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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ESYT2	57488	broad.mit.edu	37	7	158557460	158557460	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:158557460C>G	uc003woc.1	-	8	864	c.625G>C	c.(625-627)Gac>Cac	p.D209H	ESYT2_uc003wob.1_Missense_Mutation_p.D385H|ESYT2_uc003wod.1_Missense_Mutation_p.D385H|ESYT2_uc003woa.1_5'Flank	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	413						integral to membrane|plasma membrane		p.D385H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCATAGGGGTCTGACTTTCCC	0.433000													41	323					0	0	1	0	0
BANF2	140836	broad.mit.edu	37	20	17716422	17716422	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:17716422A>C	uc010zrs.1	+	2	274	c.260A>C	c.(259-261)cAc>cCc	p.H87P	BANF2_uc002wqa.2_Missense_Mutation_p.H80P|BANF2_uc002wpz.2_Missense_Mutation_p.H80P	NM_001159495	NP_848572	Q9H503	BAFL_HUMAN	Homo sapiens barrier to autointegration factor 2 (BANF2), transcript variant 3, mRNA.	80						cytoplasm|nucleus	DNA binding	p.H80P(1)|p.C86R(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CAGACTTCTCACTGCCTCAAG	0.542000													37	86					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38618225	38618225	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:38618225G>A	uc021wvo.1	-	17	3490	c.3438C>T	c.(3436-3438)aaC>aaT	p.N1146N	SCN5A_uc021wvk.1_Silent_p.N1145N|SCN5A_uc021wvl.1_Silent_p.N1092N|SCN5A_uc021wvm.1_Silent_p.N1146N|SCN5A_uc021wvn.1_Silent_p.N1145N|SCN5A_uc021wvp.1_Silent_p.N1146N|SCN5A_uc021wvq.1_Silent_p.N1145N|SCN5A_uc021wvr.1_Silent_p.N1146N|SCN5A_uc021wvs.1_Silent_p.N1146N|SCN5A_uc021wvt.1_Silent_p.N1145N|SCN5A_uc021wvu.1_Silent_p.N1092N|SCN5A_uc021wvv.1_Silent_p.N1146N|SCN5A_uc021wvj.1_Silent_p.N958N|SCN5A_uc021wvi.1_Silent_p.N1012N|SCN5A_uc021wvw.1_Silent_p.N756N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1146					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.N1146N(3)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCTCAGCGGTGTTGGTCATGT	0.617000													3	24					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132198111	132198111	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:132198111T>C	uc003eor.3	+	24	2815	c.2750T>C	c.(2749-2751)cTt>cCt	p.L917P		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	917							heat shock protein binding	p.L917P(1)|p.L300P(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTCTCTTCCTTAACAAGTTG	0.303000													15	153					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5948526	5948526	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:5948526G>A	uc001iit.3	+	3	941	c.837G>A	c.(835-837)ccG>ccA	p.P279P	FBXO18_uc001iir.3_Silent_p.P154P|FBXO18_uc001iis.3_Silent_p.P228P|FBXO18_uc009xig.3_Silent_p.P154P	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	228					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.P279P(2)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTTCCTCCCGGTGGAAGACC	0.567000													42	138					0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81695585	81695585	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:81695585G>A	uc021xav.1	-	5	1022	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GBE1_uc021xax.1_Missense_Mutation_p.A206V	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	247					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.A247V(3)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ACCAAAGCTGGCATAGTAAGC	0.338000									Glycogen Storage Disease, type IV				54	111					0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144696809	144696809	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:144696809A>C	uc003yza.2	-	4	485	c.449T>G	c.(448-450)aTc>aGc	p.I150S	TSTA3_uc003yzb.2_Missense_Mutation_p.I150S|TSTA3_uc011lko.1_Splice_Site	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	150					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity	p.I150S(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CTGCACGTCGATCATCCTCTT	0.662000													27	119					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100775172	100775172	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775172G>A	uc003uxt.3	+	3	670	c.522G>A	c.(520-522)ttG>ttA	p.L174L	SERPINE1_uc011kkj.2_Silent_p.L159L|SERPINE1_uc003uxu.2_Silent_p.L5L	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	174					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.L174L(3)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCAGCAACTTGCTTGGGAAAG	0.498000													19	311					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108417620	108417620	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:108417620A>C	uc001dvk.1	-	1	278	c.224T>G	c.(223-225)aTa>aGa	p.I75R	VAV3_uc010ouw.1_Missense_Mutation_p.I75R|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.I75R	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	75	CH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	p.I75R(3)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAATGTCCTTATGTTCTTCAA	0.398000													48	104					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35185937	35185937	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185937G>A	uc001ziv.3	-	22	2679	c.2498C>T	c.(2497-2499)gCa>gTa	p.A833V		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	833						catalytic step 2 spliceosome	RNA binding	p.A833V(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GATCTGAACTGCCACATCTGT	0.413000													70	144					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107062535	107062535	+	RNA	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:107062535C>G	uc021ser.1	-	149		c.6534G>C								Parts of antibodies, mostly variable regions.																		CTGCCACCAGCAGGAGGAAGA	0.512000													4	52					0	0	1	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595973	129595973	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:129595973C>T	uc022bnm.1	+	0	1185	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	ZBTB43_uc004bql.3_Silent_p.L395L|ZBTB43_uc010mxf.3_Silent_p.L395L	NM_014007	NP_054726	O43298	ZBT43_HUMAN	Homo sapiens zinc finger and BTB domain containing 43 (ZBTB43), transcript variant 1, mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L395L(2)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCATGCACCTCGGTCTTCGGC	0.498000													71	124					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74421957	74421957	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:74421957G>T	uc001ovh.3	-	3	622	c.369C>A	c.(367-369)atC>atA	p.I123I	CHRDL2_uc001ovg.3_Silent_p.I7I|CHRDL2_uc001ovi.3_Silent_p.I123I|CHRDL2_uc001ovk.1_Silent_p.I123I	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	123	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		p.I123I(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GGGCACTGAAGATCTCTCCGT	0.622000													6	54					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101473041	101473041	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:101473041G>C	uc010svm.1	+	14	1955	c.1383G>C	c.(1381-1383)tgG>tgC	p.W461C	ANO4_uc001thw.2_Missense_Mutation_p.W426C|ANO4_uc001thx.2_Missense_Mutation_p.W461C|ANO4_uc001thy.2_Missense_Mutation_p.W28C	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	461						chloride channel complex	chloride channel activity	p.W426C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGATAGACTGGGAAGAAGAGG	0.433000										HNSCC(74;0.22)			63	159					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92570900	92570900	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:92570900C>T	uc001pdj.4	+	15	10313	c.10296C>T	c.