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
CASP8	841	broad.mit.edu	37	2	202151199	202151199	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:202151199C>T	ENST00000358485.4	+	9	1695	c.1499C>T	c.(1498-1500)aCc>aTc	p.T500I	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000432109.2_Missense_Mutation_p.T441I|CASP8_ENST00000264274.9_Missense_Mutation_p.T357I|CASP8_ENST00000323492.7_Missense_Mutation_p.T426I|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.T458I	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	441					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GATATTCTCACCATCCTGACT	0.413000										HNSCC(4;0.00038)			4	30					0	0	0.000248	0	0
DHDDS	79947	broad.mit.edu	37	1	26769228	26769228	+	Missense_Mutation	SNP	C	C	T	rs148606976		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:26769228C>T	ENST00000360009.2	+	4	264	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	DHDDS_ENST00000236342.7_Missense_Mutation_p.R63W|DHDDS_ENST00000427245.2_Missense_Mutation_p.R63W|DHDDS_ENST00000526219.1_Missense_Mutation_p.R63W|DHDDS_ENST00000525682.2_Missense_Mutation_p.R63W|DHDDS_ENST00000374185.3_Missense_Mutation_p.R63W|DHDDS_ENST00000531955.1_3'UTR	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	63							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCAGACTCTGCGGTGGTGTTT	0.493000													46	119					0	0	0.003610	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	85					0	0	0.000248	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229894	140229894	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:140229894C>T	ENST00000378122.3	+	1	2538	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A605V|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTACAACGCGTGGCTTTCA	0.682000													9	91					0	0	0.006214	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124423	142124423	+	RNA	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:142124423C>T	ENST00000390376.2	-	0	54																											CCAGCATTCACTGGACCTGCA	0.547000													4	91					0	0	0.000248	0	0
AP3S1	1176	broad.mit.edu	37	5	115205749	115205749	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:115205749G>C	ENST00000316788.7	+	3	754	c.197G>C	c.(196-198)aGa>aCa	p.R66T		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	66					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	p.R66T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		CTGATTTATAGACATTATGCA	0.303000													3	81					0	0	0.004672	0	0
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	Translation_Start_Site	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000422325.1_Silent_p.D49D			C9JSV9	C9JSV9_HUMAN	zinc finger protein 717						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502000													3	18					0	0	0.004672	0	0
AGT	183	broad.mit.edu	37	1	230846071	230846071	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:230846071C>T	ENST00000366667.4	-	2	740	c.526G>A	c.(526-528)Gat>Aat	p.D176N		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	176					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TTGTGCGCATCCAGCCGGGAG	0.627000													8	66					0	0	0.003080	0	0
IFT43	112752	broad.mit.edu	37	14	76452140	76452140	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:76452140T>A	ENST00000556742.1	+	1	14	c.11T>A	c.(10-12)tTg>tAg	p.L4*	IFT43_ENST00000314067.6_Nonsense_Mutation_p.L4*|IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000238628.6_Nonsense_Mutation_p.L4*	NM_001255995.1	NP_001242924.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	4					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ATGGAGGATTTGCTCGACTTG	0.627000													5	44					0	0	0.001168	0	0
CHSY1	22856	broad.mit.edu	37	15	101719015	101719015	+	Silent	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:101719015A>G	ENST00000254190.3	-	3	1462	c.987T>C	c.(985-987)caT>caC	p.H329H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	329					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTATTGTGCGATGGCGGAGCT	0.498000													9	79					0	0	0.008291	0	0
PSMB6	5694	broad.mit.edu	37	17	4700737	4700737	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:4700737T>C	ENST00000270586.3	+	3	226	c.175T>C	c.(175-177)Tac>Cac	p.Y59H		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CTGCAGGTCCTACATCGCCAA	0.547000													3	192					0	0	0.004672	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254188	39254188	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:39254188C>A	ENST00000333822.4	-	1	205	c.149G>T	c.(148-150)tGc>tTc	p.C50F		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	50	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CTGGGGTCTGCAGCAGCAGGA	0.652000													14	61					6.72482e-11	9.14093e-11	0.003163	1	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													8	33					0	0	0.004482	0	0
ADCY7	113	broad.mit.edu	37	16	50347892	50347892	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:50347892C>T	ENST00000394697.2	+	23	3115	c.2775C>T	c.(2773-2775)agC>agT	p.S925S	ADCY7_ENST00000254235.3_Silent_p.S925S			P51828	ADCY7_HUMAN	adenylate cyclase 7	925	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCAAGTTCAGCGGCGTGGAGA	0.617000													6	57					0	0	0.001168	0	0
PANX3	116337	broad.mit.edu	37	11	124487352	124487352	+	Silent	SNP	C	C	T	rs147550190		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:124487352C>T	ENST00000284288.2	+	3	574	c.507C>T	c.(505-507)tcC>tcT	p.S169S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	169					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.S169S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		AGAAGAGTTCCGACCCCTATG	0.458000													19	105					0	0	0.001523	0	0
CD80	941	broad.mit.edu	37	3	119263487	119263487	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:119263487C>A	ENST00000264246.3	-	3	690	c.328G>T	c.(328-330)Gac>Tac	p.D110Y	CD80_ENST00000478182.1_Missense_Mutation_p.D110Y|CD80_ENST00000383668.3_Missense_Mutation_p.D110Y|CD80_ENST00000383669.3_Missense_Mutation_p.D110Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	110	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GTGCCCTCGTCAGATGGGCGC	0.483000													10	86					0.000673444	0.000854032	0.008291	1	0
CNNM4	26504	broad.mit.edu	37	2	97427064	97427064	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:97427064G>A	ENST00000377075.2	+	1	426	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	110					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CAGCTGCCTCGAGCTCACCAA	0.632000													10	53					0	0	0.008291	0	0
EBF1	1879	broad.mit.edu	37	5	158522653	158522653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:158522653C>T	ENST00000313708.6	-	4	668	c.386G>A	c.(385-387)cGc>cAc	p.R129H	EBF1_ENST00000517373.1_Missense_Mutation_p.R129H|EBF1_ENST00000380654.4_Missense_Mutation_p.R129H|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	129					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.R129H(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCAATGAGGCGCACGTAGAA	0.483000			T	HMGA2	lipoma								15	72					0	0	0.006122	0	0
ZPBP2	124626	broad.mit.edu	37	17	38027749	38027749	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:38027749C>A	ENST00000377940.3	+	3	350	c.211C>A	c.(211-213)Cag>Aag	p.Q71K	ZPBP2_ENST00000584588.1_Missense_Mutation_p.Q93K|ZPBP2_ENST00000348931.4_Missense_Mutation_p.Q93K	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	93					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGAAACTGGACAGCTGATGGT	0.294000													6	60					0.00198382	0.00250182	0.001984	1	0
PHLPP2	23035	broad.mit.edu	37	16	71718486	71718486	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:71718486G>A	ENST00000393524.2	-	4	1361	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	PHLPP2_ENST00000360429.3_Missense_Mutation_p.R210W|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R210W|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R210W|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R245W			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	210	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAGTATTGCCGTCGCTTCACT	0.478000													8	37					0	0	0.003080	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	83					0	0	0.004672	0	0
ARMC5	79798	broad.mit.edu	37	16	31477646	31477646	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:31477646C>T	ENST00000408912.3	+	8	2846	c.2529C>T	c.(2527-2529)ccC>ccT	p.P843P	ARMC5_ENST00000412665.2_Silent_p.P392P|ARMC5_ENST00000268314.4_Silent_p.P748P|ARMC5_ENST00000563544.1_Silent_p.P748P|ARMC5_ENST00000538189.1_Silent_p.P780P|ARMC5_ENST00000457010.2_3'UTR			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	748							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCCAGCTCCCGACCTGCACT	0.667000													3	32					0	0	0.004672	0	0
FLT1	2321	broad.mit.edu	37	13	28895620	28895620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:28895620C>T	ENST00000282397.4	-	23	3405	c.3154G>A	c.(3154-3156)Gat>Aat	p.D1052N	FLT1_ENST00000543394.1_Missense_Mutation_p.D75N|FLT1_ENST00000540678.1_Missense_Mutation_p.D270N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1052	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTCACATAATCGGGGTTCTTA	0.393000													5	110					0	0	0.000602	0	0
CPB2	1361	broad.mit.edu	37	13	46627851	46627851	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:46627851G>A	ENST00000181383.4	-	11	1186	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Intron|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	390					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATCCGTATGTGCCCGTATCTC	0.438000													12	70					0	0	0.000978	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22606902	22606902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:22606902C>T	ENST00000602390.1	+	2	238	c.229C>T	c.(229-231)Cga>Tga	p.R77*	COMMD3_ENST00000483684.1_3'UTR|COMMD3-BMI1_ENST00000463409.2_3'UTR|COMMD3_ENST00000376836.3_Nonsense_Mutation_p.R77*	NM_001204062.1	NP_001190991.1	P35226	BMI1_HUMAN		0					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										AGGAAAGCACCGAGCTGACAA	0.338000													7	65					0	0	0.001984	0	0
GINM1	116254	broad.mit.edu	37	6	149901732	149901732	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:149901732G>A	ENST00000367419.5	+	6	711	c.590G>A	c.(589-591)aGt>aAt	p.S197N		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		TGGGTAGAAAGTGTTAGTTCA	0.408000													12	70					0	0	0.001855	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58357758	58357758	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:58357758G>C	ENST00000249750.4	-	1	858	c.91C>G	c.(91-93)Ccc>Gcc	p.P31A	ALDH1A2_ENST00000537372.1_5'UTR|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.P31A|CTD-2330J20.2_ENST00000559684.1_RNA|ALDH1A2_ENST00000558231.1_Intron	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	31					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCGAGATTGGGCGTGGGCGAC	0.627000													4	53					0	0	0.000248	0	0
DNAH3	55567	broad.mit.edu	37	16	20990733	20990733	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:20990733C>G	ENST00000261383.3	-	50	7994	c.7995G>C	c.(7993-7995)ctG>ctC	p.L2665L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2665	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTGCTATTCAGGAGCGTCT	0.468000													8	91					0	0	0.003080	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984985	118984985	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:118984985G>T	ENST00000336702.3	+	13	2181	c.1822G>T	c.(1822-1824)Gat>Tat	p.D608Y	C2CD2L_ENST00000528586.1_Missense_Mutation_p.D355Y	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	607						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						AACCCGTTCGGATATTTCTGA	0.572000													11	142					1.08611e-07	1.42512e-07	0.000978	1	0
