_Mutation_p.R20Q	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	51					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	p.R51Q(2)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GTCGGAGATTCGTAGCTGGAT	0.627000														70			44		0	0	0.003214	0	0
CCBE1	147372	broad.mit.edu	37	18	57115233	57115233	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:57115233C>A	uc002lib.3	-	6	827	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	CCBE1_uc010dpq.3_Silent_p.L28L|CCBE1_uc002lia.3_Missense_Mutation_p.G106W	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	253	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CCCTGGCCCCCAGGCAGGCCA	0.587000														64			47		8.72198e-27	1.16522e-26	0.003610	1	0
GPR83	10888	broad.mit.edu	37	11	94113452	94113452	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:94113452G>A	uc001pet.2	-	3	1307	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	379						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGAAGGAAGGAACTGGGGAG	0.562000														71			35		0	0	0.005524	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130797421	130797421	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:130797421G>A	uc003kvn.2	-	18	3047	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F	RAPGEF6_uc003kvp.2_Silent_p.F997F|RAPGEF6_uc003kvo.2_Silent_p.F952F|RAPGEF6_uc010jdi.2_Silent_p.F947F|RAPGEF6_uc010jdj.2_Silent_p.F947F|RAPGEF6_uc003kvq.3_Silent_p.F664F|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Silent_p.F947F	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	947	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ACATGGAATTGAAGTTCTTAC	0.313000														18			9		0	0	0.000673	0	0
HPD	3242	broad.mit.edu	37	12	122295239	122295239	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:122295239C>T	uc001ubj.3	-	3	233	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	HPD_uc001ubk.3_Missense_Mutation_p.G26R	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	65					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CTCACCTTCCCTTGTTTGATT	0.542000														69			34		0	0	0.004289	0	0
ADAR	103	broad.mit.edu	37	1	154574656	154574656	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:154574656C>T	uc001ffh.3	-	1	704	c.462G>A	c.(460-462)aaG>aaA	p.K154K	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Silent_p.K154K|ADAR_uc001ffi.3_Silent_p.K154K|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	154					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTGTGGTGGCCTTCCCTTCCC	0.463000														56			45		0	0	0.002852	0	0
C4BPB	725	broad.mit.edu	37	1	207265145	207265145	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:207265145C>A	uc009xcd.3	+	2	679	c.359C>A	c.(358-360)cCc>cAc	p.P120H	C4BPB_uc001hfi.3_Missense_Mutation_p.P129H|C4BPB_uc001hfj.3_Missense_Mutation_p.P130H|C4BPB_uc001hfl.3_Missense_Mutation_p.P130H|C4BPB_uc001hfk.3_Missense_Mutation_p.P129H|C4BPB_uc001hfm.3_Missense_Mutation_p.P130H|C4BPB_uc010pse.1_Missense_Mutation_p.P120H	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	130	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						TGGGCACCTCCCTTTCCCATC	0.453000														26			18		1.33834e-09	1.76569e-09	0.007413	1	0
TAGAP	117289	broad.mit.edu	37	6	159457989	159457989	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:159457989C>T	uc003qrz.3	-	9	1398	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	TAGAP_uc011eft.2_Missense_Mutation_p.E293K|TAGAP_uc003qsa.3_Missense_Mutation_p.E178K	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	356					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACAATGGGCTCTGGGCTGACC	0.647000														48			25		0	0	0.004656	0	0
EFEMP1	2202	broad.mit.edu	37	2	56149558	56149558	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:56149558G>A	uc002rzi.3	-	2	519	c.18C>T	c.(16-18)ttC>ttT	p.F6F	EFEMP1_uc002rzj.3_Silent_p.F6F|EFEMP1_uc010ypc.2_5'UTR	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	6					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	p.L5I(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCATAGTTAGGAAAAGGGCTT	0.428000														58			43		0	0	0.002522	0	0
H2AFY	9555	broad.mit.edu	37	5	134705283	134705284	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:134705283_134705284CC>TT	uc003lam.1	-	3	499_500	c.289_290GG>AA	c.(289-291)gga>AAa	p.G97K	H2AFY_uc003lao.1_Missense_Mutation_p.G97K|H2AFY_uc003lan.1_Missense_Mutation_p.G97K|H2AFY_uc011cxz.1_Intron|H2AFY_uc003las.1_Missense_Mutation_p.G97K|H2AFY_uc003lat.1_Missense_Mutation_p.G97K	NM_138610	NP_613258	O75367	H2AY_HUMAN	Homo sapiens H2A histone family, member Y (H2AFY), transcript variant 3, mRNA.	97	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	p.G97fs*4(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATGGTGACTCCTTTTAGCAGC	0.515000														46			33		0	0	0.004672	0	0
SBNO1	55206	broad.mit.edu	37	12	123821031	123821032	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:123821031_123821032GG>AA	uc010tap.2	-	4	658_659	c.658_659CC>TT	c.(658-660)cct>TTt	p.P220F	SBNO1_uc010tao.2_Missense_Mutation_p.P219F|SBNO1_uc010taq.2_Intron|SBNO1_uc001ueu.2_Missense_Mutation_p.P219F|SBNO1_uc001uet.2_Missense_Mutation_p.P220F|SBNO1_uc001uev.2_Missense_Mutation_p.P218F|SBNO1_uc009zxy.1_Missense_Mutation_p.P185F	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	220							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ttttACAACAGGAACCTTCTGC	0.421000														13			9		0	0	0.004672	0	0
PDHA2	5161	broad.mit.edu	37	4	96761447	96761447	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:96761447C>T	uc003htr.4	+	0	209	c.146C>T	c.(145-147)cCt>cTt	p.P49L		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	49					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.P48L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GAGGGTCCCCCTGTCACTACA	0.478000														18			17		0	0	0.006122	0	0
SLC7A2	6542	broad.mit.edu	37	8	17419559	17419559	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:17419559C>T	uc011kye.2	+	9	1779	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SLC7A2_uc011kyc.2_Silent_p.F537F|SLC7A2_uc011kyd.2_Silent_p.F576F	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	537					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGTTCTCTTCGTTGCCATCG	0.512000														43			22		0	0	0.001523	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105950416	105950416	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:105950416C>T	uc001pjc.1	+	1	552	c.406C>T	c.(406-408)Cca>Tca	p.P136S	KBTBD3_uc001pja.3_5'Flank|KBTBD3_uc001pjb.3_5'Flank|KBTBD3_uc009yxm.3_5'Flank|AASDHPPT_uc010rvn.1_Non-coding_Transcript	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT), mRNA.	136				PGRGSI -> FQVVVQF (in Ref. 4; AAG49439).	macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		GACTAGTTTTCCAGGTAACGT	0.403000														44			13		0	0	0.001855	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111038	7111038	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:7111038G>A	uc001mfc.2	+	0	874	c.687G>A	c.(685-687)cgG>cgA	p.R229R		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	229	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding	p.R229Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCGAACCCCGGGGTTTTGCCC	0.697000														15			9		0	0	0.004482	0	0
PPP3CB	5532	broad.mit.edu	37	10	75204540	75204540	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:75204540G>A	uc001juf.3	-	11	1447	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S	PPP3CB_uc001jue.3_Missense_Mutation_p.P437S|PPP3CB_uc001jug.3_Missense_Mutation_p.P438S|PPP3CB_uc001juh.2_Missense_Mutation_p.P352S|PPP3CB_uc001jui.2_Missense_Mutation_p.P455S|PPP3CB_uc010qkj.2_Missense_Mutation_p.P65S	NM_001142353	NP_001135825	P16298	PP2BB_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, beta isozyme (PPP3CB), transcript variant 1, mRNA.	437										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					ATCCCTGTGGGAGTCAGGCCC	0.463000														16			14		0	0	0.004007	0	0
TM7SF2	7108	broad.mit.edu	37	11	64882836	64882836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:64882836C>T	uc001ocv.3	+	5	1603	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	TM7SF2_uc001oct.3_Nonsense_Mutation_p.R315*|TM7SF2_uc010rny.2_Nonsense_Mutation_p.R199*|TM7SF2_uc001ocu.3_Intron|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	315					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAACACTTTCCGAAAGAATCC	0.567000														86			37		0	0	0.006230	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456594	5456594	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:5456594C>T	uc002mca.4	+	0	1169	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	364						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCTTTGACTCCACCACCTACA	0.652000														38			36		0	0	0.004289	0	0
NUP98	4928	broad.mit.edu	37	11	3723826	3723826	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:3723826G>A	uc001lyh.3	-	22	3800	c.3379C>T	c.(3379-3381)Cgt>Tgt	p.R1127C	NUP98_uc001lyi.3_Missense_Mutation_p.R1127C|NUP98_uc001lyg.3_Intron	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1144					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAACCAACACGAAATGAGCGT	0.483000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									28			26		0	0	0.003954	0	0
ADAP2	55803	broad.mit.edu	37	17	29283435	29283435	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:29283435G>A	uc010csk.3	+	9	1356	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L	ADAP2_uc002hfy.3_Silent_p.L352L|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Silent_p.L353L	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	353	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGGAATGGCTGGAAAGTTTGC	0.567000														34			20		0	0	0.003330	0	0
TRPC7	57113	broad.mit.edu	37	5	135692623	135692623	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:135692623G>A	uc003lbn.2	-	1	675	c.453C>T	c.(451-453)ttC>ttT	p.F151F	TRPC7_uc010jef.2_Silent_p.F142F|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.F151F|TRPC7_uc010jei.2_Silent_p.F151F	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	151					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTAGGCATAGAAGTCGTCGT	0.652000														90			57		0	0	0.003610	0	0
COL4A4	1286	broad.mit.edu	37	2	227963446	227963446	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:227963446G>A	uc021vxr.1	-	17	1269	c.1168C>T	c.(1168-1170)Cca>Tca	p.P390S	COL4A4_uc021vxs.1_Missense_Mutation_p.P390S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	390	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAGAGACCTGGGGGACCAGGT	0.562000														29			24		0	0	0.006320	0	0
PEG3	5178	broad.mit.edu	37	19	57327202	57327202	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:57327202C>T	uc002qnu.2	-	6	2959	c.2608G>A	c.(2608-2610)Gat>Aat	p.D870N	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D841N|PEG3_uc002qnv.2_Missense_Mutation_p.D870N|PEG3_uc002qnw.2_Missense_Mutation_p.D746N|PEG3_uc002qnx.2_Missense_Mutation_p.D744N|PEG3_uc010etr.2_Missense_Mutation_p.D870N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	870					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGTCGCTTATCATTAAGGTCT	0.433000														49			15		0	0	0.002450	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228193	142228193	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:142228193G>A	uc003ywd.1	-	3	1701	c.1393C>T	c.(1393-1395)Ctc>Ttc	p.L465F	SLC45A4_uc003ywc.1_Missense_Mutation_p.L465F|SLC45A4_uc010meq.1_Missense_Mutation_p.L463F	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	516					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGTGAGGAGGTGGCAGAGG	0.642000														30			31		0	0	0.003755	0	0
CTNND2	1501	broad.mit.edu	37	5	11364995	11364995	+	Silent	SNP	G	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:11364995G>T	uc003jfa.1	-	7	1330	c.1185C>A	c.(1183-1185)tcC>tcA	p.S395S	CTNND2_uc010itt.2_Silent_p.S304S|CTNND2_uc011cmy.1_Silent_p.S58S|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	395					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATGAGGCTCGGGAACCAGCTG	0.488000														54			17		4.14922e-12	5.50844e-12	0.004007	1	0
PAN2	9924	broad.mit.edu	37	12	56716906	56716906	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:56716906C>T	uc001skx.3	-	16	2822	c.2445G>A	c.(2443-2445)atG>atA	p.M815I	PAN2_uc001skw.3_5'UTR|PAN2_uc001sky.3_Missense_Mutation_p.M811I|PAN2_uc001skz.3_Missense_Mutation_p.M814I	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	815					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGTCATCTTCATGCGAATGG	0.488000														84			58		0	0	0.003610	0	0
PCK1	5105	broad.mit.edu	37	20	56137861	56137861	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:56137861C>T	uc002xyn.4	+	3	679	c.516C>T	c.(514-516)atC>atT	p.I172I	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	172					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GCATGCGGATCATGACGCGGA	0.587000														28			22		0	0	0.002299	0	0
KATNAL2	83473	broad.mit.edu	37	18	44595631	44595631	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:44595631G>A	uc002lco.3	+	8	844	c.650G>A	c.(649-651)gGa>gAa	p.G217E	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	289						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CCCTGGAAAGGACTACTGCTG	0.463000														55			25		0	0	0.007291	0	0
RIOK1	83732	broad.mit.edu	37	6	7393483	7393483	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:7393483G>A	uc003mxn.3	+	1	397	c.223G>A	c.(223-225)Gga>Aga	p.G75R	RIOK1_uc003mxm.1_5'UTR	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	75							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CTGGGATGAAGGAGTTGGAAA	0.438000														38			33		0	0	0.003271	0	0
ITGA7	3679	broad.mit.edu	37	12	56094719	56094719	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:56094719G>C	uc001shh.3	-	3	854	c.634C>G	c.(634-636)Ctc>Gtc	p.L212V	ITGA7_uc001shg.3_Missense_Mutation_p.L212V|ITGA7_uc010sps.2_Missense_Mutation_p.L115V|ITGA7_uc009znx.3_Missense_Mutation_p.L99V	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	212					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCAAAGAGGAGGTAGTGGCTA	0.572000														27			20		0	0	0.001216	0	0
SAMM50	25813	broad.mit.edu	37	22	44372662	44372662	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:44372662C>T	uc003bej.3	+	8	1007	c.810C>T	c.(808-810)tcC>tcT	p.S270S	SAMM50_uc011aqd.2_Silent_p.S60S|SAMM50_uc003bek.3_Silent_p.S75S	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA.	270					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GGAATTCTTCCATCTTACCAA	0.438000														29			10		0	0	0.002450	0	0
C11orf2	738	broad.mit.edu	37	11	64875963	64875963	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:64875963C>T	uc001ocr.1	+	4	1060	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	C11orf2_uc001ocs.1_Silent_p.F216F	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	340					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						TGGCGGCCTTCGCCCGGCAGC	0.716000														22			23		0	0	0.002299	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438346	204438346	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:204438346G>A	uc001haw.3	-	2	1064	c.585C>T	c.(583-585)gtC>gtT	p.V195V	PIK3C2B_uc010pqv.2_Silent_p.V195V|PIK3C2B_uc001hax.1_Silent_p.V195V|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	195	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCAATTGTTCGACCAAAGAGA	0.577000														167			131		0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					37			33		0	0	0.002445	0	0
PIH1D1	55011	broad.mit.edu	37	19	49950644	49950644	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:49950644G>A	uc002pns.2	-	5	846	c.562C>T	c.(562-564)Cag>Tag	p.Q188*		NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	Homo sapiens PIH1 domain containing 1 (PIH1D1), mRNA.	188					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CCCAGCTCCTGGATCCGAGGA	0.627000														47			25		0	0	0.004656	0	0
BACE2	25825	broad.mit.edu	37	21	42613773	42613773	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:42613773G>A	uc002yyw.3	+	3	1109	c.646G>A	c.(646-648)Gac>Aac	p.D216N	BACE2_uc002yyx.3_Missense_Mutation_p.D216N|BACE2_uc002yyy.3_Missense_Mutation_p.D216N	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	216					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GACCTTCTTCGACTCCCTGGT	0.577000														90			62		0	0	0.003610	0	0
ALDH7A1	501	broad.mit.edu	37	5	125896802	125896802	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:125896802C>T	uc003ktx.3	-	9	1078	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	ALDH7A1_uc003ktv.3_5'UTR|ALDH7A1_uc011cxa.2_Missense_Mutation_p.E323K	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	296					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCTCCAAGTTCCAACAGACTT	0.348000														52			27		0	0	0.003954	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38104026	38104026	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:38104026C>T	uc002ogq.3	+	4	2212	c.1845C>T	c.(1843-1845)gcC>gcT	p.A615A	LOC100507433_uc002ogu.3_Silent_p.A615A|LOC100507433_uc010efq.3_Silent_p.A583A	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		GTGGGAAGGCCTTTAGACTTA	0.393000														18			10		0	0	0.000673	0	0
ODZ2	57451	broad.mit.edu	37	5	167626914	167626914	+	Missense_Mutation	SNP	C	T	T	rs113287543		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:167626914C>T	uc010jjd.3	+	16	3181	c.3181C>T	c.(3181-3183)Cgc>Tgc	p.R1061C	ODZ2_uc003lzr.4_Missense_Mutation_p.R838C|ODZ2_uc003lzt.4_Missense_Mutation_p.R434C|ODZ2_uc010jje.3_Missense_Mutation_p.R332C	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGTGAAACTTCGCTATCTGAG	0.493000														99			51		0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57767778	57767778	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:57767778G>A	uc002yan.3	+	0	1704	c.1704G>A	c.(1702-1704)gaG>gaA	p.E568E		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	568						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCGCGGTGGAGGACCTGCCAG	0.711000														12			5		0	0	0.000602	0	0
RAVER1	125950	broad.mit.edu	37	19	10428173	10428173	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:10428173C>T	uc002moa.3	-	12	2308	c.2228G>A	c.(2227-2229)gGc>gAc	p.G743D	FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc021uou.1_5'Flank|RAVER1_uc002mnz.3_Missense_Mutation_p.A141T	NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	0						cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CGCGTAGTGGCCGCCGAGGCC	0.617000														54			22		0	0	0.003330	0	0
PRSS1	5644	broad.mit.edu	37	7	142459821	142459821	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:142459821C>T	uc003wak.2	+	2	414	c.397C>T	c.(397-399)Cca>Tca	p.P133S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.P73S	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	133	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CACCGCCCCTCCAGCCACTGG	0.572000														83			37		0	0	0.005524	0	0
VAT1L	57687	broad.mit.edu	37	16	77850830	77850830	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:77850830C>T	uc002ffg.1	+	1	343	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	82							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GATTAAACTTCATTGACTTGA	0.423000														20			15		0	0	0.004007	0	0
TTC37	9652	broad.mit.edu	37	5	94865928	94865928	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:94865928G>A	uc003klb.3	-	10	1054	c.757C>T	c.(757-759)Ctt>Ttt	p.L253F	TTC37_uc010jbf.2_Missense_Mutation_p.L205F	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	253							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCATCAGTAAGATTTCCTGGA	0.353000														20			12		0	0	0.001368	0	0
PSG11	5680	broad.mit.edu	37	19	43519355	43519355	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:43519355G>A	uc002ovm.1	-	3	984	c.877C>T	c.(877-879)Cca>Tca	p.P293S	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.P171S|PSG11_uc002ovo.1_Missense_Mutation_p.P171S	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	293	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTATGCTTTGGAGTAATCTGA	0.468000														96			56		0	0	0.003610	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489630	233489630	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:233489630G>A	uc001hvt.4	+	2	1325	c.1064G>A	c.(1063-1065)gGg>gAg	p.G355E	KIAA1804_uc001hvs.1_Missense_Mutation_p.G355E	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	355	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GTGGCTTATGGGGTAGCAGTC	0.512000														49			23		0	0	0.002299	0	0
SDK2	54549	broad.mit.edu	37	17	71419617	71419617	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:71419617G>A	uc010dfm.3	-	13	1805	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I	SDK2_uc010dfn.2_Missense_Mutation_p.T281I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	602	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTTTCCACGGTGCTGAGAGT	0.597000														16			10		0	0	0.006214	0	0
TRIM71	131405	broad.mit.edu	37	3	32932556	32932556	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:32932556C>T	uc003cff.3	+	3	1923	c.1860C>T	c.(1858-1860)atC>atT	p.I620I		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	620					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGGGCTACATCATTGTCGCCG	0.642000														15			13		0	0	0.001855	0	0
LSAMP	4045	broad.mit.edu	37	3	115738448	115738448	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:115738448A>C	uc011bis.2	-	2	935	c.428T>G	c.(427-429)gTg>gGg	p.V143G	LSAMP_uc003ebs.3_Missense_Mutation_p.V143G	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	143	Ig-like C2-type 2.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GCCCTCATTCACAGTGACATC	0.468000														16			18		0	0	0.001216	0	0
MYOCD	93649	broad.mit.edu	37	17	12656124	12656124	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:12656124C>T	uc002gno.2	+	9	1818	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	MYOCD_uc002gnn.2_Missense_Mutation_p.P507S|MYOCD_uc002gnp.1_Missense_Mutation_p.P411S|MYOCD_uc002gnq.2_Missense_Mutation_p.P226S	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	507	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGGCTCTGTTCCTTCTGAGCT	0.572000														19			12		0	0	0.002450	0	0
FAM149A	25854	broad.mit.edu	37	4	187086508	187086509	+	Missense_Mutation	DNP	GT	AA	AA	rs149087810		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:187086508_187086509GT>AA	uc003iyt.4	+	10	1633_1634	c.1054_1055GT>AA	c.(1054-1056)gtg>AAg	p.V352K	FAM149A_uc011cla.1_Missense_Mutation_p.V352K|FAM149A_uc010isl.3_Missense_Mutation_p.V352K|FAM149A_uc011clb.2_Missense_Mutation_p.V352K	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	643								p.G351G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GCCGACTGGCGTGGACCACATG	0.554000														34			18		0	0	0.004672	0	0
FERMT1	55612	broad.mit.edu	37	20	6068451	6068451	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:6068451C>T	uc002wmr.3	-	10	2133	c.1344G>A	c.(1342-1344)atG>atA	p.M448I	FERMT1_uc002wmq.3_Missense_Mutation_p.M1I|FERMT1_uc010gbt.3_Missense_Mutation_p.M191I|FERMT1_uc002wms.3_Missense_Mutation_p.M448I	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	448	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ACATTTCATTCATACCATCGG	0.393000														63			21		0	0	0.002780	0	0
FAT4	79633	broad.mit.edu	37	4	126372057	126372057	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:126372057C>T	uc003ifj.4	+	8	9886	c.9886C>T	c.(9886-9888)Ccc>Tcc	p.P3296S	FAT4_uc011cgp.2_Missense_Mutation_p.P1594S|FAT4_uc003ifi.1_Missense_Mutation_p.P774S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3296	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAATATGTGCCCCGTTTTGT	0.413000														24			12		0	0	0.001368	0	0
CPT1B	1375	broad.mit.edu	37	22	51009841	51009841	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:51009841G>A	uc003bmm.3	-	13	1802	c.1703C>T	c.(1702-1704)gCc>gTc	p.A568V	CPT1B_uc003bmk.4_Missense_Mutation_p.A568V|CPT1B_uc003bml.3_Missense_Mutation_p.A568V|CPT1B_uc003bmo.3_Missense_Mutation_p.A568V|CPT1B_uc011asa.2_Missense_Mutation_p.A534V|CPT1B_uc003bmn.3_Missense_Mutation_p.A568V|CPT1B_uc011asb.2_Missense_Mutation_p.A487V|CPT1B_uc003bmp.3_Missense_Mutation_p.A363V|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	568					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTGCACAAAGGCATCAGGGCT	0.627000														52			43		0	0	0.002852	0	0
C16orf85	400555	broad.mit.edu	37	16	88620449	88620449	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:88620449G>A	uc010vox.1	-	1	181	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S						RecName: Full=Putative uncharacterized protein C16orf85;											kidney(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(80;0.048)		TGAGCCTGGGGTAGGGGGATC	0.572000														81			38		0	0	0.005524	0	0
FREM2	341640	broad.mit.edu	37	13	39266618	39266618	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:39266618G>A	uc001uwv.3	+	0	5446	c.5137G>A	c.(5137-5139)Gac>Aac	p.D1713N		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1713					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTCAACCTGGACAAAGGCAA	0.418000														57			23		0	0	0.003330	0	0
CXCR7	57007	broad.mit.edu	37	2	237489778	237489778	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:237489778C>T	uc021vys.1	+	0	670	c.670C>T	c.(670-672)Ccc>Tcc	p.P224S	CXCR7_uc010fyq.3_Missense_Mutation_p.P224S|CXCR7_uc002vwd.3_Missense_Mutation_p.P224S	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	224					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		CTTTGCCGTTCCCTTCTCCAT	0.562000														73			41		0	0	0.001951	0	0
HYDIN	54768	broad.mit.edu	37	16	70926365	70926365	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:70926365T>G	uc002ezr.3	-	55	9464	c.9313A>C	c.(9313-9315)Aag>Cag	p.K3105Q		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3106										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGAACCCTTTTTGGGTTGG	0.433000														71			25		0	0	0.007291	0	0
UNC13C	440279	broad.mit.edu	37	15	54305830	54305830	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:54305830G>A	uc021smr.1	+	0	730	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	UNC13C_uc021sms.1_Missense_Mutation_p.E244K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	244					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGATGTCATGGAAATGATCTT	0.448000														13			14		0	0	0.001855	0	0
