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
CLCNKA	1188	broad.mit.edu	37	1	16378751	16378751	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:16378751C>T	uc001axx.4	+	14	1603	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	CLCNKA_uc021ogl.1_Silent_p.F136F|CLCNKA_uc021ogm.1_Silent_p.F320F|CLCNKA_uc001axy.4_Silent_p.F320F	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	489					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGCTGGCCTTCGAGGTGACCG	0.657												
KLF17	128209	broad.mit.edu	37	1	44595217	44595217	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:44595217C>T	uc001clp.3	+	1	332	c.274C>T	c.(274-276)Cca>Tca	p.P92S	KLF17_uc009vxf.1_Missense_Mutation_p.P55S	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	92					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTTCAGTATGCCACTGCCTGA	0.567												
TESK2	10420	broad.mit.edu	37	1	45923297	45923297	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:45923297G>A	uc001cns.1	-	1	564	c.161C>T	c.(160-162)aCg>aTg	p.T54M	TESK2_uc009vxr.1_Missense_Mutation_p.T54M|TESK2_uc010olo.1_Intron|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Missense_Mutation_p.T54M	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	54					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					ATCCAAACGCGTCAGTCTGGA	0.453												
AP4B1	10717	broad.mit.edu	37	1	114438528	114438528	+	Missense_Mutation	SNP	G	G	A	rs149723440		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:114438528G>A	uc001eeb.3	-	8	1829	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Missense_Mutation_p.P380L|AP4B1_uc010owp.2_Missense_Mutation_p.P449L|AP4B1_uc001eed.3_Missense_Mutation_p.P548L|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Missense_Mutation_p.P75L	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	548					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.P548P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTTCTGCCGGATCCTCCAA	0.498												
SPTA1	6708	broad.mit.edu	37	1	158653172	158653172	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:158653172C>G	uc001fst.1	-	2	578	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	127				Missing (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCGTTTCTTCGTGGGCAGAA	0.388												
ANGPTL1	9068	broad.mit.edu	37	1	178834371	178834371	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:178834371A>G	uc001gma.3	-	2	1017	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.S181P|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S103P	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	181						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCAGTCAAGGAAGCGTATTTC	0.423												
OBSCN	84033	broad.mit.edu	37	1	228431145	228431145	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:228431145G>T	uc009xez.1	+	9	3235	c.3191G>T	c.(3190-3192)cGc>cTc	p.R1064L	OBSCN_uc001hsn.3_Missense_Mutation_p.R1064L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1064	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			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)				GTCTCCTTCCGCCTGCACATC	0.552												
OBSCN	84033	broad.mit.edu	37	1	228557713	228557713	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:228557713G>A	uc009xez.1	+	90	20082	c.20038G>A	c.(20038-20040)Gtg>Atg	p.V6680M	OBSCN_uc001hsr.1_Missense_Mutation_p.V1309M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6680	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			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)				GGAGGGGCGCGTGTCATGGAG	0.642												
LYST	1130	broad.mit.edu	37	1	235938388	235938388	+	Splice_Site	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:235938388T>A	uc001hxj.2	-	18	5636	c.5461_splice	c.e18-1	p.V1821_splice	LYST_uc009xgb.1_Splice_Site|LYST_uc010pxs.1_Splice_Site	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1821					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCAACAACCTAAAAAAAAAA	0.313												
CHRM3	1131	broad.mit.edu	37	1	240072235	240072235	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:240072235C>T	uc021plc.1	+	0	1484	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	CHRM3_uc001hyp.3_Missense_Mutation_p.A495V	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	495					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCCTCAGTGCGATCTTGCTT	0.493												
HNRNPU	3192	broad.mit.edu	37	1	245022048	245022050	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:245022048_245022050delCAT	uc001iaz.1	-	5	1429_1431	c.1211_1213delATG	c.(1210-1215)gatgtg>gtg	p.D404del	HNRNPU_uc001iay.1_In_Frame_Del_p.D128del|HNRNPU_uc001iba.1_In_Frame_Del_p.D385del	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	404	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CATGTAATCACATCATTTTCATC	0.310												