CA6	765	broad.mit.edu	37	1	9022705	9022705	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:9022705C>T	ENST00000377443.2	+	5	565	c.561C>T	c.(559-561)atC>atT	p.I187I	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Silent_p.I187I|CA6_ENST00000377442.2_Silent_p.I127I	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	187					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCAACATCAAGTACCCAG	0.507000													12	66					0	0	0.000978	0	0
SGK2	10110	broad.mit.edu	37	20	42213608	42213608	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:42213608C>G	ENST00000373100.1	+	14	1516	c.1056C>G	c.(1054-1056)ttC>ttG	p.F352L	SGK2_ENST00000341458.4_Missense_Mutation_p.F412L|SGK2_ENST00000373092.3_Missense_Mutation_p.F352L|SGK2_ENST00000373077.1_Missense_Mutation_p.F351L|SGK2_ENST00000426287.1_Missense_Mutation_p.F378L|SGK2_ENST00000423407.3_Missense_Mutation_p.F352L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	412	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAAGTGCATTCCTGGGATTTT	0.498000													18	134					0	0	0.004990	0	0
NANP	140838	broad.mit.edu	37	20	25604502	25604502	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:25604502A>T	ENST00000304788.3	-	1	309	c.83T>A	c.(82-84)aTg>aAg	p.M28K		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	28					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						TACCTCCAACATGCCTCTCCT	0.692000													5	45					0	0	0.001168	0	0
LAMP2	3920	broad.mit.edu	37	X	119565263	119565263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:119565263G>A	ENST00000200639.4	-	9	1284	c.1148C>T	c.(1147-1149)gCt>gTt	p.A383V	LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	383					platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGCCAAGGCAGCTCCCACCGC	0.448000													28	98					0	0	0.007291	0	0
KDM2B	84678	broad.mit.edu	37	12	122012498	122012498	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:122012498C>T	ENST00000377069.4	-	4	664	c.257_splice	c.e4-1	p.K86_splice	KDM2B_ENST00000377071.4_Splice_Site_p.K117_splice|KDM2B_ENST00000538046.2_Splice_Site_p.K117_splice|KDM2B_ENST00000536437.1_5'UTR	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	117					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGTCAGGCATCCTGGGGAAAG	0.542000													6	66					0	0	0.001984	0	0
OR4C11	219429	broad.mit.edu	37	11	55371657	55371657	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:55371657A>G	ENST00000302231.4	-	1	217	c.193T>C	c.(193-195)Tcc>Ccc	p.S65P		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCTGCAAAGGACAAATAAAAT	0.403000													9	84					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179477175	179477175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:179477175C>T	ENST00000589042.1	-	266	50301	c.50077G>A	c.(50077-50079)Gtc>Atc	p.V16693I	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V15052I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V7628I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V7753I|TTN_ENST00000342992.6_Missense_Mutation_p.V14125I|TTN_ENST00000342175.6_Missense_Mutation_p.V7820I|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15052	Fibronectin type-III 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCGCCTGACGTCTCTCTTT	0.463000													6	41					0	0	0.001984	0	0
ADSS	159	broad.mit.edu	37	1	244579342	244579342	+	Missense_Mutation	SNP	G	G	A	rs147946123	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:244579342G>A	ENST00000366535.3	-	11	1425	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	370					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTTGATTTCCGTAAACATGTC	0.338000													3	31					0	0	0.000248	0	0
ENAM	10117	broad.mit.edu	37	4	71510266	71510266	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:71510266G>A	ENST00000396073.3	+	9	3404	c.3123G>A	c.(3121-3123)gaG>gaA	p.E1041E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1041					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGAAAATGAGAGTGAGAGGC	0.448000													7	57					0	0	0.003080	0	0
TCHH	7062	broad.mit.edu	37	1	152083257	152083257	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:152083257C>T	ENST00000368804.1	-	2	2435	c.2436G>A	c.(2434-2436)ccG>ccA	p.P812P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	812					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCCTCCGGGAGAAACC	0.701000													7	65					0	0	0.001984	0	0
WDR66	144406	broad.mit.edu	37	12	122386953	122386953	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:122386953A>G	ENST00000288912.4	+	8	2109	c.1255A>G	c.(1255-1257)Ata>Gta	p.I419V	WDR66_ENST00000397454.2_Missense_Mutation_p.I419V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	419							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AACACGGGCAATATATTATGC	0.274000													7	59					0	0	0.006214	0	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	G	rs104894230		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:534288C>G	ENST00000417302.1	-	2	222	c.35G>C	c.(34-36)gGc>gCc	p.G12A	HRAS_ENST00000311189.7_Missense_Mutation_p.G12A|HRAS_ENST00000451590.1_Missense_Mutation_p.G12A|HRAS_ENST00000397596.2_Missense_Mutation_p.G12A|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12A	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647000	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			9	46					0	0	0.006214	0	0
GPR98	84059	broad.mit.edu	37	5	90074703	90074703	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:90074703T>C	ENST00000405460.2	+	64	12967	c.12871T>C	c.(12871-12873)Tcc>Ccc	p.S4291P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4291					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATCATCCGTTCCAGTGGAGA	0.433000													16	150					0	0	0.004990	0	0
EPHB1	2047	broad.mit.edu	37	3	134670357	134670357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:134670357C>T	ENST00000398015.3	+	3	638	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	90						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CACAGAGATGCGCTTCACTGT	0.537000													4	42					0	0	0.000248	0	0
LTBP3	4054	broad.mit.edu	37	11	65319552	65319552	+	Silent	SNP	G	G	A	rs111330939		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:65319552G>A	ENST00000301873.5	-	8	1690	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	LTBP3_ENST00000322147.4_Silent_p.G474G|LTBP3_ENST00000536982.1_Silent_p.G100G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	474						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGTCACTCTCGCCCTGAATGG	0.597000											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	136					0	0	0.000978	0	0
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:144828704T>G	ENST00000338347.4	+	14	1750	c.1750T>G	c.(1750-1752)Tac>Gac	p.Y584D	NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Y182D					neuroblastoma breakpoint family, member 9									p.L657L(3)|p.Y584D(1)		NS(2)|prostate(1)	3						CTTCGCCCTTTACGTGGACAA	0.438000													7	296					0	0	0.001855	0	0
DYRK1A	1859	broad.mit.edu	37	21	38877706	38877706	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr21:38877706G>C	ENST00000339659.3	+	9	2803	c.1333G>C	c.(1333-1335)Gac>Cac	p.D445H	DYRK1A_ENST00000398956.2_Missense_Mutation_p.D454H|DYRK1A_ENST00000398960.2_Missense_Mutation_p.D454H|DYRK1A_ENST00000451934.1_Missense_Mutation_p.D454H|DYRK1A_ENST00000455387.2_Missense_Mutation_p.D226H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.D454H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.D454H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	454	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GAAGTTCAAAGACCTCATTTT	0.453000													7	79					0	0	0.001984	0	0
NEUROD6	63974	broad.mit.edu	37	7	31377952	31377952	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:31377952C>G	ENST00000297142.3	-	2	1253	c.931G>C	c.(931-933)Gac>Cac	p.D311H		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	311					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGTGGCTGTCGGTGGGCAAC	0.448000													8	71					0	0	0.006214	0	0
AAMP	14	broad.mit.edu	37	2	219131638	219131638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:219131638C>T	ENST00000248450.4	-	4	636	c.466G>A	c.(466-468)Ggc>Agc	p.G156S	AAMP_ENST00000444053.1_Missense_Mutation_p.G157S|AAMP_ENST00000420660.1_Missense_Mutation_p.G137S			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	156					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCAAGAGGCCACTCATGTCC	0.527000													27	69					0	0	0.006320	0	0
SNRPD3	6634	broad.mit.edu	37	22	24953663	24953663	+	Silent	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:24953663T>A	ENST00000215829.3	+	2	608	c.21T>A	c.(19-21)atT>atA	p.I7I	SNRPD3_ENST00000402849.1_Silent_p.I7I	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	7					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						GTGTGCCGATTAAAGTACTGC	0.478000													13	93					0	0	0.002450	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512000													3	162					0	0	0.004672	0	0
VWA3B	200403	broad.mit.edu	37	2	98779314	98779314	+	Splice_Site	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:98779314G>C	ENST00000477737.1	+	8	1193	c.988_splice	c.e8-1	p.G330_splice	VWA3B_ENST00000435344.1_Splice_Site_p.G330_splice|VWA3B_ENST00000451075.2_Splice_Site_p.G180_splice	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	330										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCCCTTTTAGGAGCTGGAGTC	0.612000													5	32					0	0	0.000602	0	0
ZIC2	7546	broad.mit.edu	37	13	100635244	100635244	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:100635244G>C	ENST00000376335.3	+	1	1219	c.926G>C	c.(925-927)cGc>cCc	p.R309P		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	309					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGTGTCCGCGCGAGGGCAAG	0.622000													15	127					0	0	0.001523	0	0
METTL17	64745	broad.mit.edu	37	14	21464803	21464803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:21464803C>T	ENST00000339374.6	+	13	1431	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000382985.4_Missense_Mutation_p.H400Y|METTL17_ENST00000556670.2_Missense_Mutation_p.H400Y	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	400					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TCGCCATGTGCATTGTCACTT	0.577000													7	77					0	0	0.001984	0	0
VCAN	1462	broad.mit.edu	37	5	82817330	82817330	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:82817330G>A	ENST00000265077.3	+	7	3770	c.3205G>A	c.(3205-3207)Gat>Aat	p.D1069N	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D1069N|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.D1021N	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1069	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAAGAGGGCGATGGATCAGC	0.463000													10	53					0	0	0.008291	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221562	56221562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:56221562C>T	ENST00000357606.3	-	3	1170	c.881G>A	c.(880-882)tGg>tAg	p.W294*	DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.W294*|DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.W294*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	294					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCGCCCTGTCCACACTCCCAT	0.498000													9	89					0	0	0.006214	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479608	156479608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:156479608G>C	ENST00000339252.3	-	3	969	c.437C>G	c.(436-438)aCg>aGg	p.T146R	HAVCR1_ENST00000544197.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T146R	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	146	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGGTGCTCGTTCGAACAGT	0.468000													60	469					0	0	0.003610	0	0