CCDC54	84692	broad.mit.edu	37	3	107096810	107096810	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:107096810A>G	uc003dwi.1	+	0	623	c.376A>G	c.(376-378)Atc>Gtc	p.I126V		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	126										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GACTAAAGATATCCTCTCTAT	0.383000														17			10		0	0	0.006214	0	0
TUBB6	84617	broad.mit.edu	37	18	12325112	12325112	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:12325112G>A	uc002kqw.3	+	3	359	c.324G>A	c.(322-324)gaG>gaA	p.E108E	TUBB6_uc002kqv.3_Silent_p.E36E|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	108					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACTACACGGAGGGCGCGGAGC	0.652000														37			41		0	0	0.002522	0	0
UNC5CL	222643	broad.mit.edu	37	6	41001672	41001672	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:41001672G>A	uc003opi.3	-	2	733	c.634C>T	c.(634-636)Ccg>Tcg	p.P212S	UNC5CL_uc010jxe.1_Missense_Mutation_p.P212S	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	212	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGCCCCCGGCCGCCCCAGG	0.627000														22			16		0	0	0.004990	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982478	7982478	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:7982478C>T	uc010sgh.2	-	3	532	c.511G>A	c.(511-513)Gga>Aga	p.G171R	SLC2A14_uc001qtk.3_Missense_Mutation_p.G156R|SLC2A14_uc001qtl.3_Missense_Mutation_p.G133R|SLC2A14_uc001qtm.3_Missense_Mutation_p.G133R|SLC2A14_uc010sgg.2_Missense_Mutation_p.G47R|SLC2A14_uc001qtn.3_Missense_Mutation_p.G156R|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	156					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTGCAGAGTCCGCAGAAGAGG	0.537000														32			12		0	0	0.001855	0	0
MYBL2	4605	broad.mit.edu	37	20	42331398	42331398	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:42331398C>T	uc002xlb.1	+	7	1435	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	MYBL2_uc010zwj.1_Missense_Mutation_p.P383L	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	407						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCACACCGCCCTCTGTGCTC	0.622000														33			12		0	0	0.001368	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649675	75649675	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:75649675A>C	uc004ecm.2	+	0	1630	c.1352A>C	c.(1351-1353)aAg>aCg	p.K451T		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	451						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GAGGGTCCTAAGGGTGCAGAA	0.527000														10			14		0	0	0.001855	0	0
POLR3A	11128	broad.mit.edu	37	10	79781924	79781924	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:79781924G>A	uc001jzn.3	-	5	997	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	288					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CATCGTTTAGGAAAATGATTT	0.373000														48			22		0	0	0.002299	0	0
HDAC4	9759	broad.mit.edu	37	2	240033241	240033241	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:240033241G>A	uc002vyk.4	-	13	2736	c.1944C>T	c.(1942-1944)acC>acT	p.T648T	HDAC4_uc010fyz.1_Silent_p.T643T|HDAC4_uc010zoa.1_Silent_p.T648T|HDAC4_uc010fza.2_Silent_p.T653T|HDAC4_uc010fyy.3_Silent_p.T605T|HDAC4_uc010znz.1_Silent_p.T531T	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	648					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCTCGGCTTGGTGGGGGGCT	0.706000														18			11		0	0	0.002450	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26888049	26888049	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:26888049G>A	uc001bmr.1	+	16	1648	c.1485G>A	c.(1483-1485)ggG>ggA	p.G495G	RPS6KA1_uc010ofe.1_Silent_p.G403G|RPS6KA1_uc010off.1_Silent_p.G479G|RPS6KA1_uc001bms.1_Silent_p.G504G|RPS6KA1_uc009vsl.1_Silent_p.G338G	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	495	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TGCGGGGTGGGGAGCTGCTGG	0.567000														87			59		0	0	0.003610	0	0
OR10A6	390093	broad.mit.edu	37	11	7949601	7949601	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:7949601G>A	uc010rbh.2	-	0	609	c.609C>T	c.(607-609)acC>acT	p.T203T		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAATCAAAAAGGTGCCTGTGA	0.393000														8			7		0	0	0.001984	0	0
SCN9A	6335	broad.mit.edu	37	2	167089885	167089885	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:167089885G>A	uc010fpl.3	-	20	4197	c.3856C>T	c.(3856-3858)Cct>Tct	p.P1286S	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1297						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCTCTTAGAGGTCTTAAAGCT	0.333000														6			4		0	0	0.000248	0	0
IFIT3	3437	broad.mit.edu	37	10	91099111	91099111	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:91099111C>T	uc001kgf.3	+	1	928	c.699C>T	c.(697-699)gcC>gcT	p.A233A	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron|IFIT3_uc001kgg.3_Silent_p.A233A	NM_001549	NP_001540	O14879	IFIT3_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 3 (IFIT3), transcript variant 1, mRNA.	233					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TTGAAGAAGCCTTGGAAAAGT	0.443000														36			32		0	0	0.002096	0	0
MAGI1	9223	broad.mit.edu	37	3	65415434	65415434	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:65415434G>A	uc003dmn.3	-	11	2454	c.1928C>T	c.(1927-1929)aCt>aTt	p.T643I	MAGI1_uc003dmm.3_Missense_Mutation_p.T643I|MAGI1_uc003dmo.3_Missense_Mutation_p.T643I|MAGI1_uc003dmp.3_Missense_Mutation_p.T643I|MAGI1_uc010hny.2_Missense_Mutation_p.T528I	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	643	PDZ 3.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AATATGAACAGTTATGAGTTC	0.488000														18			12		0	0	0.001368	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74531550	74531550	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:74531550C>T	uc001xpo.3	-	10	1577	c.1478G>A	c.(1477-1479)gGa>gAa	p.G493E	C14orf45_uc010tup.2_3'UTR|C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.G480E|ALDH6A1_uc010asa.3_Missense_Mutation_p.G338E	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	493						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	ATTGGTGTCTCCCCTGAAGGA	0.403000														21			10		0	0	0.000673	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909555	156909555	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:156909555C>T	uc001fqo.3	-	35	4801	c.3761G>A	c.(3760-3762)gGg>gAg	p.G1254E	ARHGEF11_uc010phu.2_Missense_Mutation_p.G670E|ARHGEF11_uc001fqn.3_Missense_Mutation_p.G1294E	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1254					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGGTGCTTGCCCTGGGGAGCC	0.637000														37			20		0	0	0.001882	0	0
FLAD1	80308	broad.mit.edu	37	1	154962690	154962691	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:154962690_154962691CC>TT	uc001fgf.2	+	3	1722_1723	c.1321_1322CC>TT	c.(1321-1323)cct>TTt	p.P441F	FLAD1_uc001fgd.2_Missense_Mutation_p.P441F|FLAD1_uc001fge.2_Missense_Mutation_p.P344F|FLAD1_uc001fgg.2_Missense_Mutation_p.P344F|FLAD1_uc001fgh.1_Missense_Mutation_p.L125F	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	441	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity	p.P441H(2)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGCATCTCCCCTTTCCCTGAG	0.540000														123			71		0	0	0.004672	0	0
CALN1	83698	broad.mit.edu	37	7	71252847	71252847	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:71252847C>T	uc003twb.4	-	6	1090	c.699G>A	c.(697-699)aaG>aaA	p.K233K	CALN1_uc003twa.4_Silent_p.K191K|CALN1_uc003twc.4_Silent_p.K191K	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	191						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATATGAGGCTCTTCCGGACGC	0.562000														61			23		0	0	0.003330	0	0
MRPL23	6150	broad.mit.edu	37	11	1977578	1977578	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:1977578C>T	uc001lux.3	+	4	481	c.390C>T	c.(388-390)ctC>ctT	p.L130L		NM_021134	NP_066957	Q16540	RM23_HUMAN	Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.	130					translation	mitochondrial large ribosomal subunit	RNA binding|nucleotide binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACAGCATGCTCGAGGAGGAGA	0.677000														18			25		0	0	0.003330	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123479417	123479417	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:123479417G>A	uc001pyw.2	+	11	1485	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	GRAMD1B_uc001pyx.2_Missense_Mutation_p.E379K|GRAMD1B_uc010rzw.2_Missense_Mutation_p.E339K|GRAMD1B_uc010rzx.1_Missense_Mutation_p.E339K|GRAMD1B_uc009zbe.1_Missense_Mutation_p.E375K|GRAMD1B_uc001pyy.2_Missense_Mutation_p.E70K	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	379						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GTACGTGAATGAAGTCTTCAA	0.567000														4			8		0	0	0.003080	0	0
DDO	8528	broad.mit.edu	37	6	110714252	110714252	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:110714252C>T	uc003puc.3	-	4	840	c.836G>A	c.(835-837)aGc>aAc	p.S279N	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Missense_Mutation_p.S220N	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	251					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AATCTCTCTGCTATTTTCTGC	0.552000														166			69		0	0	0.003610	0	0
ZNF618	114991	broad.mit.edu	37	9	116812373	116812373	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:116812373C>T	uc004bid.3	+	14	2890	c.2791C>T	c.(2791-2793)Cta>Tta	p.L931L	ZNF618_uc004bic.3_Silent_p.L838L|ZNF618_uc011lxi.2_Silent_p.L898L|ZNF618_uc011lxj.2_Silent_p.L899L|ZNF618_uc010mvb.3_Silent_p.L521L	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACAAGCGCTTCTAATCAAACG	0.493000														85			42		0	0	0.002522	0	0
PHRF1	57661	broad.mit.edu	37	11	608886	608886	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:608886G>A	uc001lqe.3	+	13	3561	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	PHRF1_uc010qwc.2_Missense_Mutation_p.E1143K|PHRF1_uc010qwd.2_Missense_Mutation_p.E1142K|PHRF1_uc010qwe.2_Missense_Mutation_p.E1140K|PHRF1_uc009ybz.1_Missense_Mutation_p.E934K|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1144	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACGCAGCCACGAGCGGCCAGA	0.677000														14			10		0	0	0.000978	0	0
FGD3	89846	broad.mit.edu	37	9	95768333	95768333	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:95768333C>G	uc004asz.2	+	5	1236	c.708C>G	c.(706-708)atC>atG	p.I236M	FGD3_uc004asw.2_Missense_Mutation_p.I236M|FGD3_uc004asx.2_Missense_Mutation_p.I236M|FGD3_uc004ata.3_Missense_Mutation_p.I39M	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	236	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TCGGGGACATCCTGCAGAAGC	0.557000														100			39		0	0	0.007835	0	0
ZNF662	389114	broad.mit.edu	37	3	42956042	42956042	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:42956042C>T	uc003cmk.2	+	3	741	c.555C>T	c.(553-555)gtC>gtT	p.V185V	ZNF662_uc003cmi.2_Silent_p.V159V|ZNF662_uc003cmj.2_Silent_p.V51V	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		AAGTGATTGTCAAGGATGAGA	0.383000														20			12		0	0	0.000978	0	0
C8G	733	broad.mit.edu	37	9	139840445	139840445	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:139840445C>T	uc004cka.2	+	2	415	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F	FBXW5_uc004cjx.3_5'Flank|FBXW5_uc004cjy.3_5'Flank|FBXW5_uc004cjz.3_5'Flank	NM_000606	NP_000597	P07360	CO8G_HUMAN	Homo sapiens complement component 8, gamma polypeptide (C8G), mRNA.	114					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		CCGCTTCCTGCTTCAAGGTGA	0.677000														4			4		0	0	0.000602	0	0
LRP1B	53353	broad.mit.edu	37	2	141739771	141739771	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:141739771C>T	uc002tvj.1	-	17	3817	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K	LRP1B_uc010fnl.1_Missense_Mutation_p.E131K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	949	LDL-receptor class A 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		CAGTCGTCTTCCCTGTCACAC	0.438000										TSP Lung(27;0.18)				23			11		0	0	0.000673	0	0
ABCA10	10349	broad.mit.edu	37	17	67149465	67149465	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:67149465C>T	uc010dfa.1	-	34	4996	c.4117G>A	c.(4117-4119)Gag>Aag	p.E1373K	ABCA10_uc002jhz.3_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.E365K|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1373	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGCTGCCCCTCGGGGTCCATC	0.478000														70			31		0	0	0.002445	0	0
OR8D1	283159	broad.mit.edu	37	11	124180280	124180280	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:124180280C>T	uc010sag.2	-	0	383	c.383G>A	c.(382-384)aGc>aAc	p.S128N		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AAGCAGTGGGCTACAGATGGC	0.498000														10			7		0	0	0.001984	0	0
SEPT12	124404	broad.mit.edu	37	16	4834041	4834041	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:4834041C>T	uc002cxq.3	-	4	667	c.403G>A	c.(403-405)Gag>Aag	p.E135K	SEPT12_uc002cxr.3_Intron|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	135					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCGTATTGCTCGTTGATGTAG	0.627000														99			44		0	0	0.003610	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829347	146829347	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:146829347G>A	uc003weu.2	+	7	1610	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	365	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGAAATTTGAGCTTTTCTTGT	0.433000										HNSCC(39;0.1)				38			11		0	0	0.000978	0	0
OR8B8	26493	broad.mit.edu	37	11	124310178	124310178	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:124310178C>T	uc010sal.2	-	0	804	c.804G>A	c.(802-804)atG>atA	p.M268I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGCCCTGGTTCATAGCTAAAA	0.453000														27			21		0	0	0.001216	0	0
ABL1	25	broad.mit.edu	37	9	133759803	133759803	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:133759803C>T	uc004bzw.3	+	10	2129	c.2126C>T	c.(2125-2127)tCc>tTc	p.S709F	ABL1_uc004bzv.3_Missense_Mutation_p.S728F	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	709					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GGTGGCAGCTCCAGCAAGCGC	0.682000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									32			18		0	0	0.004990	0	0
MARCO	8685	broad.mit.edu	37	2	119739818	119739818	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:119739818C>T	uc002tln.1	+	10	1120	c.988C>T	c.(988-990)Cct>Tct	p.P330S	MARCO_uc010yyf.1_Missense_Mutation_p.P252S	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	330	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGCTGGCTCCCCTGGGCGAGC	0.607000														59			48		0	0	0.002852	0	0
FLT3	2322	broad.mit.edu	37	13	28636206	28636206	+	Splice_Site	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:28636206C>T	uc001urw.3	-	3	248	c.166_splice	c.e3-1	p.V56_splice	FLT3_uc010aao.3_Splice_Site|FLT3_uc010tdn.2_Splice_Site_p.V56_splice	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	56					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GATTCTGATACCTACGTTGCA	0.483000			"""Mis, O"""		"""AML, ALL"""									47			22		0	0	0.001882	0	0
SDHAP2	727956	broad.mit.edu	37	3	195410687	195410687	+	Missense_Mutation	SNP	T	A	A	rs6583274	by1000genomes	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:195410687T>A	uc003fuw.3	+	12	1778	c.584T>A	c.(583-585)gTg>gAg	p.V195E	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		CCCTTTGAGGTGCACTGGAGG	0.567000														33			4		0	0	0.000248	0	0
PPFIA2	8499	broad.mit.edu	37	12	81833757	81833757	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:81833757A>C	uc001szo.2	-	6	800	c.639T>G	c.(637-639)aaT>aaG	p.N213K	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.N139K|PPFIA2_uc021rbh.1_Intron|PPFIA2_uc021rbi.1_Missense_Mutation_p.N213K|PPFIA2_uc021rbj.1_Missense_Mutation_p.N213K|PPFIA2_uc021rbk.1_Missense_Mutation_p.N195K|PPFIA2_uc021rbl.1_Missense_Mutation_p.N213K|PPFIA2_uc010sue.2_Missense_Mutation_p.N113K	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	139								p.A212T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTACCTCCTGATTAGCAGCAG	0.408000														26			14		0	0	0.002450	0	0
RILPL2	196383	broad.mit.edu	37	12	123900458	123900458	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:123900458G>A	uc001uey.1	-	3	913	c.616C>T	c.(616-618)Cga>Tga	p.R206*		NM_145058	NP_659495	Q969X0	RIPL2_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 2 (RILPL2), mRNA.	206						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		TTCCCCGATCGAAAAAAGAAC	0.498000														156			102		0	0	0.003610	0	0
TRPM5	29850	broad.mit.edu	37	11	2436058	2436059	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:2436058_2436059CC>TT	uc010qxl.2	-	10	1639_1640	c.1630_1631GG>AA	c.(1630-1632)ggt>AAt	p.G544N	TRPM5_uc001lwm.4_Missense_Mutation_p.G544N|TRPM5_uc009ydn.3_Missense_Mutation_p.G546N	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	544						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCTGCCACACCTTCCTGGCCC	0.698000														42			57		0	0	0.004672	0	0
KIAA1430	57587	broad.mit.edu	37	4	186097008	186097008	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:186097008G>A	uc003ixf.4	-	2	1399	c.1252C>T	c.(1252-1254)Ccc>Tcc	p.P418S	KIAA1430_uc003ixg.3_Missense_Mutation_p.P418S	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	418										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AACTTTGGGGGATGATCAGCC	0.413000														76			31		0	0	0.007291	0	0
ZNF195	7748	broad.mit.edu	37	11	3380423	3380423	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:3380423G>A	uc001lxt.3	-	5	1997	c.1815C>T	c.(1813-1815)ccC>ccT	p.P605P	ZNF195_uc010qxr.2_Silent_p.P586P|ZNF195_uc009ydz.3_Silent_p.P560P|ZNF195_uc001lxu.3_Silent_p.P537P|ZNF195_uc001lxv.3_Silent_p.P582P|ZNF195_uc021qck.1_Silent_p.P537P|ZNF195_uc001lxs.3_Silent_p.P533P	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CACACTTGTAGGGTTTCTCTC	0.363000														39			28		0	0	0.007291	0	0
FAM221B	392307	broad.mit.edu	37	9	35826156	35826156	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:35826156C>T	uc010mlc.2	-	1	288	c.3G>A	c.(1-3)atG>atA	p.M1I	FAM221B_uc003zyj.2_Non-coding_Transcript|FAM221B_uc011lpg.1_Missense_Mutation_p.M1I	NM_001012446	NP_001012448	A6H8Z2	CI128_HUMAN	Homo sapiens chromosome 9 open reading frame 128 (C9orf128), mRNA.	1										endometrium(2)|kidney(1)|lung(4)	7						CATGTGCTTCCATCTAGTGGT	0.507000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			24		0	0	0.003954	0	0
MORC3	23515	broad.mit.edu	37	21	37741392	37741392	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:37741392G>A	uc002yvi.3	+	14	1802	c.1726G>A	c.(1726-1728)Gat>Aat	p.D576N		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	576					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TGATGATGAAGATGTCATCAT	0.383000														45			27		0	0	0.005443	0	0
ACOT12	134526	broad.mit.edu	37	5	80681586	80681586	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:80681586C>G	uc003khl.4	-	1	242	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	RNU5E-1_uc011cto.1_Intron|ACOT12_uc003khm.3_Missense_Mutation_p.E63Q	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	63	Acyl coenzyme A hydrolase 1.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CTAGCTGTCTCCTCAAACTGT	0.453000														19			15		0	0	0.003163	0	0
SLIT3	6586	broad.mit.edu	37	5	168093559	168093559	+	Missense_Mutation	SNP	C	T	T	rs140403495		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:168093559C>T	uc010jjg.3	-	35	4913	c.4493G>A	c.(4492-4494)cGc>cAc	p.R1498H	SLIT3_uc003mab.3_Missense_Mutation_p.R1491H	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1491	CTCK.				Roundabout signaling pathway|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	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.Y1497Y(1)		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)			CCGCTTGCTGCGGGTGGGCTG	0.602000														31			16		0	0	0.004007	0	0
ADCY8	114	broad.mit.edu	37	8	131964221	131964221	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:131964221G>A	uc003ytd.4	-	2	1390	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	ADCY8_uc010mds.3_Silent_p.L378L	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	378					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAAACCGGGGGAGCACAGAAA	0.542000										HNSCC(32;0.087)				61			17		0	0	0.006122	0	0
OLFM3	118427	broad.mit.edu	37	1	102269975	102269975	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:102269975G>A	uc001duf.2	-	5	1327	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	OLFM3_uc001dug.2_Missense_Mutation_p.S399F|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.S324F|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	419	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GGTGGAATAGGAATAATACAC	0.448000														23			13		0	0	0.001855	0	0
TRRAP	8295	broad.mit.edu	37	7	98535299	98535299	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:98535299C>T	uc003upp.3	+	29	4469	c.4260C>T	c.(4258-4260)gtC>gtT	p.V1420V	TRRAP_uc011kis.2_Silent_p.V1420V|TRRAP_uc003upr.3_Silent_p.V1112V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1420					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCATAGAAGTCGATCAAATCC	0.408000														31			17		0	0	0.001523	0	0
SMO	6608	broad.mit.edu	37	7	128852240	128852240	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:128852240C>T	uc003vor.3	+	11	2592	c.2312C>T	c.(2311-2313)tCc>tTc	p.S771F	SMO_uc003vos.3_3'UTR	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	771					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCTATTCACTCCCGCACCAAC	0.617000			Mis		skin basal cell									49			52		0	0	0.003610	0	0
OR2M5	127059	broad.mit.edu	37	1	248309099	248309099	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:248309099C>T	uc010pze.2	+	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			ATCATCGCTTCCTATGCTCGA	0.423000														95			46		0	0	0.003214	0	0
CMYA5	202333	broad.mit.edu	37	5	79026206	79026206	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:79026206C>T	uc003kgc.3	+	1	1690	c.1618C>T	c.(1618-1620)Cca>Tca	p.P540S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	540	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCCAGAAAGCCCATTGGTTTC	0.428000														82			41		0	0	0.006230	0	0
MYCT1	80177	broad.mit.edu	37	6	153042964	153042964	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:153042964G>A	uc003qpc.4	+	1	292	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	95						nucleus		p.R95G(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TGTCTGTCTCGAAGAAGAAGA	0.478000														46			34		0	0	0.003271	0	0
MERTK	10461	broad.mit.edu	37	2	112785979	112785979	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:112785979C>T	uc002thk.1	+	18	2660	c.2538C>T	c.(2536-2538)acC>acT	p.T846T	MERTK_uc002thl.1_Silent_p.T670T	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	846	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACCGCCCCACCTTTTCAGTAT	0.448000														21			35		0	0	0.002836	0	0
AKR1C2	1646	broad.mit.edu	37	10	5037948	5037948	+	Splice_Site	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:5037948C>T	uc001ihs.3	-	8	1093	c.680_splice	c.e8+1	p.W227_splice	AKR1C3_uc001ihr.3_Intron|AKR1C2_uc009xhy.3_Splice_Site_p.W201_splice|AKR1C2_uc001iht.3_Splice_Site_p.W227_splice	NM_001354	NP_001345	P52895	AK1C2_HUMAN	Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) (AKR1C2), transcript variant 1, mRNA.	227					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	CTCTTATTACCATGGTTCTTC	0.403000														19			16		0	0	0.004990	0	0
EDC4	23644	broad.mit.edu	37	16	67915197	67915197	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:67915197C>T	uc002eur.3	+	19	2905	c.2666C>T	c.(2665-2667)gCc>gTc	p.A889V	EDC4_uc010cer.3_Missense_Mutation_p.A508V|EDC4_uc002eus.3_Missense_Mutation_p.A619V|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	889					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCCAGCCTTGCCTCTGCTTCA	0.597000														71			42		0	0	0.001951	0	0
MUC16	94025	broad.mit.edu	37	19	9064386	9064386	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:9064386G>A	uc002mkp.3	-	2	23264	c.23060C>T	c.(23059-23061)cCa>cTa	p.P7687L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7689	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						CGGGGAGGATGGAGGGCTGGT	0.552000														34			15		0	0	0.004990	0	0
HSD17B12	51144	broad.mit.edu	37	11	43702463	43702463	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:43702463C>T	uc001mxq.4	+	0	321	c.86C>T	c.(85-87)tCg>tTg	p.S29L	HSD17B12_uc001mxp.2_Non-coding_Transcript	NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA.	29					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						ATTTCGTACTCGCTCTTCACG	0.692000														41			19		0	0	0.006122	0	0
FAM55B	120406	broad.mit.edu	37	11	114569081	114569081	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:114569081C>T	uc009yyy.2	+	2	545	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_182495	NP_872301	Q96DL1	FA55B_HUMAN	Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.	149						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						GTGGGGATTTCCTGAGGGCCA	0.537000														5			7		0	0	0.001984	0	0
IGSF1	3547	broad.mit.edu	37	X	130409651	130409651	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:130409651G>A	uc004ewe.4	-	15	3283	c.3000C>T	c.(2998-3000)gtC>gtT	p.V1000V	IGSF1_uc004ewd.3_Silent_p.V995V|IGSF1_uc022cdv.1_Silent_p.V986V|IGSF1_uc004ewf.2_Silent_p.V975V	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	995	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTACTCCATGGACCGGCCCTC	0.512000														15			40		0	0	0.001951	0	0
GJD4	219770	broad.mit.edu	37	10	35896519	35896519	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:35896519C>T	uc001iyy.1	+	1	236	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	Homo sapiens gap junction protein, delta 4, 40.1kDa (GJD4), mRNA.	26					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGCTCTGGTTCGTCCTCACGA	0.572000														18			7		0	0	0.004482	0	0
PCLO	27445	broad.mit.edu	37	7	82579600	82579600	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:82579600C>T	uc003uhx.2	-	5	10593	c.10304G>A	c.(10303-10305)cGa>cAa	p.R3435Q	PCLO_uc003uhv.2_Missense_Mutation_p.R3435Q|PCLO_uc010lec.3_Missense_Mutation_p.R400Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3366					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTAAAACTTCGGGGATCATC	0.423000														42			40		0	0	0.006999	0	0