PRKCQ	5588	broad.mit.edu	37	10	6553040	6553040	+	Missense_Mutation	SNP	C	C	T	rs148376969		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:6553040C>T	uc001iji.1	-	1	418	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	PRKCQ_uc001ijj.2_Missense_Mutation_p.V79M|PRKCQ_uc009xim.2_Missense_Mutation_p.V79M|PRKCQ_uc009xin.2_Missense_Mutation_p.V43M|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	79	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.Q112E(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATGAGGTCCACGTTTTTGCCT	0.478												
USP6NL	9712	broad.mit.edu	37	10	11505268	11505268	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:11505268G>A	uc001iks.1	-	13	1753	c.1710C>T	c.(1708-1710)aaC>aaT	p.N570N	USP6NL_uc001ikt.3_Silent_p.N553N	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	553						intracellular	Rab GTPase activator activity	p.N570N(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGCCTGGCACGTTGTCGTACT	0.662												
PPP3CB	5532	broad.mit.edu	37	10	75204531	75204531	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:75204531T>A	uc001juf.3	-	11	1456	c.1321A>T	c.(1321-1323)Atg>Ttg	p.M441L	PPP3CB_uc001jue.3_Missense_Mutation_p.M440L|PPP3CB_uc001jug.3_Missense_Mutation_p.M441L|PPP3CB_uc001juh.2_Missense_Mutation_p.M355L|PPP3CB_uc001jui.2_Missense_Mutation_p.M458L|PPP3CB_uc010qkj.2_Missense_Mutation_p.M68L	NM_001142353	NP_001135825	P16298	PP2BB_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, beta isozyme (PPP3CB), transcript variant 1, mRNA.	440										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CTAGGCAACATCCCTGTGGGA	0.483												
PTEN	5728	broad.mit.edu	37	10	89692922	89692922	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:89692922T>C	uc001kfb.3	+	4	1438	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C136R(9)|p.C136Y(8)|p.I135fs*44(6)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTAATGATATGTGCATATTT	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
MMP21	118856	broad.mit.edu	37	10	127456157	127456157	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:127456157C>G	uc001liu.3	-	5	1354	c.1354G>C	c.(1354-1356)Gac>Cac	p.D452H		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	452	Hemopexin-like 3.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACGCCGTGTCTAGGGGACTT	0.443												
OR52E6	390078	broad.mit.edu	37	11	5862602	5862602	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:5862602T>G	uc010qzq.2	-	0	526	c.526A>C	c.(526-528)Atc>Ctc	p.I176L	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	176					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)		GTATGAGGGATGATACGATGT	0.483												
CD44	960	broad.mit.edu	37	11	35232846	35232846	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:35232846A>G	uc001mvu.3	+	13	2094	c.1660A>G	c.(1660-1662)Act>Gct	p.T554A	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Missense_Mutation_p.T511A|CD44_uc001mvw.3_Missense_Mutation_p.T305A|CD44_uc001mwc.4_Missense_Mutation_p.T241A|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Missense_Mutation_p.T82A|CD44_uc010res.2_Missense_Mutation_p.T118A|CD44_uc010ret.2_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	554	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TGAAGGCTCAACTACTTTACT	0.463												
SLC22A9	114571	broad.mit.edu	37	11	63149746	63149746	+	Missense_Mutation	SNP	C	C	T	rs141060614		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:63149746C>T	uc001nww.3	+	5	1338	c.1070C>T	c.(1069-1071)aCg>aTg	p.T357M	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	357					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGTCCTTTACGAGGTAAGCT	0.403												
HTR3A	3359	broad.mit.edu	37	11	113853886	113853886	+	Missense_Mutation	SNP	G	G	A	rs149715642		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:113853886G>A	uc010rxb.2	+	4	670	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	HTR3A_uc010rxa.2_Missense_Mutation_p.R146Q|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.R125Q	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	140					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GTGTATATTCGGCATCAAGGC	0.542												
CACNA1C	775	broad.mit.edu	37	12	2566754	2566754	+	Silent	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:2566754A>G	uc009zdu.1	+	4	952	c.639A>G	c.(637-639)gaA>gaG	p.E213E	CACNA1C_uc001qkc.2_Silent_p.E213E|CACNA1C_uc001qjz.2_Silent_p.E213E|CACNA1C_uc001qkd.2_Silent_p.E213E|CACNA1C_uc001qke.2_Silent_p.E213E|CACNA1C_uc001qkf.2_Silent_p.E213E|CACNA1C_uc009zdw.1_Silent_p.E213E|CACNA1C_uc001qkg.2_Silent_p.E213E|CACNA1C_uc001qkh.2_Silent_p.E213E|CACNA1C_uc001qkl.2_Silent_p.E213E|CACNA1C_uc001qkj.2_Silent_p.E213E|CACNA1C_uc001qkk.2_Silent_p.E213E|CACNA1C_uc001qkn.2_Silent_p.E213E|CACNA1C_uc001qkm.2_Silent_p.E213E|CACNA1C_uc001qko.2_Silent_p.E213E|CACNA1C_uc001qkp.2_Silent_p.E213E|CACNA1C_uc001qkq.2_Silent_p.E213E|CACNA1C_uc001qku.2_Silent_p.E213E|CACNA1C_uc001qkr.2_Silent_p.E213E|CACNA1C_uc001qks.2_Silent_p.E213E|CACNA1C_uc001qkt.2_Silent_p.E213E|CACNA1C_uc009zdv.1_Silent_p.E213E|CACNA1C_uc001qkb.2_Silent_p.E213E|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	213					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)	CAATTTTAGAACAAGCAACCA	0.557												