POTEH	23784	broad.mit.edu	37	22	16287402	16287402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:16287402C>T	ENST00000343518.6	-	1	535	c.484G>A	c.(484-486)Gac>Aac	p.D162N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	162										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AAAGCGCTGTCGTCGTAGTCT	0.587000													20	185					0	0	0.001523	0	0
STRADB	55437	broad.mit.edu	37	2	202337718	202337718	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:202337718G>A	ENST00000194530.3	+	5	599	c.234G>A	c.(232-234)cgG>cgA	p.R78R	STRADB_ENST00000392249.2_Silent_p.R78R	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	78	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	p.R78R(2)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATCTTGCACGGCATACTCCCA	0.353000													4	125					0	0	0.000248	0	0
ZNF835	90485	broad.mit.edu	37	19	57175375	57175375	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:57175375C>T	ENST00000537055.2	-	2	1423	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGCTGAAGGCGGCCCCGCAT	0.657000													9	63					0	0	0.004482	0	0
ARRB1	408	broad.mit.edu	37	11	74989766	74989766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:74989766G>A	ENST00000420843.2	-	8	602	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	ARRB1_ENST00000360025.3_Missense_Mutation_p.R169W|ARRB1_ENST00000393505.4_Missense_Mutation_p.R169W	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	169					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TGAACCTTCCGGATGACCAGA	0.592000													19	138					0	0	0.001523	0	0
ZNF607	84775	broad.mit.edu	37	19	38190161	38190161	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:38190161G>A	ENST00000355202.4	-	5	1466	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.R290C	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAAAACTGACGAAAGGCCTTT	0.428000													10	76					0	0	0.006214	0	0
CTNNB1	1499	broad.mit.edu	37	3	41275708	41275708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:41275708C>T	ENST00000349496.5	+	10	1883	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*	CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.R535*|CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.R535*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.R528*|CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.R535*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	535					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGCCATTCCACGACTAGTTCA	0.488000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				12	81					0	0	0.000978	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718785	142718785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:142718785G>A	ENST00000381779.4	-	2	365	c.140C>T	c.(139-141)tCa>tTa	p.S47L	SLITRK4_ENST00000338017.4_Missense_Mutation_p.S47L|SLITRK4_ENST00000356928.1_Missense_Mutation_p.S47L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	47						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTAGACTGAAACCTTCTC	0.363000													10	27					0	0	0.008291	0	0
AGT	183	broad.mit.edu	37	1	230841942	230841942	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:230841942C>T	ENST00000366667.4	-	3	1075	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	287					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGCCCTTCATCTTCCCTGAAA	0.607000													6	39					0	0	0.001168	0	0
EPHA1	2041	broad.mit.edu	37	7	143088618	143088618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:143088618G>A	ENST00000275815.3	-	18	2949	c.2863C>T	c.(2863-2865)Cag>Tag	p.Q955*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	955	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATTCCCATCTGCGTCAGGTCC	0.622000													6	33					0	0	0.001984	0	0
USO1	8615	broad.mit.edu	37	4	76721831	76721831	+	Silent	SNP	A	A	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:76721831A>C	ENST00000538159.1	+	17	1770	c.1770A>C	c.(1768-1770)ctA>ctC	p.L590L	USO1_ENST00000514213.2_Silent_p.L566L			O60763	USO1_HUMAN	USO1 vesicle transport factor	581	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAGAGAAACTAGGATTTATTA	0.353000													9	77					0	0	0.006214	0	0
SDK1	221935	broad.mit.edu	37	7	4014086	4014086	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:4014086A>T	ENST00000404826.2	+	13	2042	c.1903A>T	c.(1903-1905)Agc>Tgc	p.S635C	SDK1_ENST00000389531.3_Missense_Mutation_p.S635C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	635	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTTCTCATCAGCCAGACGTG	0.562000													11	49					0	0	0.000978	0	0
PMF1	11243	broad.mit.edu	37	1	156206091	156206091	+	Silent	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:156206091G>T	ENST00000368277.3	+	4	390	c.381G>T	c.(379-381)ggG>ggT	p.G127G	PMF1_ENST00000567140.1_Intron|PMF1_ENST00000565805.1_Intron|PMF1_ENST00000368273.4_Silent_p.G129G|PMF1_ENST00000368279.3_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1-BGLAP_ENST00000490491.1_Silent_p.G127G|PMF1-BGLAP_ENST00000320139.5_Intron	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					GCCCCAGCGGGATCCCAGAGA	0.617000													9	110					1.76689e-08	2.33189e-08	0.006214	1	0
VASH2	79805	broad.mit.edu	37	1	213146032	213146032	+	Missense_Mutation	SNP	G	G	A	rs150945050		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:213146032G>A	ENST00000366968.4	+	7	763	c.413G>A	c.(412-414)cGc>cAc	p.R138H	VASH2_ENST00000366965.2_Missense_Mutation_p.R159H|VASH2_ENST00000366966.2_Missense_Mutation_p.R138H|VASH2_ENST00000366964.3_Missense_Mutation_p.R61H|VASH2_ENST00000366967.2_Missense_Mutation_p.R99H|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000517399.1_Missense_Mutation_p.R203H	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	203					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGCAATGGCCGCTATGGCTCA	0.502000													10	82					0	0	0.006214	0	0
PTX4	390667	broad.mit.edu	37	16	1537772	1537772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:1537772C>T	ENST00000447419.2	-	2	366	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	PTX4_ENST00000293922.1_Missense_Mutation_p.R109Q|PTX4_ENST00000440447.2_Missense_Mutation_p.R114Q			Q96A99	PTX4_HUMAN	pentraxin 4, long	114						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TTTCCGGCCTCGGCGCTGCAG	0.687000													13	77					0	0	0.003163	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42115756	42115756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:42115756G>A	ENST00000457542.2	+	29	3996	c.3710G>A	c.(3709-3711)cGg>cAg	p.R1237Q	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1120Q|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1076Q|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1243Q|MAPKBP1_ENST00000514566.1_Intron	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1243										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CGTCCGTCTCGGCCTCACTCC	0.622000													8	56					0	0	0.004482	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205053	26205053	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:26205053G>C	ENST00000360441.4	+	1	196	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	61					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGTTCTGAAGGTGTTTCTGGA	0.567000													9	87					0	0	0.004482	0	0
TENM2	57451	broad.mit.edu	37	5	167643922	167643922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:167643922G>A	ENST00000519204.1	+	21	3983	c.3865G>A	c.(3865-3867)Gcc>Acc	p.A1289T	TENM2_ENST00000545108.1_Missense_Mutation_p.A1409T|TENM2_ENST00000403607.2_Missense_Mutation_p.A1234T|TENM2_ENST00000518659.1_Missense_Mutation_p.A1410T|TENM2_ENST00000520394.1_Missense_Mutation_p.A1171T					teneurin transmembrane protein 2																		CATGGATGTAGCCCAGGTGAG	0.527000													10	103					0	0	0.008291	0	0
CTCF	10664	broad.mit.edu	37	16	67670670	67670670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:67670670C>T	ENST00000264010.4	+	11	2359	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.Q311*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	639					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCAGAGCCTCAGCCTGTGAC	0.547000													24	182					0	0	0.004656	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524589	10524589	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:10524589C>T	ENST00000396560.2	+	3	339	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Silent_p.L38L|ATF7IP2_ENST00000356427.2_Silent_p.L38L|ATF7IP2_ENST00000324570.5_Silent_p.L38L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGTTGAAGCGCTGAAAACAGC	0.408000													5	35					0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152279952	152279952	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:152279952A>T	ENST00000368799.1	-	3	7445	c.7410T>A	c.(7408-7410)agT>agA	p.S2470R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2470	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTTCCTCCACTGCTTGACC	0.567000									Ichthyosis				36	581					0	0	0.003610	0	0
TOM1L2	146691	broad.mit.edu	37	17	17751077	17751077	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:17751077C>T	ENST00000581396.1	-	14	1342	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	TOM1L2_ENST00000542206.1_Missense_Mutation_p.E347K|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E199K|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E348K|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E421K|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E421K|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E442K|TOM1L2_ENST00000379504.3_Missense_Mutation_p.E466K	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	466					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TTGGCTCTTTCTTCAAGGAAT	0.592000													5	74					0	0	0.001984	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509997	41509997	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:41509997T>C	ENST00000324071.4	+	2	270	c.263T>C	c.(262-264)cTt>cCt	p.L88P	CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.L12P|CYP2B6_ENST00000330446.5_Missense_Mutation_p.L48P	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	88					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGGGAGGCCCTTGTGGACAAG	0.602000													3	118					0	0	0.000248	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72489916	72489916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:72489916G>A	ENST00000373208.1	+	6	1013	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	ADAMTS14_ENST00000373207.1_Nonsense_Mutation_p.W338*	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	338	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GTGTGTCGCTGGGCACACTCC	0.662000													10	74					0	0	0.008291	0	0