SEL1L3	23231	broad.mit.edu	37	4	25803972	25803972	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:25803972G>A	uc003gru.4	-	10	2041	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L	SEL1L3_uc003grv.3_Missense_Mutation_p.S37L	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	630						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTAGGCATACGACAGTTCCCA	0.488000														20			19		0	0	0.002299	0	0
ACAA2	10449	broad.mit.edu	37	18	47317897	47317897	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:47317897G>A	uc002ldw.4	-	6	1223	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_006111	NP_006102	P42765	THIM_HUMAN	Homo sapiens acetyl-CoA acyltransferase 2 (ACAA2), nuclear gene encoding mitochondrial protein, mRNA.	276					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						ATTCTTGCCAGTGGTGTGAAG	0.363000														39			19		0	0	0.002780	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	22775	22775	+	RNA	SNP	T	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrGL000241.1:22775T>A	uc011mgv.2	-	5		c.645A>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TCCAATTGCATCTGAATGCCC	0.328000														40			4		0	0	0.000248	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50464030	50464031	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:50464030_50464031GG>AT	uc010ybh.2	-	1	329_330	c.238_239CC>AT	c.(238-240)cca>ATa	p.P80I	SIGLEC11_uc010ybi.2_Missense_Mutation_p.P80I	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	80	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding	p.P68R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACCCGTCTTTGGGCTGGTCCGT	0.599000														29			16		0	0	0.004672	0	0
ABCC4	10257	broad.mit.edu	37	13	95830039	95830039	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:95830039T>C	uc001vmd.4	-	12	1768	c.1649A>G	c.(1648-1650)tAt>tGt	p.Y550C	ABCC4_uc010afk.3_Missense_Mutation_p.Y550C|ABCC4_uc001vme.2_Missense_Mutation_p.Y550C|ABCC4_uc010tih.1_Missense_Mutation_p.Y475C|ABCC4_uc001vmf.2_Missense_Mutation_p.Y507C|ABCC4_uc010afl.1_Missense_Mutation_p.Y507C|ABCC4_uc010afm.1_Missense_Mutation_p.Y563C	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	550	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AGCATCTTGATACACTGCTCT	0.433000														34			14		0	0	0.006122	0	0
NPHP4	261734	broad.mit.edu	37	1	5950972	5950972	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:5950972C>T	uc001alq.2	-	16	2528	c.2260G>A	c.(2260-2262)Gga>Aga	p.G754R	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	754			G -> R (in NPHP4; affects interaction with RPGRIP1L).		actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGAGTCTCCGTCCCAGACG	0.637000														9			8		0	0	0.003080	0	0
INPP5E	56623	broad.mit.edu	37	9	139326424	139326424	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:139326424G>A	uc004cho.3	-	6	1786	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	INPP5E_uc010nbm.3_Silent_p.T466T	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA.	467						Golgi cisterna membrane|cilium axoneme|cytoskeleton	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CATCGAAGCGGGTGGTGACGT	0.657000														24			16		0	0	0.004007	0	0
ZRANB3	84083	broad.mit.edu	37	2	135988271	135988271	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:135988271G>A	uc002tum.3	-	12	1883	c.1766C>T	c.(1765-1767)cCg>cTg	p.P589L	ZRANB3_uc002tuk.3_Missense_Mutation_p.P132L|ZRANB3_uc002tul.3_Missense_Mutation_p.P589L	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	589						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CTCTTCCGACGGACTGCAGTG	0.488000														66			41		0	0	0.007835	0	0
FRRS1	391059	broad.mit.edu	37	1	100195221	100195221	+	Silent	SNP	A	G	G	rs76965331	byFrequency	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:100195221A>G	uc001dsh.1	-	7	1445	c.843T>C	c.(841-843)ccT>ccC	p.P281P		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	281	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGTCCATTACAGGGTGACTTC	0.493000														21			9		0	0	0.000673	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328839	6328839	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:6328839G>A	uc003zjw.3	+	0	491	c.244G>A	c.(244-246)Gat>Aat	p.D82N	TPD52L3_uc003zjv.3_Missense_Mutation_p.D82N|TPD52L3_uc003zjx.2_Missense_Mutation_p.D82N	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	82							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GAGCTGGCTTGATGTTCAGGT	0.532000														36			23		0	0	0.002299	0	0
MDN1	23195	broad.mit.edu	37	6	90405698	90405699	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:90405698_90405699GG>AA	uc003pnn.1	-	60	9512_9513	c.9396_9397CC>TT	c.(9394-9399)tcccaa>tcTTaa	p.Q3133*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3133					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCTGGAGTTGGGAATCCGTGC	0.510000														86			35		0	0	0.004672	0	0
RNF103	7844	broad.mit.edu	37	2	86831052	86831052	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:86831052A>C	uc002srn.3	-	3	2963	c.1972T>G	c.(1972-1974)Tgt>Ggt	p.C658G	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.C519G|RNF103_uc021vkg.1_Missense_Mutation_p.C654G|BC066991_uc002sro.3_5'Flank	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	658					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACAGGGCAACAATGTCGGCCC	0.448000														37			33		0	0	0.002096	0	0
DDIT3	1649	broad.mit.edu	37	12	57911062	57911062	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:57911062C>T	uc009zpt.3	-	2	465	c.197G>A	c.(196-198)gGa>gAa	p.G66E	MARS_uc001sof.1_Intron|DDIT3_uc001soi.3_Missense_Mutation_p.G43E|DDIT3_uc021qzj.1_Missense_Mutation_p.G43E|DDIT3_uc021qzk.1_Missense_Mutation_p.G66E|DDIT3_uc021qzl.1_Missense_Mutation_p.G66E|DDIT3_uc009zps.3_Missense_Mutation_p.G66E	NM_001195053	NP_001181982	P35638	DDIT3_HUMAN	Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), transcript variant 1, mRNA.	43					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CTCTTCATTTCCAGGAGGTGA	0.468000			T	FUS	liposarcoma									26			19		0	0	0.006122	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522287	124522287	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:124522287G>A	uc004bln.3	+	5	724	c.655G>A	c.(655-657)Ggc>Agc	p.G219S	DAB2IP_uc004blo.3_Missense_Mutation_p.G123S	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	247	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCGCACCACGGGCAAGCTCAA	0.597000														16			17		0	0	0.007413	0	0
FBXL21	26223	broad.mit.edu	37	5	135277332	135277332	+	RNA	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:135277332G>A	uc021ydv.1	+	7		c.1759G>A			FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAAGAGTATGGTTCCCTGAT	0.393000														20			14		0	0	0.003163	0	0
OR52E6	390078	broad.mit.edu	37	11	5863035	5863035	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:5863035G>A	uc010qzq.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAAAAAGGGAATCCAATCC	0.458000														30			17		0	0	0.007413	0	0
CBWD5	220869	broad.mit.edu	37	9	70182053	70182053	+	RNA	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:70182053C>T	uc004afw.3	-	2		c.2059G>A						Q5RIA9	CBWD5_HUMAN	Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds.								ATP binding								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		ATCCTTCCAGCTCACTGGAGT	0.408000														26			44		0	0	0.003610	0	0
CDH11	1009	broad.mit.edu	37	16	64984701	64984701	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:64984701G>A	uc002eoi.3	-	11	2297	c.1863C>T	c.(1861-1863)atC>atT	p.I621I	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Silent_p.I621I|CDH11_uc010vin.2_Silent_p.I495I	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	621					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.I621I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CGAGGATGGCGATCAGGGCGC	0.622000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				23			16		0	0	0.004990	0	0
IL17B	27190	broad.mit.edu	37	5	148753990	148753990	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:148753990G>A	uc003lqo.3	-	2	535	c.485C>T	c.(484-486)cCt>cTt	p.P162L		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	Homo sapiens interleukin 17B (IL17B), mRNA.	162					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCGGCAAGGCCCTGTGCG	0.682000														47			26		0	0	0.005443	0	0
APC	324	broad.mit.edu	37	5	112174490	112174490	+	Nonsense_Mutation	SNP	C	T	T	rs137854571		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:112174490C>T	uc003kpz.4	+	16	3392	c.3199C>T	c.(3199-3201)Caa>Taa	p.Q1067*	APC_uc011cvt.2_Nonsense_Mutation_p.Q1049*|APC_uc003kpy.4_Nonsense_Mutation_p.Q1067*|APC_uc010jbz.3_Nonsense_Mutation_p.Q784*|APC_uc010jca.3_Nonsense_Mutation_p.Q367*	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1067	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Q1067*(2)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGAGCAAAGACAATCAAGGAA	0.388000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				16			11		0	0	0.000673	0	0
DPYD	1806	broad.mit.edu	37	1	98164978	98164978	+	Silent	SNP	A	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:98164978A>T	uc001drv.3	-	5	746	c.609T>A	c.(607-609)gcT>gcA	p.A203A	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	203					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCAAAAAGGAAGCACAACTTA	0.393000														37			14		0	0	0.002450	0	0
SLAIN2	57606	broad.mit.edu	37	4	48384831	48384831	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:48384831G>A	uc003gya.4	+	4	1253	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	SLAIN2_uc003gyb.1_Missense_Mutation_p.G40E	NM_020846	NP_065897	Q9P270	SLAI2_HUMAN	Homo sapiens SLAIN motif family, member 2 (SLAIN2), mRNA.	370						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCTGCTCGGGGAATAGAATAT	0.493000														27			8		0	0	0.003080	0	0
EPPK1	83481	broad.mit.edu	37	8	144944110	144944110	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:144944110C>T	uc003zaa.1	-	0	3325	c.3312G>A	c.(3310-3312)agG>agA	p.R1104R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1104						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAGTCTCATCCCTGGGGCACT	0.672000														34			7		0	0	0.003080	0	0
CDH16	1014	broad.mit.edu	37	16	66943179	66943179	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:66943179C>T	uc002eql.3	-	16	2577	c.2383G>A	c.(2383-2385)Gta>Ata	p.V795I	CDH16_uc010cdy.3_Missense_Mutation_p.V773I|CDH16_uc021tjx.1_Missense_Mutation_p.V756I|CDH16_uc002eqm.3_Missense_Mutation_p.V698I	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	795					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTATTGCTACCAGGGTGCCT	0.602000														19			12		0	0	0.001368	0	0
HERC2	8924	broad.mit.edu	37	15	28544556	28544556	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:28544556G>A	uc001zbj.3	-	2	285	c.179C>T	c.(178-180)cCt>cTt	p.P60L	HERC2_uc001zbl.1_5'UTR	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	60					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCTTTTCTAGGAGGGAGCTC	0.378000														55			30		0	0	0.001786	0	0
HECW1	23072	broad.mit.edu	37	7	43503334	43503335	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:43503334_43503335CC>TT	uc003tid.1	+	13	3332_3333	c.2727_2728CC>TT	c.(2725-2730)gcccca>gcTTca	p.P910S	HECW1_uc011kbi.1_Missense_Mutation_p.P876S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	910					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCGAGCAAGCCCCAGCAGGAGG	0.525000														35			53		0	0	0.004672	0	0
PCDH20	64881	broad.mit.edu	37	13	61987196	61987196	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:61987196C>T	uc001vid.4	-	1	1400	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	PCDH20_uc010thj.2_Missense_Mutation_p.D346N	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	319	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L346L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGTCTTTATCCACAGCCTGG	0.428000														50			32		0	0	0.005524	0	0
MUC16	94025	broad.mit.edu	37	19	9058555	9058555	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:9058555G>A	uc002mkp.3	-	2	29095	c.28891C>T	c.(28891-28893)Cct>Tct	p.P9631S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9633	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						GACTGAGCAGGGCCAGGAATG	0.507000														28			5		0	0	0.000602	0	0
BIRC6	57448	broad.mit.edu	37	2	32738066	32738066	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:32738066G>A	uc010ezu.3	+	53	10547	c.10413G>A	c.(10411-10413)agG>agA	p.R3471R		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3471					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.A3470A(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAAGTGGCAGGATGAACTACA	0.418000														59			32		0	0	0.004289	0	0
THSD7B	80731	broad.mit.edu	37	2	137990576	137990576	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:137990576G>A	uc002tva.1	+	7	1930	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.E534K	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.C643C(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCCTTGTTCTGAGGACACATT	0.522000														23			15		0	0	0.004990	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70946256	70946256	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:70946256C>T	uc001jpe.1	+	2	462	c.407C>T	c.(406-408)tCc>tTc	p.S136F	SUPV3L1_uc010qjd.1_Missense_Mutation_p.S5F	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	136					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGTCTCATTCCCTGGATGTG	0.353000														57			23		0	0	0.005443	0	0
WDR52	55779	broad.mit.edu	37	3	113145080	113145080	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:113145080C>T	uc003ead.2	-	3	365	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	WDR52_uc003eae.2_Missense_Mutation_p.E100K	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	100										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						TTCTTAACTTCCTCCTCTGCT	0.408000														33			32		0	0	0.001512	0	0
LDB1	8861	broad.mit.edu	37	10	103871230	103871230	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:103871230G>A	uc009xwz.3	-	1	432	c.89C>T	c.(88-90)cCc>cTc	p.P30L	LDB1_uc001kuk.4_5'UTR|LDB1_uc001kul.3_5'UTR	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	30					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		ATGGAAGGGGGGAAAGGCGTT	0.572000														51			21		0	0	0.001882	0	0
PTPRF	5792	broad.mit.edu	37	1	44071073	44071073	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:44071073C>T	uc001cjr.3	+	17	3688	c.3348C>T	c.(3346-3348)ttC>ttT	p.F1116F	PTPRF_uc001cjs.3_Silent_p.F1107F|PTPRF_uc001cju.3_Silent_p.F494F|PTPRF_uc009vwt.3_Silent_p.F676F|PTPRF_uc001cjv.3_Silent_p.F576F|PTPRF_uc001cjw.3_Silent_p.F342F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1116					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGCCGCTTCGATCTCTCCA	0.662000														45			21		0	0	0.002299	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975946	7975946	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:7975946G>A	uc002mit.3	+	6	822	c.757G>A	c.(757-759)Gag>Aag	p.E253K	MAP2K7_uc002miv.2_Missense_Mutation_p.E253K|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Missense_Mutation_p.E128K|MAP2K7_uc010xkb.2_Missense_Mutation_p.E253K	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	253	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CCTGCTGGACGAGCGGGGCCA	0.637000														29			23		0	0	0.002780	0	0
OBSCN	84033	broad.mit.edu	37	1	228558444	228558444	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:228558444G>A	uc009xez.1	+	92	20275	c.20231G>A	c.(20230-20232)cGa>cAa	p.R6744Q	OBSCN_uc001hsr.1_Missense_Mutation_p.R1373Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6744					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.S6744fs*4(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCCTGGCCCGAAGTCGCTGG	0.632000														60			36		0	0	0.006230	0	0
CNBD1	168975	broad.mit.edu	37	8	88365893	88365893	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:88365893G>A	uc003ydy.2	+	9	1230	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	394								p.G394R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTTATATGGGGAAACTTAAGG	0.323000														28			15		0	0	0.004990	0	0
USP32	84669	broad.mit.edu	37	17	58299810	58299810	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:58299810A>G	uc002iyo.1	-	14	1995	c.1709T>C	c.(1708-1710)cTt>cCt	p.L570P	USP32_uc002iyn.1_Missense_Mutation_p.L240P	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	570	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CCAGTGATAAAGTGCTCTCCA	0.433000														201			123		0	0	0.003610	0	0
VWA3B	200403	broad.mit.edu	37	2	98914472	98914472	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:98914472C>T	uc002syo.3	+	23	3524	c.3260C>T	c.(3259-3261)gCc>gTc	p.A1087V	VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.A744V|VWA3B_uc002syp.1_Missense_Mutation_p.A479V|VWA3B_uc002syq.1_Missense_Mutation_p.A363V|VWA3B_uc002syr.1_Missense_Mutation_p.A404V|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1087								p.A1087D(2)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTGGGGGGCGCCATGCCCTGC	0.587000														83			28		0	0	0.006320	0	0
MYH3	4621	broad.mit.edu	37	17	10541369	10541369	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:10541369C>T	uc002gmq.2	-	26	3808	c.3720G>A	c.(3718-3720)tcG>tcA	p.S1240S		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1240					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.S1240S(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTTAGATTTCGACACACTCT	0.547000														57			32		0	0	0.002836	0	0
GPATCH3	63906	broad.mit.edu	37	1	27224143	27224143	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:27224143C>T	uc001bne.3	-	1	554	c.525G>A	c.(523-525)ctG>ctA	p.L175L	BC016143_uc021ojq.1_Intron|GPATCH3_uc009vsp.2_5'UTR	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	Homo sapiens G patch domain containing 3 (GPATCH3), mRNA.	175						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGGTCAGCCAGGGTGAAGG	0.567000														24			24		0	0	0.003330	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320713	79320713	+	Silent	SNP	T	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:79320713T>C	uc010mpk.3	-	7	6601	c.6477A>G	c.(6475-6477)gaA>gaG	p.E2159E	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Silent_p.E1981E	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2159					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGAATCGAGTTCTGCATTGG	0.493000														71			44		0	0	0.002522	0	0
GPBP1	65056	broad.mit.edu	37	5	56557063	56557064	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:56557063_56557064CC>TT	uc003jrk.4	+	9	1295_1296	c.1238_1239CC>TT	c.(1237-1239)ccc>cTT	p.P413L	GPBP1_uc003jrh.4_Missense_Mutation_p.P406L|GPBP1_uc003jri.4_Missense_Mutation_p.P235L|GPBP1_uc003jrj.4_Missense_Mutation_p.P398L|GPBP1_uc021xyv.1_Missense_Mutation_p.P235L	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		ACATGTGCTCCCTTAACTGAGG	0.356000														82			39		0	0	0.004672	0	0
PDE7B	27115	broad.mit.edu	37	6	136472385	136472385	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:136472385G>A	uc003qgp.3	+	5	773	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.R209Q	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	157					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	ACCTTACACCGATTTTTAGGT	0.383000														28			18		0	0	0.004990	0	0
ZNF812	729648	broad.mit.edu	37	19	9801162	9801162	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:9801162C>T	uc021uop.1	-	5	1663	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G	ZNF812_uc010xkx.2_Silent_p.G235G	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGAAGGCTTTCCCACATTCCT	0.423000														22			31		0	0	0.002096	0	0
ING1	3621	broad.mit.edu	37	13	111368079	111368079	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:111368079C>T	uc001vri.3	+	0	721	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	CARS2_uc010tjm.1_5'Flank|DJ031140_uc001vre.3_5'Flank|ING1_uc001vrf.3_Intron|ING1_uc001vrg.3_Intron|ING1_uc001vrh.3_Intron	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	97					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ATCGGCGATTCCCATAGGCGG	0.706000														4			7		0	0	0.004482	0	0
PDZD4	57595	broad.mit.edu	37	X	153069993	153069993	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:153069993G>A	uc004fja.1	-	7	1393	c.1143C>T	c.(1141-1143)ctC>ctT	p.L381L	PDZD4_uc004fiy.1_Silent_p.L300L|PDZD4_uc004fiz.1_Silent_p.L375L|PDZD4_uc004fix.2_Silent_p.L279L|PDZD4_uc011mze.1_Silent_p.L266L|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	375						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAAGAGGAGGCCCAGCT	0.662000														7			26		0	0	0.006320	0	0
CHAF1B	8208	broad.mit.edu	37	21	37785272	37785272	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:37785272G>A	uc002yvj.3	+	11	1290	c.1152G>A	c.(1150-1152)ttG>ttA	p.L384L		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	384					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	p.P383H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GAATTCCTTTGAAAGAGAAGC	0.493000														41			26		0	0	0.003954	0	0
ITGB8	3696	broad.mit.edu	37	7	20371473	20371473	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:20371473G>A	uc003suu.3	+	0	749	c.44G>A	c.(43-45)tGc>tAc	p.C15Y	ITGB8_uc011jyh.2_Intron|ITGB8_uc003sut.3_Missense_Mutation_p.C15Y	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	15					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCATTTGTCTGCCTGCAAAAC	0.602000														21			18		0	0	0.001216	0	0
TGM4	7047	broad.mit.edu	37	3	44926890	44926890	+	Silent	SNP	G	A	A	rs143152961		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:44926890G>A	uc003coc.4	+	1	166	c.93G>A	c.(91-93)acG>acA	p.T31T	TGM4_uc003coa.2_Silent_p.T31T|TGM4_uc003cob.2_Non-coding_Transcript	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	31					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGTTCCAAACGAGCAGTCCTG	0.527000														24			8		0	0	0.003080	0	0
HRNR	388697	broad.mit.edu	37	1	152191011	152191011	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:152191011C>T	uc001ezt.1	-	2	3170	c.3094G>A	c.(3094-3096)Ggg>Agg	p.G1032R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1032					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGACCACCCTGAGCCAGAC	0.597000														131			69		0	0	0.003610	0	0
KIAA0319	9856	broad.mit.edu	37	6	24563733	24563733	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:24563733A>C	uc011djo.2	-	15	2945	c.2445T>G	c.(2443-2445)agT>agG	p.S815R	KIAA0319_uc011djp.2_Missense_Mutation_p.S770R|KIAA0319_uc003neh.1_Missense_Mutation_p.S815R|KIAA0319_uc011djq.1_Missense_Mutation_p.S806R|KIAA0319_uc011djr.1_Missense_Mutation_p.S815R|KIAA0319_uc010jpt.1_Missense_Mutation_p.S226R	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	815					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCACCAGGCCACTCTTCCTAG	0.547000														20			10		0	0	0.000673	0	0
VNN1	8876	broad.mit.edu	37	6	133013556	133013556	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:133013556C>T	uc003qdo.3	-	4	1014	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	332					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		CCTTTAAATTCCTTGTTTCCT	0.443000														26			8		0	0	0.003080	0	0
ZNF749	388567	broad.mit.edu	37	19	57956849	57956849	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:57956849C>T	uc002qoq.2	+	2	2587	c.2333C>T	c.(2332-2334)cCt>cTt	p.P778L		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		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;0.0264)|Lung(386;0.177)		GGAAAAAGGCCTTAGTGGAGT	0.388000														60			18		0	0	0.001216	0	0
MAT2A	4144	broad.mit.edu	37	2	85770792	85770792	+	Splice_Site	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:85770792G>A	uc002spr.3	+	9	1396	c.1086_splice	c.e9-1	p.R362_splice		NM_005911	NP_005902	P31153	METK2_HUMAN	Homo sapiens methionine adenosyltransferase II, alpha (MAT2A), mRNA.	362					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTATATTCCAGGGATCTGGAT	0.398000														27			14		0	0	0.002450	0	0
PCSK5	5125	broad.mit.edu	37	9	78547381	78547381	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:78547381C>T	uc004akc.2	+	1	817	c.279C>T	c.(277-279)ttC>ttT	p.F93F	PCSK5_uc004ajy.2_Silent_p.F93F|PCSK5_uc004ajz.3_Silent_p.F93F|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	93					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCACAGTTTCATTTCAATGG	0.478000														26			20		0	0	0.001882	0	0
THSD7B	80731	broad.mit.edu	37	2	138208522	138208522	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:138208522C>T	uc002tva.1	+	13	2974	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R1023*(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGTGAGAATTCGATCCAAATG	0.408000														19			12		0	0	0.001855	0	0
SCN7A	6332	broad.mit.edu	37	2	167289231	167289231	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:167289231G>A	uc002udu.2	-	14	2319	c.2189C>T	c.(2188-2190)tCa>tTa	p.S730L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	730					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGAACTAAATGAGCTCACCAA	0.328000														11			3		0	0	0.004672	0	0
GTF2F1	2962	broad.mit.edu	37	19	6381742	6381742	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:6381742C>T	uc002meq.2	-	6	1087	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	GTF2F1_uc010xjb.1_Missense_Mutation_p.G89S|GTF2F1_uc010xjc.1_Missense_Mutation_p.G183S	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	268					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						ACCTCTTGGCCCTCGAAGTCC	0.632000														32			22		0	0	0.001882	0	0
SORL1	6653	broad.mit.edu	37	11	121384924	121384924	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:121384924C>T	uc001pxx.3	+	7	1234	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	369					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGTAACAACCGCACCAATTT	0.483000														39			12		0	0	0.002450	0	0
DRD2	1813	broad.mit.edu	37	11	113283578	113283578	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:113283578C>T	uc001pnz.3	-	5	1159	c.838G>A	c.(838-840)Gag>Aag	p.E280K	DRD2_uc010rwv.2_Missense_Mutation_p.E279K|DRD2_uc001poa.4_Missense_Mutation_p.E280K|DRD2_uc001pob.4_Missense_Mutation_p.E251K	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	280	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ATCTCCATCTCCAGCTCCTGG	0.672000														35			21		0	0	0.001523	0	0