(10294-10296)gtC>gtT	p.V3432V	FAT3_uc001pdi.4_5'Flank	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3432	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V3432V(2)|p.V7V(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCAACTGTCAACATTGATA	0.463000										TCGA Ovarian(4;0.039)			32	66					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071592	9071592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071592G>T	uc002mkp.3	-	2	16058	c.15854C>A	c.(15853-15855)cCc>cAc	p.P5285H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5287	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5285H(3)|p.P918H(1)|p.P5285P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTCCAAGGGAAGGGTACT	0.517000													44	117					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219305571	219305571	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:219305571C>T	uc002vib.3	+	17	2378	c.2356C>T	c.(2356-2358)Ccc>Tcc	p.P786S	VIL1_uc010zke.2_Missense_Mutation_p.P475S|VIL1_uc002via.3_Missense_Mutation_p.P786S	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	786	HP.|Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.P786S(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTGTGGACCCCAGCAGGAA	0.537000													17	45					0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936917	21936917	+	RNA	SNP	C	C	T	rs8026508		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:21936917C>T	uc010tzj.1	-	0		c.3823G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TCCAGTATGGCGTTCTGACCA	0.502000													24	338					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851603	26851603	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:26851603G>A	uc010crm.3	+	2	404	c.206G>A	c.(205-207)cGc>cAc	p.R69H	FOXN1_uc002hbj.3_Missense_Mutation_p.R69H	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	69			R -> C (in dbSNP:rs2071587).		defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R69H(4)|p.R69R(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CACAGCCCCCGCATTGCGTCA	0.647000													51	111					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108614336	108614336	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:108614336C>G	uc002tdv.3	+	4	767	c.491C>G	c.(490-492)tCt>tGt	p.S164C	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.S164C|SLC5A7_uc010ywn.2_Missense_Mutation_p.S51C	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	164					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.S164C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGCACATTTCTGTCATCATC	0.468000													174	372					0	0	1	0	0
INTS4	92105	broad.mit.edu	37	11	77702308	77702308	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:77702308G>C	uc001oys.3	-	1	120	c.92C>G	c.(91-93)aCa>aGa	p.T31R	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.T31R|INTS4_uc001oyv.1_Non-coding_Transcript	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	31					snRNA processing	integrator complex	protein binding	p.T31R(2)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ACTTGGTTTTGTTAGTCGGAG	0.443000													50	125					0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84229837	84229837	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:84229837G>A	uc002fhq.2	+	8	1747	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	ADAD2_uc002fhr.2_Missense_Mutation_p.A463T|AK123582_uc002fhs.1_Intron	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	463	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	p.A545T(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CGTCCGGACCGCCCTGCACCT	0.697000													71	94					0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458475	20458475	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:20458475C>T	uc002zsd.4	-	0	3312	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.									p.G943R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGGCACAGCCCTCTGTCCACC	0.577000													19	84					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885319	24885319	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:24885319G>C	uc001wpf.4	+	8	4682	c.4364G>C	c.(4363-4365)tGg>tCg	p.W1455S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1455					DNA integration	integral to membrane	DNA binding	p.W1455S(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGTGGGCAGTGGTGGAGTTTG	0.592000													36	62					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184026525	184026525	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:184026525G>C	uc003fnn.1	+	20	2607	c.2574G>C	c.(2572-2574)aaG>aaC	p.K858N	PSMD2_uc011brj.1_Missense_Mutation_p.K699N|PSMD2_uc011brk.1_Missense_Mutation_p.K728N	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	858					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.K858N(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGGCTGGCAAGCCGAAGACTA	0.547000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	106					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818051	7818051	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:7818051C>A	uc001mfp.1	-	0	439	c.439G>T	c.(439-441)Gct>Tct	p.A147S		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A147S(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAAACCAGCTATGTAAACT	0.403000													42	137					0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71804047	71804047	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:71804047T>G	uc011bge.2	+	0	847	c.847T>G	c.(847-849)Tgc>Ggc	p.C283G	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	283						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C283G(2)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GAAGAGGCTGTGCAAGATGTT	0.721000													9	30					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632549	32632549	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:32632549G>A	uc003zrg.1	-	0	3119	c.3029C>T	c.(3028-3030)aCa>aTa	p.T1010I	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1010					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.T1010I(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTCTGCATCTGTTCCTGTCAC	0.458000													154	334					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70867982	70867982	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:70867982C>G	uc002ezr.3	-	78	13635	c.13484G>C	c.(13483-13485)cGt>cCt	p.R4495P	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4496								p.R4447P(1)|p.R4495P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGAGGGACACGCTTCTTCGG	0.552000													32	35					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77294750	77294750	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:77294750C>A	uc001xsx.2	+	1	319	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript|C14orf166B_uc010tvh.1_5'Flank	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	69								p.L69M(2)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAAACAGACCTGGAGATTGA	0.532000													27	89					0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38172080	38172080	+	Silent	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:38172080A>G	uc002htp.3	+	1	291	c.177A>G	c.(175-177)gcA>gcG	p.A59A	CSF3_uc002hto.3_Silent_p.A59A|CSF3_uc002htq.3_Silent_p.A55A|CSF3_uc021tww.1_Silent_p.A59A|CSF3_uc021twx.1_Silent_p.A59A|CSF3_uc010wep.2_Silent_p.A55A	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	59					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	p.A55A(1)		endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCGATGGCGCAGCGCTCCAGG	0.642000													5	42					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851604	26851604	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:26851604C>T	uc010crm.3	+	2	405	c.207C>T	c.