PZP	5858	broad.mit.edu	37	12	9304243	9304243	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:9304243C>T	ENST00000261336.2	-	33	4266	c.4238G>A	c.(4237-4239)cGg>cAg	p.R1413Q	PZP_ENST00000381997.2_Missense_Mutation_p.R1199Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CACTTCTGTCCGGCTCACAGA	0.443000													5	33					0	0	0.001984	0	0
POLQ	10721	broad.mit.edu	37	3	121208599	121208599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:121208599G>A	ENST00000264233.5	-	16	3307	c.3179C>T	c.(3178-3180)tCt>tTt	p.S1060F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1060					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACACGCTCCAGAGTCTTTCAG	0.408000								DNA polymerases (catalytic subunits)					10	128					0	0	0.006214	0	0
HTR2B	3357	broad.mit.edu	37	2	231973514	231973514	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:231973514C>A	ENST00000258400.3	-	4	1675	c.1163G>T	c.(1162-1164)cGg>cTg	p.R388L	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	388			R -> W (in dbSNP:rs77982984).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	AAATGCATCCCGAAATGTCTT	0.438000													23	101					1.10923e-09	1.48115e-09	0.002780	1	0
MARK1	4139	broad.mit.edu	37	1	220824023	220824023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:220824023C>T	ENST00000402574.1	+	14	2129	c.1127C>T	c.(1126-1128)aCa>aTa	p.T376I	MARK1_ENST00000366918.4_Missense_Mutation_p.T489I|MARK1_ENST00000366917.4_Missense_Mutation_p.T511I	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	511					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAAAGGACCACAGATCGATAC	0.378000													14	101					0	0	0.007413	0	0
RASAL1	8437	broad.mit.edu	37	12	113553852	113553852	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:113553852T>C	ENST00000546530.1	-	10	1021	c.736A>G	c.(736-738)Aac>Gac	p.N246D	RASAL1_ENST00000548055.1_Missense_Mutation_p.N246D|RASAL1_ENST00000446861.3_Missense_Mutation_p.N246D|RASAL1_ENST00000261729.5_Missense_Mutation_p.N246D|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	246					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCACCCAGGTTCCCCCTGTCC	0.572000													4	51					0	0	0.000248	0	0
SUSD2	56241	broad.mit.edu	37	22	24583660	24583660	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:24583660C>G	ENST00000358321.3	+	12	2274	c.2013C>G	c.(2011-2013)ctC>ctG	p.L671L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	671					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGACCACCCTCAACCCCAGCC	0.592000													9	78					0	0	0.004482	0	0
VPS13D	55187	broad.mit.edu	37	1	12416557	12416557	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:12416557A>G	ENST00000358136.3	+	49	10104	c.9974A>G	c.(9973-9975)tAt>tGt	p.Y3325C	VPS13D_ENST00000356315.4_Missense_Mutation_p.Y3300C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3324					protein localization					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)		TTATTCTGCTATGCTGACAAA	0.468000													22	77					0	0	0.003330	0	0
AHCTF1	25909	broad.mit.edu	37	1	247014644	247014644	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:247014644T>A	ENST00000366508.1	-	33	4905	c.4769A>T	c.(4768-4770)tAc>tTc	p.Y1590F	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.Y1555F|AHCTF1_ENST00000326225.3_Missense_Mutation_p.Y1564F			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1555	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCAAAATTGTACTGAAGCTT	0.378000													10	74					0	0	0.006214	0	0
PCDH17	27253	broad.mit.edu	37	13	58208829	58208829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:58208829A>G	ENST00000377918.3	+	1	2175	c.2149A>G	c.(2149-2151)Atc>Gtc	p.I717V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	717					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CACTATCTCCATCATCCTCCT	0.607000													7	71					0	0	0.001984	0	0
NUP153	9972	broad.mit.edu	37	6	17669742	17669742	+	Silent	SNP	G	G	C	rs149307511	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:17669742G>C	ENST00000262077.2	-	6	887	c.888C>G	c.(886-888)ctC>ctG	p.L296L	NUP153_ENST00000537253.1_Silent_p.L296L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	296					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATTGTGCACTGAGTTGCTTAG	0.383000													5	36					0	0	0.001168	0	0
FAT1	2195	broad.mit.edu	37	4	187524190	187524190	+	Splice_Site	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:187524190T>C	ENST00000441802.2	-	20	11560		c.e20-2			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCTTCCCTCTTCATTCAAAG	0.483000										HNSCC(5;0.00058)			21	70					0	0	0.001523	0	0
LCNL1	401562	broad.mit.edu	37	9	139878139	139878139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139878139C>T	ENST00000408973.2	+	1	695	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	34							binding										GGTGACCTGGCCCTCAAGTTT	0.572000													10	108					0	0	0.000978	0	0
TUBG2	27175	broad.mit.edu	37	17	40818790	40818790	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:40818790A>T	ENST00000251412.7	+	11	1527	c.1328A>T	c.(1327-1329)tAc>tTc	p.Y443F		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	443					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CAGCCAGACTACATTTCCTGG	0.542000													5	62					0	0	0.000602	0	0
ADAM7	8756	broad.mit.edu	37	8	24333985	24333985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:24333985C>T	ENST00000175238.6	+	8	756	c.673C>T	c.(673-675)Cga>Tga	p.R225*	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000520720.1_5'UTR|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.R225*|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	225	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTAAGGAACCGAATTTGGGG	0.328000													5	43					0	0	0.001168	0	0
PSG7	5676	broad.mit.edu	37	19	43428922	43428922	+	RNA	SNP	T	T	A	rs34574649		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:43428922T>A	ENST00000406070.2	-	0	1394					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tctttgaggttccatgggaga	0.413000													12	102					0	0	0.001855	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868742	89868742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:89868742C>T	ENST00000534061.1	+	2	328	c.98C>T	c.(97-99)cCt>cTt	p.P33L	NAALAD2_ENST00000375944.3_Missense_Mutation_p.P33L|NAALAD2_ENST00000321955.4_Missense_Mutation_p.P33L|NAALAD2_ENST00000525171.1_Missense_Mutation_p.P33L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	33					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTATTAAGCCTCTCAAAGAA	0.378000													4	37					0	0	0.000248	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509928	106509928	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:106509928G>C	ENST00000359195.3	+	2	2232	c.1922G>C	c.(1921-1923)aGa>aCa	p.R641T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R641T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R641T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	641					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAAAATGTAAGAGCCATTGCA	0.453000													5	67					0	0	0.000602	0	0
PROM2	150696	broad.mit.edu	37	2	95942354	95942354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:95942354G>A	ENST00000317620.9	+	5	764	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	PROM2_ENST00000317668.4_Missense_Mutation_p.V211M|PROM2_ENST00000542147.1_Missense_Mutation_p.V211M|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000403131.2_Missense_Mutation_p.V211M	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	211						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTGCAGGCCGTGGCACAGCA	0.647000													7	57					0	0	0.003080	0	0
CNOT4	4850	broad.mit.edu	37	7	135047645	135047645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:135047645G>A	ENST00000541284.1	-	12	2464	c.2134C>T	c.(2134-2136)Cgc>Tgc	p.R712C	CNOT4_ENST00000451834.1_Missense_Mutation_p.R709C|CNOT4_ENST00000423368.2_Missense_Mutation_p.R641C|CNOT4_ENST00000361528.4_Missense_Mutation_p.R638C	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCCTAATGGCGGTCCAGTGTT	0.527000													45	399					0	0	0.003610	0	0
SPTAN1	6709	broad.mit.edu	37	9	131348167	131348167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:131348167G>A	ENST00000358161.5	+	19	2814	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E901K|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E901K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	901					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGATGCTAACGAGGCTGAATC	0.572000													10	79					0	0	0.008291	0	0
MRPS35	60488	broad.mit.edu	37	12	27869315	27869315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:27869315C>T	ENST00000081029.3	+	3	316	c.245C>T	c.(244-246)cCt>cTt	p.P82L	MRPS35_ENST00000538315.1_Missense_Mutation_p.P82L	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	82					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TCTGCAGTACCTCTTCCTGTT	0.448000													5	42					0	0	0.000602	0	0
DCDC1	341019	broad.mit.edu	37	11	30914379	30914379	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:30914379T>A	ENST00000597505.1	-	34	5058	c.5059A>T	c.(5059-5061)Aaa>Taa	p.K1687*	DCDC1_ENST00000406071.2_Nonsense_Mutation_p.K425*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	193					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAAATAGTTTTGCCCCAGGCA	0.428000													22	85					0	0	0.001882	0	0
TMCC2	9911	broad.mit.edu	37	1	205238928	205238928	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:205238928T>C	ENST00000358024.3	+	3	1987	c.1598T>C	c.(1597-1599)cTg>cCg	p.L533P	TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.L455P|TMCC2_ENST00000329800.7_Missense_Mutation_p.L293P|TMCC2_ENST00000330675.7_Missense_Mutation_p.L308P	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	533						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGTCTCACCTGGAGGACTCC	0.587000													3	144					0	0	0.000248	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482788	76482788	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:76482788C>T	ENST00000307431.8	+	7	1249	c.864C>T	c.(862-864)gaC>gaT	p.D288D	CNTNAP4_ENST00000476707.1_Silent_p.D292D|CNTNAP4_ENST00000377504.4_Silent_p.D288D|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.D264D	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	289	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCACAGTGGACGAACACAGGC	0.448000													4	26					0	0	0.000248	0	0
PABPC3	5042	broad.mit.edu	37	13	25671496	25671496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:25671496C>T	ENST00000281589.3	+	1	1197	c.1160C>T	c.(1159-1161)gCa>gTa	p.A387V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	387					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGAGAATGGCAAGTGTACGA	0.502000													11	122					0	0	0.008291	0	0
ERLEC1	27248	broad.mit.edu	37	2	54041718	54041718	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:54041718A>T	ENST00000185150.4	+	12	1396	c.1265A>T	c.(1264-1266)gAt>gTt	p.D422V	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.D368V|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	422					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GATATTTGTGATATAACTGAC	0.318000													3	29					0	0	0.000602	0	0
OSBPL10	114884	broad.mit.edu	37	3	31712335	31712335	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:31712335T>C	ENST00000396556.2	-	9	1989	c.1867A>G	c.(1867-1869)Aca>Gca	p.T623A	OSBPL10_ENST00000438237.2_Missense_Mutation_p.T559A	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	623					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AATATCACTGTCGCTGAGTAC	0.547000													12	130					0	0	0.002450	0	0