PPFIBP1	8496	broad.mit.edu	37	12	27809558	27809558	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:27809558G>A	uc001ric.2	+	9	1176	c.799G>A	c.(799-801)Gca>Aca	p.A267T	PPFIBP1_uc010sjr.1_Missense_Mutation_p.A95T|PPFIBP1_uc001rib.2_Missense_Mutation_p.A236T|PPFIBP1_uc001ria.3_Missense_Mutation_p.A236T|PPFIBP1_uc001rid.2_Missense_Mutation_p.A114T|PPFIBP1_uc001rie.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	267					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGATGAACTGGCATCTTTAAA	0.323												
MDM2	4193	broad.mit.edu	37	12	69210697	69210697	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:69210697G>A	uc021rad.1	+						MDM2_uc001sui.3_Missense_Mutation_p.V94M|MDM2_uc009zqx.3_Missense_Mutation_p.V94M|MDM2_uc009zqy.1_Missense_Mutation_p.V83M|MDM2_uc021rae.1_Missense_Mutation_p.V83M|MDM2_uc001sun.4_Intron|MDM2_uc009zra.3_Intron|MDM2_uc009zrb.1_Non-coding_Transcript|MDM2_uc021raf.1_Intron|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_Intron|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Intron|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Intron|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Missense_Mutation_p.V58M|MDM2_uc021rai.1_Intron|MDM2_uc021raj.1_Intron			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.						cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTTGTTTGGCGTGCCAAGCTT	0.363			A		"""sarcoma, glioma, colorectal, other"""							
TPH2	121278	broad.mit.edu	37	12	72366329	72366329	+	Silent	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:72366329T>A	uc009zrw.1	+	5	780	c.639T>A	c.(637-639)acT>acA	p.T213T	TPH2_uc001swy.2_Silent_p.T123T	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	213					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGGAGTATACTGAAGAAGAAA	0.428												
MYF5	4617	broad.mit.edu	37	12	81111228	81111228	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:81111228G>A	uc001szg.2	+	0	521	c.386G>A	c.(385-387)cGc>cAc	p.R129H		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	129	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R129S(1)|p.R129C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AATGCCATCCGCTACATCGAG	0.587												
STAB2	55576	broad.mit.edu	37	12	104089589	104089589	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:104089589G>T	uc001tjw.3	+	32	3735	c.3549G>T	c.(3547-3549)gaG>gaT	p.E1183D		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1183	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGCCATCGAGAATTACATCA	0.403												
LHX5	64211	broad.mit.edu	37	12	113905175	113905175	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:113905175C>T	uc001tvj.1	-	3	1301	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	243						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCGCCTAGGGCGCTCAGCTGT	0.652												
RIMBP2	23504	broad.mit.edu	37	12	130927111	130927111	+	Silent	SNP	G	G	A	rs142303116	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:130927111G>A	uc001uil.2	-	7	951	c.735C>T	c.(733-735)aaC>aaT	p.N245N	RIMBP2_uc001uim.3_Silent_p.N153N	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	245						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GATCCTGCTCGTTCCCCAGCG	0.602												
COG6	57511	broad.mit.edu	37	13	40293942	40293942	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr13:40293942G>A	uc001uxh.2	+	14	1662	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	COG6_uc001uxi.2_Missense_Mutation_p.R469H|COG6_uc010acb.2_Missense_Mutation_p.R521H	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	521					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACTGACAGACGTCTGGAAATG	0.343												
FANCM	57697	broad.mit.edu	37	14	45657010	45657010	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr14:45657010A>G	uc001wwd.4	+	18	4798	c.4699A>G	c.(4699-4701)Aaa>Gaa	p.K1567E	FANCM_uc010anf.3_Missense_Mutation_p.K1541E|FANCM_uc001wwe.4_Missense_Mutation_p.K1103E|FANCM_uc010ang.3_Missense_Mutation_p.K781E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1567					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATTTACATGAAATCTTTGCG	0.254								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia			
TBPL2	387332	broad.mit.edu	37	14	55907173	55907173	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr14:55907173G>A	uc001xby.3	-	0	91	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	31			R -> P (in dbSNP:rs8019270).		multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TCCATGGACCGTAATCCCACT	0.657												
HERC2P3	283755	broad.mit.edu	37	15	20649487	20649487	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr15:20649487G>A	uc001ytg.3	-	17	2731	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.D674D|HERC2P3_uc010tyy.2_Silent_p.D674D					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CACCAGAGTCGTCCTCTGTGT	0.562												
EHD4	30844	broad.mit.edu	37	15	42193062	42193062	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr15:42193062G>A	uc001zot.3	-	5	1470	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	469	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592												