(205-207)cgC>cgT	p.R69R	FOXN1_uc002hbj.3_Silent_p.R69R	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	69			R -> C (in dbSNP:rs2071587).		defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R69R(2)|p.R69H(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACAGCCCCCGCATTGCGTCAC	0.652000													51	107					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134264447	134264447	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:134264447A>C	uc003eqo.1	+	7	1024	c.575A>C	c.(574-576)aAa>aCa	p.K192T	CEP63_uc003eql.1_Missense_Mutation_p.K192T|CEP63_uc003eqm.3_Missense_Mutation_p.K192T|CEP63_uc003eqn.1_Missense_Mutation_p.K192T	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	192					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.K192T(2)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCAATCGGAAACAGAAATTA	0.353000													34	119					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35185966	35185966	+	Silent	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185966G>C	uc001ziv.3	-	22	2650	c.2469C>G	c.(2467-2469)ggC>ggG	p.G823G		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	823						catalytic step 2 spliceosome	RNA binding	p.G823G(4)|p.V822G(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TACCAGGTGGGCCCACAACCT	0.398000													42	123					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816093	1816093	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:1816093G>A	uc010uvl.2	+	20	2699	c.2579G>A	c.(2578-2580)cGg>cAg	p.R860Q	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R859Q|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R849Q|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R853Q	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	859					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding	p.R859Q(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AACGTGCCGCGGAGCAACTGC	0.662000													6	55					0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65623027	65623027	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:65623027C>G	uc002aos.2	-	9	1866	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	538	Fibronectin type-III 2.							p.Q538H(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCACAGCAGCTGCAAGGAGG	0.657000													9	22					0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100775170	100775170	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775170T>C	uc003uxt.3	+	3	668	c.520T>C	c.(520-522)Ttg>Ctg	p.L174L	SERPINE1_uc011kkj.2_Silent_p.L159L|SERPINE1_uc003uxu.2_Silent_p.L5L	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	174					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.L174L(3)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GATCAGCAACTTGCTTGGGAA	0.493000													20	317					0	0	1	0	0
C15orf44	81556	broad.mit.edu	37	15	65890710	65890710	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:65890710G>C	uc010uix.2	-	5	1193	c.805C>G	c.(805-807)Cct>Gct	p.P269A	C15orf44_uc002apd.3_Missense_Mutation_p.P233A|C15orf44_uc010uja.2_Missense_Mutation_p.P216A|C15orf44_uc010ujb.2_Missense_Mutation_p.P176A|C15orf44_uc002ape.4_Missense_Mutation_p.P233A|C15orf44_uc010uiy.2_Missense_Mutation_p.P154A|C15orf44_uc010uiz.2_Missense_Mutation_p.P197A			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	233								p.P233A(1)|p.S269S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						ACAACAAAAGGTTCTGGCCTG	0.363000													47	100					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97918959	97918959	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:97918959G>C	uc001klp.3	+	5	3737	c.2880G>C	c.(2878-2880)ttG>ttC	p.L960F	ZNF518A_uc001klo.1_Missense_Mutation_p.L430F|ZNF518A_uc001klq.3_Missense_Mutation_p.L960F|ZNF518A_uc001klr.3_Missense_Mutation_p.L960F	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L960F(3)|p.P959S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CACTTCCATTGGTTAATTCAC	0.363000													55	262					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47039694	47039694	+	Silent	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chrX:47039694C>G	uc004dhi.3	+	10	1570	c.1341C>G	c.(1339-1341)gcC>gcG	p.A447A	RBM10_uc004dhf.3_Silent_p.A382A|RBM10_uc004dhh.3_Silent_p.A381A|RBM10_uc010nhq.3_Silent_p.A305A|RBM10_uc004dhg.3_Silent_p.A304A	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	382					RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding	p.A382A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TTGAGTTTGCCAAGGGTTCTA	0.632000													17	9					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2419086	2419086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:2419086C>A	uc001aji.1	+	7	1435	c.1161C>A	c.(1159-1161)taC>taA	p.Y387*	PLCH2_uc010nyz.2_Nonsense_Mutation_p.Y176*|PLCH2_uc009vle.1_Nonsense_Mutation_p.Y176*|PLCH2_uc001ajj.1_Nonsense_Mutation_p.Y176*|PLCH2_uc001ajk.1_Nonsense_Mutation_p.Y176*	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	388	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Y388*(1)|p.Y235*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCATGGCTACACTCTGACTT	0.592000													5	64					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56341001	56341001	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:56341001T>C	uc003pcy.4	-	72	14049	c.13941A>G	c.(13939-13941)aaA>aaG	p.K4647K		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7059					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	Z disc|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	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity	p.K4647K(1)|p.K7061K(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)			GGATGACTTCTTTATCCTTAT	0.423000													7	43					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12337950	12337950	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:12337950T>G	uc001atv.3	+	18	4446	c.4305T>G	c.(4303-4305)aaT>aaG	p.N1435K	VPS13D_uc001atw.3_Missense_Mutation_p.N1435K|VPS13D_uc001atx.3_Missense_Mutation_p.N623K	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	1435					protein localization			p.N1435K(2)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTCTTTGAATTGCACCCAGT	0.498000													88	179					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785947	111785947	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:111785947G>A	uc001tsa.2	+	21	4433	c.4279G>A	c.(4279-4281)Gcc>Acc	p.A1427T		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1427	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A1427T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCACCTGGCGCCCCCCCTGC	0.657000													12	121					0	0	1	0	0