BNC1	646	broad.mit.edu	37	15	83926322	83926322	+	Missense_Mutation	SNP	G	A	A	rs138921537		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:83926322G>A	uc002bjt.1	-	4	2945	c.2857C>T	c.(2857-2859)Cgg>Tgg	p.R953W	BNC1_uc010uos.1_Missense_Mutation_p.R941W	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	953					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGGAGCTGCCGGAGGTGCACA	0.507000														81			54		0	0	0.003610	0	0
CHD1	1105	broad.mit.edu	37	5	98206457	98206457	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:98206457G>A	uc003knf.3	-	27	4060	c.3912C>T	c.(3910-3912)acC>acT	p.T1304T	CHD1_uc010jbn.3_Silent_p.T30T	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1304					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGTCTGCACGGGTCTGCAACT	0.363000														43			28		0	0	0.006320	0	0
MXRA5	25878	broad.mit.edu	37	X	3261761	3261761	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:3261761C>T	uc004crg.4	-	1	271	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	38	LRRNT.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCAGTGGACCTCGCTGGGGA	0.617000														6			9		0	0	0.000673	0	0
SOS2	6655	broad.mit.edu	37	14	50587031	50587031	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:50587031G>A	uc001wxs.4	-	21	3549	c.3451C>T	c.(3451-3453)Cct>Tct	p.P1151S	SOS2_uc010ans.3_5'UTR|SOS2_uc010tql.2_Missense_Mutation_p.P1118S	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	1151					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTTTTCGAGGAGGAAGAGGA	0.378000														21			13		0	0	0.002450	0	0
ABCA3	21	broad.mit.edu	37	16	2374517	2374517	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:2374517G>A	uc002cpy.1	-	5	1047	c.335C>T	c.(334-336)tCc>tTc	p.S112F	ABCA3_uc010bsk.1_Missense_Mutation_p.S112F|ABCA3_uc010bsl.1_Missense_Mutation_p.S112F|ABCA3_uc002cpz.1_Missense_Mutation_p.S112F	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	112					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GTCCTTCTCGGAGGGAAAGCC	0.587000														20			13		0	0	0.002450	0	0
EML4	27436	broad.mit.edu	37	2	42543128	42543128	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:42543128G>A	uc002rsi.3	+	17	2256	c.1994G>A	c.(1993-1995)aGa>aAa	p.R665K	EML4_uc010fap.3_Missense_Mutation_p.R607K|EML4_uc002rsj.3_Missense_Mutation_p.R354K|EML4_uc010faq.3_Missense_Mutation_p.R10K|EML4_uc010ynv.2_Intron	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	665					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCAGAAACCAGAGATCTAGTT	0.373000			T	ALK	NSCLC									56			25		0	0	0.005443	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19685262	19685262	+	Splice_Site	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:19685262C>T	uc002ykw.3	-	18	2196	c.2165_splice	c.e18+1	p.G722_splice		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	722	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AATTACTTACCCTAGTCCCAG	0.353000														47			19		0	0	0.006122	0	0
VCAN	1462	broad.mit.edu	37	5	82816889	82816889	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:82816889G>A	uc003kii.3	+	6	3120	c.2764G>A	c.(2764-2766)Gga>Aga	p.G922R	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.G922R|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	922	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACCATGGAAGGAAGTGCTTT	0.423000														61			26		0	0	0.006320	0	0
XIRP2	129446	broad.mit.edu	37	2	168106586	168106586	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:168106586A>C	uc002udx.3	+	8	8773	c.8684A>C	c.(8683-8685)gAa>gCa	p.E2895A	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E2720A|XIRP2_uc010fpq.3_Missense_Mutation_p.E2673A|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2720					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTCTGCAGGAAGAAAAATGT	0.363000														16			14		0	0	0.002450	0	0
VSX2	338917	broad.mit.edu	37	14	74727431	74727431	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:74727431G>A	uc001xpq.3	+	4	985	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_182894	NP_878314	P58304	VSX2_HUMAN	Homo sapiens visual system homeobox 2 (VSX2), mRNA.	299					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CATCTCCCAGGAGGAACTGAG	0.682000														10			6		0	0	0.001984	0	0
FMN2	56776	broad.mit.edu	37	1	240370231	240370231	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:240370231G>A	uc010pye.2	+	5	2356	c.2131G>A	c.(2131-2133)Ggt>Agt	p.G711S	FMN2_uc010pyd.2_Missense_Mutation_p.G707S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	707					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G850C(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGTGGCCAGTGGTCATCAAGG	0.483000														35			16		0	0	0.006122	0	0
KRT2	3849	broad.mit.edu	37	12	53041570	53041570	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:53041570C>T	uc001sat.3	-	5	1225	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	398	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CGGTTCAGCTCGCTGATCTCT	0.572000														30			11		0	0	0.000978	0	0
IP6K3	117283	broad.mit.edu	37	6	33693340	33693340	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:33693340C>T	uc010jvf.2	-	5	1179	c.643G>A	c.(643-645)Gat>Aat	p.D215N	IP6K3_uc003ofb.2_Missense_Mutation_p.D215N	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	215	Substrate binding (By similarity).				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						ATCTTCAGATCCAGGACACAG	0.557000														29			24		0	0	0.003330	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307928	39307928	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:39307928C>T	uc021wwc.1	-	1	209	c.169G>A	c.(169-171)Gac>Aac	p.D57N	CX3CR1_uc021wwa.1_Missense_Mutation_p.D25N|CX3CR1_uc021wwb.1_Missense_Mutation_p.D25N|CX3CR1_uc003cjl.3_Missense_Mutation_p.D25N|CX3CR1_uc021wwd.1_Missense_Mutation_p.D25N	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	25			T -> A.		cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		ACCACGATGTCCCCAATATAA	0.463000														32			21		0	0	0.001882	0	0
NCAPH2	29781	broad.mit.edu	37	22	50956401	50956401	+	Splice_Site	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:50956401G>A	uc003blx.4	+	6	543	c.421_splice	c.e6-1	p.E141_splice	NCAPH2_uc003blq.4_Splice_Site_p.E141_splice|NCAPH2_uc003blv.3_Splice_Site_p.E141_splice|NCAPH2_uc003blr.4_Splice_Site_p.E141_splice	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	141					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCTCCATGCAGGAGGTCCTCA	0.602000														46			25		0	0	0.003954	0	0
EHMT2	10919	broad.mit.edu	37	6	31848611	31848611	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:31848611G>A	uc003nxz.1	-	26	3301	c.3291C>T	c.(3289-3291)taC>taT	p.Y1097Y	EHMT2_uc003nxx.1_Silent_p.Y295Y|EHMT2_uc003nxy.1_Silent_p.Y895Y|EHMT2_uc011don.1_Silent_p.Y1120Y|EHMT2_uc003nya.1_Silent_p.Y1063Y|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	1097	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CATCTATGCAGTACACCTCTC	0.602000														330			176		0	0	0.003610	0	0
SSPO	23145	broad.mit.edu	37	7	149500864	149500864	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:149500864G>A	uc010lpk.3	+	54	8173	c.8173G>A	c.(8173-8175)Gac>Aac	p.D2725N		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2728	TSP type-1 6.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTCCCTGCGACCGCTCCTG	0.697000														16			7		0	0	0.001984	0	0
MAN2C1	4123	broad.mit.edu	37	15	75650637	75650637	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:75650637G>A	uc002bah.3	-	20	2520	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C	MAN2C1_uc010bkk.3_Missense_Mutation_p.R719C|MAN2C1_uc002baf.3_Missense_Mutation_p.R818C|MAN2C1_uc002bag.3_Missense_Mutation_p.R818C			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	818					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCCGCACGCGAGCAGGGAAC	0.587000														60			24		0	0	0.004656	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103568724	103568724	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:103568724G>A	uc001ymk.3	+	1	740	c.664G>A	c.(664-666)Gag>Aag	p.E222K		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	222										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GAGCGCGGAGGAGGAAGCCCA	0.751000														4			3		0	0	0.004672	0	0
EPB41L5	57669	broad.mit.edu	37	2	120776753	120776753	+	Silent	SNP	A	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:120776753A>T	uc002tmg.3	+	1	284	c.93A>T	c.(91-93)acA>acT	p.T31T	EPB41L5_uc010flk.3_Silent_p.T31T|EPB41L5_uc010fll.3_Silent_p.T31T|EPB41L5_uc002tmh.4_Silent_p.T31T	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA.	31						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.A30T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GCGCCGCCACACATATTCCTG	0.498000														62			98		0	0	0.003610	0	0
C1RL	51279	broad.mit.edu	37	12	7249398	7249398	+	Silent	SNP	C	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:7249398C>A	uc001qsn.3	-	5	1146	c.1053G>T	c.(1051-1053)ctG>ctT	p.L351L	C1RL_uc009zft.3_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	351	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	p.L351fs*35(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGTTGGGGCCCAGGGGGATGC	0.617000														39			17		4.7546e-09	6.26306e-09	0.004007	1	0
PRKCE	5581	broad.mit.edu	37	2	46378243	46378243	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:46378243G>A	uc002rut.3	+	12	1992	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	599	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity	p.E599E(1)	MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GCTGATGTACGAGATGATGGC	0.567000														25			14		0	0	0.004990	0	0
CDC14A	8556	broad.mit.edu	37	1	100964759	100964759	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:100964759C>T	uc001dtf.2	+	14	2184	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	CDC14A_uc010oui.1_Nonsense_Mutation_p.R508*|CDC14A_uc009wed.1_Nonsense_Mutation_p.R273*|CDC14A_uc001dtg.4_Nonsense_Mutation_p.R566*|CDC14A_uc009wee.3_Nonsense_Mutation_p.R566*	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	566					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R566Q(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CACCATCCTCCGACCCTCCTA	0.577000														56			23		0	0	0.003954	0	0
GRAMD3	65983	broad.mit.edu	37	5	125801181	125801182	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:125801181_125801182CC>TT	uc011cwt.2	+	1	428_429	c.192_193CC>TT	c.(190-195)tcccct>tcTTct	p.P65S	GRAMD3_uc003ktu.3_Missense_Mutation_p.P50S|GRAMD3_uc011cwv.2_Missense_Mutation_p.P43L|GRAMD3_uc011cww.2_5'UTR|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_5'UTR|GRAMD3_uc011cwz.2_Missense_Mutation_p.P34S|GRAMD3_uc011cwu.1_Missense_Mutation_p.P34S	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	50										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		CAGCCCAATCCCCTACCCCATC	0.495000														47			20		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179590692	179590692	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:179590692C>T	uc021vsy.1	-	66	16850	c.16625G>A	c.(16624-16626)gGa>gAa	p.G5542E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2203E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6469	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G5542V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGTGGTGTTCCCGAAAGTTC	0.413000														14			12		0	0	0.000978	0	0
PCDH20	64881	broad.mit.edu	37	13	61986097	61986097	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:61986097A>G	uc001vid.4	-	1	2499	c.2135T>C	c.(2134-2136)gTt>gCt	p.V712A	PCDH20_uc010thj.2_Missense_Mutation_p.V712A	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	685	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AACAGCTTCAACCCACAAAGT	0.443000														73			44		0	0	0.003610	0	0
CA9	768	broad.mit.edu	37	9	35675828	35675828	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:35675828C>T	uc003zxo.4	+	2	546	c.504C>T	c.(502-504)ccC>ccT	p.P168P	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	168	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATATCCGCCCCCAGCTCGCCG	0.711000														14			11		0	0	0.000673	0	0
MXRA5	25878	broad.mit.edu	37	X	3261786	3261786	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:3261786G>A	uc004crg.4	-	1	246	c.89C>T	c.(88-90)cCt>cTt	p.P30L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	30	LRRNT.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAGGCACAAGGATGCGGGCA	0.647000														8			12		0	0	0.001855	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933708	209933708	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:209933708G>A	uc001hho.3	+	2	744	c.324G>A	c.(322-324)agG>agA	p.R108R	TRAF3IP3_uc001hhm.2_Silent_p.R108R|TRAF3IP3_uc001hhn.3_Intron|TRAF3IP3_uc009xcr.3_Silent_p.R108R	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	108						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GTGCCAGAAGGATTTCTTCTC	0.612000														7			12		0	0	0.000978	0	0
ATP13A3	79572	broad.mit.edu	37	3	194176669	194176669	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:194176669C>T	uc003fty.4	-	6	985	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	195					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACAGCAATTTCATTTACTCCA	0.279000														73			39		0	0	0.003214	0	0
KIF21A	55605	broad.mit.edu	37	12	39726695	39726695	+	Splice_Site	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:39726695C>T	uc001rly.3	-	19	3122	c.2702_splice	c.e19+1	p.R901_splice	KIF21A_uc001rlv.3_5'Flank|KIF21A_uc001rlw.3_Splice_Site_p.R218_splice|KIF21A_uc001rlx.3_Splice_Site_p.R888_splice|KIF21A_uc001rlz.3_Splice_Site_p.R865_splice|KIF21A_uc010skl.2_Splice_Site_p.R888_splice	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	901					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTATGTAGACCTGTTTCCATT	0.438000														29			20		0	0	0.001216	0	0
SCARF2	91179	broad.mit.edu	37	22	20779757	20779757	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:20779757G>A	uc002zsj.2	-	10	2626	c.2521C>T	c.(2521-2523)Ccc>Tcc	p.P841S	SCARF2_uc002zsk.2_Missense_Mutation_p.P836S	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	837	Pro-rich.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTCTTCCGGGGGGTCTCAGGC	0.756000														8			4		0	0	0.000602	0	0
IMPG2	50939	broad.mit.edu	37	3	100963420	100963420	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:100963420G>A	uc003duq.2	-	12	1958	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	IMPG2_uc011bhe.2_Silent_p.F448F	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	585					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CATCTGGCAGGAAAGGGCTCA	0.433000														54			35		0	0	0.003271	0	0
ZFPM2	23414	broad.mit.edu	37	8	106810992	106810992	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:106810992G>A	uc003ymd.3	+	6	803	c.780G>A	c.(778-780)cgG>cgA	p.R260R	ZFPM2_uc011lhs.2_5'UTR	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	260					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R260R(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCTGGTATCGGAGTGAGCGGA	0.488000														23			20		0	0	0.001882	0	0
PLK3	1263	broad.mit.edu	37	1	45270013	45270013	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:45270013G>A	uc001cmn.3	+	11	1445	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	449						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CATGACAGCGGAACAGAACCC	0.612000														86			35		0	0	0.004878	0	0
ACTG1	71	broad.mit.edu	37	17	79478514	79478515	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:79478514_79478515CC>TT	uc002kak.2	-	3	759_760	c.501_502GG>AA	c.(499-504)gagggc>gaAAgc	p.G168S	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Missense_Mutation_p.G168S|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	168					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.G168A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			AGGGCGTAGCCCTCGTAGATGG	0.644000														62			41		0	0	0.004672	0	0
RNF175	285533	broad.mit.edu	37	4	154631608	154631608	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:154631608G>A	uc003int.3	-	8	1273	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	300						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GCCAATCCAGGATTTGTCCAT	0.428000														7			3		0	0	0.004672	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424192	69424192	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:69424192G>A	uc004dxx.1	+	5	782	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	229					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGGTGAGAACGAAGTTTTCAA	0.468000														2			5		0	0	0.000602	0	0
UTP6	55813	broad.mit.edu	37	17	30192395	30192395	+	Silent	SNP	G	A	A	rs138066981	byFrequency	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:30192395G>A	uc002hgr.3	-	17	1709	c.1626C>T	c.(1624-1626)tcC>tcT	p.S542S	UTP6_uc002hgq.3_Silent_p.S358S	NM_018428	NP_060898	Q9NYH9	UTP6_HUMAN	Homo sapiens UTP6, small subunit (SSU) processome component, homolog (yeast) (UTP6), mRNA.	542					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CAGAATCTGCGGATCCAAACT	0.408000														39			17		0	0	0.004990	0	0
AGPAT4	56895	broad.mit.edu	37	6	161575237	161575237	+	Missense_Mutation	SNP	G	A	A	rs143406726		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:161575237G>A	uc003qtr.1	-	3	681	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	AGPAT4_uc003qts.1_Missense_Mutation_p.R12C|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Missense_Mutation_p.R152C|AGPAT4_uc011egd.1_Missense_Mutation_p.R90C|AGPAT4_uc011ege.1_Missense_Mutation_p.S95L	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	152					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ACCGTCTTGCGATCCTGCTCC	0.562000														44			33		0	0	0.003271	0	0
LPHN2	23266	broad.mit.edu	37	1	82408831	82408831	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:82408831C>T	uc001dit.4	+	5	757	c.576C>T	c.(574-576)ttC>ttT	p.F192F	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.F192F|LPHN2_uc001div.3_Silent_p.F192F|LPHN2_uc009wcd.3_Silent_p.F192F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	192	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAGAAGATTTCCAAAATAGTC	0.383000														16			7		0	0	0.004482	0	0
CIT	11113	broad.mit.edu	37	12	120159206	120159206	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:120159206G>A	uc001txj.2	-	28	3696	c.3640C>T	c.(3640-3642)Cgt>Tgt	p.R1214C	CIT_uc001txh.2_Missense_Mutation_p.R706C|CIT_uc001txi.2_Missense_Mutation_p.R1172C	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1172	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAGTCAGACGGAAAATGTGA	0.458000														57			27		0	0	0.007291	0	0
GMPPA	29926	broad.mit.edu	37	2	220370189	220370189	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:220370189C>T	uc002vlv.3	+	8	1140	c.765C>T	c.(763-765)ctC>ctT	p.L255L	GMPPA_uc002vlr.3_Silent_p.L255L	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	255					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GTTCAGCCCTCTACGCCTCCC	0.662000														11			4		0	0	0.000248	0	0
FAM55D	54827	broad.mit.edu	37	11	114453428	114453428	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:114453428G>T	uc001ppc.3	-	2	593	c.412C>A	c.(412-414)Ctg>Atg	p.L138M	FAM55D_uc001ppd.3_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	138						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		CTGGCCCTCAGGAAATCCCCG	0.577000														12			7		2.74318e-10	3.63611e-10	0.006214	1	0
UGT1A1	54658	broad.mit.edu	37	2	234526745	234526745	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:234526745G>A	uc002vup.3	+	0	455	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	UGT1A1_uc010zmv.1_Missense_Mutation_p.R131Q	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	134					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.R131Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTTAATGACCGAAAATTAGTA	0.358000														83			41		0	0	0.001951	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256350	15256351	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:15256350_15256351GG>AA	uc001iob.3	-	7	1243_1244	c.1236_1237CC>TT	c.(1234-1239)accccc>acTTcc	p.P413S		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	413						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGAGCATGGGGGTGTGCAGGT	0.584000														62			22		0	0	0.004672	0	0
CRLF1	9244	broad.mit.edu	37	19	18709614	18709614	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:18709614G>A	uc010ebt.2	-	2	689	c.495C>T	c.(493-495)ctC>ctT	p.L165L		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	165	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	p.L165L(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGTTGGTGTGGAGGAAGGTCT	0.612000														60			23		0	0	0.004656	0	0
F13A1	2162	broad.mit.edu	37	6	6225023	6225023	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:6225023G>A	uc003mwv.3	-	6	992	c.869C>T	c.(868-870)cCa>cTa	p.P290L	F13A1_uc011dib.2_Missense_Mutation_p.P227L	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	290					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAGGCCGATGGGGGGACGCC	0.502000														45			37		0	0	0.006999	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113153388	113153388	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:113153388C>T	uc001vse.1	-	19	2606	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	TUBGCP3_uc010tjq.1_Missense_Mutation_p.E797K|TUBGCP3_uc001vsf.3_Missense_Mutation_p.E807K	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	807					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTTTTCTCTTCAAACTGTAAT	0.353000														32			16		0	0	0.006122	0	0
VWA3A	146177	broad.mit.edu	37	16	22122279	22122279	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:22122279C>T	uc010vbq.2	+	7	749	c.653C>T	c.(652-654)tCc>tTc	p.S218F	VWA3A_uc010bxc.2_Missense_Mutation_p.S205F	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	218						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AATGCCGGGTCCCTCTGGCCA	0.552000														7			5		0	0	0.001168	0	0
OR6B2	389090	broad.mit.edu	37	2	240968962	240968962	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:240968962C>T	uc010zoc.2	-	0	885	c.885G>A	c.(883-885)aaG>aaA	p.K295K	OR6B2_uc002vyr.3_Silent_p.K295K	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCTTAAATTCCTTGTTCCTCA	0.433000														80			43		0	0	0.003610	0	0
ABCA1	19	broad.mit.edu	37	9	107646745	107646745	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:107646745C>T	uc004bcl.3	-	3	669	c.265G>A	c.(265-267)Gag>Aag	p.E89K	ABCA1_uc004bcm.3_Missense_Mutation_p.E29K	NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	89					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCGGGAGCCTCCCCAGGAGTC	0.443000														49			26		0	0	0.005443	0	0
WNK1	65125	broad.mit.edu	37	12	971371	971371	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:971371G>A	uc021qss.1	+	7	2717	c.2074G>A	c.(2074-2076)Ggg>Agg	p.G692R	WNK1_uc001qio.4_Missense_Mutation_p.G692R|WNK1_uc021qst.1_Missense_Mutation_p.G692R|WNK1_uc001qip.4_Missense_Mutation_p.G692R|WNK1_uc001qir.4_Missense_Mutation_p.G139R	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	692					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CACAGTCCCAGGGCATATACC	0.468000														52			26		0	0	0.001786	0	0
EPN2	22905	broad.mit.edu	37	17	19186844	19186844	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:19186844G>A	uc002gvd.4	+	2	860	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	EPN2_uc002gvc.2_Missense_Mutation_p.E138K|EPN2_uc010vyn.1_Missense_Mutation_p.E138K|EPN2_uc010cql.1_Intron|EPN2_uc002gve.4_Missense_Mutation_p.E138K|EPN2_uc002gvf.4_Intron|EPN2_uc010vyo.2_Intron|EPN2_uc002gvh.1_Missense_Mutation_p.E138K|EPN2_uc010vyp.2_Missense_Mutation_p.E138K|EPN2_uc010vyq.2_Missense_Mutation_p.E138K	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	138	ENTH.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CAAGGACGAGGAACGGTTGAA	0.572000														41			23		0	0	0.002780	0	0
ZNF746	155061	broad.mit.edu	37	7	149172351	149172351	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:149172351C>T	uc010lpi.2	-	6	1333	c.1062G>A	c.(1060-1062)agG>agA	p.R354R	ZNF746_uc003wfw.2_Silent_p.R353R	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	353					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CACCCATGTCCCTCTCAGGCC	0.672000														45			9		0	0	0.000673	0	0
CREB1	1385	broad.mit.edu	37	2	208440042	208440042	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:208440042C>T	uc002vcc.3	+	6	845	c.594C>T	c.(592-594)acC>acT	p.T198T	CREB1_uc010ziz.1_Silent_p.T182T|CREB1_uc002vcd.3_Silent_p.T184T|CREB1_uc010zja.1_Non-coding_Transcript	NM_134442	NP_604391	P16220	CREB1_HUMAN	Homo sapiens cAMP responsive element binding protein 1 (CREB1), transcript variant B, mRNA.	198					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACAATGGTACCGATGGGGTAC	0.448000			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""									57			35		0	0	0.006230	0	0
ZNF646	9726	broad.mit.edu	37	16	31087862	31087862	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:31087862G>A	uc002eap.3	+	1	506	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.G73S	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCACGAGACTGGCCTTTTCCC	0.627000														31			20		0	0	0.001523	0	0
LRRC15	131578	broad.mit.edu	37	3	194080633	194080633	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:194080633G>A	uc003ftt.3	-	2	1283	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	LRRC15_uc003ftu.3_Silent_p.L380L|LRRC15_uc021xiy.1_Silent_p.L380L	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	380						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)		TATTCCCTGGGAGCTGTCTGA	0.587000														24			14		0	0	0.003163	0	0
NLRP12	91662	broad.mit.edu	37	19	54313760	54313760	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:54313760C>T	uc002qcj.4	-	2	1373	c.1153G>A	c.(1153-1155)Ggc>Agc	p.G385S	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G385S|NLRP12_uc002qci.4_Missense_Mutation_p.G385S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G385S	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	385	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.A384V(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGACTTGGCCCGCCTGCTCT	0.562000														136			74		0	0	0.003610	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687339	27687339	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:27687339G>A	uc001itu.2	-	3	2306	c.2188C>T	c.(2188-2190)Cca>Tca	p.P730S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	730					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGAAAATTTGGAAAATTGCTT	0.313000														22			10		0	0	0.006214	0	0