RAB11FIP3	9727	broad.mit.edu	37	16	553082	553082	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:553082G>A	uc002chf.3	+	6	1719	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	RAB11FIP3_uc010uuf.2_Silent_p.E164E|RAB11FIP3_uc010uug.2_Silent_p.E195E	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	460					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCCCAGAGGAGGACATTGCTG	0.622												
SCNN1G	6340	broad.mit.edu	37	16	23226531	23226531	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:23226531G>A	uc002dlm.1	+	12	1830	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	564					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.R564H(2)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATTGCCCGCCGCCAGTGGCAG	0.587												
CES1	1066	broad.mit.edu	37	16	55853460	55853460	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:55853460G>A	uc002eim.3	-	6	998	c.890C>T	c.(889-891)aCg>aTg	p.T297M	CES1_uc002eil.3_Missense_Mutation_p.T298M|CES1_uc002ein.3_Missense_Mutation_p.T297M	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	297					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TTTCAATGTCGTCTCCAAGAG	0.507												
CES4A	283848	broad.mit.edu	37	16	67040719	67040719	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:67040719G>A	uc002eqv.3	+	11	1491	c.1376_splice	c.e11+1	p.G459_splice	CES4A_uc010vix.2_Intron|CES4A_uc002eqw.3_Intron|CES4A_uc010viy.2_Intron|CES4A_uc002eqx.3_Splice_Site_p.G312_splice|CES4A_uc002eqy.3_Splice_Site_p.G408_splice	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	506						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TGCCCGCACAGGGTGAGTCTG	0.567												
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr17:38240101G>A	uc021twy.1	+	4	792	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_uc010cwp.1_Missense_Mutation_p.R79H|THRA_uc002htv.3_Missense_Mutation_p.R79H|THRA_uc002htw.3_Missense_Mutation_p.R79H|THRA_uc002htx.3_Missense_Mutation_p.R79H	NM_001190919	NP_003241	P10827	THA_HUMAN	Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	79					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R79H(3)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTTTCGCCGCACAATCCAG	0.547												
ASPSCR1	79058	broad.mit.edu	37	17	79953896	79953896	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr17:79953896C>T	uc002kcy.3	+	5	558	c.461C>T	c.(460-462)aCg>aTg	p.T154M	ASPSCR1_uc002kcx.3_Missense_Mutation_p.T154M|ASPSCR1_uc021ufj.1_Missense_Mutation_p.T77M|ASPSCR1_uc002kda.3_Missense_Mutation_p.T77M|ASPSCR1_uc002kdb.1_Missense_Mutation_p.T77M	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	154							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGCGGGGCACGACGCTGCAG	0.657			T	TFE3	alveolar soft part sarcoma							
MIB1	57534	broad.mit.edu	37	18	19345780	19345780	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr18:19345780A>G	uc002ktq.3	+	1	277	c.277A>G	c.(277-279)Atc>Gtc	p.I93V	MIB1_uc002ktp.3_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	93					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CCAGCAACCAATCATTGGCAT	0.378												
LMAN1	3998	broad.mit.edu	37	18	57022801	57022801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr18:57022801C>A	uc002lhz.3	-	1	336	c.304G>T	c.(304-306)Gag>Tag	p.E102*	LMAN1_uc010xek.1_Nonsense_Mutation_p.E102*	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	102	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCCCAGTTCTCAAAGGCCGCT	0.413												
MUM1	84939	broad.mit.edu	37	19	1357015	1357015	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:1357015C>T	uc002lrz.2	+	2	178	c.68C>T	c.(67-69)gCc>gTc	p.A23V	MUM1_uc010dsi.2_5'UTR|MUM1_uc002lsb.2_5'UTR|MUM1_uc010xgm.1_Missense_Mutation_p.A22V|MUM1_uc002lsc.1_5'Flank	NM_032853	NP_116242	Q2TAK8	MUM1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1 (MUM1), transcript variant 1, mRNA.	22					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGTTTTGGCCCGAACCGCG	0.368												
TUBB4A	10382	broad.mit.edu	37	19	6502176	6502176	+	Silent	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:6502176G>T	uc002mfg.1	-	0	155	c.48C>A	c.(46-48)atC>atA	p.I16I	TUBB4A_uc002mff.1_5'UTR	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	16					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CCTTGGCCCCGATCTGGTTGC	0.761												
CD209	30835	broad.mit.edu	37	19	7807928	7807928	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:7807928C>T	uc002mht.2	-	6	1279	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	CD209_uc010xju.1_Silent_p.A243A|CD209_uc010dvp.2_3'UTR|CD209_uc002mhr.2_Silent_p.A380A|CD209_uc002mhs.2_Silent_p.A334A|CD209_uc002mhu.2_Silent_p.A312A|CD209_uc010dvq.2_Silent_p.A398A|CD209_uc002mhq.2_Silent_p.A404A|CD209_uc002mhv.2_Silent_p.A380A|CD209_uc002mhx.2_Silent_p.A360A|CD209_uc002mhw.2_Silent_p.A268A|CD209_uc010dvr.2_Silent_p.A168A	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	404					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A404A(3)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTTCTGCTACGCAGGAGGGG	0.502												