EDN2	1907	broad.mit.edu	37	1	41948239	41948239	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:41948239A>T	uc001cgx.3	-	2	314	c.242T>A	c.(241-243)cTg>cAg	p.L81Q	EDN2_uc001cgu.3_Non-coding_Transcript|EDN2_uc001cgv.3_Non-coding_Transcript|EDN2_uc009vwh.3_5'UTR|EDN2_uc001cgw.3_Non-coding_Transcript|EDN2_uc009vwi.3_Intron|EDN2_uc009vwj.3_Intron	NM_001956	NP_001947	P20800	EDN2_HUMAN	Homo sapiens endothelin 2 (EDN2), mRNA.	81					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	p.L81Q(2)		endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGGTTTCCCAGGCCGTAAGG	0.617000													7	20					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71514563	71514563	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:71514563G>A	uc001xmo.2	+	21	4646	c.4200G>A	c.(4198-4200)ttG>ttA	p.L1400L	PCNX_uc010are.1_Silent_p.L1289L|PCNX_uc010arf.1_Silent_p.L260L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1400						integral to membrane		p.L1400L(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTTGAAGTTGCTACGATCCT	0.373000													46	233					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197030932	197030932	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:197030932T>C	uc001gtt.1	-	2	477	c.433A>G	c.(433-435)Acc>Gcc	p.T145A		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	145	Sushi 2.				blood coagulation	extracellular region		p.T145A(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCCTACAGGTTGGTTGAGAA	0.373000													36	79					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587856	247587856	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:247587856C>A	uc001icr.3	+	4	1249	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	NLRP3_uc001ics.3_Missense_Mutation_p.L371M|NLRP3_uc001icu.3_Missense_Mutation_p.L371M|NLRP3_uc001icw.3_Missense_Mutation_p.L371M|NLRP3_uc001icv.3_Missense_Mutation_p.L371M|NLRP3_uc010pyw.2_Missense_Mutation_p.L369M|NLRP3_uc001ict.1_Missense_Mutation_p.L369M	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	371	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L371M(2)|p.L371L(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGGAGATCCTGGGTTTCTC	0.547000													58	129					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96970455	96970455	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:96970455T>G	uc002svu.3	-	1	329	c.197A>C	c.(196-198)gAa>gCa	p.E66A		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	66						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E66A(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCTCTTCTTTCCTCCTGCAT	0.517000													41	105					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38946767	38946767	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:38946767G>T	uc021wvy.1	-	10	1718	c.1519C>A	c.(1519-1521)Ctg>Atg	p.L507M		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	507					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L507M(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGTGGTCCAGTGATAGATTC	0.512000													85	190					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374854	8374854	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:8374854A>G	uc001qui.2	-	6	1518	c.959T>C	c.(958-960)aTc>aCc	p.I320T	FAM90A1_uc001quh.2_Missense_Mutation_p.I320T	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	320							nucleic acid binding|zinc ion binding	p.I320T(2)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ACCTCCCTGGATGGCGCTTTC	0.642000													4	47					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162577600	162577600	+	Silent	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:162577600A>G	uc003iqh.3	-	6	1210	c.774T>C	c.(772-774)acT>acC	p.T258T	FSTL5_uc003iqi.3_Silent_p.T257T|FSTL5_uc010iqv.3_Silent_p.T257T	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	258	Ig-like 1.					extracellular region	calcium ion binding	p.T258T(2)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGTTGCTGCAGTGATGCTTA	0.398000													18	88					0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964337	48964337	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:48964337C>T	uc010kyv.1	+	0	181	c.69C>T	c.(67-69)acC>acT	p.T23T						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TGGACATCACCGATCGCCTTC	0.532000													43	100					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186971086	186971086	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:186971086T>G	uc003frh.2	-	5	1152	c.762A>C	c.(760-762)aaA>aaC	p.K254N	MASP1_uc003fri.3_Missense_Mutation_p.K254N|MASP1_uc003frj.3_Missense_Mutation_p.K223N|MASP1_uc003frk.2_Missense_Mutation_p.K254N|MASP1_uc011bse.2_Missense_Mutation_p.K228N	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	254	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.K254N(3)|p.K254K(3)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCCCCAAAACTTTTGGACCAA	0.498000													159	436					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220348803	220348803	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:220348803C>T	uc010fwg.3	+	29	6618	c.6618C>T	c.(6616-6618)ccC>ccT	p.P2206P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2206	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.P2206P(3)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGCAGCCCCCCGCACCCCAGC	0.677000													32	44					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269738	28269738	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:28269738G>C	uc003nky.3	+	6	2527	c.2107G>C	c.(2107-2109)Ggc>Cgc	p.G703R	PGBD1_uc003nkz.3_Missense_Mutation_p.G703R	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	703					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.G703R(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAATGCTGTGGGCATAGAACC	0.398000													24	251					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10256077	10256077	+	Silent	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr5:10256077T>G	uc003jeq.3	+	3	513	c.342T>G	c.(340-342)ggT>ggG	p.G114G	CCT5_uc011cmq.2_Intron|CCT5_uc011cmr.2_Silent_p.G59G|CCT5_uc011cms.2_Silent_p.G76G|CCT5_uc011cmt.2_Silent_p.G21G	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	114					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	p.G114G(2)|p.A113D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TCCTGGCTGGTGCCTTGTTAG	0.453000													11	32					0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474214	99474214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:99474214G>T	uc003usc.1	-	0	443	c.443C>A	c.(442-444)tCa>tAa	p.S148*		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S148*(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCCCAACCATGACATGACAGC	0.502000													54	122					0	0	1	0	0
BSCL2	26580	broad.mit.edu	37	11	62462097	62462097	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:62462097C>G	uc001nut.4	-	4	1175	c.573G>C	c.(571-573)ttG>ttC	p.L191F	BSCL2_uc001nup.3_Missense_Mutation_p.L127F|BSCL2_uc009yoc.2_Missense_Mutation_p.L127F|BSCL2_uc001nur.4_Missense_Mutation_p.L191F|BSCL2_uc009yod.3_Missense_Mutation_p.L191F|HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001122955	NP_001116427	Q96G97	BSCL2_HUMAN	Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA.	127					cell death	integral to endoplasmic reticulum membrane		p.L127F(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAATGGTGACCAAGAACATGC	0.522000											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	67					0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22690118	22690118	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:22690118A>G	uc001iri.3	+	8	1393	c.1226A>G	c.(1225-1227)cAa>cGa	p.Q409R	SPAG6_uc010qct.2_Missense_Mutation_p.Q384R|SPAG6_uc009xkh.3_Missense_Mutation_p.Q387R|SPAG6_uc001irj.3_Missense_Mutation_p.Q409R|SPAG6_uc021poe.1_Missense_Mutation_p.Q135R	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	409					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.Q409R(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AATATCCTGCAAAAATGTACC	0.348000													11	124					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935327	30935327	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:30935327C>T	uc002nsu.1	+	1	996	c.858C>T	c.