BRIP1	83990	broad.mit.edu	37	17	59885835	59885835	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:59885835C>T	uc002izk.2	-	6	1217	c.911G>A	c.(910-912)gGg>gAg	p.G304E		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	304	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CACGTTTTTCCCATCTAGCAA	0.338000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						42			19		0	0	0.001523	0	0
DHCR7	1717	broad.mit.edu	37	11	71146730	71146730	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:71146730C>T	uc001oqk.3	-	8	1369	c.1119G>A	c.(1117-1119)agG>agA	p.R373R	DHCR7_uc001oql.3_Silent_p.R373R	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	373					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CCTTGGGCTTCCTGCCCCAGA	0.652000									Smith-Lemli-Opitz syndrome					33			16		0	0	0.001523	0	0
GPSM1	26086	broad.mit.edu	37	9	139250282	139250282	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:139250282C>T	uc004chd.2	+	11	1816	c.1596C>T	c.(1594-1596)acC>acT	p.T532T	GPSM1_uc011mdu.1_Silent_p.T23T|GPSM1_uc022bpn.1_Silent_p.T23T|GPSM1_uc004che.2_Silent_p.T23T	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	532					cell differentiation|nervous system development|signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|plasma membrane	GTPase activator activity|binding	p.I532F(1)		biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCGCCCCCACCCTGGAGGACA	0.692000														25			22		0	0	0.003330	0	0
PTGFRN	5738	broad.mit.edu	37	1	117509688	117509688	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:117509688C>T	uc001egv.1	+	5	1932	c.1795C>T	c.(1795-1797)Ccc>Tcc	p.P599S		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	599	Ig-like C2-type 5.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CCTCTCCAGTCCCAATGAAAC	0.463000														58			29		0	0	0.001512	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716849	13716849	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:13716849C>T	uc009vnz.1	+	1	366	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	Homo sapiens PRAME family member 17 (PRAMEF17), mRNA.	112										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGGAATTTCTGGACTATAT	0.542000														89			64		0	0	0.003610	0	0
TNKS	8658	broad.mit.edu	37	8	9437707	9437707	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:9437707A>T	uc003wss.3	+	1	717	c.712A>T	c.(712-714)Atg>Ttg	p.M238L	TNKS_uc011kwv.1_Missense_Mutation_p.M238L|TNKS_uc011kww.2_Missense_Mutation_p.M1L	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	238					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTTACTACAGATGGGTGCTAA	0.388000														82			64		0	0	0.003610	0	0
WDR65	149465	broad.mit.edu	37	1	43675430	43675430	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:43675430C>T	uc021omk.1	+	10	1918	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.S580L|WDR65_uc001ciq.2_Missense_Mutation_p.S591L|WDR65_uc001cip.2_Missense_Mutation_p.S591L	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	591										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGAGAGATATCGGCGTTTGAT	0.572000														27			13		0	0	0.001368	0	0
MLH3	27030	broad.mit.edu	37	14	75513442	75513442	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:75513442G>A	uc001xrd.1	-	1	3133	c.2917C>T	c.(2917-2919)Ccc>Tcc	p.P973S	MLH3_uc001xre.1_Missense_Mutation_p.P973S|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	973					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TTATTATAGGGCAATACCAAA	0.353000								Mismatch excision repair (MMR)						36			21		0	0	0.001523	0	0
BRWD1	54014	broad.mit.edu	37	21	40601257	40601257	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:40601257C>T	uc002yxk.2	-	25	3401	c.3106G>A	c.(3106-3108)Gac>Aac	p.D1036N	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.D1036N|BRWD1_uc010god.1_Missense_Mutation_p.D2N	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AAAGATTTGTCCATAAGTTTT	0.328000														15			3		0	0	0.004672	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870012	151870013	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:151870012_151870013GG>AA	uc022chf.1	+	0	702_703	c.702_703GG>AA	c.(700-705)agggaa>agAAaa	p.E235K	MAGEA6_uc004ffq.1_Missense_Mutation_p.E235K|MAGEA6_uc004ffr.1_Missense_Mutation_p.E235K	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	235	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGGGAGGGAAGACAGTAT	0.535000														30			81		0	0	0.004672	0	0
CWH43	80157	broad.mit.edu	37	4	49009265	49009265	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:49009265A>C	uc003gyv.3	+	7	1290	c.1108A>C	c.(1108-1110)Aaa>Caa	p.K370Q	CWH43_uc011bzl.2_Missense_Mutation_p.K343Q	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	370					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGTCCTAAGAAAAACCTTGA	0.308000														23			15		0	0	0.006122	0	0
SZT2	23334	broad.mit.edu	37	1	43913864	43913864	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:43913864G>A	uc001cjk.2	+	67	9591	c.6981G>A	c.(6979-6981)ggG>ggA	p.G2327G	SZT2_uc001cjl.2_Silent_p.G315G	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	3226						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGCTCCTGGGAGTTCAGCTG	0.662000														13			6		0	0	0.001168	0	0
WBSCR17	64409	broad.mit.edu	37	7	70885994	70885994	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:70885994G>A	uc003tvy.3	+	4	865	c.865G>A	c.(865-867)Gag>Aag	p.E289K	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	289						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E289K(2)|p.E289G(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCAGCGGTACGAGAACTCGGC	0.587000														125			40		0	0	0.007835	0	0
GPR116	221395	broad.mit.edu	37	6	46845956	46845956	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:46845956C>T	uc003oyo.3	-	9	1512	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.G408E|GPR116_uc010jzi.1_Missense_Mutation_p.G80E|GPR116_uc003oyr.2_Missense_Mutation_p.G408E	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	408	Ig-like 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTTATTTTTCCTTCCTGCTT	0.408000														35			19		0	0	0.002780	0	0
MYOCD	93649	broad.mit.edu	37	17	12647604	12647604	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:12647604G>A	uc002gno.2	+	7	1121	c.822G>A	c.(820-822)aaG>aaA	p.K274K	MYOCD_uc002gnn.2_Silent_p.K274K|MYOCD_uc002gnp.1_Silent_p.K178K|MYOCD_uc002gnq.2_5'UTR	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	274					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGACCAGAAGGCAGAGAAGT	0.547000														46			18		0	0	0.001523	0	0
ZEB2	9839	broad.mit.edu	37	2	145157133	145157133	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:145157133G>A	uc002tvu.3	-	7	2143	c.1621C>T	c.(1621-1623)Cag>Tag	p.Q541*	ZEB2_uc010zbm.2_Nonsense_Mutation_p.Q517*|ZEB2_uc002tvv.3_Nonsense_Mutation_p.Q535*|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Nonsense_Mutation_p.Q570*	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	541						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTCAAGCTCTGGAGGCAAGCT	0.393000														49			19		0	0	0.001523	0	0
ABCA8	10351	broad.mit.edu	37	17	66933150	66933150	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:66933150A>T	uc002jhq.3	-	4	748	c.408T>A	c.(406-408)caT>caA	p.H136Q	ABCA8_uc002jhp.3_Missense_Mutation_p.H136Q|ABCA8_uc010wqq.2_Missense_Mutation_p.H136Q|ABCA8_uc010wqr.2_Missense_Mutation_p.H75Q|ABCA8_uc002jhr.3_Missense_Mutation_p.H136Q|ABCA8_uc002jhs.3_Missense_Mutation_p.H136Q|ABCA8_uc002jht.3_Missense_Mutation_p.H136Q	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	136						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Y135Y(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAACTTCAAATGATATGAGT	0.363000														21			14		0	0	0.002450	0	0
PCLO	27445	broad.mit.edu	37	7	82764940	82764940	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:82764940C>T	uc003uhx.2	-	2	2215	c.1926G>A	c.(1924-1926)atG>atA	p.M642I	PCLO_uc003uhv.2_Missense_Mutation_p.M642I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	588	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGCTCTTTTCATTTGACAGT	0.413000														17			7		0	0	0.004482	0	0
TNN	63923	broad.mit.edu	37	1	175054544	175054544	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:175054544T>G	uc001gkl.1	+	5	1351	c.1238T>G	c.(1237-1239)cTg>cGg	p.L413R	TNN_uc010pmx.1_Missense_Mutation_p.L413R	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	413	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.L413L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTTCCAGGTCTGCACCCGGGG	0.592000														9			13		0	0	0.001855	0	0
BACE1	23621	broad.mit.edu	37	11	117167627	117167627	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:117167627G>A	uc001pqz.3	-	1	773	c.312C>T	c.(310-312)gcC>gcT	p.A104A	BACE1_uc001pqw.3_Silent_p.A104A|BACE1_uc001pqx.3_Silent_p.A104A|BACE1_uc001pqy.3_Silent_p.A104A|BACE1_uc001pra.1_Silent_p.A104A|BACE1_uc010rxg.2_5'Flank|BACE1_uc010rxh.2_5'Flank	NM_012104	NP_036236	P56817	BACE1_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA.	104					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		AGGGGTGGGGGGCAGCACCCA	0.567000														57			23		0	0	0.007291	0	0
GCNT1	2650	broad.mit.edu	37	9	79117502	79117502	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:79117502G>A	uc022bif.1	+	0	205	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	GCNT1_uc010mpf.3_Missense_Mutation_p.E69K|GCNT1_uc010mpg.3_Missense_Mutation_p.E69K|GCNT1_uc010mph.3_Missense_Mutation_p.E69K|GCNT1_uc004akf.4_Missense_Mutation_p.E69K|GCNT1_uc010mpi.3_Missense_Mutation_p.E69K|GCNT1_uc004akh.4_Missense_Mutation_p.E69K	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	69	Stem region (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TGATGTAAATGAAATCCAAAA	0.403000														41			33		0	0	0.002836	0	0
NRXN2	9379	broad.mit.edu	37	11	64390505	64390505	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:64390505C>T	uc021qkw.1	-	20	4355	c.3893G>A	c.(3892-3894)gGg>gAg	p.G1298E	NRXN2_uc021qkx.1_Missense_Mutation_p.G1228E|NRXN2_uc001oas.3_Missense_Mutation_p.G1228E|NRXN2_uc001oao.3_5'UTR|NRXN2_uc001oap.3_Missense_Mutation_p.G252E|NRXN2_uc001oaq.3_Missense_Mutation_p.G965E	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1298	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						ATCCCGGCCCCCGATCTTGAT	0.662000														8			8		0	0	0.003080	0	0
GPR101	83550	broad.mit.edu	37	X	136112705	136112705	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:136112705G>A	uc011mwh.2	-	0	1129	c.1129C>T	c.(1129-1131)Cca>Tca	p.P377S		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	377						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CGACTGGGTGGGAGGCTCTCC	0.507000														18			45		0	0	0.002852	0	0
TRRAP	8295	broad.mit.edu	37	7	98547353	98547353	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:98547353G>T	uc003upp.3	+	35	5212	c.5003G>T	c.(5002-5004)cGa>cTa	p.R1668L	TRRAP_uc011kis.2_Missense_Mutation_p.R1650L|TRRAP_uc003upr.3_Missense_Mutation_p.R1367L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1668					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCAGTTGCGACGTGTGTGG	0.532000														32			16		1.56452e-12	2.0803e-12	0.007413	1	0
PKP2	5318	broad.mit.edu	37	12	32945415	32945415	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:32945415C>T	uc001rlj.4	-	13	2704	c.2589G>A	c.(2587-2589)aaG>aaA	p.K863K	PKP2_uc001rlk.4_Silent_p.K819K|PKP2_uc010skj.2_Silent_p.K816K	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	863					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AATCTGTCTTCTTAAACTGAG	0.423000														26			28		0	0	0.001512	0	0
MYOCD	93649	broad.mit.edu	37	17	12656112	12656112	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:12656112G>A	uc002gno.2	+	9	1806	c.1507G>A	c.(1507-1509)Ggg>Agg	p.G503R	MYOCD_uc002gnn.2_Missense_Mutation_p.G503R|MYOCD_uc002gnp.1_Missense_Mutation_p.G407R|MYOCD_uc002gnq.2_Missense_Mutation_p.G222R	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	503	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGCCTGAATGGGGGCTCTGT	0.582000														21			11		0	0	0.000978	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004087	126004087	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:126004087G>A	uc001uhe.1	+	3	1202	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	TMEM132B_uc021rgl.1_Silent_p.P288P	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	398						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGAGTACCCGATTGAGGACT	0.532000														61			43		0	0	0.001951	0	0
SESN2	83667	broad.mit.edu	37	1	28599271	28599271	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:28599271C>T	uc001bps.3	+	4	1113	c.717C>T	c.(715-717)agC>agT	p.S239S		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	239					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AACAGAGCAGCCCCCCAAGCA	0.627000														20			11		0	0	0.000978	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593000	101593000	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:101593000G>A	uc003knm.3	-	7	1575	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	430					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCAGCTCCAGGAATTAAAACA	0.363000														26			13		0	0	0.001855	0	0
ATP8B4	79895	broad.mit.edu	37	15	50226379	50226379	+	Splice_Site	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:50226379C>T	uc001zxu.3	-	15	1430	c.1288_splice	c.e15-1	p.E430_splice	ATP8B4_uc010ber.3_Splice_Site_p.E303_splice|ATP8B4_uc010ufd.2_Splice_Site_p.E303_splice|ATP8B4_uc010ufe.2_Splice_Site	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	430					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGCTCTTTTTCCTGTAGGAGA	0.338000														10			6		0	0	0.001168	0	0
DNAH8	1769	broad.mit.edu	37	6	38863945	38863945	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:38863945C>T	uc021yzh.1	+	59	8993	c.8884C>T	c.(8884-8886)Cca>Tca	p.P2962S	DNAH8_uc003ooe.2_Missense_Mutation_p.P2745S	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.A2961G(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATGCCAGAACCAACTGGTGA	0.388000														40			19		0	0	0.001216	0	0
NKAIN3	286183	broad.mit.edu	37	8	63492212	63492212	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:63492212T>G	uc010lyq.1	+	1	301	c.169T>G	c.(169-171)Tac>Gac	p.Y57D		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	57						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GACCATTCAGTACAGACCTCG	0.318000														18			11		0	0	0.001368	0	0
TFAP4	7023	broad.mit.edu	37	16	4312327	4312327	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:4312327G>A	uc010uxg.2	-	2	606	c.352C>T	c.(352-354)Cag>Tag	p.Q118*		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	118	Leucine-zipper 1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GGGCGCACCTGGATGAAGCGC	0.612000														83			37		0	0	0.001951	0	0
APCDD1	147495	broad.mit.edu	37	18	10471552	10471552	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:10471552T>C	uc002kom.4	+	2	622	c.268T>C	c.(268-270)Ttc>Ctc	p.F90L		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	90					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		AGGCCCAGAGTTCATCACAAG	0.428000														21			24		0	0	0.006320	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981864	51981864	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:51981864G>A	uc002pwv.1	+	1	151	c.151G>A	c.(151-153)Gga>Aga	p.G51R		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	51						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTCTCTGGAGGGACCCCTCCT	0.622000														29			6		0	0	0.001168	0	0
GLRA1	2741	broad.mit.edu	37	5	151202299	151202299	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:151202299T>C	uc003lut.3	-	8	1596	c.1309A>G	c.(1309-1311)Att>Gtt	p.I437V	GLRA1_uc003lur.3_Missense_Mutation_p.I429V|GLRA1_uc003lus.3_Missense_Mutation_p.I346V	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	437					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGTTGAAAATGAGGAAGGCC	0.512000														34			25		0	0	0.002780	0	0
PTPRT	11122	broad.mit.edu	37	20	41101144	41101144	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:41101144G>A	uc002xkg.3	-	7	1396	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	PTPRT_uc010ggj.3_Silent_p.T404T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	404	Fibronectin type-III 2.				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			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCACTGCAGGGTCAGCTGCC	0.572000														32			10		0	0	0.000673	0	0
NEU4	129807	broad.mit.edu	37	2	242755725	242755725	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:242755725G>A	uc002wcp.2	+	1	577	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	NEU4_uc010fzr.3_Missense_Mutation_p.R15Q|NEU4_uc002wcm.3_Missense_Mutation_p.R15Q|NEU4_uc002wco.2_Missense_Mutation_p.R15Q|NEU4_uc002wcn.2_Missense_Mutation_p.R27Q	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	15						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CTCTTCGAGCGGGAGAGGACG	0.692000														33			22		0	0	0.002299	0	0
PKD1	5310	broad.mit.edu	37	16	2159610	2159610	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:2159610G>A	uc002cos.1	-	14	5767	c.5558C>T	c.(5557-5559)aCc>aTc	p.T1853I	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.T1853I	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1853	PKD 14.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAAGACCATGGTGACATGAGG	0.657000														9			6		0	0	0.001168	0	0
RARA	5914	broad.mit.edu	37	17	38487555	38487555	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:38487555C>T	uc021txb.1	+	0	447	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	RARA_uc002huk.2_Missense_Mutation_p.P29S|RARA_uc002hul.4_Missense_Mutation_p.P29S|RARA_uc010wfe.2_Missense_Mutation_p.P29S	NM_001145301	NP_001138773	P10276	RARA_HUMAN	Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA.	29	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of T-helper 2 cell differentiation|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CTTCTTCTTCCCCCCTATGCT	0.632000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL									47			21		0	0	0.001216	0	0
VPS13B	157680	broad.mit.edu	37	8	100712097	100712097	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:100712097C>G	uc003yiv.3	+	35	6577	c.6466C>G	c.(6466-6468)Ctg>Gtg	p.L2156V	VPS13B_uc003yiw.3_Missense_Mutation_p.L2131V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2156					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAACCATGCCTGTTAGCATC	0.438000														37			10		0	0	0.006214	0	0
FAM24B	196792	broad.mit.edu	37	10	124608939	124608939	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:124608939C>T	uc001lgt.3	-	3	443	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	CUZD1_uc001lgs.3_5'UTR|CUZD1_uc010qtz.2_Intron|FAM24B_uc021qai.1_Missense_Mutation_p.E37K	NM_152644	NP_689857	Q8N5W8	FA24B_HUMAN	Homo sapiens family with sequence similarity 24, member B (FAM24B), transcript variant 1, mRNA.	37						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		GCCACAGCTTCAGGTTCCTTT	0.498000														45			20		0	0	0.002780	0	0
SLIT2	9353	broad.mit.edu	37	4	20619207	20619207	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:20619207C>T	uc003gpr.1	+	35	4486	c.4282C>T	c.(4282-4284)Ctt>Ttt	p.L1428F	SLIT2_uc003gps.1_Missense_Mutation_p.L1420F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1428					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.R1427S(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAAGTGCAGGCTTTCAGGTCT	0.562000														16			12		0	0	0.000978	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147140	26147140	+	Silent	SNP	G	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:26147140G>T	uc002dof.3	+	1	1334	c.942G>T	c.(940-942)ctG>ctT	p.L314L		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	314					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TTGAGGTGCTGGCCTTCAAAA	0.532000														108			55		1.13205e-32	1.51476e-32	0.003610	1	0
F13A1	2162	broad.mit.edu	37	6	6152106	6152106	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:6152106C>T	uc003mwv.3	-	13	2108	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	F13A1_uc011dib.2_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	662					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAGACATTTCGCAGGGTTTC	0.498000														36			22		0	0	0.001523	0	0
RSPH9	221421	broad.mit.edu	37	6	43618155	43618155	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:43618155G>A	uc003ovx.2	+	1	340	c.271G>A	c.(271-273)Gag>Aag	p.E91K	RSPH9_uc003ovw.2_Missense_Mutation_p.E91K	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	91					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCCACAGAGGAGATGGTGGC	0.537000									Kartagener syndrome					41			22		0	0	0.002299	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459369	92459369	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:92459369C>T	uc002bqx.2	+	1	528	c.327C>T	c.(325-327)atC>atT	p.I109I	SLCO3A1_uc002bqy.2_Silent_p.I109I|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.I51I	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	109					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.L108L(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CGCGCCTGATCGGCTGCGGCG	0.682000														9			11		0	0	0.000978	0	0
KEL	3792	broad.mit.edu	37	7	142649655	142649655	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:142649655G>A	uc003wcb.3	-	9	1354	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	382			Q -> R (in KEL23 antigen).		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)					CGTGCCTCCTGGAATTGACTG	0.532000														54			12		0	0	0.001368	0	0
OR2A25	392138	broad.mit.edu	37	7	143772113	143772113	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:143772113G>A	uc011ktx.2	+	0	801	c.801G>A	c.(799-801)aaG>aaA	p.K267K		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGAGCCCCAAGGAGCAGAAGA	0.463000														149			168		0	0	0.003610	0	0
COL22A1	169044	broad.mit.edu	37	8	139895406	139895407	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:139895406_139895407GG>AA	uc003yvd.3	-	1	456_457	c.9_10CC>TT	c.(7-12)ggcctc>ggTTtc	p.L4F		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	4					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	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)			TTCCCTCGGAGGCCGGCCATGG	0.663000										HNSCC(7;0.00092)				5			6		0	0	0.004672	0	0
DTX1	1840	broad.mit.edu	37	12	113534561	113534561	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:113534561C>T	uc001tuk.1	+	8	2016	c.1680C>T	c.(1678-1680)atC>atT	p.I560I		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	560					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GAAGACTCATCTTCACTATCG	0.637000														16			6		0	0	0.001984	0	0
KLHL4	56062	broad.mit.edu	37	X	86890589	86890589	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:86890589G>A	uc004efa.2	+	8	1921	c.1739G>A	c.(1738-1740)gGa>gAa	p.G580E	KLHL4_uc004efb.2_Missense_Mutation_p.G580E	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	580						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGACGTGATGGAAGTTCCTGC	0.398000														3			7		0	0	0.003080	0	0
C11orf85	283129	broad.mit.edu	37	11	64726820	64726820	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:64726820G>A	uc001ocb.1	-	1	122	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	C11orf85_uc001occ.1_Non-coding_Transcript|C11orf85_uc001ocd.1_Missense_Mutation_p.P20S	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	Homo sapiens chromosome 11 open reading frame 85 (C11orf85), mRNA.	20										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TACACATTGGGTCCTGCATGA	0.393000														48			21		0	0	0.003954	0	0
MLL5	55904	broad.mit.edu	37	7	104717435	104717435	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:104717435C>T	uc003vcm.3	+	9	1328	c.794C>T	c.(793-795)tCa>tTa	p.S265L	MLL5_uc010lja.1_Missense_Mutation_p.S119L|MLL5_uc010ljb.1_Missense_Mutation_p.S265L|MLL5_uc003vcl.3_Missense_Mutation_p.S265L|MLL5_uc010ljc.3_Missense_Mutation_p.S265L|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	265					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ATTGATCCTTCATCTGATGGT	0.423000														18			12		0	0	0.001855	0	0
FAT4	79633	broad.mit.edu	37	4	126370114	126370114	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:126370114C>T	uc003ifj.4	+	8	7943	c.7943C>T	c.(7942-7944)cCt>cTt	p.P2648L	FAT4_uc011cgp.2_Missense_Mutation_p.P946L|FAT4_uc003ifi.1_Missense_Mutation_p.P126L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2648	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ggtttccctcctttctCCTCT	0.368000														23			10		0	0	0.000673	0	0
ENTPD7	57089	broad.mit.edu	37	10	101458474	101458474	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:101458474C>T	uc009xwl.3	+	10	1555	c.1200C>T	c.(1198-1200)gcC>gcT	p.A400A	ENTPD7_uc001kqa.4_Silent_p.A398A	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA.	398						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CCAGCCAGGCCTCACTCAATG	0.507000														40			19		0	0	0.001523	0	0
SERPINA9	327657	broad.mit.edu	37	14	94931161	94931161	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:94931161G>A	uc001ydf.3	-	3	1148	c.987C>T	c.(985-987)tcC>tcT	p.S329S	SERPINA9_uc001yde.3_Silent_p.S229S|SERPINA9_uc010avc.3_Silent_p.S180S|SERPINA9_uc001ydg.3_Silent_p.S293S|SERPINA9_uc001ydh.1_Silent_p.S329S|SERPINA9_uc001ydi.1_Silent_p.S293S	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	311					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGGCAGAAATGGAAAATCTGG	0.458000														28			19		0	0	0.001523	0	0
LRRK2	120892	broad.mit.edu	37	12	40631877	40631877	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:40631877C>G	uc001rmg.4	+	4	664	c.543C>G	c.(541-543)tgC>tgG	p.C181W		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	181					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			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AACTTGGATGCAAAGCTTTAC	0.333000														47			19		0	0	0.001882	0	0