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:11022906C>T	uc002mpz.3	+	4	731	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_5'UTR	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(4)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622												
AKAP8	10270	broad.mit.edu	37	19	15484143	15484143	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:15484143C>T	uc002nav.3	-	4	450	c.380G>A	c.(379-381)cGc>cAc	p.R127H	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_5'UTR	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	127					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGGCTGGAAGCGGAAGGAGCT	0.607												
OR10H4	126541	broad.mit.edu	37	19	16060302	16060302	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:16060302C>T	uc010xov.2	+	0	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T162T(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATGGTGACAACGATAGTTTTC	0.502												
RCN3	57333	broad.mit.edu	37	19	50042431	50042431	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:50042431A>G	uc002poj.3	+	4	1121	c.674A>G	c.(673-675)tAc>tGc	p.Y225C		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.	225	EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GTGGAGGAGTACATCGGTGAG	0.587												
SIGLEC11	114132	broad.mit.edu	37	19	50453362	50453362	+	Silent	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:50453362G>T	uc010ybh.2	-	10	2053	c.1962C>A	c.(1960-1962)ctC>ctA	p.L654L	SIGLEC11_uc010ybi.2_Silent_p.L558L	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	654					cell adhesion	integral to membrane	sugar binding			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)		CAGGCTCCCAGAGCCTCAGGC	0.662												
KIR3DX1	90011	broad.mit.edu	37	19	55048324	55048324	+	Silent	SNP	T	T	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:55048324T>C	uc010erm.2	+	0	204	c.192T>C	c.(190-192)ggT>ggC	p.G64G	KIR3DX1_uc010yfa.1_Non-coding_Transcript|KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GATGCTATGGTTCCTTCAATG	0.577												
CAPN13	92291	broad.mit.edu	37	2	30966369	30966369	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:30966369C>T	uc021vfn.1	-	11	1357	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.R438H|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	442					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAAGTTGCGGCGGAATTTATT	0.463												
LHCGR	3973	broad.mit.edu	37	2	48915170	48915170	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:48915170G>A	uc002rwu.4	-	10	1836	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	589					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCTGAGATGGCAAAAAAAGA	0.383												
DYSF	8291	broad.mit.edu	37	2	71871111	71871111	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:71871111A>C	uc010fen.3	+	41	4685	c.4544A>C	c.(4543-4545)gAt>gCt	p.D1515A	DYSF_uc010fei.3_Missense_Mutation_p.D1493A|DYSF_uc010feh.3_Missense_Mutation_p.D1483A|DYSF_uc002sig.4_Missense_Mutation_p.D1462A|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.D1507A|DYSF_uc010fee.3_Missense_Mutation_p.D1497A|DYSF_uc010fef.3_Missense_Mutation_p.D1514A|DYSF_uc002sie.3_Missense_Mutation_p.D1476A|DYSF_uc010feo.3_Missense_Mutation_p.D1508A|DYSF_uc010fej.3_Missense_Mutation_p.D1484A|DYSF_uc010fel.3_Missense_Mutation_p.D1463A|DYSF_uc010fem.3_Missense_Mutation_p.D1498A|DYSF_uc002sif.3_Missense_Mutation_p.D1477A|DYSF_uc010fek.3_Missense_Mutation_p.D1494A|DYSF_uc010yqy.2_Missense_Mutation_p.D357A|DYSF_uc010yqz.2_Missense_Mutation_p.D237A	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1476						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGTTCATCGATTGGTGGAGC	0.502												
SCN9A	6335	broad.mit.edu	37	2	167085353	167085353	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:167085353T>A	uc010fpl.3	-	21	4362	c.4021A>T	c.(4021-4023)Aac>Tac	p.N1341Y	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1352						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)	TCTGTGGTGTTAATACACTCA	0.403												
TTN	7273	broad.mit.edu	37	2	179437058	179437058	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:179437058T>C	uc021vsy.1	-	274	66322	c.66097A>G	c.(66097-66099)Att>Gtt	p.I22033V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I15728V|TTN_uc021vta.1_Missense_Mutation_p.I15661V|TTN_uc021vtb.1_Missense_Mutation_p.I15536V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22960	Ig-like 115.						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)			GGCAGCCCAATGCCATATTCA	0.448												
RBL1	5933	broad.mit.edu	37	20	35663716	35663716	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr20:35663716T>A	uc002xgi.3	-	14	2178	c.2099A>T	c.(2098-2100)cAa>cTa	p.Q700L	RBL1_uc002xgj.1_Missense_Mutation_p.Q700L	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	700	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TAGAAGAGTTTGACCAGGTAA	0.363												