(856-858)cgC>cgT	p.R286R	ZNF536_uc010edd.1_Silent_p.R286R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R286R(4)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAAGAAGCGCGAGGAGCTGG	0.662000													34	75					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44976183	44976183	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:44976183C>A	uc001wvn.3	-	0	317	c.8G>T	c.(7-9)gGc>gTc	p.G3V		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	3						cilium		p.G3V(2)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGGGATTTGCCTACCATTGG	0.413000													105	274					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45639925	45639925	+	Silent	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:45639925T>G	uc001wwd.4	+	11	2235	c.2136T>G	c.(2134-2136)tcT>tcG	p.S712S	FANCM_uc010anf.3_Silent_p.S686S|FANCM_uc001wwe.4_Silent_p.S248S	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	712					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding	p.S712S(2)		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						AGTTTTCTTCTTTACAAAATG	0.323000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				62	122					0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77036593	77036593	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:77036593C>A	uc003hjs.3	-	11	1578	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	NUP54_uc010ije.3_Missense_Mutation_p.D202Y|NUP54_uc011cbs.2_Missense_Mutation_p.D304Y|NUP54_uc011cbt.2_Missense_Mutation_p.D436Y|NUP54_uc003hjt.3_Missense_Mutation_p.D268Y	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	484					carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		p.D484Y(2)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTTCTAGATCGTCTTTAATG	0.333000													44	92					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151161667	151161667	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:151161667C>G	uc011bod.2	-	4	5068	c.5068G>C	c.(5068-5070)Gat>Cat	p.D1690H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1690	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.D1690H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTAGATAAATCAAGTCCTGAG	0.398000													24	96					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10921956	10921956	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr21:10921956G>C	uc002yip.1	-	17	1435	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.S338C|TPTE_uc002yir.1_Missense_Mutation_p.S318C|TPTE_uc010gkv.1_Missense_Mutation_p.S218C	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	356	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S338Y(1)|p.S356Y(1)|p.S338C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACATATTTCAGAGGCAATAAG	0.343000													28	170					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48114380	48114380	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:48114380T>A	uc003gxx.4	-	3	410	c.324A>T	c.(322-324)gaA>gaT	p.E108D	TXK_uc003gxy.1_Missense_Mutation_p.E108D	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	108	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.E108D(3)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GTATCAGGTATTCTTCTGCTC	0.443000													8	328					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121554095	121554095	+	Silent	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:121554095T>A	uc010mdg.3	-	5	1705	c.1479A>T	c.(1477-1479)ggA>ggT	p.G493G		NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	493	SU.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.G493G(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GCATCCTGATTCCATCATCTG	0.363000													10	219					0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50979132	50979132	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:50979132G>A	uc002psh.3	-	1	676	c.318C>T	c.(316-318)gaC>gaT	p.D106D	FAM71E1_uc002psg.3_Silent_p.D106D|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	106								p.D106D(2)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		CCCGAAACTGGTCGAATTCGC	0.627000													12	48					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75981610	75981610	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:75981610G>C	uc002baw.3	-	2	1889	c.1796C>G	c.(1795-1797)tCt>tGt	p.S599C		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	599	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.S599C(2)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGGAGGCCAGAGGAGGTGCC	0.672000													8	54					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071591	9071591	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071591G>T	uc002mkp.3	-	2	16059	c.15855C>A	c.(15853-15855)ccC>ccA	p.P5285P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5287	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5285P(3)|p.P918P(1)|p.P5285H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGTCCAAGGGAAGGGTAC	0.522000													43	118					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124219675	124219675	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124219675C>T	uc003ypv.3	+	4	3066	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	FAM83A_uc003ypw.3_Intron|FAM83A_uc003ypx.3_Missense_Mutation_p.A351V|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Intron	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	351	Ser-rich.							p.A351V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTGTGTCCGCGTCTTCAGGG	0.731000													6	28					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194126843	194126843	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:194126843C>T	uc003fty.4	-	31	3888	c.3486G>A	c.(3484-3486)gaG>gaA	p.E1162E	ATP13A3_uc003ftx.4_Silent_p.E71E	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	1162					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.E1162E(2)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GATCCACTGACTCCTAAGAAA	0.428000													14	133					0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52538071	52538071	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:52538071T>A	uc002pyk.3	-	4	1179	c.861A>T	c.(859-861)aaA>aaT	p.K287N		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K287N(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATATGTAGGGTTTCTCTCCAG	0.388000													48	225					0	0	1	0	0
ZNF410	57862	broad.mit.edu	37	14	74370665	74370665	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:74370665G>A	uc010arz.2	+	6	1084	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Intron|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_Silent_p.E8E|ZNF410_uc001xoz.2_Missense_Mutation_p.E195K|ZNF410_uc001xpb.2_Missense_Mutation_p.E195K|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Missense_Mutation_p.E122K|ZNF410_uc010tuj.2_Silent_p.E8E	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E195K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TGTTACAGGAGAAAATGTCCA	0.428000													39	105					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49165010	49165010	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:49165010C>T	uc002pkb.3	-	6	1490	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	465	NTR.					extracellular region		p.R465Q(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CTGCTGCAGCCGCTTCAGGGG	0.766000													2	1					0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112555403	112555403	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:112555403G>C	uc011kms.1	-	2	465	c.338C>G	c.