MAP3K9	4293	broad.mit.edu	37	14	71202707	71202707	+	Silent	SNP	G	A	A	rs143470273		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:71202707G>A	uc001xmm.3	-	8	1884	c.1884C>T	c.(1882-1884)acC>acT	p.T628T	MAP3K9_uc010ttk.2_Intron|MAP3K9_uc001xmk.3_Intron|MAP3K9_uc001xml.3_Silent_p.T628T	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	628					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATTCTGATGGGGTACTTAAAC	0.473000														29			13		0	0	0.002450	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1983830	1983830	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:1983830G>A	uc021qsx.1	-	17	2049	c.1818C>T	c.(1816-1818)gcC>gcT	p.A606A	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	606						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TATTGATCATGGCTGTTCTCA	0.493000														25			14		0	0	0.003163	0	0
PALB2	79728	broad.mit.edu	37	16	23635414	23635414	+	Splice_Site	SNP	A	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:23635414A>T	uc002dlx.1	-	8	2949	c.2749_splice	c.e8-1	p.V917_splice		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	917	Interaction with RAD51 and BRCA2.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TAATACTGGAACCTAAATAAA	0.338000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						18			6		0	0	0.003080	0	0
HAP1	9001	broad.mit.edu	37	17	39881132	39881132	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:39881132C>T	uc002hxm.1	-	11	1849	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.E561K|HAP1_uc002hxo.1_Missense_Mutation_p.E544K|HAP1_uc002hxp.1_Missense_Mutation_p.E536K	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	613					brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCGCTGGCCTCCAGGGCTGAT	0.607000														135			59		0	0	0.003610	0	0
APOH	350	broad.mit.edu	37	17	64216785	64216785	+	Missense_Mutation	SNP	G	A	A	rs11551960		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:64216785G>A	uc002jfn.4	-	4	550	c.491C>T	c.(490-492)tCc>tTc	p.S164F		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	164	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CCGATAGAGGGAATTGTTTCC	0.408000														55			18		0	0	0.002299	0	0
MAP2	4133	broad.mit.edu	37	2	210559632	210559632	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:210559632C>T	uc002vde.1	+	6	2986	c.2738C>T	c.(2737-2739)tCa>tTa	p.S913L	MAP2_uc002vdc.1_Missense_Mutation_p.S913L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S909L	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	913					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			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		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)	ACAGACCTTTCACTGATTGAA	0.458000														27			21		0	0	0.002780	0	0
MORC2	22880	broad.mit.edu	37	22	31345759	31345759	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:31345759T>A	uc003aje.1	-	5	1474	c.110A>T	c.(109-111)cAg>cTg	p.Q37L		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	99							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						ATTCCCGTACTGCCCAATCTG	0.463000														76			52		0	0	0.003610	0	0
WWC2	80014	broad.mit.edu	37	4	184210780	184210780	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:184210780G>A	uc010irx.3	+	20	3558	c.3376G>A	c.(3376-3378)Gag>Aag	p.E1126K	WWC2_uc003ivk.4_Missense_Mutation_p.E921K|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.E808K|WWC2_uc003ivn.4_Missense_Mutation_p.E641K|WWC2_uc010irz.3_Missense_Mutation_p.E467K|WWC2_uc003ivo.4_Missense_Mutation_p.E254K	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	1126										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GAAGCAAGCTGAGAAGCAGGT	0.522000														39			32		0	0	0.005524	0	0
RBP3	5949	broad.mit.edu	37	10	48389174	48389174	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:48389174G>A	uc001jez.3	-	0	1818	c.1704C>T	c.(1702-1704)atC>atT	p.I568I		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	568	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGCCCGCGGTGATCTCACCTA	0.667000														39			33		0	0	0.002836	0	0
CACNA1B	774	broad.mit.edu	37	9	140901302	140901302	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:140901302C>T	uc004cog.3	+	15	2203	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S	CACNA1B_uc022bqn.1_Silent_p.S686S|CACNA1B_uc011mfd.2_Silent_p.S288S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	686					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTTCTCGTCCTTTTACTTCA	0.557000														9			7		0	0	0.004482	0	0
ZP4	57829	broad.mit.edu	37	1	238050138	238050138	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:238050138C>T	uc001hym.3	-	5	1059	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	258	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCCACCAGTTCATTTTCATAT	0.468000														63			20		0	0	0.001216	0	0
LOC440040	440040	broad.mit.edu	37	11	49598421	49598421	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:49598421G>A	uc010rhy.2	+	1	1012	c.534G>A	c.(532-534)agG>agA	p.R178R	LOC440040_uc009ymb.3_Silent_p.R178R					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		TAGTGAAGAGGTACAACTGGA	0.428000														23			11		0	0	0.000673	0	0
MAP3K1	4214	broad.mit.edu	37	5	56152577	56152577	+	Splice_Site	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:56152577G>A	uc003jqw.4	+	2	1134	c.633_splice	c.e2+1	p.V211_splice		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	211			V -> VIQ (in SRXY6).		MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GAGGGCCTGTGGTAAGTGGCT	0.438000														25			11		0	0	0.000673	0	0
XIRP2	129446	broad.mit.edu	37	2	168100167	168100167	+	Silent	SNP	A	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:168100167A>G	uc002udx.3	+	8	2354	c.2265A>G	c.(2263-2265)aaA>aaG	p.K755K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K580K|XIRP2_uc010fpq.3_Silent_p.K533K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	580					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGAAATTAAAACTGTTCACA	0.353000														14			15		0	0	0.004007	0	0
FCER1A	2205	broad.mit.edu	37	1	159277548	159277548	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:159277548G>A	uc001ftq.3	+	5	697	c.600G>A	c.(598-600)gaG>gaA	p.E200E		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	200						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CTCCGCGTGAGAAGTACTGGC	0.413000														36			16		0	0	0.004007	0	0
SPACA7	122258	broad.mit.edu	37	13	113055406	113055406	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:113055406C>T	uc001vsd.2	+	4	422	c.373C>T	c.(373-375)Cat>Tat	p.H125Y		NM_145248	NP_660291	Q96KW9	SPAC7_HUMAN	Homo sapiens sperm acrosome associated 7 (SPACA7), mRNA.	125						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						tgcaaatctccatggcgatcc	0.418000														40			23		0	0	0.002780	0	0
SLC44A2	57153	broad.mit.edu	37	19	10748931	10748931	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:10748931C>T	uc002mpf.3	+	19	2008	c.1869C>T	c.(1867-1869)caC>caT	p.H623H	SLC44A2_uc002mpe.4_Silent_p.H621H|SLC44A2_uc002mpg.1_Silent_p.H343H|SLC44A2_uc002mph.3_Silent_p.H172H|SLC44A2_uc002mpi.3_Silent_p.H39H	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	623					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TCTTCACCCACCGTATCAGGA	0.498000														53			24		0	0	0.004656	0	0
CMAS	55907	broad.mit.edu	37	12	22215349	22215349	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:22215349G>A	uc001rfm.3	+	6	1174	c.1095G>A	c.(1093-1095)tgG>tgA	p.W365*	CMAS_uc001rfn.3_Non-coding_Transcript	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA.	365					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						GCCTGTGCTGGAAAGAAGTGG	0.358000														19			10		0	0	0.000673	0	0
CRKL	1399	broad.mit.edu	37	22	21288222	21288222	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:21288222C>T	uc002ztf.2	+	1	976	c.467C>T	c.(466-468)cCt>cTt	p.P156L		NM_005207	NP_005198	P46109	CRKL_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA.	156	SH3 1.				JNK cascade|Ras protein signal transduction	cytosol	SH3/SH2 adaptor activity|protein tyrosine kinase activity|signal transducer activity	p.P156H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			ATAGAGAAGCCTGAAGAACAG	0.483000														77			44		0	0	0.002522	0	0
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	T	T	rs34409589		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:105246551C>T	uc001ypk.3	-	2	603	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_uc001ypl.3_Missense_Mutation_p.E17K|AKT1_uc010axa.3_Missense_Mutation_p.E17K|AKT1_uc001ypm.3_Missense_Mutation_p.E17K|AKT1_uc001ypn.3_Missense_Mutation_p.E17K|AKT1_uc010tyk.2_5'Flank	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(255)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612000	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""									21			11		0	0	0.000978	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26236216	26236216	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:26236216C>T	uc003sxr.4	-	5	790	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	HNRNPA2B1_uc003sxs.4_Missense_Mutation_p.E180K	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	192					RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TCCTGCATTTCTTGTCTAGAC	0.343000			T	ETV1	prostate									31			48		0	0	0.003610	0	0
AMHR2	269	broad.mit.edu	37	12	53818634	53818634	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:53818634C>T	uc001scx.2	+	2	454	c.374C>T	c.(373-375)cCt>cTt	p.P125L	AMHR2_uc009zmy.2_Missense_Mutation_p.P125L|AMHR2_uc021qyg.1_Missense_Mutation_p.P125L	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	125					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CATCTGCCTCCTCCAGGGAGC	0.647000														87			40		0	0	0.003214	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933929	73933929	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:73933929G>A	uc003uaq.3	+	5	1189	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.A298T|GTF2IRD1_uc003uap.3_Missense_Mutation_p.A266T|GTF2IRD1_uc003uar.1_Missense_Mutation_p.A266T	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	266						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.A266T(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCCAACCACGCCATCCGAGA	0.697000														65			20		0	0	0.001216	0	0
C7	730	broad.mit.edu	37	5	40981531	40981531	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:40981531G>A	uc003jmh.3	+	17	2502	c.2388G>A	c.(2386-2388)gaG>gaA	p.E796E		NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	796	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGCATCGGAGTGCGAGGAAG	0.522000														8			8		0	0	0.003080	0	0
PDGFRL	5157	broad.mit.edu	37	8	17486220	17486220	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:17486220G>A	uc003wxr.3	+	4	1175	c.730G>A	c.(730-732)Gtt>Att	p.V244I		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	244						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CCAGGGTGTGGTTTACTGCAG	0.562000														43			31		0	0	0.002445	0	0
MLPH	79083	broad.mit.edu	37	2	238449015	238449015	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:238449015G>A	uc002vwt.3	+	9	1356	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	MLPH_uc002vws.3_Missense_Mutation_p.E234K|MLPH_uc010fyt.1_Missense_Mutation_p.E349K|MLPH_uc002vwu.3_Missense_Mutation_p.E349K|MLPH_uc002vwv.3_Missense_Mutation_p.E309K|MLPH_uc002vww.3_Missense_Mutation_p.E325K|MLPH_uc002vwx.3_Missense_Mutation_p.E233K	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.	377							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGTGCGCACGGAGGCCGATGT	0.617000														19			20		0	0	0.002780	0	0
MMP10	4319	broad.mit.edu	37	11	102650388	102650388	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:102650388C>T	uc001phg.2	-	1	231	c.194G>A	c.(193-195)gGa>gAa	p.G65E		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	65			G -> R (in dbSNP:rs17293607).		collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTTCTGCATTCCTTGGATTTT	0.438000														12			11		0	0	0.000673	0	0
RRP8	23378	broad.mit.edu	37	11	6623270	6623270	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:6623270C>T	uc001med.3	-	1	423	c.275G>A	c.(274-276)gGg>gAg	p.G92E	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	92					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TTTCTTCTTCCCTTTCTTCCC	0.468000														42			24		0	0	0.002780	0	0
BRPF1	7862	broad.mit.edu	37	3	9785336	9785336	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:9785336C>T	uc003bse.3	+	7	2767	c.2368C>T	c.(2368-2370)Ctg>Ttg	p.L790L	BRPF1_uc003bsf.3_Silent_p.L796L|BRPF1_uc003bsg.3_Silent_p.L789L|BRPF1_uc011ati.2_Silent_p.L790L	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	790	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AAAGCTGCTTCTGGAGCGGCT	0.587000														23			16		0	0	0.004007	0	0
C4orf50	389197	broad.mit.edu	37	4	5961201	5961201	+	RNA	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:5961201G>A	uc003git.2	-	6		c.2030C>T						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CTGGGCTCAGGAGCTCAGAGG	0.522000														64			17		0	0	0.001216	0	0
MSH5	4439	broad.mit.edu	37	6	31727959	31727959	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:31727959C>T	uc003nwu.2	+	18	1906	c.1778C>T	c.(1777-1779)cCc>cTc	p.P593L	MSH5_uc003nwx.2_Missense_Mutation_p.P610L|MSH5_uc003nwv.2_Missense_Mutation_p.P593L|MSH5_uc003nww.2_Missense_Mutation_p.P593L|MSH5_uc011dof.1_Missense_Mutation_p.P292L|MSH5_uc003nwy.1_Missense_Mutation_p.P267L|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	593					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						ATCACTGGACCCAACTCATCA	0.557000								Direct reversal of damage;Mismatch excision repair (MMR)						231			147		0	0	0.003610	0	0
PIK3R6	146850	broad.mit.edu	37	17	8739933	8739933	+	Splice_Site	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:8739933C>T	uc002glq.1	-	7	632	c.392_splice	c.e7-1	p.G131_splice	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Splice_Site	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	131					platelet activation	cytosol											GTACAGTGTCCCTGCAAACCA	0.522000														32			19		0	0	0.002780	0	0
NEXN	91624	broad.mit.edu	37	1	78383849	78383849	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:78383849G>A	uc001dic.4	+	4	635	c.338G>A	c.(337-339)aGa>aAa	p.R113K	NEXN_uc001dia.3_Missense_Mutation_p.R113K|NEXN_uc009wcb.1_Missense_Mutation_p.R49K|NEXN_uc001dib.4_Missense_Mutation_p.R49K|NEXN_uc001did.1_Missense_Mutation_p.R37K|NEXN_uc001dif.1_Missense_Mutation_p.R5K	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	113	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAGAAACAAAGACAAGAGGAA	0.338000														28			19		0	0	0.001523	0	0
EXOC6B	23233	broad.mit.edu	37	2	72802653	72802653	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:72802653G>A	uc010fep.3	-	6	952	c.814C>T	c.(814-816)Ctg>Ttg	p.L272L	EXOC6B_uc002sij.2_Silent_p.L272L	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	272					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCAACATCCAGAATTCCTGAA	0.358000														46			22		0	0	0.003330	0	0
CNTLN	54875	broad.mit.edu	37	9	17409438	17409438	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:17409438G>A	uc003zmz.2	+	15	2786	c.2760G>A	c.(2758-2760)caG>caA	p.Q920Q	CNTLN_uc003zmy.3_Silent_p.Q921Q|CNTLN_uc010mio.3_Silent_p.Q600Q	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	921						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAATAGTACAGACATATTTAA	0.318000														100			50		0	0	0.003610	0	0
PTPRR	5801	broad.mit.edu	37	12	71139615	71139615	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:71139615G>A	uc001swi.2	-	5	1404	c.990C>T	c.(988-990)ccC>ccT	p.P330P	PTPRR_uc001swh.2_Silent_p.P85P|PTPRR_uc009zrs.3_Silent_p.P124P|PTPRR_uc010stq.2_Silent_p.P218P|PTPRR_uc010str.1_Silent_p.P179P	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	330					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAAGTCCTATGGGCTTCATTT	0.428000														20			15		0	0	0.004990	0	0
POLD1	5424	broad.mit.edu	37	19	50918994	50918994	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:50918994G>A	uc010eny.3	+	20	2810	c.2809G>A	c.(2809-2811)Gac>Aac	p.D937N	POLD1_uc002psb.4_Missense_Mutation_p.D911N|POLD1_uc002psc.4_Missense_Mutation_p.D911N|POLD1_uc010enx.3_Intron	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	911					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GAGGAAGCGGGACCCCGGGAG	0.706000								DNA polymerases (catalytic subunits)						4			4		0	0	0.000602	0	0
KIF1B	23095	broad.mit.edu	37	1	10394662	10394662	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:10394662G>A	uc001aqx.4	+	27	3211	c.3009G>A	c.(3007-3009)cgG>cgA	p.R1003R	KIF1B_uc001aqw.4_Silent_p.R957R|KIF1B_uc001aqy.3_Silent_p.R977R|KIF1B_uc001aqz.3_Silent_p.R1003R|KIF1B_uc001ara.3_Silent_p.R963R|KIF1B_uc001arb.3_Silent_p.R989R	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1003					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GTGAAGTGCGGGGATTTCTGC	0.512000														49			35		0	0	0.004878	0	0
COL14A1	7373	broad.mit.edu	37	8	121219307	121219307	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:121219307C>T	uc003yox.3	+	9	1430	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S	COL14A1_uc003yoy.3_Missense_Mutation_p.P67S|COL14A1_uc010mde.1_Missense_Mutation_p.P67S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	389	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGTGTATTATCCTACCAGGGG	0.413000														32			10		0	0	0.000978	0	0
RANBP17	64901	broad.mit.edu	37	5	170345765	170345765	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:170345765C>T	uc003mba.3	+	9	1145	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	335					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTTTTGGCTCGTTTAAAGAC	0.338000			T	TRD@	ALL									16			12		0	0	0.000978	0	0
RP1L1	94137	broad.mit.edu	37	8	10469909	10469909	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:10469909C>T	uc003wtc.3	-	3	1928	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	567					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCGCTGGCCTCCTGCTGAGAG	0.652000														84			59		0	0	0.003610	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218305	130218305	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:130218305G>A	uc004evz.3	+	4	1017	c.672G>A	c.(670-672)agG>agA	p.R224R	ARHGAP36_uc004ewa.3_Silent_p.R212R|ARHGAP36_uc004ewb.3_Silent_p.R193R|ARHGAP36_uc004ewc.3_Silent_p.R88R	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	224					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GATCCAAAAGGAAGATGAGTC	0.478000														6			21		0	0	0.002780	0	0
NPAS1	4861	broad.mit.edu	37	19	47535937	47535937	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:47535937G>A	uc002pfw.3	+	4	665	c.469G>A	c.(469-471)Gga>Aga	p.G157R	NPAS1_uc002pfy.3_Missense_Mutation_p.G157R|NPAS1_uc010xyj.2_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	157	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GAACCAGGAAGGAAAATTCCT	0.577000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			30		0	0	0.002445	0	0
BMP6	654	broad.mit.edu	37	6	7727651	7727651	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:7727651G>A	uc003mxu.4	+	0	641	c.463G>A	c.(463-465)Ggg>Agg	p.G155R		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	155					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GGCGTCGGAGGGGGAGAGGCA	0.716000														16			6		0	0	0.003080	0	0
C12orf40	283461	broad.mit.edu	37	12	40020150	40020150	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:40020150C>T	uc001rmc.3	+	0	179	c.12C>T	c.(10-12)gtC>gtT	p.V4V	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	4								p.V4V(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGAATTGGGTCGGGGGGTCCC	0.542000														30			11		0	0	0.001368	0	0
DNAH7	56171	broad.mit.edu	37	2	196825299	196825299	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:196825299G>A	uc002utj.4	-	17	2677	c.2576C>T	c.(2575-2577)gCc>gTc	p.A859V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	859	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCAACAATGGCAGACATGGC	0.443000														47			33		0	0	0.002836	0	0
C1orf173	127254	broad.mit.edu	37	1	75065536	75065536	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:75065536C>T	uc001dgg.3	-	10	1788	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.M317I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	523	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTATTCCATTCATTTGAACAT	0.393000														38			17		0	0	0.004990	0	0
RING1	6015	broad.mit.edu	37	6	33177517	33177517	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:33177517C>T	uc003odk.3	+	2	387	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	RING1_uc011dqx.1_Missense_Mutation_p.L65F|RING1_uc003odl.3_Missense_Mutation_p.L36F	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	65	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CAAGGAGTGCCTCCACAGATT	0.512000														47			23		0	0	0.002299	0	0
NR1D2	9975	broad.mit.edu	37	3	24006538	24006538	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:24006538C>T	uc003ccs.2	+	5	1536	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.S331L	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	406					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.S406L(2)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GAAGAATTTTCGATGAGCTTC	0.403000														54			43		0	0	0.003610	0	0
CLCN1	1180	broad.mit.edu	37	7	143016940	143016940	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:143016940G>A	uc003wcr.1	+	1	360	c.273G>A	c.(271-273)aaG>aaA	p.K91K	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_5'Flank|CLCN1_uc010lox.1_5'Flank|CLCN1_uc010loy.1_5'Flank	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	91					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TGGACAGCAAGGATGAGGATC	0.458000														119			38		0	0	0.002222	0	0
CSMD3	114788	broad.mit.edu	37	8	113418828	113418828	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:113418828C>T	uc003ynu.3	-	34	5893	c.5734G>A	c.(5734-5736)Gga>Aga	p.G1912R	CSMD3_uc003yns.3_Missense_Mutation_p.G1114R|CSMD3_uc003ynt.3_Missense_Mutation_p.G1872R|CSMD3_uc011lhx.2_Missense_Mutation_p.G1808R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1912	Sushi 10.					integral to membrane|plasma membrane		p.G1912L(2)|p.G1912*(2)|p.G1912V(1)|p.G1872*(1)|p.G1872L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTATGGATCCATGGAGAATA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				37			15		0	0	0.004990	0	0
GPR158	57512	broad.mit.edu	37	10	25886955	25886955	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:25886955G>A	uc001isj.3	+	10	2460	c.2400G>A	c.(2398-2400)ggG>ggA	p.G800G	GPR158_uc001isk.3_Silent_p.G175G	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	800						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAACACAGGGAAATCCAAGG	0.547000														40			25		0	0	0.004656	0	0
MYBL2	4605	broad.mit.edu	37	20	42331391	42331391	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr20:42331391A>G	uc002xlb.1	+	7	1428	c.1213A>G	c.(1213-1215)Aca>Gca	p.T405A	MYBL2_uc010zwj.1_Missense_Mutation_p.T381A	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGCATTGGCACACCGCCCTC	0.627000														30			16		0	0	0.004990	0	0
FCGBP	8857	broad.mit.edu	37	19	40411909	40411909	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:40411909C>T	uc002omp.4	-	6	3727	c.3719G>A	c.(3718-3720)gGc>gAc	p.G1240D		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1240						extracellular region	protein binding	p.G1240R(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCCAAGCTGCCACCGGATGG	0.677000														40			23		0	0	0.003330	0	0
TRAK1	22906	broad.mit.edu	37	3	42243935	42243935	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:42243935G>A	uc003cky.3	+	12	1651	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	TRAK1_uc011azh.2_Missense_Mutation_p.E479K|TRAK1_uc011azi.2_Missense_Mutation_p.E479K|TRAK1_uc003ckz.4_Missense_Mutation_p.E405K|TRAK1_uc011azj.2_Missense_Mutation_p.E405K|TRAK1_uc003cla.3_Missense_Mutation_p.E421K	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	479	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CAGAAACGATGAGCGGAGTAA	0.652000														33			17		0	0	0.001216	0	0
IL27	246778	broad.mit.edu	37	16	28511060	28511061	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:28511060_28511061GA>AT	uc002dqc.3	-	4	666_667	c.643_644TC>AT	c.(643-645)tct>ATt	p.S215I	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	215					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CACGGCCCGAGATAAGACGAGC	0.668000														16			9		0	0	0.004672	0	0
SNRNP200	23020	broad.mit.edu	37	2	96963187	96963187	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:96963187G>A	uc002svu.3	-	10	1423	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	431						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GATCCATCAGGAAGCTGACAG	0.532000														38			10		0	0	0.000673	0	0
CLU	1191	broad.mit.edu	37	8	27462838	27462838	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:27462838C>T	uc003xfy.2	-	4	612	c.465G>A	c.(463-465)ctG>ctA	p.L155L	CLU_uc003xfw.2_Silent_p.L144L|CLU_uc003xfx.2_Silent_p.L144L|CLU_uc003xfz.2_Silent_p.L144L	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	144					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		AGCTCTGGTTCAGGAACTCCT	0.617000														21			8		0	0	0.006214	0	0
FAM55A	120400	broad.mit.edu	37	11	114393070	114393070	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:114393070C>T	uc001ppa.3	-	5	1255	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	FAM55A_uc010rxd.2_Missense_Mutation_p.E129K	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	422						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		CGGTCAATTTCCCGAGGGATA	0.438000														50			29		0	0	0.003271	0	0
COL13A1	1305	broad.mit.edu	37	10	71707089	71707089	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:71707089G>A	uc001jql.3	+	36	2552	c.2016G>A	c.(2014-2016)aaG>aaA	p.K672K	COL13A1_uc021prz.1_Silent_p.K623K|COL13A1_uc021psa.1_Silent_p.K600K|COL13A1_uc021psb.1_Silent_p.K594K|COL13A1_uc001jqk.2_Silent_p.K650K|COL13A1_uc021psc.1_Silent_p.K641K|COL13A1_uc021psd.1_Silent_p.K623K|COL13A1_uc010qjf.2_Silent_p.K600K|COL13A1_uc021pse.1_Silent_p.K594K|COL13A1_uc021psf.1_Silent_p.K672K|COL13A1_uc021psg.1_Silent_p.K650K|COL13A1_uc021psh.1_Silent_p.K641K	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	672	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CCGGGGACAAGGGAAACCGGG	0.527000														34			15		0	0	0.006122	0	0