DSCAM	1826	broad.mit.edu	37	21	41514514	41514514	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr21:41514514A>T	uc002yyq.1	-	17	3829	c.3377T>A	c.(3376-3378)gTc>gAc	p.V1126D	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1126	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAGTAAATGACTCTGAACCC	0.468												
PRDM15	63977	broad.mit.edu	37	21	43230603	43230603	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr21:43230603G>A	uc002yzq.1	-	27	3768	c.3657C>T	c.(3655-3657)caC>caT	p.H1219H	PRDM15_uc002yzo.3_Silent_p.H890H|PRDM15_uc002yzp.3_Silent_p.H910H|PRDM15_uc002yzr.1_Silent_p.H910H	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCACCTTGTCGTGTGTGAGCT	0.612												
IL2RB	3560	broad.mit.edu	37	22	37524874	37524874	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr22:37524874C>T	uc003aqv.1	-	9	1049	c.918G>A	c.(916-918)tcG>tcA	p.S306S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	306					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGGGGAAGGGCGAAGAGAGCC	0.622												
CDHR4	389118	broad.mit.edu	37	3	49836331	49836331	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:49836331C>T	uc010hkz.3	-	3	432	c.423G>A	c.(421-423)gtG>gtA	p.V141V	CDHR4_uc003cxp.2_Missense_Mutation_p.A167T|CDHR4_uc011bcw.2_Silent_p.V141V	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	Homo sapiens cadherin-related family member 4 (CDHR4), mRNA.	141					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CTGTCTCTGGCACCTGAATCA	0.652												
STAB1	23166	broad.mit.edu	37	3	52554842	52554842	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:52554842G>A	uc003dej.3	+	54	5803	c.5729G>A	c.(5728-5730)cGc>cAc	p.R1910H	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1910					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCTGCTGGCGCTTCTACCCG	0.662												
PROS1	5627	broad.mit.edu	37	3	93603713	93603713	+	Nonsense_Mutation	SNP	G	G	A	rs5017717		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:93603713G>A	uc003drb.4	-	11	1692	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	PROS1_uc010hoo.3_Nonsense_Mutation_p.R320*|PROS1_uc003dqz.4_Nonsense_Mutation_p.R320*	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	451	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCCAGCTTCGTATACATCCA	0.358												
ZIC1	7545	broad.mit.edu	37	3	147130368	147130368	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:147130368G>A	uc003ewe.3	+	1	1765	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	349					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D348N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCAGCGACCGCAAGAAGCAC	0.542												
SULT1B1	27284	broad.mit.edu	37	4	70596339	70596339	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:70596339T>G	uc003hen.3	-	6	956	c.658A>C	c.(658-660)Atc>Ctc	p.I220L		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	220					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CTATCCAAGATCTCATCATTC	0.363												
BMP3	651	broad.mit.edu	37	4	81967402	81967402	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:81967402A>G	uc003hmg.4	+	1	1147	c.827A>G	c.(826-828)cAc>cGc	p.H276R		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	276					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGGGATAGCCACATCAGAGCT	0.517												
QRFPR	84109	broad.mit.edu	37	4	122254151	122254151	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:122254151G>A	uc010inj.1	-	3	1001	c.622C>T	c.(622-624)Cct>Tct	p.P208S	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Missense_Mutation_p.P208S	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	208						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGGTGCACAGGGCTGGTCCAC	0.388												
CARD6	84674	broad.mit.edu	37	5	40853779	40853779	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:40853779G>A	uc003jmg.3	+	2	2420	c.2345G>A	c.(2344-2346)aGt>aAt	p.S782N		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	782					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CGAGGTAAAAGTTTTGGTATT	0.488												
ADAMTS6	11174	broad.mit.edu	37	5	64766854	64766854	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:64766854C>T	uc003jtp.3	-	2	1027	c.213G>A	c.(211-213)cgG>cgA	p.R71R	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	71					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GGTCCATACTCCGTCTTCTCC	0.383												
MAP1B	4131	broad.mit.edu	37	5	71494069	71494069	+	Silent	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:71494069A>G	uc003kbw.4	+	4	5128	c.4887A>G	c.(4885-4887)gcA>gcG	p.A1629A	MAP1B_uc010iyw.1_Silent_p.A1646A|MAP1B_uc010iyx.1_Silent_p.A1503A|MAP1B_uc010iyy.1_Silent_p.A1503A	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1629						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTAAAACTGCAAAGTCCAGGA	0.438												