(337-339)gCa>gGa	p.A113G	C7orf60_uc003vgo.1_Missense_Mutation_p.A87G	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	87								p.A87G(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						ACAAGTTTTTGCCCAATGATT	0.363000													49	147					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10231330	10231330	+	Silent	SNP	G	G	A	rs142901446		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:10231330G>A	uc021ogc.1	+	25	4309	c.3621G>A	c.(3619-3621)acG>acA	p.T1207T	UBE4B_uc001aqs.4_Silent_p.T1156T|UBE4B_uc001aqr.4_Silent_p.T1027T|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.T611T|UBE4B_uc001aqu.3_Silent_p.T37T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1156					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.T1027T(1)|p.T1156T(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ACCAACTGACGGATATTTACT	0.478000													81	232					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166478	140166478	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr5:140166478T>A	uc003lhb.2	+	0	603	c.603T>A	c.(601-603)gaT>gaA	p.D201E	PCDHAC2_uc003lha.2_Missense_Mutation_p.D201E|PCDHAC2_uc003lgz.3_Missense_Mutation_p.D201E	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	216	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D201E(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATATTTGGATAGAGAAGAAA	0.453000													11	121					0	0	1	0	0
CACYBP	27101	broad.mit.edu	37	1	174979201	174979201	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:174979201G>A	uc001gkj.1	+	5	1098	c.673G>A	c.(673-675)Gac>Aac	p.D225N	CACYBP_uc001gki.1_Missense_Mutation_p.D182N	NM_014412	NP_001007215	Q9HB71	CYBP_HUMAN	Homo sapiens calcyclin binding protein (CACYBP), transcript variant 1, mRNA.	225	Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.					beta-catenin destruction complex	protein homodimerization activity	p.D225N(2)|p.G224*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGCCAAAGGAGACACGGAATT	0.378000													30	77					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44979077	44979077	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:44979077C>A	uc010zxp.2	-	10	1234	c.1141G>T	c.(1141-1143)Gac>Tac	p.D381Y	SLC35C2_uc002xro.3_Missense_Mutation_p.D352Y|SLC35C2_uc002xrp.3_Missense_Mutation_p.D331Y|SLC35C2_uc002xrq.3_Missense_Mutation_p.D352Y|SLC35C2_uc002xrr.3_Missense_Mutation_p.D352Y|SLC35C2_uc010zxn.2_Missense_Mutation_p.D217Y|SLC35C2_uc010zxo.2_Missense_Mutation_p.D238Y	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	352					transport	integral to membrane		p.D352Y(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TCCTCATTGTCACCTTCCTCC	0.642000													33	135					0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67173158	67173158	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:67173158G>A	uc001ola.3	+	4	482	c.453G>A	c.(451-453)tcG>tcA	p.S151S	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_Silent_p.S151S|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	151	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.S151S(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTTTGTGTCGCCTCAGGGCC	0.642000													40	83					0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092294	202092294	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:202092294C>T	uc001gxj.3	+	0	266	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	68						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.P68L(2)|p.Y67N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GCGGAGTACCCCCGGCCCATT	0.672000													6	45					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279676	217279676	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:217279676C>G	uc002vgc.4	+	2	579	c.249C>G	c.(247-249)gaC>gaG	p.D83E	SMARCAL1_uc002vgd.4_Missense_Mutation_p.D83E|SMARCAL1_uc010fvg.3_Missense_Mutation_p.D83E	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	83					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	p.D83E(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTAATGCTGACCAAAGACCTC	0.478000									Schimke Immuno-Osseous Dysplasia				27	134					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23110993	23110993	+	Missense_Mutation	SNP	C	C	T	rs139122679		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:23110993C>T	uc009vqj.1	+	2	380	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	EPHB2_uc001bge.3_Missense_Mutation_p.R79W|EPHB2_uc001bgf.3_Missense_Mutation_p.R79W|EPHB2_uc010odu.2_Missense_Mutation_p.R79W	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	79					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.R79W(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAGTTTATCCGGCGCCGTGG	0.577000													20	33					0	0	1	0	0
FAM70B	348013	broad.mit.edu	37	13	114514745	114514745	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr13:114514745C>T	uc001vuh.3	+	8	877	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	284	Pro-rich.					integral to membrane		p.L284L(1)		upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CTCCTCTGCCCTGGCTTCGTC	0.657000													39	107					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67405081	67405081	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:67405081G>C	uc002esv.3	+	8	1449	c.1430G>C	c.(1429-1431)tGg>tCg	p.W477S	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc010ceh.3_Missense_Mutation_p.W209S|LRRC36_uc002esx.3_Missense_Mutation_p.W356S|LRRC36_uc010vjk.2_Missense_Mutation_p.W356S|LRRC36_uc010vjl.2_Missense_Mutation_p.M1I	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	477								p.W477S(2)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GGATTCAAATGGAAGGACAAT	0.463000													25	238					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658215	46658215	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:46658215G>T	uc003bhh.3	-	0	1005	c.1005C>A	c.(1003-1005)tcC>tcA	p.S335S		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	335	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.S335S(2)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCGCCTGCAGGGAACTCCTGA	0.552000													50	196					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34257426	34257426	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:34257426C>T	uc003zua.4	-	10	2299	c.2179G>A	c.(2179-2181)Gcc>Acc	p.A727T	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	727					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A727T(2)|p.A209T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTGTGGTGGGCGTTGCCAAAG	0.567000													134	303					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976509	47976509	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:47976509G>C	uc011dwm.2	-	1	802	c.768C>G	c.(766-768)gaC>gaG	p.D256E	PTCHD4_uc011dwn.2_Missense_Mutation_p.D3E|PTCHD4_uc003ozf.2_Missense_Mutation_p.D256E	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	256	SSD.					integral to membrane	hedgehog receptor activity	p.D256E(1)									TGCGCAAGCAGTCCTTCATGG	0.567000													8	73					0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498984	31498984	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:31498984C>G	uc002ecf.4	+	6	808	c.789C>G	c.