FAM170A	340069	broad.mit.edu	37	5	118970010	118970010	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:118970010G>A	uc003ksm.2	+	2	777	c.567G>A	c.(565-567)ggG>ggA	p.G189G	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Silent_p.G189G|FAM170A_uc003kso.3_Silent_p.G142G	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	189						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AGCCCAGTGGGGAGGAGAAAG	0.562000														58			36		0	0	0.004878	0	0
RXFP2	122042	broad.mit.edu	37	13	32339209	32339209	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr13:32339209G>A	uc001utt.3	+	3	426	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	RXFP2_uc010aba.3_Missense_Mutation_p.E119K	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	119						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TGACTGCAAAGAAACTGAATT	0.318000														23			16		0	0	0.004990	0	0
ZNF845	91664	broad.mit.edu	37	19	53856226	53856226	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:53856226G>A	uc010ydv.1	+	3	2415	c.2298G>A	c.(2296-2298)agG>agA	p.R766R	ZNF845_uc010ydw.1_Silent_p.R766R	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	766					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAAACACAGGAGAATTCATA	0.403000														16			14		0	0	0.001855	0	0
CCDC53	51019	broad.mit.edu	37	12	102439876	102439876	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:102439876G>A	uc010svw.2	-	2	331	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C		NM_016053	NP_057137	Q9Y3C0	CCD53_HUMAN	Homo sapiens coiled-coil domain containing 53 (CCDC53), mRNA.	58						WASH complex	protein binding	p.R58C(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGTTGGATACGAAGTGAAAGG	0.294000														7			6		0	0	0.004482	0	0
KIAA0494	9813	broad.mit.edu	37	1	47155265	47155265	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:47155265C>T	uc001cqk.4	-	5	1766	c.789G>A	c.(787-789)ttG>ttA	p.L263L	KIAA0494_uc010omh.1_Silent_p.L263L|LOC100130197_uc021ond.1_Intron|LOC100130197_uc021one.1_Intron|KIAA0494_uc010omj.2_Silent_p.L119L	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	263							calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCACCTGTTTCAAATTCTCAC	0.468000														35			16		0	0	0.006122	0	0
ATXN3	4287	broad.mit.edu	37	14	92559603	92559603	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:92559603C>T	uc021rzo.1	-	4	449	c.380G>A	c.(379-381)gGa>gAa	p.G127E	ATXN3_uc021ryv.1_Non-coding_Transcript|ATXN3_uc010twl.2_5'UTR|ATXN3_uc021ryw.1_Non-coding_Transcript|ATXN3_uc021ryx.1_Missense_Mutation_p.G57E|ATXN3_uc021ryy.1_Intron|ATXN3_uc021ryz.1_Intron|ATXN3_uc021rza.1_Missense_Mutation_p.G127E|ATXN3_uc021rzb.1_Non-coding_Transcript|ATXN3_uc021rzc.1_Intron|ATXN3_uc021rzd.1_Intron|ATXN3_uc021rze.1_Intron|ATXN3_uc021rzf.1_Intron|ATXN3_uc021rzg.1_Non-coding_Transcript|ATXN3_uc021rzh.1_Non-coding_Transcript|ATXN3_uc021rzi.1_Intron|ATXN3_uc021rzj.1_Intron|ATXN3_uc021rzk.1_Non-coding_Transcript|ATXN3_uc021rzl.1_Non-coding_Transcript|ATXN3_uc001yac.4_Missense_Mutation_p.G127E|ATXN3_uc021rzm.1_Intron|ATXN3_uc001yae.4_Missense_Mutation_p.G29E|ATXN3_uc021rzn.1_Non-coding_Transcript|ATXN3_uc021ryo.1_Non-coding_Transcript|ATXN3_uc021ryp.1_Non-coding_Transcript|ATXN3_uc021ryq.1_Non-coding_Transcript|ATXN3_uc001yad.4_Missense_Mutation_p.G72E|ATXN3_uc021ryr.1_Non-coding_Transcript|ATXN3_uc021rys.1_Missense_Mutation_p.G29E|ATXN3_uc021ryt.1_Intron|ATXN3_uc021ryu.1_Intron|ATXN3_uc010aug.3_Missense_Mutation_p.G112E|ATXN3_uc021rzp.1_Missense_Mutation_p.G29E|ATXN3_uc021rzz.1_Non-coding_Transcript|ATXN3_uc021saa.1_Non-coding_Transcript|ATXN3_uc021sab.1_Missense_Mutation_p.G127E|ATXN3_uc021sac.1_Intron|ATXN3_uc021sad.1_Non-coding_Transcript|ATXN3_uc021sae.1_Missense_Mutation_p.G126E|ATXN3_uc021saf.1_Missense_Mutation_p.G29E|ATXN3_uc021sag.1_Intron|ATXN3_uc021sah.1_Missense_Mutation_p.G72E|ATXN3_uc021sai.1_Missense_Mutation_p.G29E|ATXN3_uc021saj.1_Non-coding_Transcript|ATXN3_uc021sak.1_Intron|ATXN3_uc021sal.1_Missense_Mutation_p.G29E|ATXN3_uc021sam.1_Intron|ATXN3_uc021san.1_Intron|ATXN3_uc021sao.1_Intron|ATXN3_uc021sap.1_Non-coding_Transcript|ATXN3_uc021saq.1_Non-coding_Transcript|ATXN3_uc021sar.1_Intron|ATXN3_uc021sas.1_Intron|ATXN3_uc021sat.1_Non-coding_Transcript|ATXN3_uc021sau.1_Intron|ATXN3_uc021rzq.1_Non-coding_Transcript|ATXN3_uc021rzr.1_Non-coding_Transcript|ATXN3_uc021rzs.1_Non-coding_Transcript|ATXN3_uc021rzt.1_Non-coding_Transcript|ATXN3_uc021rzu.1_Intron|ATXN3_uc021rzv.1_Missense_Mutation_p.G82E|ATXN3_uc021rzw.1_Non-coding_Transcript|ATXN3_uc021rzx.1_Non-coding_Transcript|ATXN3_uc021rzy.1_Non-coding_Transcript|ATXN3_uc021sav.1_Intron	NM_004993	NP_004984	P54252	ATX3_HUMAN	Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA.	127	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TACCTGTTTTCCTAATTTTCT	0.313000														12			4		0	0	0.000602	0	0
DNA2	1763	broad.mit.edu	37	10	70192195	70192195	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:70192195G>A	uc021pru.1	-	10	1977	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	DNA2_uc021prt.1_Silent_p.T659T|DNA2_uc021prv.1_5'Flank|DNA2_uc001jog.2_Silent_p.T573T|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	573					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TTCCTAATGGGGTATCTATAT	0.313000														11			4		0	0	0.000602	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346978	140346978	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:140346978G>A	uc003lii.3	+	0	1232	c.627G>A	c.(625-627)ctG>ctA	p.L209L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.L209L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	209	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTTGAGCTGGTGCTGCGTA	0.627000														12			19		0	0	0.006122	0	0
SCG3	29106	broad.mit.edu	37	15	51975628	51975628	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:51975628C>T	uc002abh.3	+	3	797	c.394C>T	c.(394-396)Caa>Taa	p.Q132*	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	132					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TCATAAATTTCAAGGTAAATG	0.289000														19			38		0	0	0.004878	0	0
FAM26D	221301	broad.mit.edu	37	6	116879226	116879226	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:116879226T>A	uc003pxa.3	+	3	667	c.368T>A	c.(367-369)aTt>aAt	p.I123N	FAM26D_uc003pwz.3_Missense_Mutation_p.I80N|FAM26D_uc010ked.3_Missense_Mutation_p.I122N|FAM26D_uc021zed.1_Missense_Mutation_p.I80N	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN	Homo sapiens family with sequence similarity 26, member D (FAM26D), mRNA.	266						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		CACATCCGCATTCCTTCTTGT	0.468000														57			52		0	0	0.003610	0	0
SIM1	6492	broad.mit.edu	37	6	100895166	100895166	+	Missense_Mutation	SNP	C	T	T	rs41285857	by1000genomes	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:100895166C>T	uc003pqj.4	-	7	1443	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	SIM1_uc021zdg.1_Missense_Mutation_p.V326I|SIM1_uc010kcu.3_Missense_Mutation_p.V326I	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	326	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGACGCTGACGATACAGTGT	0.622000														21			12		0	0	0.000978	0	0
SASH1	23328	broad.mit.edu	37	6	148853933	148853933	+	Splice_Site	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:148853933G>A	uc003qme.1	+	14	2040	c.1565_splice	c.e14-1	p.S522_splice	SASH1_uc011eeb.1_Splice_Site_p.S283_splice|SASH1_uc003qmf.1_Splice_Site	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	522							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCTGTACAGGCGGTCAAACA	0.522000														73			4		0	0	0.000602	0	0
CSF2RA	1438	broad.mit.edu	37	X	1409325	1409325	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:1409325A>G	uc010nct.2	+	7	891	c.569A>G	c.(568-570)aAt>aGt	p.N190S	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.N190S|CSF2RA_uc004cpq.2_Missense_Mutation_p.N190S|CSF2RA_uc004cpn.2_Missense_Mutation_p.N190S|CSF2RA_uc004cpo.2_Missense_Mutation_p.N190S|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.N57S|CSF2RA_uc004cpp.2_Missense_Mutation_p.N190S|CSF2RA_uc010ncv.2_Missense_Mutation_p.N190S|CSF2RA_uc004cpr.2_Missense_Mutation_p.N190S	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	190						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R189H(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGTCTCGCAATTACTTTCTG	0.418000														205			130		0	0	0.003610	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456559	5456559	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:5456559C>G	uc002mca.4	+	0	1134	c.1057C>G	c.(1057-1059)Cag>Gag	p.Q353E		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	353						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGTGTGCAAACAGTCGGTGGC	0.642000														43			37		0	0	0.004289	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475666	140475666	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:140475666C>T	uc003lil.3	+	0	1430	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	PCDHB2_uc003lim.1_Missense_Mutation_p.P92L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	431	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGGGACACCCAGGCTGAAA	0.562000														75			41		0	0	0.005524	0	0
RPUSD1	113000	broad.mit.edu	37	16	836243	836243	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:836243G>A	uc002cka.3	-	4	880	c.646C>T	c.(646-648)Ccc>Tcc	p.P216S	RPUSD1_uc002ckb.3_Missense_Mutation_p.P216S|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	216					pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GTGTCCGTGGGGATGCGCAGG	0.667000														72			44		0	0	0.002222	0	0
ASXL3	80816	broad.mit.edu	37	18	31319839	31319839	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:31319839C>T	uc010dmg.1	+	10	2526	c.2471C>T	c.(2470-2472)cCg>cTg	p.P824L	ASXL3_uc002kxq.2_Missense_Mutation_p.P531L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAGCATTTCCGTCTGAAGAT	0.448000														19			9		0	0	0.004482	0	0
DHRS7C	201140	broad.mit.edu	37	17	9694527	9694527	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:9694527C>T	uc010vvb.2	-	0	88	c.75G>A	c.(73-75)gaG>gaA	p.E25E	DHRS7C_uc010cof.3_Silent_p.E25E	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	25						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GCCTGGACACCTCTTGGTAAA	0.557000														21			9		0	0	0.004482	0	0
AAK1	22848	broad.mit.edu	37	2	69754441	69754441	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:69754441C>T	uc002sfp.2	-	8	1387	c.882G>A	c.(880-882)ttG>ttA	p.L294L	AAK1_uc010fdk.2_Silent_p.L294L|AAK1_uc010yqm.1_Silent_p.L294L	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	294	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GGTCTGGTTCCAACATATACC	0.393000														11			8		0	0	0.004482	0	0
C12orf50	160419	broad.mit.edu	37	12	88379629	88379629	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:88379629G>T	uc001tam.1	-	10	1292	c.1124C>A	c.(1123-1125)cCa>cAa	p.P375Q	C12orf50_uc001tan.3_Missense_Mutation_p.P390Q	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	375										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GACCTCACCTGGACTGAGGTT	0.502000														43			17		6.94344e-10	9.17488e-10	0.006122	1	0
PRB1	5542	broad.mit.edu	37	12	11506270	11506270	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:11506270G>A	uc001qzw.1	-	3	801	c.764C>T	c.(763-765)cCt>cTt	p.P255L	PRB1_uc001qzu.1_Missense_Mutation_p.P123L|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	317	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTCCTGGAGGTGGGGGACC	0.617000														146			103		0	0	0.003610	0	0
TAP1	6890	broad.mit.edu	37	6	32816878	32816878	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:32816878C>T	uc003ocg.3	-	5	1601	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	TAP1_uc011dqi.2_Silent_p.L221L	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	482	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TTCCCACTTTCAGCAGCATAC	0.478000														11			7		0	0	0.003080	0	0
UNC13B	10497	broad.mit.edu	37	9	35390690	35390690	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:35390690G>A	uc003zwr.3	+	24	3332	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N	UNC13B_uc003zwq.3_Missense_Mutation_p.D1014N	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1014	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTTTGCCCAAGACATGAAATA	0.483000														48			17		0	0	0.004990	0	0
CCDC108	255101	broad.mit.edu	37	2	219878243	219878243	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:219878243G>A	uc002vjl.1	-	22	3928	c.3844C>T	c.(3844-3846)Ctg>Ttg	p.L1282L		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1282						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTCACCAGGATCTCCCGG	0.592000														9			12		0	0	0.001855	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178556940	178556940	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:178556940G>A	uc003mjw.3	-	15	2552	c.2450C>T	c.(2449-2451)aCc>aTc	p.T817I		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	817	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACCAGAACGGTGATGGTGCC	0.662000														32			19		0	0	0.001523	0	0
LCA5L	150082	broad.mit.edu	37	21	40795010	40795010	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr21:40795010C>T	uc002yxu.3	-	4	1042	c.729G>A	c.(727-729)caG>caA	p.Q243Q	LCA5L_uc002yxv.3_Silent_p.Q243Q|LCA5L_uc021wji.1_Silent_p.Q105Q|LCA5L_uc002yxw.2_Silent_p.Q243Q|LCA5L_uc002yxy.3_Non-coding_Transcript	NM_152505	NP_689718	O95447	LCA5L_HUMAN	Homo sapiens Leber congenital amaurosis 5-like (LCA5L), mRNA.	243										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TCTGCAGTGCCTGCAAGATAT	0.368000														72			30		0	0	0.002836	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522566	96522566	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:96522566C>T	uc010qnz.2	+	0	104	c.104C>T	c.(103-105)cCt>cTt	p.P35L	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	35					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGCCCTACTCCTCTCCCAGTG	0.453000														43			35		0	0	0.002836	0	0
ZNF793	390927	broad.mit.edu	37	19	38028516	38028516	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:38028516C>T	uc010efm.3	+	7	1398	c.956C>T	c.(955-957)tCg>tTg	p.S319L	ZNF793_uc010xts.2_Missense_Mutation_p.S319L	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCGGGAAATCGTTTGGTGAG	0.453000														17			9		0	0	0.006214	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547696	9547696	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:9547696G>A	uc003bry.3	-	2	884	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					TCTGTTTGCCGGTTGCCCAGC	0.652000														70			59		0	0	0.003610	0	0
ZNF208	7757	broad.mit.edu	37	19	22156833	22156833	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:22156833G>A	uc021urr.1	-	3	1152	c.1003C>T	c.(1003-1005)Cat>Tat	p.H335Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCCAGCATGAATTGCCTTA	0.393000														15			17		0	0	0.007413	0	0
DUSP7	1849	broad.mit.edu	37	3	52088047	52088047	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:52088047G>A	uc003dct.3	-	1	940	c.861C>T	c.(859-861)caC>caT	p.H287H	DUSP7_uc010hma.2_Silent_p.H287H	NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	287					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTCGCCGCCGTGCTCGAAGG	0.567000														87			55		0	0	0.003610	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79092798	79092798	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:79092798G>A	uc002bej.4	-	1	403	c.192C>T	c.(190-192)ccC>ccT	p.P64P	ADAMTS7_uc010und.1_Silent_p.P64P|ADAMTS7_uc002bek.1_Silent_p.P64P	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	64					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGTGCGCGGGGCCACAGCT	0.687000														16			6		0	0	0.001984	0	0
BAI3	577	broad.mit.edu	37	6	69772901	69772902	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:69772901_69772902GG>AA	uc010kak.3	+	14	2685_2686	c.2409_2410GG>AA	c.(2407-2412)ctggag>ctAAag	p.E804K	BAI3_uc003pev.4_Missense_Mutation_p.E804K	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	804					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATTCGTTTCTGGAGATAGAACT	0.361000														7			5		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179442202	179442202	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:179442202C>T	uc021vsy.1	-	272	61381	c.61156G>A	c.(61156-61158)Gat>Aat	p.D20386N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D14081N|TTN_uc021vta.1_Missense_Mutation_p.D14014N|TTN_uc021vtb.1_Missense_Mutation_p.D13889N|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21313	Fibronectin type-III 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTAGCCCATCTTTTATTGTG	0.363000														22			15		0	0	0.003163	0	0
LPA	4018	broad.mit.edu	37	6	161071426	161071426	+	Silent	SNP	A	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:161071426A>G	uc003qtl.3	-	2	273	c.153T>C	c.(151-153)gcT>gcC	p.A51A		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	2559	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAGATGACCAAGCTTGGCAGG	0.458000														82			47		0	0	0.003610	0	0
FER1L6	654463	broad.mit.edu	37	8	125076656	125076656	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:125076656G>C	uc003yqw.3	+	25	3603	c.3397G>C	c.(3397-3399)Gat>Cat	p.D1133H	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1133						integral to membrane		p.D1133N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCCCCCAGCAGATCACATTTA	0.572000														149			46		0	0	0.003610	0	0
OR6T1	219874	broad.mit.edu	37	11	123814355	123814355	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:123814355C>T	uc010sab.2	-	0	191	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	64			R -> W (in dbSNP:rs6590021).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R64W(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GGAGAAATTCCGCAGGAAGAA	0.488000														49			29		0	0	0.006320	0	0
MTMR4	9110	broad.mit.edu	37	17	56573598	56573598	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:56573598G>A	uc002iwj.2	-	15	2015	c.1905C>T	c.(1903-1905)aaC>aaT	p.N635N		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	635						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGACAGTGGTTATTCAGGT	0.527000														36			23		0	0	0.001882	0	0
ATF6	22926	broad.mit.edu	37	1	161736198	161736198	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:161736198C>T	uc001gbs.3	+	0	165	c.48C>T	c.(46-48)agC>agT	p.S16S	ATF6_uc001gbq.2_Silent_p.S16S	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	16	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CACCTTTTAGCCCGGGACTCT	0.567000														53			19		0	0	0.001216	0	0
MYH2	4620	broad.mit.edu	37	17	10435093	10435093	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:10435093C>T	uc010coi.3	-	21	2682	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E852K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	852					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTCCTTCTCAGTTTCTGCA	0.428000														46			33		0	0	0.005524	0	0
LARP1	23367	broad.mit.edu	37	5	154181850	154181850	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:154181850C>T	uc003lvo.3	+	10	1793	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L	LARP1_uc021ygh.1_Missense_Mutation_p.S462L|LARP1_uc021ygi.1_Missense_Mutation_p.S667L|LARP1_uc010jie.1_Missense_Mutation_p.S462L	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	667							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACCACACCTCGCGTGCCAAG	0.542000														67			27		0	0	0.007291	0	0
CHTF18	63922	broad.mit.edu	37	16	840372	840372	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:840372C>T	uc002ckf.4	+	4	872	c.809C>T	c.(808-810)gCc>gTc	p.A270V	RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Silent_p.G247G|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.A242V|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	242					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CTTCAGGAGGCCCAGAAGCTT	0.657000														14			11		0	0	0.000673	0	0
VPS39	23339	broad.mit.edu	37	15	42456603	42456603	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:42456603G>A	uc001zpd.3	-	19	2163	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	VPS39_uc001zpc.3_Missense_Mutation_p.S660F|VPS39_uc001zpb.3_Missense_Mutation_p.S6F	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	671					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ATAGTAGCTGGAAATCTCCAA	0.517000														22			18		0	0	0.004990	0	0
USP9X	8239	broad.mit.edu	37	X	40982969	40982969	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:40982969C>T	uc004dfb.3	+	1	721	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	USP9X_uc004dfc.3_Nonsense_Mutation_p.Q30*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	30					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCCCCTCCAACAGAATCAGGT	0.557000														3			8		0	0	0.003080	0	0
FAM135B	51059	broad.mit.edu	37	8	139189619	139189619	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:139189619T>G	uc003yuy.3	-	10	1245	c.1074A>C	c.(1072-1074)aaA>aaC	p.K358N	FAM135B_uc003yux.3_Missense_Mutation_p.K259N|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	358										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGACTGCAAGTTTTTGGTGCT	0.418000										HNSCC(54;0.14)				25			7		0	0	0.004482	0	0
NEU1	4758	broad.mit.edu	37	6	31828335	31828335	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:31828335C>A	uc003nxq.4	-	3	835	c.679G>T	c.(679-681)Gga>Tga	p.G227*		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	227			G -> R (in SIALIDOSIS; type 1 and juvenile type 2; catalytically inactive; retained in pre-lysosomal compartments).			cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CAGAAGACTCCGTCCCGCTCC	0.602000														598			9		0.00448238	0.00587705	0.004482	1	0
OR51L1	119682	broad.mit.edu	37	11	5020323	5020323	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:5020323T>A	uc010qyu.2	+	0	111	c.111T>A	c.(109-111)taT>taA	p.Y37*		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A36A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTTGCATATTTGGTAGCAT	0.423000														68			37		0	0	0.004289	0	0
TCF4	6925	broad.mit.edu	37	18	52927224	52927224	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr18:52927224G>A	uc002lga.3	-	13	1391	c.1331C>T	c.(1330-1332)tCa>tTa	p.S444L	TCF4_uc021ukg.1_Missense_Mutation_p.S182L|TCF4_uc021ukh.1_Missense_Mutation_p.S182L|TCF4_uc002lfw.4_Missense_Mutation_p.S182L|TCF4_uc010xdu.1_Missense_Mutation_p.S212L|TCF4_uc010xdv.1_Missense_Mutation_p.S212L|TCF4_uc021uki.1_Missense_Mutation_p.S271L|TCF4_uc002lfx.2_Missense_Mutation_p.S271L|TCF4_uc010xdw.1_Missense_Mutation_p.S212L|TCF4_uc002lfy.2_Missense_Mutation_p.S300L|TCF4_uc010xdx.1_Missense_Mutation_p.S318L|TCF4_uc021ukj.1_Missense_Mutation_p.S282L|TCF4_uc021ukk.1_Missense_Mutation_p.S282L|TCF4_uc021ukl.1_Missense_Mutation_p.S340L|TCF4_uc002lfz.2_Missense_Mutation_p.S342L|TCF4_uc010dph.1_Missense_Mutation_p.S342L|TCF4_uc010dpi.3_Missense_Mutation_p.S348L|TCF4_uc010xdy.1_Missense_Mutation_p.S318L	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	342					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGGTTTGATGAAAAGCTGTT	0.343000														49			19		0	0	0.003330	0	0
CRYBA4	1413	broad.mit.edu	37	22	27024321	27024321	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:27024321G>A	uc003acz.4	+	4	405	c.370G>A	c.(370-372)Gat>Aat	p.D124N		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	124	Beta/gamma crystallin 'Greek key' 3.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						AGAGCTGAGCGATGACTATCC	0.547000														62			40		0	0	0.006230	0	0
ARSF	416	broad.mit.edu	37	X	3007669	3007669	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:3007669G>A	uc022brz.1	+	6	1099	c.963G>A	c.(961-963)atG>atA	p.M321I	ARSF_uc004cre.2_Missense_Mutation_p.M321I|ARSF_uc004crf.2_Missense_Mutation_p.M321I	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	321						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGACTCCATGGTGGGTAAGT	0.493000														9			27		0	0	0.007291	0	0
TNRC6B	23112	broad.mit.edu	37	22	40706833	40706833	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:40706833C>T	uc011aor.2	+	16	4482	c.4271C>T	c.(4270-4272)gCc>gTc	p.A1424V	TNRC6B_uc003aym.3_Missense_Mutation_p.A620V|TNRC6B_uc003ayn.4_Missense_Mutation_p.A1314V|TNRC6B_uc003ayo.3_Missense_Mutation_p.A1171V	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1424					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GCTATAGTGGCCCCTGGTAAA	0.463000														20			9		0	0	0.006214	0	0
MYO9A	4649	broad.mit.edu	37	15	72172075	72172075	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:72172075G>A	uc002atl.4	-	29	6199	c.5726C>T	c.(5725-5727)tCa>tTa	p.S1909L	MYO9A_uc002atk.3_Missense_Mutation_p.S704L|MYO9A_uc002atm.1_Missense_Mutation_p.S705L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1909	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAATGCAGATGAATAAAAGCT	0.353000														38			32		0	0	0.002096	0	0
CDH10	1008	broad.mit.edu	37	5	24488226	24488226	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:24488226C>T	uc003jgr.2	-	11	2419	c.1913G>A	c.(1912-1914)cGa>cAa	p.R638Q	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R638L(2)|p.R638Q(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTTTTTTTCGCTGTCTTTT	0.398000										HNSCC(23;0.051)				23			12		0	0	0.002450	0	0
TMEM106C	79022	broad.mit.edu	37	12	48361033	48361033	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:48361033G>A	uc001rqp.3	+	6	760	c.645G>A	c.(643-645)gtG>gtA	p.V215V	TMEM106C_uc001rqo.3_Silent_p.V196V|TMEM106C_uc001rqr.3_Silent_p.V215V|TMEM106C_uc001rqq.3_Silent_p.V196V	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	Homo sapiens transmembrane protein 106C (TMEM106C), transcript variant 2, mRNA.	215						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		ACAACATAGTGATCTTCATGC	0.498000														142			82		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13727702	13727702	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:13727702G>A	uc003jfd.2	-	69	11989	c.11947C>T	c.(11947-11949)Ctt>Ttt	p.L3983F	DNAH5_uc003jfc.2_Missense_Mutation_p.L151F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3983					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L3983F(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATTTGGAAGAGGTTCCTCC	0.413000									Kartagener syndrome					22			11		0	0	0.000673	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457335	45457335	+	RNA	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:45457335G>A	uc001rol.3	-	0		c.1860C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CCCAAATCTGGGAGTGTTCTT	0.478000														21			15		0	0	0.003163	0	0