DIAPH3	81624	broad.mit.edu	37	13	60544103	60544103	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:60544103C>G	ENST00000400324.4	-	17	2269	c.2049G>C	c.(2047-2049)gaG>gaC	p.E683D	DIAPH3_ENST00000377908.2_Missense_Mutation_p.E672D|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E683D|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E613D|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E637D|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E683D	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	683	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAATGTATTCTCAAGTTTAC	0.254000													3	19					0	0	0.004672	0	0
USP19	10869	broad.mit.edu	37	3	49152891	49152891	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:49152891C>T	ENST00000453664.1	-	12	2156	c.1838G>A	c.(1837-1839)cGg>cAg	p.R613Q	USP19_ENST00000417901.1_Missense_Mutation_p.R625Q|USP19_ENST00000398892.3_Missense_Mutation_p.R562Q|USP19_ENST00000398896.1_Missense_Mutation_p.R330Q|USP19_ENST00000398898.2_Missense_Mutation_p.R562Q|USP19_ENST00000398888.2_Missense_Mutation_p.R522Q|USP19_ENST00000434032.2_Missense_Mutation_p.R623Q	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	522					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.R610L(1)|p.R623L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAAGAAGTCCCGGAGTTCCCG	0.542000													13	73					0	0	0.001855	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017977	101017977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:101017977G>A	ENST00000537247.1	+	10	2036	c.1082G>A	c.(1081-1083)tGt>tAt	p.C361Y	GAS2L3_ENST00000547754.1_Missense_Mutation_p.C465Y|GAS2L3_ENST00000266754.5_Missense_Mutation_p.C465Y|GAS2L3_ENST00000539410.1_Missense_Mutation_p.C465Y			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	465					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAAATAAGTGTTCAGGAAAA	0.403000													8	94					0	0	0.003080	0	0
SLC22A10	387775	broad.mit.edu	37	11	63066443	63066443	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:63066443G>T	ENST00000544661.1	+	6	845	c.417G>T	c.(415-417)gaG>gaT	p.E139D	SLC22A10_ENST00000535888.1_Missense_Mutation_p.E84D|SLC22A10_ENST00000526800.1_Missense_Mutation_p.E134D|SLC22A10_ENST00000332793.6_Missense_Mutation_p.E294D|SLC22A10_ENST00000525620.1_3'UTR			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	294						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AACTAGATGAGGGCTTAAAGG	0.413000													8	61					1.12685e-05	1.45338e-05	0.004482	1	0
YLPM1	56252	broad.mit.edu	37	14	75277087	75277087	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:75277087A>G	ENST00000325680.7	+	9	5316	c.5192A>G	c.(5191-5193)gAt>gGt	p.D1731G	YLPM1_ENST00000552421.1_Missense_Mutation_p.D1025G|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1536G	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TATGACCGGGATCGATTTGAC	0.403000													3	115					0	0	0.004672	0	0
ASB4	51666	broad.mit.edu	37	7	95157420	95157420	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:95157420G>C	ENST00000325885.5	+	3	854	c.783G>C	c.(781-783)tgG>tgC	p.W261C	ASB4_ENST00000428113.1_Missense_Mutation_p.W261C	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	261					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AGGCAGCCTGGAACTGTGACC	0.562000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	66					0	0	0.003080	0	0
RPRD1A	55197	broad.mit.edu	37	18	33607246	33607246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr18:33607246C>T	ENST00000399022.4	-	5	685	c.514G>A	c.(514-516)Gat>Aat	p.D172N	RPRD1A_ENST00000337059.5_Missense_Mutation_p.D136N|RPRD1A_ENST00000588737.1_Missense_Mutation_p.D136N|RPRD1A_ENST00000319040.6_Missense_Mutation_p.D172N|RPRD1A_ENST00000590898.1_Missense_Mutation_p.D136N|RPRD1A_ENST00000357384.4_Missense_Mutation_p.D172N	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	172										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTTTCCAGATCTTGTAATGCT	0.353000													10	121					0	0	0.000978	0	0
GFI1	2672	broad.mit.edu	37	1	92948573	92948573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:92948573G>A	ENST00000370332.1	-	3	464	c.146C>T	c.(145-147)gCg>gTg	p.A49V	GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000427103.1_Missense_Mutation_p.A49V|GFI1_ENST00000294702.5_Missense_Mutation_p.A49V	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	49					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCGGGGCTCCGCCTTCGCCCC	0.662000													12	54					0	0	0.001368	0	0
KIAA1984	84960	broad.mit.edu	37	9	139694847	139694847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139694847C>T	ENST00000338005.6	+	5	480	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	149										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCAGATCATCCGCCAGCTGGA	0.592000													3	17					0	0	0.004672	0	0
CDH24	64403	broad.mit.edu	37	14	23524268	23524268	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:23524268C>T	ENST00000397359.3	-	3	755	c.496_splice	c.e3+1	p.G166_splice	CDH24_ENST00000487137.2_Splice_Site_p.G166_splice|CDH24_ENST00000554034.1_Splice_Site_p.G166_splice|CDH24_ENST00000267383.5_Splice_Site_p.G166_splice	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	166	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTGCTCACCGACATTGGAC	0.552000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	107					0	0	0.001882	0	0
DNAH7	56171	broad.mit.edu	37	2	196605563	196605563	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:196605563C>G	ENST00000312428.6	-	64	11895	c.11795G>C	c.(11794-11796)gGa>gCa	p.G3932A	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Missense_Mutation_p.G415A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3932					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCAGGAAGCTCCATCCAGAAA	0.303000													12	82					0	0	0.001368	0	0
NEFL	4747	broad.mit.edu	37	8	24811239	24811239	+	RNA	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:24811239G>T	ENST00000221169.5	-	0	1834							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGGAGCTCTGGGAGTAGCCA	0.562000													12	80					1.61879e-10	2.1873e-10	0.001368	1	0
TCP11L2	255394	broad.mit.edu	37	12	106708250	106708250	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:106708250A>G	ENST00000546625.1	+	3	431	c.272A>G	c.(271-273)cAa>cGa	p.Q91R	TCP11L2_ENST00000299045.3_Missense_Mutation_p.Q91R|TCP11L2_ENST00000547153.1_Missense_Mutation_p.Q91R			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	91										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CAATTGAAACAAGAGGCTCTC	0.413000													8	44					0	0	0.006214	0	0
TM4SF5	9032	broad.mit.edu	37	17	4684093	4684093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:4684093C>G	ENST00000270560.3	+	2	218	c.187C>G	c.(187-189)Ccg>Gcg	p.P63A		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	63						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GGTACTGTGTCCGGGGATTGC	0.577000													7	22					0	0	0.001984	0	0
RTP3	83597	broad.mit.edu	37	3	46539589	46539589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:46539589C>A	ENST00000296142.3	+	1	609	c.37C>A	c.(37-39)Cag>Aag	p.Q13K		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	13					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GCAAATGTTTCAGGAGTTAAT	0.587000													9	73					5.4927e-09	7.29148e-09	0.004482	1	0
MROH8	140699	broad.mit.edu	37	20	35748234	35748234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:35748234C>T	ENST00000400441.3	-	18	2236	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	MROH8_ENST00000217333.8_Missense_Mutation_p.R575Q|MROH8_ENST00000441008.2_Missense_Mutation_p.R732Q					maestro heat-like repeat family member 8																		CACTGGACTCCGGAGAAGCTG	0.463000													11	100					0	0	0.002450	0	0
PLEC	5339	broad.mit.edu	37	8	145003892	145003892	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:145003892C>T	ENST00000322810.4	-	23	3425	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K	PLEC_ENST00000345136.3_Missense_Mutation_p.E949K|PLEC_ENST00000436759.2_Missense_Mutation_p.E976K|PLEC_ENST00000357649.2_Missense_Mutation_p.E953K|PLEC_ENST00000398774.2_Missense_Mutation_p.E917K|PLEC_ENST00000356346.3_Missense_Mutation_p.E935K|PLEC_ENST00000527096.1_Missense_Mutation_p.E972K|PLEC_ENST00000354958.2_Missense_Mutation_p.E927K|PLEC_ENST00000354589.3_Missense_Mutation_p.E949K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1086	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCCGGTCCTCGGGTCCGAAG	0.692000													10	21					0	0	0.001368	0	0
IRF6	3664	broad.mit.edu	37	1	209969692	209969692	+	Splice_Site	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:209969692C>G	ENST00000367021.3	-	4	552		c.e4+1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGGGGCCTCACCTGGGTTAAT	0.512000										HNSCC(57;0.16)			6	53					0	0	0.001984	0	0
TRPA1	8989	broad.mit.edu	37	8	72951161	72951161	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:72951161G>T	ENST00000262209.4	-	19	2441	c.2234C>A	c.(2233-2235)gCt>gAt	p.A745D	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	745						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGAGTTGAAAGCCATTCCTGG	0.328000													10	73					2.74318e-10	3.68463e-10	0.006214	1	0
IL3	3562	broad.mit.edu	37	5	131396411	131396411	+	Silent	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:131396411G>T	ENST00000296870.2	+	1	190	c.12G>T	c.(10-12)ctG>ctT	p.L4L		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	4					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TGAGCCGCCTGCCCGTCCTGC	0.587000													4	56					0.00024832	0.000316678	0.000248	1	0
PRKDC	5591	broad.mit.edu	37	8	48733339	48733339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:48733339G>A	ENST00000314191.2	-	67	9330	c.9274C>T	c.(9274-9276)Caa>Taa	p.Q3092*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q3092*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3093	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACATCATCTTGCAGGAGGTAA	0.378000								Non-homologous end-joining					7	21					0	0	0.001984	0	0
HTRA3	94031	broad.mit.edu	37	4	8305956	8305956	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:8305956C>G	ENST00000307358.2	+	8	1350	c.1146C>G	c.(1144-1146)gtC>gtG	p.V382V		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	382	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TCCCAGAGGTCAGCAGTGGAA	0.597000													9	68					0	0	0.008291	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726614	25726614	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:25726614C>T	ENST00000297012.3	-	1	176	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	48					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TACACTGGTGCGCCTGCCCCT	0.517000													4	65					0	0	0.000248	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165490	134165490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:134165490C>T	ENST00000372264.3	+	1	410	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.R36C	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	36						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCCGGAGCCCCGCAGCTCGGG	0.706000													9	23					0	0	0.004482	0	0