(787-789)taC>taG	p.Y263*	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	263					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.Y263*(2)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CCGACTCCTACCACCTGCTCC	0.652000													10	89					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832589	101832589	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:101832589T>C	uc001pgm.3	+	5	1093	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P	KIAA1377_uc001pgn.3_Missense_Mutation_p.S231P|KIAA1377_uc010run.2_Missense_Mutation_p.S76P|KIAA1377_uc009yxa.1_Missense_Mutation_p.S76P	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	275			S -> Y (in dbSNP:rs11225089).				protein binding	p.S275P(2)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCATTCCACATCCATCCAGCG	0.373000													42	90					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36524554	36524554	+	Silent	SNP	C	C	T	rs145962483		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:36524554C>T	uc003cgh.1	+	2	498	c.459C>T	c.(457-459)ggC>ggT	p.G153G	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Intron	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	153					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.G153G(2)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCACAGATGGCCTGGCACCCC	0.562000													33	90					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45858935	45858935	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:45858935G>A	uc002pbj.2	-	15	1578	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	ERCC2_uc002pbh.2_Missense_Mutation_p.R74W|ERCC2_uc002pbi.2_Missense_Mutation_p.R204W|ERCC2_uc010ejz.2_Missense_Mutation_p.R433W|ERCC2_uc002pbk.2_Missense_Mutation_p.R487W	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	511	Mediates interaction with MMS19.		R -> Q (in XP-D).		UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.R511W(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATATCCTCCCGGGTCTCAAAT	0.547000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				22	63					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179638343	179638343	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:179638343T>C	uc010pnp.2	+	16	3182	c.2664T>C	c.(2662-2664)aaT>aaC	p.N888N	TDRD5_uc021pfm.1_Silent_p.N834N|TDRD5_uc001gnf.2_Silent_p.N834N|TDRD5_uc021pfn.1_Silent_p.N888N|TDRD5_uc001gnh.2_Silent_p.N389N	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	860					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.N834N(1)|p.A888S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGACATAAATGGTTCTTCAG	0.403000													69	148					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305247	54305247	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:54305247G>T	uc021smr.1	+	0	147	c.147G>T	c.(145-147)caG>caT	p.Q49H	UNC13C_uc021sms.1_Missense_Mutation_p.Q49H	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	49					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q49H(3)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGCTGGCCAGACCAAATCCC	0.398000													43	82					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135106938	135106938	+	Silent	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:135106938A>C	uc003vsv.2	-	2	670	c.339T>G	c.(337-339)gtT>gtG	p.V113V	CNOT4_uc011kpy.2_Silent_p.V113V|CNOT4_uc011kpz.2_Silent_p.V113V|CNOT4_uc003vst.3_Silent_p.V113V|CNOT4_uc003vss.3_Silent_p.V113V|CNOT4_uc003vsu.2_Silent_p.V113V	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	113	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.V113V(3)|p.V113I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATAAACCTACAACAAAGACGA	0.348000													54	128					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92262994	92262994	+	Silent	SNP	A	A	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:92262994A>T	uc001doh.3	-	2	611	c.96T>A	c.(94-96)ccT>ccA	p.P32P	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_5'UTR|TGFBR3_uc001doi.3_Silent_p.P32P|TGFBR3_uc001doj.3_Silent_p.P32P	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	32					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.P32P(2)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGCACTGACAGGTGACAGTT	0.552000													42	96					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6930071	6930071	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:6930071C>G	uc010clt.1	+	6	1164	c.1102C>G	c.(1102-1104)Cca>Gca	p.P368A	BCL6B_uc002geg.2_Missense_Mutation_p.P368A	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	368						nucleus	zinc ion binding	p.P368A(2)		skin(1)	1						TTTTAACCGGCCAGCAAACCT	0.577000													8	103					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43044437	43044437	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:43044437G>C	uc001zqo.2	-	13	3446	c.3007C>G	c.(3007-3009)Cta>Gta	p.L1003V	TTBK2_uc010bcy.2_Missense_Mutation_p.L934V	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1003					cell death		ATP binding|protein serine/threonine kinase activity	p.L1003V(2)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTCTCCTCTAGCAATTTATCA	0.468000													13	150					0	0	1	0	0
ACTG1	71	broad.mit.edu	37	17	79478427	79478427	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:79478427C>T	uc002kak.2	-	3	847	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Missense_Mutation_p.G197S|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	197					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.G197S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			AAGCTGTAGCCTCGCTCAGTG	0.642000													39	86					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002823	69002823	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:69002823C>T	uc003xxv.1	+	19	2150	c.2123C>T	c.(2122-2124)gCt>gTt	p.A708V	PREX2_uc003xxu.1_Missense_Mutation_p.A708V|PREX2_uc011lez.1_Missense_Mutation_p.A643V	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	708	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.A708V(3)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAACTGTGGCTGCAGCAGCT	0.368000													54	63					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	711931	711931	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:711931T>C	uc003zgl.1	+	6	1814	c.1165T>C	c.(1165-1167)Tcc>Ccc	p.S389P	KANK1_uc003zgm.3_Missense_Mutation_p.S389P|KANK1_uc003zgn.1_Missense_Mutation_p.S389P|KANK1_uc003zgo.1_Missense_Mutation_p.S389P|KANK1_uc003zgp.1_Missense_Mutation_p.S389P|KANK1_uc003zgq.2_Missense_Mutation_p.S231P|KANK1_uc003zgr.1_Missense_Mutation_p.S231P|KANK1_uc003zgs.1_Missense_Mutation_p.S231P	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	389					negative regulation of actin filament polymerization	cytoplasm		p.S231P(2)|p.S389P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTGTGAGGCCTCCTCAGAGCT	0.577000													22	68					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754200	76754200	+	Missense_Mutation	SNP	G	G	A	rs147654064		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr18:76754200G>A	uc002lmt.3	+	1	2209	c.2209G>A	c.(2209-2211)Gtg>Atg	p.V737M	SALL3_uc010dra.3_Missense_Mutation_p.V344M	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V737M(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCCTGCGCGTGCAGCACTC	0.652000													28	21					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161969991	161969991	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:161969991C>A	uc021zhu.1	-	9	1210	c.1119G>T	c.