PCDHGC5	5098	broad.mit.edu	37	5	140857767	140857770	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:140857767_140857770delTTCT	uc003lkv.2	+	0	2199_2202	c.2084_2087delTTCT	c.(2083-2088)cttcttfs	p.L695fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Frame_Shift_Del_p.L695fs|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	695					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I695N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTATCTACTTCTTTCTCTAATC	0.490											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SGCD	6444	broad.mit.edu	37	5	155935645	155935645	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:155935645G>T	uc003lwc.4	+	3	746	c.227G>T	c.(226-228)gGt>gTt	p.G76V	SGCD_uc003lwa.1_Missense_Mutation_p.G76V|SGCD_uc003lwb.3_Missense_Mutation_p.G76V|SGCD_uc003lwd.4_Missense_Mutation_p.G75V	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	75					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGAAAAAGGTCTAAAGCTA	0.418												
FLT4	2324	broad.mit.edu	37	5	180048669	180048669	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:180048669C>T	uc003mlz.4	-	12	1972	c.1893G>A	c.(1891-1893)gcG>gcA	p.A631A	FLT4_uc003mma.4_Silent_p.A631A|FLT4_uc003mmb.1_Silent_p.A164A|FLT4_uc011dgy.2_Silent_p.A631A	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	631	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCGTGGCGCGCCCCAGGTG	0.672												
ITPR3	3710	broad.mit.edu	37	6	33653882	33653882	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:33653882C>T	uc021ywr.1	+	41	5944	c.5720C>T	c.(5719-5721)aCg>aTg	p.T1907M		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1907					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTATGCGAGACGCTGCAGTTC	0.592												
GLP1R	2740	broad.mit.edu	37	6	39024212	39024212	+	Nonsense_Mutation	SNP	C	C	T	rs141990898		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:39024212C>T	uc003ooj.4	+	1	178	c.118C>T	c.(118-120)Cga>Tga	p.R40*	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	40					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	p.R40*(2)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GCAGAAATGGCGAGAATACCG	0.632												
DST	667	broad.mit.edu	37	6	56505355	56505355	+	Silent	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:56505355A>G	uc003pcy.4	-	3	573	c.465T>C	c.(463-465)tcT>tcC	p.S155S	DST_uc021zay.1_Silent_p.S521S|DST_uc011dxl.1_Silent_p.S510S|DST_uc021zax.1_Silent_p.S155S|DST_uc003pdc.4_Silent_p.S155S|DST_uc003pdd.4_Silent_p.S155S|DST_uc003pde.2_Silent_p.S597S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	481	Actin-binding.|CH 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.S155P(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTACACAGAAGAACATTCGT	0.393												
HSF2	3298	broad.mit.edu	37	6	122744040	122744040	+	Silent	SNP	C	C	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:122744040C>A	uc003pyu.2	+	8	1195	c.1008C>A	c.(1006-1008)acC>acA	p.T336T	HSF2_uc003pyv.2_Silent_p.T336T	NM_004506	NP_004497	Q03933	HSF2_HUMAN	Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.	336					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CCAGTCTGACCTCAGAAGATC	0.433												
QKI	9444	broad.mit.edu	37	6	163899861	163899861	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:163899861A>C	uc003qui.3	+	2	886	c.335A>C	c.(334-336)cAa>cCa	p.Q112P	QKI_uc003quj.3_Missense_Mutation_p.Q112P|QKI_uc003quh.3_Missense_Mutation_p.Q112P|QKI_uc003que.3_Missense_Mutation_p.Q112P|QKI_uc003quf.3_Missense_Mutation_p.Q112P|QKI_uc003qug.3_Missense_Mutation_p.Q112P	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	112	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ACAGCCAAACAACTTGAAGCA	0.368												
HNRNPA2B1	3181	broad.mit.edu	37	7	26236176	26236178	+	Splice_Site	DEL	CCT	CCT	-			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:26236176_26236178delCCT	uc003sxr.4	-	6	829	c.613_splice	c.e6+1	p.G205_splice	HNRNPA2B1_uc003sxs.4_Splice_Site_p.G193_splice	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	205	Gly-rich.			G -> S (in Ref. 4; BAF82118).	RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA 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						ATTAAAATTACCTCCTCTTCCAC	0.379			T	ETV1	prostate							
EGFR	1956	broad.mit.edu	37	7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:55223543C>T	uc003tqk.3	+	7	1156	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	304					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D303H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGACAGATCACGGCTCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
TPST1	8460	broad.mit.edu	37	7	65751542	65751542	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:65751542G>A	uc003tuw.3	+	2	1242	c.890G>A	c.(889-891)gGa>gAa	p.G297E	TPST1_uc010kzy.2_Non-coding_Transcript	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	297					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTCAATGTAGGAGCTCTATCA	0.373												