CDR1	1038	broad.mit.edu	37	X	139866350	139866350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:139866350G>A	ENST00000370532.2	-	1	373	c.182C>T	c.(181-183)aCg>aTg	p.T61M		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	61	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGGAAATCCGTGTCTTCCAG	0.438000													32	89					0	0	0.002445	0	0
EP300	2033	broad.mit.edu	37	22	41547861	41547861	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:41547861G>A	ENST00000263253.7	+	15	4061	c.2842G>A	c.(2842-2844)Gaa>Aaa	p.E948K		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	948					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTAAGCATTGAAGGACAGGT	0.478000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				20	121					0	0	0.008871	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17566856	17566856	+	RNA	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr21:17566856C>A	ENST00000458468.1	+	0	409					NR_027790.1																						GGTGGCAGCTCTGGGCTTTTG	0.483000													4	73					0.00024832	0.000316678	0.000248	1	0
POTEA	340441	broad.mit.edu	37	8	43152233	43152233	+	RNA	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr8:43152233C>G	ENST00000522175.2	+	0	372							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGACAATGTCAACTTCATGT	0.388000													5	111					0	0	0.000602	0	0
DPP6	1804	broad.mit.edu	37	7	154561208	154561208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr7:154561208G>A	ENST00000404039.1	+	9	1360	c.773G>A	c.(772-774)cGt>cAt	p.R258H	DPP6_ENST00000332007.3_Missense_Mutation_p.R260H|DPP6_ENST00000427557.1_Missense_Mutation_p.R215H|DPP6_ENST00000377770.3_Missense_Mutation_p.R322H	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	322					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AATGATTCCCGTGTCCCCATC	0.552000													7	52					0	0	0.004482	0	0
DST	667	broad.mit.edu	37	6	56765371	56765371	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:56765371C>T	ENST00000370754.5	-	3	264	c.265G>A	c.(265-267)Gca>Aca	p.A89T				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			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)			CGGGCAGCTGCGGCCGCTGCA	0.507000													11	71					0	0	0.000978	0	0
KPNA5	3841	broad.mit.edu	37	6	117050816	117050816	+	Silent	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:117050816T>C	ENST00000368564.1	+	13	1492	c.1344T>C	c.(1342-1344)ctT>ctC	p.L448L	KPNA5_ENST00000356348.1_Silent_p.L448L			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	445					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TAAATGGACTTGAAAATATTT	0.363000													16	120					0	0	0.003163	0	0
MEFV	4210	broad.mit.edu	37	16	3296524	3296524	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr16:3296524C>T	ENST00000219596.1	-	6	1650		c.e6+1		MEFV_ENST00000536379.1_Splice_Site|MEFV_ENST00000339854.4_Splice_Site|MEFV_ENST00000541159.1_Splice_Site	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever						inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTCGCTGTACCTGTGCAAGA	0.567000													4	40					0	0	0.000248	0	0
FCHO2	115548	broad.mit.edu	37	5	72285313	72285313	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:72285313A>G	ENST00000430046.2	+	3	301	c.185A>G	c.(184-186)aAt>aGt	p.N62S	FCHO2_ENST00000512348.1_Missense_Mutation_p.N62S|FCHO2_ENST00000287761.6_Missense_Mutation_p.N62S|FCHO2_ENST00000341845.6_Missense_Mutation_p.N62S	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	62	FCH.									cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCTGCAAGCAATTATTCACAA	0.348000													3	11					0	0	0.000248	0	0
MED26	9441	broad.mit.edu	37	19	16688252	16688252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:16688252C>T	ENST00000263390.3	-	3	651	c.389G>A	c.(388-390)cGc>cAc	p.R130H	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.R138H	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	130					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GAGGTCATTGCGGCTCTTCAG	0.746000													3	18					0	0	0.004672	0	0
HDDC2	51020	broad.mit.edu	37	6	125619867	125619867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:125619867C>T	ENST00000398153.1	-	3	505	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	HDDC2_ENST00000368377.4_Intron	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	101	HD.						metal ion binding|phosphoric diester hydrolase activity	p.R101P(2)		endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GACCTCTTCTCGCCTATGTTT	0.443000													4	43					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9066795	9066795	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:9066795G>A	ENST00000397910.4	-	3	20854	c.20651C>T	c.(20650-20652)aCa>aTa	p.T6884I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6886	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGTGCTTGTGGAAGGATG	0.478000													28	217					0	0	0.007291	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899105	205899105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:205899105G>T	ENST00000367135.3	-	6	745	c.632C>A	c.(631-633)gCc>gAc	p.A211D	SLC26A9_ENST00000340781.4_Missense_Mutation_p.A211D|SLC26A9_ENST00000367134.2_Missense_Mutation_p.A211D	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	211						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTGCAGGCCGGCGGCCGTCAT	0.577000													9	47					1.12685e-05	1.45338e-05	0.004482	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													6	58					0	0	0.003080	0	0
LRP1B	53353	broad.mit.edu	37	2	141130669	141130669	+	Missense_Mutation	SNP	C	C	T	rs145915063		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:141130669C>T	ENST00000389484.3	-	69	11647	c.10676G>A	c.(10675-10677)cGg>cAg	p.R3559Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3559	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGGAACACCGGAACTGATC	0.368000										TSP Lung(27;0.18)			22	84					0	0	0.001523	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642482	122642482	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:122642482G>A	ENST00000195173.4	-	10	1557	c.1254C>T	c.(1252-1254)aaC>aaT	p.N418N	SEMA5B_ENST00000357599.3_Silent_p.N418N|SEMA5B_ENST00000451055.2_Silent_p.N472N			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	418	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGGGATGGGGTTGGCTATGG	0.557000													13	96					0	0	0.001368	0	0
CDH10	1008	broad.mit.edu	37	5	24537731	24537731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:24537731C>T	ENST00000264463.4	-	3	791	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	95	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTCCATCTCCAGATAAGAT	0.368000										HNSCC(23;0.051)			6	57					0	0	0.001168	0	0
PHC2	1912	broad.mit.edu	37	1	33795788	33795788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:33795788C>T	ENST00000257118.5	-	12	2082	c.2029G>A	c.(2029-2031)Gtg>Atg	p.V677M	PHC2_ENST00000419414.2_Missense_Mutation_p.V678M|PHC2_ENST00000373416.1_Missense_Mutation_p.V142M|PHC2_ENST00000373422.3_Missense_Mutation_p.V283M|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.V142M|PHC2_ENST00000431992.1_Missense_Mutation_p.V648M	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	677					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAAAGTCCCACCCGTTTGGTG	0.582000													7	61					0	0	0.004482	0	0
OR56B1	387748	broad.mit.edu	37	11	5758256	5758256	+	Silent	SNP	G	G	T	rs149260229	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:5758256G>T	ENST00000317121.3	+	1	576	c.510G>T	c.(508-510)gtG>gtT	p.V170V	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CAGTGCCTGTGCTTGCAGCAC	0.473000													17	88					1.15088e-07	1.50143e-07	0.004007	1	0
KLHL13	90293	broad.mit.edu	37	X	117043397	117043397	+	Silent	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:117043397G>C	ENST00000371876.1	-	4	3501	c.1080C>G	c.(1078-1080)gtC>gtG	p.V360V	KLHL13_ENST00000545703.1_Silent_p.V369V|KLHL13_ENST00000469946.1_Silent_p.V360V|KLHL13_ENST00000540167.1_Silent_p.V395V|KLHL13_ENST00000541812.1_Silent_p.V395V|KLHL13_ENST00000371882.1_Silent_p.V360V|KLHL13_ENST00000262820.3_Silent_p.V411V|KLHL13_ENST00000371878.1_Silent_p.V360V|KLHL13_ENST00000539496.1_Silent_p.V414V			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	411					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAAATCTGAAGACTGTATCAA	0.413000													10	44					0	0	0.006214	0	0
GAS2L3	283431	broad.mit.edu	37	12	100995424	100995424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:100995424G>A	ENST00000539410.1	+	4	582	c.196G>A	c.(196-198)Gtt>Att	p.V66I	GAS2L3_ENST00000547754.1_Missense_Mutation_p.V66I|GAS2L3_ENST00000266754.5_Missense_Mutation_p.V66I|GAS2L3_ENST00000537247.1_5'UTR			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	66	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGTATTAAAGTTAAGGCAGA	0.269000													11	82					0	0	0.008291	0	0
COL4A1	1282	broad.mit.edu	37	13	110827095	110827095	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:110827095C>T	ENST00000375820.4	-	38	3321	c.3198_splice	c.e38-1	p.G1067_splice		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1067	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTTGATCTCCCTGCAAGTA	0.463000													32	257					0	0	0.002836	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127072	20127072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr22:20127072C>T	ENST00000334554.7	+	3	439	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	ZDHHC8_ENST00000405930.3_Nonsense_Mutation_p.Q100*|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Nonsense_Mutation_p.Q100*	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	100						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCGAGGTATCCAGGTCCGCAT	0.617000													4	79					0	0	0.000602	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250227	140250227	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:140250227C>T	ENST00000398640.2	+	1	1539	c.1539C>T	c.(1537-1539)agC>agT	p.S513S	PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGAGAGCGGCAAGGTGT	0.697000													26	180					0	0	0.005443	0	0
HELZ2	85441	broad.mit.edu	37	20	62197118	62197118	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:62197118C>T	ENST00000467148.1	-	8	3126	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T	HELZ2_ENST00000427522.2_Silent_p.T450T	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCGCAGCCTCCGTCTGCGCTG	0.687000													9	41					0	0	0.004482	0	0
GRM5	2915	broad.mit.edu	37	11	88583210	88583210	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:88583210T>C	ENST00000418177.2	-	3	1142	c.775A>G	c.(775-777)Aag>Gag	p.K259E	GRM5_ENST00000305432.5_Missense_Mutation_p.K259E|GRM5_ENST00000455756.2_Missense_Mutation_p.K259E|GRM5_ENST00000393297.1_Missense_Mutation_p.K259E|GRM5_ENST00000305447.4_Missense_Mutation_p.K259E			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	259					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTCAGCAGCTTATCAAAGCTC	0.532000													5	50					0	0	0.001168	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074054	8074054	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:8074054C>T	ENST00000377482.5	-	4	828	c.605G>A	c.(604-606)cGt>cAt	p.R202H	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	202					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCCACACCCACGGAAGCTTCG	0.443000													7	38					0	0	0.004482	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834947	27834947	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:27834947G>C	ENST00000331442.3	-	1	412	c.361C>G	c.(361-363)Ccc>Gcc	p.P121A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	121					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGGCTTTGGGCTTGGCTTCC	0.597000													27	181					0	0	0.005443	0	0