(1117-1119)caG>caT	p.Q373H	PARK2_uc003qtv.4_Intron|PARK2_uc003qtw.4_Missense_Mutation_p.Q135H|PARK2_uc010kkd.3_Missense_Mutation_p.Q135H|PARK2_uc003qtx.4_Missense_Mutation_p.Q326H|PARK2_uc021zhs.1_Intron|PARK2_uc021zht.1_Intron|PARK2_uc003qty.4_Missense_Mutation_p.Q298H|PARK2_uc003qtz.4_Missense_Mutation_p.Q177H|PARK2_uc021zhv.1_Missense_Mutation_p.Q247H|PARK2_uc021zhw.1_Missense_Mutation_p.Q135H|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Intron|PARK2_uc010kke.1_Missense_Mutation_p.Q345H|PARK2_uc011egf.2_5'UTR	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	326					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q326H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CGCCCCCCATCTGCAGGACAC	0.577000													60	150					0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102570788	102570788	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:102570788C>A	uc010mbu.3	+	3	756	c.426C>A	c.(424-426)agC>agA	p.S142R	GRHL2_uc011lhi.1_Missense_Mutation_p.S142R	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	142						cytoplasm|nucleus	DNA binding	p.S142R(2)|p.I141I(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACAGCATCAGCTTCCCCGAGA	0.517000													70	235					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91016148	91016148	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:91016148T>A	uc002bpl.1	+	18	2356	c.2255T>A	c.(2254-2256)cTg>cAg	p.L752Q		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	752	IQ 1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding	p.L752Q(2)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCACCAGGCTGCAGGCTCGC	0.498000													63	123					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99655149	99655149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:99655149G>A	uc001kou.2	-	10	1695	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	CRTAC1_uc001kov.3_Nonsense_Mutation_p.R447*|CRTAC1_uc001kot.2_Nonsense_Mutation_p.R237*	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	447						proteinaceous extracellular matrix	calcium ion binding	p.R447*(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGCACCACTCGCAGCCAGTTG	0.642000													42	93					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390797	48390797	+	Silent	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:48390797C>A	uc001jez.3	-	0	195	c.81G>T	c.(79-81)ctG>ctT	p.L27L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	27	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L27L(2)|p.L27P(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGTCCAGCACCAGGCTTGGCT	0.602000													23	64					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593386	1593386	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr5:1593386A>C	uc010itg.1	-	1	151	c.74T>G	c.(73-75)gTg>gGg	p.V25G	SDHAP3_uc011cme.2_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA.																		CTGGCCATTCACGTGCCTCAG	0.597000													4	89					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36563769	36563770	+	Frame_Shift_Ins	INS	-	C	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:36563769_36563770insC	uc001bzv.2	-	1	1519_1520	c.1512_1513insG	c.(1510-1515)gggcccfs	p.G504fs	COL8A2_uc001bzw.2_Frame_Shift_Ins_p.G439fs	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	504	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCCCGTGGGCCCAGCCGTGC	0.762													4	8	---	---	---	---					
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:41648508_41648509delGA	uc003gvz.4	+	16	2835_2836	c.2418_2419delGA	c.(2416-2421)cggagafs	p.R806fs	LIMCH1_uc003gwe.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvu.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvv.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvw.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvx.4_Frame_Shift_Del_p.R409fs|LIMCH1_uc003gvy.4_Frame_Shift_Del_p.R250fs|LIMCH1_uc003gwa.4_Frame_Shift_Del_p.R262fs|LIMCH1_uc011byu.2_Frame_Shift_Del_p.R255fs|LIMCH1_uc003gwc.4_Frame_Shift_Del_p.R267fs|LIMCH1_uc003gwd.4_Frame_Shift_Del_p.R255fs|LIMCH1_uc011byv.2_Frame_Shift_Del_p.R172fs	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	421	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													7	254	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124350061	124350065	+	Splice_Site	DEL	ACTTC	-	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124350061_124350065delACTTC	uc003yqh.4	-	21	2963	c.2855_splice	c.e21-1	p.V952_splice	ATAD2_uc011lii.2_Splice_Site_p.V743_splice|ATAD2_uc003yqi.4_Splice_Site	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	952					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)			AGCCTGCAAAACTTCACATGAATGG	0.410													18	130	---	---	---	---					
COL22A1	169044	broad.mit.edu	37	8	139809072	139809072	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:139809072delT	uc003yvd.3	-	11	2033	c.1586delA	c.(1585-1587)aagfs	p.K529fs		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	529	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)			7	785	---	---	---	---					
RNASEH2C	84153	broad.mit.edu	37	11	65487262	65487273	+	In_Frame_Del	DEL	CGGGCACCTGTG	-	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:65487262_65487273delCGGGCACCTGTG	uc001ofn.3	-	3	656_667	c.476_487delCACAGGTGCCCG	c.(475-489)gcacaggtgcccgag>gag	p.AQVP159del	RNASEH2C_uc001ofm.3_Non-coding_Transcript	NM_032193	NP_115569	Q8TDP1	RNH2C_HUMAN	Homo sapiens ribonuclease H2, subunit C (RNASEH2C), mRNA.	159					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						TCTCAGTCCTCGGGCACCTGTGCGTGAATCTG	0.528													15	81	---	---	---	---					
C12orf57	113246	broad.mit.edu	37	12	7053872	7053877	+	In_Frame_Del	DEL	GAGGGC	-	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:7053872_7053877delGAGGGC	uc009zfj.1	+	2	622_627	c.358_363delGAGGGC	c.(358-363)gagggcdel	p.EG120del	C12orf57_uc001qrz.3_Intron|PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank			Q99622	C10_HUMAN	Homo sapiens chromosome 12 open reading frame 57 (C12orf57), mRNA.	0										kidney(1)|large_intestine(1)	2						TGGGTCGGGAGAGGGCGCCGGATCTG	0.636											OREG0011073|OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	13	62	---	---	---	---					
BRCA2	675	broad.mit.edu	37	13	32906912	32906912	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr13:32906912delA	uc001uub.1	+	9	1524	c.1297delA	c.(1297-1299)aacfs	p.N433fs	BRCA2_uc001uua.1_Frame_Shift_Del_p.N310fs	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	433					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGACACAGAGAACAAAAGAAA	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			82	149	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51322517	51322527	+	Frame_Shift_Del	DEL	GGCTTATTGGG	-	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:51322517_51322527delGGCTTATTGGG	uc002ptk.1	-	4	751_761	c.712_722delCCCAATAAGCC	c.(712-723)cccaataagcctfs	p.P238fs	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	238	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCGACAGAAGGCTTATTGGGGGTGCCACAA	0.583													13	147	---	---	---	---					
SGSM1	129049	broad.mit.edu	37	22	25246361	25246381	+	In_Frame_Del	DEL	CCTGGACAAAATTGTGCATTA	-	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:25246361_25246381delCCTGGACAAAATTGTGCATTA	uc003abg.2	+	4	574_594	c.417_437delCCTGGACAAAATTGTGCATTA	c.(415-438)gtcctggacaaaattgtgcattac>gtc	p.LDKIVHY140del	SGSM1_uc010guu.1_In_Frame_Del_p.LDKIVHY140del|SGSM1_uc003abh.2_In_Frame_Del_p.LDKIVHY140del|SGSM1_uc003abj.2_In_Frame_Del_p.LDKIVHY140del|SGSM1_uc003abi.1_In_Frame_Del_p.LDKIVHY115del|SGSM1_uc003abf.2_In_Frame_Del_p.LDKIVHY140del	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	140	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTGAGAAGGTCCTGGACAAAATTGTGCATTACCTTGTGGAA	0.557											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	36	---	---	---	---					