SRPK2	6733	broad.mit.edu	37	7	104782641	104782641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:104782641G>A	uc003vct.3	-	9	1511	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	SRPK2_uc003vcu.3_Nonsense_Mutation_p.R442*|SRPK2_uc003vcv.3_Nonsense_Mutation_p.R453*|SRPK2_uc003vcw.1_Nonsense_Mutation_p.R442*	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	442	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTTTATGTCGTCCATTTGGC	0.448												
GPR37	2861	broad.mit.edu	37	7	124404927	124404927	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:124404927C>G	uc003vli.3	-	0	755	c.104G>C	c.(103-105)aGa>aCa	p.R35T		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	35						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTTTCGTTTCTGGACGCAGG	0.647												
FGL1	2267	broad.mit.edu	37	8	17726189	17726189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:17726189G>A	uc003wye.3	-	8	1463	c.797C>T	c.(796-798)gCg>gTg	p.A266V	FGL1_uc003wxx.3_Missense_Mutation_p.A216V|FGL1_uc003wxy.3_Missense_Mutation_p.A216V|FGL1_uc003wya.3_Missense_Mutation_p.A216V|FGL1_uc003wyb.3_Missense_Mutation_p.A216V	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	216	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding	p.L266L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		AAAATTCCCCGCAAGGGAATC	0.453												
DOCK5	80005	broad.mit.edu	37	8	25222153	25222153	+	Missense_Mutation	SNP	G	G	A	rs148483229	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:25222153G>A	uc003xeg.3	+	29	3193	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R733H|DOCK5_uc003xei.3_Missense_Mutation_p.R589H|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1019						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTTTTCTCCGTGCTATAAAT	0.413												
PCMTD1	115294	broad.mit.edu	37	8	52733157	52733157	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:52733157C>A	uc003xqx.4	-	5	1169	c.828G>T	c.(826-828)agG>agT	p.R276S	PCMTD1_uc011ldm.2_Missense_Mutation_p.R146S|PCMTD1_uc011ldn.2_Missense_Mutation_p.R88S|PCMTD1_uc010lya.3_Missense_Mutation_p.R200S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	276						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTTTCTTTTCCTTTTGGGTG	0.408												
STK3	6788	broad.mit.edu	37	8	99718703	99718703	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:99718703G>C	uc003yio.3	-	7	1234	c.760C>G	c.(760-762)Cca>Gca	p.P254A	STK3_uc003yip.3_Missense_Mutation_p.P226A|STK3_uc010mbm.1_Intron	NM_006281	NP_006272	Q13188	STK3_HUMAN	Homo sapiens serine/threonine kinase 3 (STK3), transcript variant 1, mRNA.	226	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACCCTCATTGGATGTATATCA	0.348												
ATAD2	29028	broad.mit.edu	37	8	124358469	124358469	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:124358469T>C	uc003yqh.4	-	17	2497	c.2389A>G	c.(2389-2391)Ata>Gta	p.I797V	ATAD2_uc011lii.2_Missense_Mutation_p.I588V|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.I797V	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTCCTACTATCAATATTCTT	0.353												
SPATC1	375686	broad.mit.edu	37	8	145095497	145095497	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:145095497G>A	uc011lkw.2	+	2	897	c.795G>A	c.(793-795)tcG>tcA	p.S265S	SPATC1_uc011lkx.2_Silent_p.S265S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	265										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCCAGTCGACCCAGGACC	0.617												
KDM6A	7403	broad.mit.edu	37	X	44922695	44922695	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:44922695G>C	uc011mkz.2	+	16	2087	c.1712G>C	c.(1711-1713)cGa>cCa	p.R571P	KDM6A_uc022bvi.1_Missense_Mutation_p.R189P|KDM6A_uc010nhk.2_Missense_Mutation_p.R485P|KDM6A_uc004dge.4_Missense_Mutation_p.R519P|KDM6A_uc011mla.2_Missense_Mutation_p.R474P|KDM6A_uc011mlb.2_Missense_Mutation_p.R526P|KDM6A_uc011mlc.2_Missense_Mutation_p.R223P|KDM6A_uc022bvj.1_Missense_Mutation_p.R440P|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.R158P	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	519					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCACAGGTACGATCTACTGGA	0.463			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""							
DCAF12L2	340578	broad.mit.edu	37	X	125299171	125299171	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:125299171C>T	uc004euk.2	-	0	910	c.737G>A	c.(736-738)cGt>cAt	p.R246H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647												
SLITRK4	139065	broad.mit.edu	37	X	142718314	142718314	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:142718314C>T	uc022cfm.1	-	0	611	c.611G>A	c.(610-612)cGt>cAt	p.R204H	SLITRK4_uc022cfl.1_Missense_Mutation_p.R204H|SLITRK4_uc004fbx.3_Missense_Mutation_p.R204H|SLITRK4_uc004fby.3_Missense_Mutation_p.R204H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	204						integral to membrane		p.R204H(2)|p.R204C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428												
SPANXN2	494119	broad.mit.edu	37	X	142795437	142795437	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:142795437C>T	uc004fbz.3	-	1	995	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	81								p.V81F(2)|p.R90R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453												