TCF12	6938	broad.mit.edu	37	15	57565366	57565366	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr15:57565366T>A	ENST00000267811.5	+	18	2116	c.1812T>A	c.(1810-1812)tgT>tgA	p.C604*	TCF12_ENST00000559710.1_Nonsense_Mutation_p.C238*|TCF12_ENST00000438423.2_Nonsense_Mutation_p.C628*|TCF12_ENST00000452095.2_Nonsense_Mutation_p.C624*|TCF12_ENST00000543579.1_Nonsense_Mutation_p.C458*|TCF12_ENST00000537840.1_Nonsense_Mutation_p.C368*|TCF12_ENST00000559703.1_Nonsense_Mutation_p.C261*|TCF12_ENST00000557843.1_Nonsense_Mutation_p.C604*|TCF12_ENST00000343827.3_Nonsense_Mutation_p.C434*|TCF12_ENST00000333725.5_Nonsense_Mutation_p.C628*	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	604	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCCGAATGTGTCAGCTTCACT	0.458000			T	TEC	extraskeletal myxoid chondrosarcoma								17	85					0	0	0.006122	0	0
ALDOC	230	broad.mit.edu	37	17	26901251	26901251	+	Silent	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr17:26901251A>G	ENST00000226253.4	-	7	1108	c.633T>C	c.(631-633)gcT>gcC	p.A211A	ALDOC_ENST00000395321.2_Silent_p.A211A|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Silent_p.A183A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	211					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TGTACACAGCAGCCAAGACCT	0.567000													18	186					0	0	0.006122	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204394760	204394760	+	Missense_Mutation	SNP	T	T	A	rs143735929		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:204394760T>A	ENST00000367187.3	-	33	5253	c.4697A>T	c.(4696-4698)aAt>aTt	p.N1566I	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N1538I	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1566	C2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTAGGTAGGATTGCAGGTTTT	0.498000													11	59					0	0	0.008291	0	0
UGT2B4	7363	broad.mit.edu	37	4	70352332	70352332	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr4:70352332A>G	ENST00000305107.6	-	4	1131	c.1085T>C	c.(1084-1086)cTt>cCt	p.L362P	UGT2B4_ENST00000381096.3_Missense_Mutation_p.L226P|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.L362P	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	362					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTTACCAAGAAGATCATTCTG	0.338000													10	78					0	0	0.006214	0	0
PLXNA3	55558	broad.mit.edu	37	X	153689702	153689702	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chrX:153689702C>T	ENST00000369682.3	+	3	1033	c.858C>T	c.(856-858)ggC>ggT	p.G286G		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	286	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGCGCGGCGTGGAGTACC	0.637000													22	52					0	0	0.001882	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953756	161953756	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:161953756C>T	ENST00000294794.3	-	8	2385	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A	OLFML2B_ENST00000367940.2_Silent_p.A655A|OLFML2B_ENST00000367938.1_Silent_p.A137A	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	654	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCTCAGGTCCGCGGCATTGA	0.582000													13	71					0	0	0.001368	0	0
GALNT8	26290	broad.mit.edu	37	12	4874614	4874614	+	Missense_Mutation	SNP	C	C	T	rs148196108		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:4874614C>T	ENST00000252318.2	+	10	2000	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	555	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGCTAGTGATCGCTGCCTGAC	0.438000													4	47					0	0	0.000248	0	0
EDNRB	1910	broad.mit.edu	37	13	78492516	78492516	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:78492516A>T	ENST00000377211.4	-	2	615	c.463T>A	c.(463-465)Tcg>Acg	p.S155T	EDNRB_ENST00000334286.5_Missense_Mutation_p.S65T|EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000446573.1_Missense_Mutation_p.S65T	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	65					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GGTGCCAACGACCGCGCCAGA	0.622000													8	82					0	0	0.003080	0	0
LRP10	26020	broad.mit.edu	37	14	23346570	23346570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr14:23346570G>A	ENST00000359591.4	+	7	2667	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	659	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CAGGCCCTGCGAGGCCGCCTG	0.667000													11	91					0	0	0.001368	0	0
PUS7L	83448	broad.mit.edu	37	12	44148515	44148515	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:44148515G>A	ENST00000416848.2	-	2	1022	c.534C>T	c.(532-534)gcC>gcT	p.A178A	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Silent_p.A178A|PUS7L_ENST00000344862.5_Silent_p.A178A|PUS7L_ENST00000551923.1_Silent_p.A178A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	178					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTGCCTAATGGCACTGTGTA	0.358000													10	83					0	0	0.008291	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472570	69472570	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:69472570A>G	ENST00000303714.4	+	18	1970	c.1648A>G	c.(1648-1650)Aac>Gac	p.N550D		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	550	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						tccacctcccaacagggcacc	0.662000									Familial Infantile Hemangioma				6	54					0	0	0.001168	0	0
LMO1	4004	broad.mit.edu	37	11	8252036	8252036	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr11:8252036G>C	ENST00000335790.3	-	2	536	c.41C>G	c.(40-42)tCc>tGc	p.S14C	LMO1_ENST00000534484.1_Missense_Mutation_p.S3C|LMO1_ENST00000428101.2_Missense_Mutation_p.S13C	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	14					cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		GGGCTGGACGGAGAGCATCGG	0.592000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma							15	143					0	0	0.002450	0	0
SPTLC3	55304	broad.mit.edu	37	20	13140735	13140735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr20:13140735C>T	ENST00000399002.2	+	11	1775	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	501					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGCTCGGGCTCGGTTTTGTGT	0.507000													4	83					0	0	0.000602	0	0
CASP8	841	broad.mit.edu	37	2	202151199	202151199	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:202151199C>T	ENST00000358485.4	+	9	1695	c.1499C>T	c.(1498-1500)aCc>aTc	p.T500I	CASP8_ENST00000323492.7_Missense_Mutation_p.T426I|CASP8_ENST00000264274.9_Missense_Mutation_p.T357I|CASP8_ENST00000264275.5_Missense_Mutation_p.T458I|CASP8_ENST00000432109.2_Missense_Mutation_p.T441I|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	441					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GATATTCTCACCATCCTGACT	0.413000										HNSCC(4;0.00038)			4	30					0	0	0.000248	0	0
DHDDS	79947	broad.mit.edu	37	1	26769228	26769228	+	Missense_Mutation	SNP	C	C	T	rs148606976		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:26769228C>T	ENST00000360009.2	+	4	264	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	DHDDS_ENST00000427245.2_Missense_Mutation_p.R63W|DHDDS_ENST00000526219.1_Missense_Mutation_p.R63W|DHDDS_ENST00000525682.2_Missense_Mutation_p.R63W|DHDDS_ENST00000531955.1_3'UTR|DHDDS_ENST00000236342.7_Missense_Mutation_p.R63W|DHDDS_ENST00000374185.3_Missense_Mutation_p.R63W	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	63							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TCAGACTCTGCGGTGGTGTTT	0.493000													46	119					0	0	0.003610	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229894	140229894	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:140229894C>T	ENST00000378122.3	+	1	2538	c.1814C>T	c.(1813-1815)gCg>gTg	p.A605V	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A605V|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTACAACGCGTGGCTTTCA	0.682000													9	91					0	0	0.006214	0	0
FAT1	2195	broad.mit.edu	37	4	187524190	187524190	+	Splice_Site	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr4:187524190T>C	ENST00000441802.2	-	20	11560		c.e20-2			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCTTCCCTCTTCATTCAAAG	0.483000										HNSCC(5;0.00058)			21	70					0	0	0.001523	0	0
AP3S1	1176	broad.mit.edu	37	5	115205749	115205749	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:115205749G>C	ENST00000316788.7	+	3	754	c.197G>C	c.(196-198)aGa>aCa	p.R66T		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	66					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	p.R66T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		CTGATTTATAGACATTATGCA	0.303000													3	81					0	0	0.004672	0	0
AGT	183	broad.mit.edu	37	1	230846071	230846071	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:230846071C>T	ENST00000366667.4	-	2	740	c.526G>A	c.(526-528)Gat>Aat	p.D176N		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	176					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TTGTGCGCATCCAGCCGGGAG	0.627000													8	66					0	0	0.003080	0	0
IFT43	112752	broad.mit.edu	37	14	76452140	76452140	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr14:76452140T>A	ENST00000556742.1	+	1	14	c.11T>A	c.(10-12)tTg>tAg	p.L4*	IFT43_ENST00000238628.6_Nonsense_Mutation_p.L4*|IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000314067.6_Nonsense_Mutation_p.L4*	NM_001255995.1	NP_001242924.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43 homolog (Chlamydomonas)	4					cilium morphogenesis|intraflagellar retrograde transport					endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ATGGAGGATTTGCTCGACTTG	0.627000													5	44					0	0	0.001168	0	0
CHSY1	22856	broad.mit.edu	37	15	101719015	101719015	+	Silent	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr15:101719015A>G	ENST00000254190.3	-	3	1462	c.987T>C	c.(985-987)caT>caC	p.H329H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	329					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTATTGTGCGATGGCGGAGCT	0.498000													9	79					0	0	0.008291	0	0
PSMB6	5694	broad.mit.edu	37	17	4700737	4700737	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr17:4700737T>C	ENST00000270586.3	+	3	226	c.175T>C	c.(175-177)Tac>Cac	p.Y59H		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	59					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CTGCAGGTCCTACATCGCCAA	0.547000													3	192					0	0	0.004672	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254188	39254188	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr17:39254188C>A	ENST00000333822.4	-	1	205	c.149G>T	c.(148-150)tGc>tTc	p.C50F		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	50	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CTGGGGTCTGCAGCAGCAGGA	0.652000													14	61					6.72482e-11	8.96643e-11	0.003163	1	0
ADCY7	113	broad.mit.edu	37	16	50347892	50347892	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr16:50347892C>T	ENST00000394697.2	+	23	3115	c.2775C>T	c.(2773-2775)agC>agT	p.S925S	ADCY7_ENST00000254235.3_Silent_p.S925S			P51828	ADCY7_HUMAN	adenylate cyclase 7	925	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCAAGTTCAGCGGCGTGGAGA	0.617000													6	57					0	0	0.001168	0	0