DNAH7	56171	broad.mit.edu	37	2	196681481	196681481	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:196681481G>A	uc002utj.4	-	50	9733	c.9632C>T	c.(9631-9633)tCc>tTc	p.S3211F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3211					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATAGGATGGAAGAATGGAT	0.413000														43			25		0	0	0.003954	0	0
PBK	55872	broad.mit.edu	37	8	27668612	27668612	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:27668612C>T	uc011lap.2	-	6	1034	c.668G>A	c.(667-669)tGg>tAg	p.W223*	ESCO2_uc010luy.1_Intron|PBK_uc003xgi.3_Nonsense_Mutation_p.W212*	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	Homo sapiens PDZ binding kinase (PBK), mRNA.	212	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TTTGGGTTTCCATGGCTCTGT	0.448000														26			12		0	0	0.001368	0	0
C7orf58	79974	broad.mit.edu	37	7	120935653	120935653	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:120935653G>A	uc003vjq.4	+	22	3475	c.3028G>A	c.(3028-3030)Gtt>Att	p.V1010I		NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	1010						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AATAAATCAGGTTTGTTCTGA	0.428000														69			28		0	0	0.001512	0	0
LAMA4	3910	broad.mit.edu	37	6	112476150	112476150	+	Splice_Site	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:112476150C>T	uc003pvu.2	-	16	2269	c.1960_splice	c.e16-1	p.A654_splice	LAMA4_uc003pvv.2_Splice_Site_p.A647_splice|LAMA4_uc003pvt.2_Splice_Site_p.A647_splice	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	654	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CACTCACCGCCTACAAAGGAA	0.388000														48			21		0	0	0.001216	0	0
NPTXR	23467	broad.mit.edu	37	22	39219170	39219170	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr22:39219170C>T	uc003awk.3	-	3	1350	c.1196G>A	c.(1195-1197)gGg>gAg	p.G399E		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	399	Pentaxin.					integral to membrane	metal ion binding	p.G399G(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CTGCAGCTCCCCGTCCTGGTA	0.622000														55			24		0	0	0.003330	0	0
OR2B6	26212	broad.mit.edu	37	6	27925897	27925897	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:27925897G>A	uc011dkx.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATACACTTAGGAACAAGGAGG	0.393000														29			17		0	0	0.004007	0	0
PAOX	196743	broad.mit.edu	37	10	135197568	135197568	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:135197568C>T	uc001lmv.3	+	3	1053	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	PAOX_uc001lmx.3_Silent_p.L325L|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Intron|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	463					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		CAAAATCTTCCTGGAGTTTGA	0.562000														62			37		0	0	0.006230	0	0
C3orf67	200844	broad.mit.edu	37	3	58899555	58899555	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:58899555G>A	uc003dkt.1	-	5	463	c.54C>T	c.(52-54)acC>acT	p.T18T	AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Intron|C3orf67_uc011bfg.1_Non-coding_Transcript	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	18								p.T18S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ATATTTCACTGGTGAATGCTA	0.388000														12			14		0	0	0.002450	0	0
TELO2	9894	broad.mit.edu	37	16	1544344	1544344	+	Missense_Mutation	SNP	C	T	T	rs146786272	by1000genomes	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:1544344C>T	uc002cly.3	+	1	353	c.62C>T	c.(61-63)tCt>tTt	p.S21F	TELO2_uc010uvg.1_Missense_Mutation_p.S21F	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	21						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCCCTCTCGTCTTCGGAGGAT	0.622000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			50		0	0	0.003610	0	0
CALR	811	broad.mit.edu	37	19	13054393	13054393	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:13054393G>A	uc002mvu.2	+	7	1083	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	335	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of DNA replication|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of phagocytosis|post-translational protein modification|protein N-linked glycosylation via asparagine|protein export from nucleus|protein maturation by protein folding|protein stabilization|regulation of apoptosis|sequestering of calcium ion	MHC class I peptide loading complex|cytosol|endoplasmic reticulum lumen|extracellular space|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	DNA binding|androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATCACCAACGATGAGGCATA	0.577000														34			22		0	0	0.003330	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13919908	13919908	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:13919908G>A	uc002mxh.1	+	4	1075	c.886G>A	c.(886-888)Gac>Aac	p.D296N	ZSWIM4_uc010xng.1_Missense_Mutation_p.D102N	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	296							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCGAATGCGGGACTCCAACGG	0.721000														41			18		0	0	0.007413	0	0
OSGIN2	734	broad.mit.edu	37	8	90937126	90937126	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:90937126G>A	uc003yeh.3	+	5	1276	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	OSGIN2_uc003yeg.3_Missense_Mutation_p.G295E	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	295					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATAAACAAAGGAAAGTTGCGT	0.443000														37			31		0	0	0.003271	0	0
SORBS2	8470	broad.mit.edu	37	4	186545434	186545434	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:186545434G>A	uc003iyg.3	-	12	1511	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.I479I|SORBS2_uc003iyl.3_Silent_p.I379I|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.I283I|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	379						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCCGGGATTTGATTTTGGGAG	0.537000														34			26		0	0	0.004656	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094904	139094904	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:139094904C>T	uc003qie.3	+	0	248	c.93C>T	c.(91-93)ttC>ttT	p.F31F	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	31										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TACGTCACTTCCGTAAACAAA	0.642000														108			92		0	0	0.003610	0	0
OR51L1	119682	broad.mit.edu	37	11	5020909	5020909	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:5020909C>T	uc010qyu.2	+	0	697	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTGCATCTCGTGAAGAGCA	0.418000														24			11		0	0	0.000673	0	0
DL492607	0	broad.mit.edu	37	11	113661574	113661574	+	RNA	SNP	G	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:113661574G>T	uc001pof.1	+	0		c.1622G>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		CATTCCTTTAGTTTAGAGCTG	0.517000														23			20		1.64113e-05	2.15845e-05	0.001523	1	0
MYH6	4624	broad.mit.edu	37	14	23868084	23868084	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:23868084G>A	uc001wjv.3	-	14	1815	c.1744C>T	c.(1744-1746)Cac>Tac	p.H582Y		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	582	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.I581M(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCGGCGTAGTGGATCAGGGAG	0.542000														41			17		0	0	0.007413	0	0
TXNDC5	81567	broad.mit.edu	37	6	7886236	7886236	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr6:7886236G>A	uc003mxv.3	-	7	1042	c.1004C>T	c.(1003-1005)aCc>aTc	p.T335I	TXNDC5_uc003mxw.3_Missense_Mutation_p.T292I|TXNDC5_uc010jnz.3_Missense_Mutation_p.T227I	NM_030810	NP_001139021	Q8NBS9	TXND5_HUMAN	Homo sapiens thioredoxin domain containing 5 (endoplasmic reticulum) (TXNDC5), transcript variant 1, mRNA.	335	Thioredoxin 3.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TTCTGCAATGGTGTCATCGAA	0.418000														21			16		0	0	0.004990	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529829	5529829	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:5529829C>T	uc021qcw.1	-	0	960	c.960G>A	c.(958-960)caG>caA	p.Q320Q	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.Q320Q	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	320										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)		GATCCCCATCCTGCCTTCCTT	0.512000														41			27		0	0	0.003954	0	0
OR4N4	283694	broad.mit.edu	37	15	22382814	22382814	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:22382814C>T	uc001yuc.1	+	6	1323	c.342C>T	c.(340-342)ctC>ctT	p.L114L	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.L114L	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGGGATTACTCCTTGTTGTGA	0.507000														66			24		0	0	0.001786	0	0
MIPOL1	145282	broad.mit.edu	37	14	38016170	38016170	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:38016170G>A	uc001wud.3	+	14	1965	c.1323G>A	c.(1321-1323)gtG>gtA	p.V441V	MIPOL1_uc010ams.3_Silent_p.V441V|MIPOL1_uc001wuc.3_Silent_p.V441V|MIPOL1_uc001wue.3_Silent_p.V410V|MIPOL1_uc010amt.3_Silent_p.V260V	NM_001195297	NP_001182226	Q8TD10	MIPO1_HUMAN	Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA.	441										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TGAGGACAGTGATCTGATTGA	0.478000														23			13		0	0	0.002450	0	0
EPAS1	2034	broad.mit.edu	37	2	46611754	46611754	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:46611754C>T	uc002ruv.3	+	15	3078	c.2568C>T	c.(2566-2568)ctC>ctT	p.L856L	EPAS1_uc002ruw.3_Silent_p.L322L	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	856	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.T855T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCTCCACGCTCCTGCAAGGAG	0.642000														27			20		0	0	0.007413	0	0
PLAG1	5324	broad.mit.edu	37	8	57079469	57079469	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr8:57079469G>A	uc003xsq.4	-	2	1287	c.836C>T	c.(835-837)tCa>tTa	p.S279L	PLAG1_uc003xsr.4_Missense_Mutation_p.S279L|PLAG1_uc010lyi.3_Missense_Mutation_p.S279L|PLAG1_uc010lyj.3_Missense_Mutation_p.S197L|PLAG1_uc022aur.1_Missense_Mutation_p.S197L	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	279	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GAATGGCTTTGATAACAGTTC	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									67			35		0	0	0.003271	0	0
GPC3	2719	broad.mit.edu	37	X	132670163	132670163	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:132670163G>A	uc010nrn.2	-	8	1998	c.1801C>T	c.(1801-1803)Ctg>Ttg	p.L601L	GPC3_uc004exe.2_Silent_p.L578L|GPC3_uc011mvh.2_Silent_p.L562L|GPC3_uc010nro.2_Silent_p.L524L	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	578						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CAGTGCACCAGGAAGAAGAAG	0.507000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					9			30		0	0	0.002445	0	0
NME3	4832	broad.mit.edu	37	16	1821167	1821168	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr16:1821167_1821168GG>AA	uc002cmm.3	-	2	357_358	c.182_183CC>TT	c.(181-183)tcc>tTT	p.S61F	NME3_uc010brv.3_Non-coding_Transcript|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_002513	NP_002504	Q13232	NDK3_HUMAN	Homo sapiens non-metastatic cells 3, protein expressed in (NME3), mRNA.	61					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|apoptosis|induction of apoptosis		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			lung(1)	1						GCAGCTCCTCGGAGGCCTGCGG	0.718000														10			9		0	0	0.004672	0	0
DCHS2	54798	broad.mit.edu	37	4	155225908	155225908	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:155225908C>T	uc003inw.2	-	16	4153	c.4153G>A	c.(4153-4155)Gaa>Aaa	p.E1385K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1385	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTGGTTTTCCAGAACCTCA	0.418000														18			9		0	0	0.006214	0	0
SCN3A	6328	broad.mit.edu	37	2	166032661	166032661	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:166032661G>A	uc002ucx.3	-	2	736	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S	SCN3A_uc002ucy.3_Missense_Mutation_p.P82S|SCN3A_uc002ucz.3_Missense_Mutation_p.P82S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	82						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATATAGTAGGGATCCAGGTCC	0.373000														36			21		0	0	0.001882	0	0
DUSP27	92235	broad.mit.edu	37	1	167097296	167097296	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:167097296C>T	uc001geb.1	+	4	2944	c.2928C>T	c.(2926-2928)tcC>tcT	p.S976S		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	976	Ser-rich.				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						CTAAATCCTCCAGTTACAAGT	0.498000														44			12		0	0	0.002450	0	0
CDS1	1040	broad.mit.edu	37	4	85562137	85562137	+	Silent	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr4:85562137G>A	uc011ccv.2	+	9	1524	c.1026G>A	c.(1024-1026)ttG>ttA	p.L342L	CDS1_uc010ike.1_Silent_p.L146L	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	342					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		AGGCAGTCTTGAGACAGGTAC	0.348000														32			28		0	0	0.006320	0	0
AIM2	9447	broad.mit.edu	37	1	159033362	159033362	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:159033362C>T	uc001ftj.1	-	4	1164	c.919G>A	c.(919-921)Gga>Aga	p.G307R		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	307	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ACCTTATCTCCTTCCTTACAT	0.388000														85			49		0	0	0.003610	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478301	42478301	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:42478301G>A	uc002igw.2	-	7	1363	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	GPATCH8_uc002igv.2_Nonsense_Mutation_p.R304*|GPATCH8_uc010wiz.2_Nonsense_Mutation_p.R304*	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	382						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CCTTCTTCTCGTTTCATCCTT	0.438000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			29		0	0	0.006320	0	0
SCN10A	6336	broad.mit.edu	37	3	38743483	38743483	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr3:38743483C>T	uc003ciq.3	-	25	4504	c.4504G>A	c.(4504-4506)Gaa>Aaa	p.E1502K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1502					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCTTTTCTTCACTTTGGTCA	0.448000														35			16		0	0	0.004990	0	0
OR10S1	219873	broad.mit.edu	37	11	123848357	123848357	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:123848357C>T	uc001pzm.1	-	0	42	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGGTTCTCCGTTGTCATGG	0.478000														51			31		0	0	0.002445	0	0
GRID1	2894	broad.mit.edu	37	10	87482774	87482774	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr10:87482774C>T	uc001kdl.1	-	11	2084	c.1983G>A	c.(1981-1983)atG>atA	p.M661I	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.M232I	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	661						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGGGGTTGTCCATCCTGGACA	0.537000										Multiple Myeloma(13;0.14)				26			10		0	0	0.006214	0	0
C9orf50	375759	broad.mit.edu	37	9	132377787	132377787	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:132377787G>A	uc004byc.4	-	3	1058	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	C9orf50_uc022boo.1_Missense_Mutation_p.R285C	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA.	286										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TCCCAGTAGCGGAGCGTTGTG	0.647000														38			20		0	0	0.001216	0	0
DNAH5	1767	broad.mit.edu	37	5	13762974	13762974	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:13762974C>T	uc003jfd.2	-	59	10180	c.10138G>A	c.(10138-10140)Gaa>Aaa	p.E3380K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3380	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCAAAAATTCTATCACCTCT	0.363000									Kartagener syndrome					25			14		0	0	0.002450	0	0
FAM47A	158724	broad.mit.edu	37	X	34148220	34148220	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chrX:34148220C>T	uc004ddg.3	-	0	2228	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	726										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACGTCAGGTTCATCAGGCTTT	0.418000														15			41		0	0	0.001951	0	0
METTL20	254013	broad.mit.edu	37	12	31814890	31814890	+	Missense_Mutation	SNP	G	A	A	rs143259576		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:31814890G>A	uc009zjr.3	+	1	212	c.3G>A	c.(1-3)atG>atA	p.M1I	METTL20_uc001rkl.3_Missense_Mutation_p.M1I|METTL20_uc001rkm.3_Missense_Mutation_p.M1I	NM_001135864	NP_776163	Q8IXQ9	MET20_HUMAN	Homo sapiens methyltransferase like 20 (METTL20), transcript variant 3, mRNA.	1						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						AAGGACTGATGGCTTTGAGTC	0.488000														115			47		0	0	0.003610	0	0
KLF14	136259	broad.mit.edu	37	7	130418365	130418365	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr7:130418365A>G	uc003vqk.2	-	0	524	c.496T>C	c.(496-498)Ttc>Ctc	p.F166L		NM_138693	NP_619638	Q8TD94	KLF14_HUMAN	Homo sapiens Kruppel-like factor 14 (KLF14), mRNA.	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					CCTCCAGAGAACCCACCAGAG	0.756000														116			49		0	0	0.003610	0	0
OR13C3	138803	broad.mit.edu	37	9	107298321	107298321	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr9:107298321C>T	uc004bcb.1	-	0	774	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGGCTGAATTCATTTGCAAGA	0.413000														42			28		0	0	0.001512	0	0
KAT7	11143	broad.mit.edu	37	17	47904136	47904136	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:47904136G>A	uc002ipm.3	+	13	1925	c.1709G>A	c.(1708-1710)gGa>gAa	p.G570E	KAT7_uc002ipl.2_Missense_Mutation_p.G540E|KAT7_uc010wma.2_Missense_Mutation_p.G431E|KAT7_uc010wmb.2_Missense_Mutation_p.G460E|KAT7_uc010wmc.2_Missense_Mutation_p.G401E|KAT7_uc010wmd.2_Missense_Mutation_p.G414E|KAT7_uc010wme.2_Missense_Mutation_p.G384E|KAT7_uc010wmf.2_Missense_Mutation_p.G235E|KAT7_uc010wmg.2_Missense_Mutation_p.G125E	NM_007067	NP_008998	O95251	MYST2_HUMAN	Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA.	570					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TACTGGAAGGGAAAACACCTA	0.458000														37			18		0	0	0.001216	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167424	140167424	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:140167424G>A	uc003lhb.2	+	0	1549	c.1549G>A	c.(1549-1551)Gtg>Atg	p.V517M	PCDHAC2_uc003lha.2_Missense_Mutation_p.V517M|PCDHAC2_uc003lgz.3_Missense_Mutation_p.V517M	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	531	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGGCAAGGTGTACGCACT	0.687000														94			38		0	0	0.006230	0	0
ZNF607	84775	broad.mit.edu	37	19	38190505	38190505	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:38190505C>T	uc002ohc.2	-	4	1123	c.527G>A	c.(526-528)gGg>gAg	p.G176E	ZNF607_uc002ohb.2_Missense_Mutation_p.G175E	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAAGACCTTCCCACATTCTTC	0.398000														47			34		0	0	0.002445	0	0
VAT1	10493	broad.mit.edu	37	17	41168464	41168464	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:41168464T>C	uc002icm.1	-	4	1078	c.958A>G	c.(958-960)Aac>Gac	p.N320D	VAT1_uc010cyw.1_Missense_Mutation_p.N186D|VAT1_uc010whk.1_Missense_Mutation_p.N252D	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	320						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACAGCCCGGTTGGCCTGCAGC	0.637000														39			13		0	0	0.001855	0	0
KLK14	43847	broad.mit.edu	37	19	51582855	51582855	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:51582855C>T	uc021uyk.1	-	4	584	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	KLK14_uc002pvs.1_Missense_Mutation_p.R122Q	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	122	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GTCGTGGGTCCGGGAGTTGTA	0.657000														16			10		0	0	0.001368	0	0
MAST4	375449	broad.mit.edu	37	5	66462170	66462170	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr5:66462170A>C	uc021xzk.1	+	28	7471	c.7163A>C	c.(7162-7164)gAg>gCg	p.E2388A	MAST4_uc003jut.2_Missense_Mutation_p.E2199A|MAST4_uc003juw.3_Missense_Mutation_p.E2127A|MAST4_uc003jux.3_Intron	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2391						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GACAAGCTCGAGGCCGGCCTT	0.632000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			6		0	0	0.001168	0	0
IKBKE	9641	broad.mit.edu	37	1	206653816	206653816	+	Missense_Mutation	SNP	G	A	A	rs149600695		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:206653816G>A	uc001hdz.2	+	12	1945	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q	IKBKE_uc001hea.2_Missense_Mutation_p.R371Q|IKBKE_uc009xbv.2_Missense_Mutation_p.R456Q	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	456	Leucine-zipper.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ACATGCAGACGGACTCTGGAA	0.622000														26			10		0	0	0.001368	0	0
LOC642846	642846	broad.mit.edu	37	12	9464385	9464385	+	RNA	SNP	G	A	A			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:9464385G>A	uc001qvp.2	+	13		c.1240G>A			LOC642846_uc010sgp.1_Intron					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		GTGGTTGGAGGAAAGATGAGT	0.562000														59			28		0	0	0.006320	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770039	15770039	+	Silent	SNP	C	T	T			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr19:15770039C>T	uc010xok.2	+	12	1457	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	CYP4F3_uc010xol.2_Silent_p.I469I|CYP4F3_uc002nbj.3_Silent_p.I469I|CYP4F3_uc010xom.2_Silent_p.I320I|CYP4F3_uc002nbk.3_Silent_p.I469I|CYP4F3_uc010xon.2_Silent_p.I179I	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	469					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGAACTGCATCGGGCAGGCGT	0.672000														16			6		0	0	0.006214	0	0
ACOX1	51	broad.mit.edu	37	17	73945303	73945304	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:73945303_73945304GG>AA	uc002jqe.3	-	11	2083_2084	c.1722_1723CC>TT	c.(1720-1725)ttcctt>ttTTtt	p.L575F	ACOX1_uc010wsq.2_Missense_Mutation_p.L537F|ACOX1_uc010wsr.2_Missense_Mutation_p.L507F|ACOX1_uc002jqf.3_Missense_Mutation_p.L575F	NM_004035	NP_001171968	Q15067	ACOX1_HUMAN	Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA.	575					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CTGACCTGAAGGAAATCCCCCG	0.391000														73			43		0	0	0.004672	0	0
F13B	2165	broad.mit.edu	37	1	197032122	197032122	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr1:197032122delT	uc001gtt.1	-	1	174	c.130delA	c.(130-132)agcfs	p.S44fs		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	44	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AAGTAAAAGCTTTTAAAAGTA	0.358													---	64	---	---	54	---					
STK39	27347	broad.mit.edu	37	2	169103872	169103892	+	In_Frame_Del	DEL	GCCGCCGCCGCTGTCACCGGG	-	-			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr2:169103872_169103892delGCCGCCGCCGCTGTCACCGGG	uc002uea.3	-	0	214_234	c.54_74delCCCGGTGACAGCGGCGGCGGC	c.(52-75)gccccggtgacagcggcggcggcg>gcg	p.18_25APVTAAAA>A		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	Homo sapiens serine threonine kinase 39 (STK39), mRNA.	18	Ala/Pro-rich.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						cggggccgccgccgccgccgctgtcaccggggccgccTGCT	0.814													---	5	---	---	3	---					
MS4A2	2206	broad.mit.edu	37	11	59857807	59857815	+	Splice_Site	DEL	AGGTAACAC	-	-			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr11:59857807_59857815delAGGTAACAC	uc001nop.3	+	3	289	c.187_splice	c.e3-1	p.V63_splice	MS4A2_uc009ymu.3_Splice_Site_p.V63_splice|MS4A2_uc021qka.1_Intron	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	63					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	GTTTTTCTATAGGTAACACAAATTCTGAC	0.321													---	89	---	---	15	---					
ARL6IP4	51329	broad.mit.edu	37	12	123466293	123466295	+	In_Frame_Del	DEL	GAA	-	-			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr12:123466293_123466295delGAA	uc001ued.3	+	2	760_762	c.705_707delGAA	c.(703-708)aggaag>agg	p.K240del	ARL6IP4_uc001uec.3_In_Frame_Del_p.K232del|ARL6IP4_uc001uee.3_In_Frame_Del_p.K221del|ARL6IP4_uc001uef.3_In_Frame_Del_p.K221del|ARL6IP4_uc001ueg.3_Non-coding_Transcript|ARL6IP4_uc009zxt.3_In_Frame_Del_p.K106del|ARL6IP4_uc001uei.3_In_Frame_Del_p.K109del	NM_018694	NP_061164	Q66PJ3	AR6P4_HUMAN	Homo sapiens ADP-ribosylation-like factor 6 interacting protein 4 (ARL6IP4), transcript variant 1, mRNA.	240	Lys-rich.				RNA splicing	nucleus						all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		acaagaggaggaagaagaagaag	0.571													---	6	---	---	3	---					
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	-	-	rs71794845		TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr14:21560753_21560758delGAGGCT	uc001vzr.2	-	2	1119_1124	c.698_703delAGCCTC	c.(697-705)cagcctcca>cca	p.QP233del	ZNF219_uc001vzs.2_In_Frame_Del_p.QP233del|ZNF219_uc010aik.1_In_Frame_Del_p.QP233del	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	Homo sapiens zinc finger protein 219 (ZNF219), transcript variant 1, mRNA.	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(6)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	3	---	---	5	---					
HSP90AB4P	664618	broad.mit.edu	37	15	58983682	58983683	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr15:58983682_58983683delAC	uc002afh.1	-	2	1137_1138	c.1137_1138delGT	c.(1135-1140)gagtatfs	p.E379fs	ADAM10_uc002afd.1_Intron|ADAM10_uc010bgc.1_Intron|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron					Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 4, pseudogene (HSP90AB4P), non-coding RNA.																		CAAGACACATACTCTGACAGAG	0.490													---	4	---	---	3	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Splice_Site	INS	-	C	C	rs148075904	by1000genomes	TCGA-ER-A198-06A-11D-A196-08	TCGA-ER-A198-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88104fc0-ddc9-49b6-b136-61dbed5a7f3d	51784866-efa0-4ea4-b68a-331c2e4f4c57	g.chr17:26684390_26684391insC	uc002haz.3	-	2	209	c.79_splice	c.e2-1	p.P27_splice	POLDIP2_uc010wag.2_Non-coding_Transcript|TMEM199_uc002hba.3_5'Flank|TMEM199_uc010wah.1_5'Flank	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	27						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													---	12	---	---	7	---					