DIAPH3	81624	broad.mit.edu	37	13	60544103	60544103	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr13:60544103C>G	ENST00000400324.4	-	17	2269	c.2049G>C	c.(2047-2049)gaG>gaC	p.E683D	DIAPH3_ENST00000400330.1_Missense_Mutation_p.E683D|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E672D|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E683D|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E613D|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E637D	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	683	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAATGTATTCTCAAGTTTAC	0.254000													3	19					0	0	0.004672	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	51					0	0	0.000602	0	0
CD80	941	broad.mit.edu	37	3	119263487	119263487	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr3:119263487C>A	ENST00000264246.3	-	3	690	c.328G>T	c.(328-330)Gac>Tac	p.D110Y	CD80_ENST00000478182.1_Missense_Mutation_p.D110Y|CD80_ENST00000383668.3_Missense_Mutation_p.D110Y|CD80_ENST00000383669.3_Missense_Mutation_p.D110Y	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	110	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	GTGCCCTCGTCAGATGGGCGC	0.483000													10	86					0.000673444	0.000839045	0.008291	1	0
CNNM4	26504	broad.mit.edu	37	2	97427064	97427064	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:97427064G>A	ENST00000377075.2	+	1	426	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	110					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CAGCTGCCTCGAGCTCACCAA	0.632000													10	53					0	0	0.008291	0	0
EBF1	1879	broad.mit.edu	37	5	158522653	158522653	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:158522653C>T	ENST00000313708.6	-	4	668	c.386G>A	c.(385-387)cGc>cAc	p.R129H	EBF1_ENST00000517373.1_Missense_Mutation_p.R129H|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.R129H	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	129					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.R129H(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCAATGAGGCGCACGTAGAA	0.483000			T	HMGA2	lipoma								15	72					0	0	0.006122	0	0
ZPBP2	124626	broad.mit.edu	37	17	38027749	38027749	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr17:38027749C>A	ENST00000377940.3	+	3	350	c.211C>A	c.(211-213)Cag>Aag	p.Q71K	ZPBP2_ENST00000348931.4_Missense_Mutation_p.Q93K|ZPBP2_ENST00000584588.1_Missense_Mutation_p.Q93K	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	93					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGAAACTGGACAGCTGATGGT	0.294000													6	60					0.00198382	0.00245821	0.001984	1	0
PHLPP2	23035	broad.mit.edu	37	16	71718486	71718486	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr16:71718486G>A	ENST00000393524.2	-	4	1361	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	PHLPP2_ENST00000568954.1_Missense_Mutation_p.R210W|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R210W|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R210W|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R245W			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	210	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAGTATTGCCGTCGCTTCACT	0.478000													8	37					0	0	0.003080	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	83					0	0	0.004672	0	0
ARMC5	79798	broad.mit.edu	37	16	31477646	31477646	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr16:31477646C>T	ENST00000408912.3	+	8	2846	c.2529C>T	c.(2527-2529)ccC>ccT	p.P843P	ARMC5_ENST00000563544.1_Silent_p.P748P|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Silent_p.P392P|ARMC5_ENST00000268314.4_Silent_p.P748P|ARMC5_ENST00000538189.1_Silent_p.P780P			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	748							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCCAGCTCCCGACCTGCACT	0.667000													3	32					0	0	0.004672	0	0
FLT1	2321	broad.mit.edu	37	13	28895620	28895620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr13:28895620C>T	ENST00000282397.4	-	23	3405	c.3154G>A	c.(3154-3156)Gat>Aat	p.D1052N	FLT1_ENST00000543394.1_Missense_Mutation_p.D75N|FLT1_ENST00000540678.1_Missense_Mutation_p.D270N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1052	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTCACATAATCGGGGTTCTTA	0.393000													5	110					0	0	0.000602	0	0
CPB2	1361	broad.mit.edu	37	13	46627851	46627851	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr13:46627851G>A	ENST00000181383.4	-	11	1186	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G	CPB2_ENST00000439329.3_Intron|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	390					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATCCGTATGTGCCCGTATCTC	0.438000													12	70					0	0	0.000978	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22606902	22606902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr10:22606902C>T	ENST00000602390.1	+	2	238	c.229C>T	c.(229-231)Cga>Tga	p.R77*	COMMD3_ENST00000483684.1_3'UTR|COMMD3_ENST00000376836.3_Nonsense_Mutation_p.R77*|COMMD3-BMI1_ENST00000463409.2_3'UTR	NM_001204062.1	NP_001190991.1	P35226	BMI1_HUMAN		0					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										AGGAAAGCACCGAGCTGACAA	0.338000													7	65					0	0	0.001984	0	0
GINM1	116254	broad.mit.edu	37	6	149901732	149901732	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr6:149901732G>A	ENST00000367419.5	+	6	711	c.590G>A	c.(589-591)aGt>aAt	p.S197N		NM_138785.3	NP_620140.1			glycoprotein integral membrane 1																		TGGGTAGAAAGTGTTAGTTCA	0.408000													12	70					0	0	0.001855	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58357758	58357758	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr15:58357758G>C	ENST00000249750.4	-	1	858	c.91C>G	c.(91-93)Ccc>Gcc	p.P31A	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.P31A|ALDH1A2_ENST00000537372.1_5'UTR|ALDH1A2_ENST00000558231.1_Intron|CTD-2330J20.2_ENST00000559684.1_RNA	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	31					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCGAGATTGGGCGTGGGCGAC	0.627000													4	53					0	0	0.000248	0	0
NANP	140838	broad.mit.edu	37	20	25604502	25604502	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr20:25604502A>T	ENST00000304788.3	-	1	309	c.83T>A	c.(82-84)aTg>aAg	p.M28K		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	28					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						TACCTCCAACATGCCTCTCCT	0.692000													5	45					0	0	0.001168	0	0
DNAH3	55567	broad.mit.edu	37	16	20990733	20990733	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr16:20990733C>G	ENST00000261383.3	-	50	7994	c.7995G>C	c.(7993-7995)ctG>ctC	p.L2665L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2665	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTGCTATTCAGGAGCGTCT	0.468000													8	91					0	0	0.003080	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984985	118984985	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:118984985G>T	ENST00000336702.3	+	13	2181	c.1822G>T	c.(1822-1824)Gat>Tat	p.D608Y	C2CD2L_ENST00000528586.1_Missense_Mutation_p.D355Y	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	607						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						AACCCGTTCGGATATTTCTGA	0.572000													11	142					1.08611e-07	1.39905e-07	0.000978	1	0
CA6	765	broad.mit.edu	37	1	9022705	9022705	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:9022705C>T	ENST00000377443.2	+	5	565	c.561C>T	c.(559-561)atC>atT	p.I187I	CA6_ENST00000377436.3_Silent_p.I187I|CA6_ENST00000377442.2_Silent_p.I127I|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	187					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCAACATCAAGTACCCAG	0.507000													12	66					0	0	0.000978	0	0
SGK2	10110	broad.mit.edu	37	20	42213608	42213608	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr20:42213608C>G	ENST00000373100.1	+	14	1516	c.1056C>G	c.(1054-1056)ttC>ttG	p.F352L	SGK2_ENST00000341458.4_Missense_Mutation_p.F412L|SGK2_ENST00000423407.3_Missense_Mutation_p.F352L|SGK2_ENST00000426287.1_Missense_Mutation_p.F378L|SGK2_ENST00000373077.1_Missense_Mutation_p.F351L|SGK2_ENST00000373092.3_Missense_Mutation_p.F352L			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	412	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAAGTGCATTCCTGGGATTTT	0.498000													18	134					0	0	0.004990	0	0
LAMP2	3920	broad.mit.edu	37	X	119565263	119565263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chrX:119565263G>A	ENST00000200639.4	-	9	1284	c.1148C>T	c.(1147-1149)gCt>gTt	p.A383V	LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000434600.2_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	383					platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGCCAAGGCAGCTCCCACCGC	0.448000													28	98					0	0	0.007291	0	0
KDM2B	84678	broad.mit.edu	37	12	122012498	122012498	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:122012498C>T	ENST00000377069.4	-	4	664	c.257_splice	c.e4-1	p.K86_splice	KDM2B_ENST00000536437.1_5'UTR|KDM2B_ENST00000538046.2_Splice_Site_p.K117_splice|KDM2B_ENST00000377071.4_Splice_Site_p.K117_splice	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	117					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGTCAGGCATCCTGGGGAAAG	0.542000													6	66					0	0	0.001984	0	0
OR4C11	219429	broad.mit.edu	37	11	55371657	55371657	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:55371657A>G	ENST00000302231.4	-	1	217	c.193T>C	c.(193-195)Tcc>Ccc	p.S65P		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCTGCAAAGGACAAATAAAAT	0.403000													9	84					0	0	0.000978	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													5	83					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179477175	179477175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:179477175C>T	ENST00000589042.1	-	266	50301	c.50077G>A	c.(50077-50079)Gtc>Atc	p.V16693I	TTN_ENST00000342175.6_Missense_Mutation_p.V7820I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V14125I|TTN_ENST00000359218.5_Missense_Mutation_p.V7753I|TTN_ENST00000591111.1_Missense_Mutation_p.V15052I|TTN_ENST00000460472.2_Missense_Mutation_p.V7628I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15052	Fibronectin type-III 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCGCCTGACGTCTCTCTTT	0.463000													6	41					0	0	0.001984	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124423	142124423	+	RNA	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr7:142124423C>T	ENST00000390376.2	-	0	54																											CCAGCATTCACTGGACCTGCA	0.547000													4	91					0	0	0.000248	0	0
ADSS	159	broad.mit.edu	37	1	244579342	244579342	+	Missense_Mutation	SNP	G	G	A	rs147946123	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:244579342G>A	ENST00000366535.3	-	11	1425	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	370					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTTGATTTCCGTAAACATGTC	0.338000													3	31					0	0	0.000248	0	0
ENAM	10117	broad.mit.edu	37	4	71510266	71510266	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr4:71510266G>A	ENST00000396073.3	+	9	3404	c.3123G>A	c.(3121-3123)gaG>gaA	p.E1041E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1041					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAGAAAATGAGAGTGAGAGGC	0.448000													7	57					0	0	0.003080	0	0
TCHH	7062	broad.mit.edu	37	1	152083257	152083257	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:152083257C>T	ENST00000368804.1	-	2	2435	c.2436G>A	c.(2434-2436)ccG>ccA	p.P812P		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	812					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCCTCCGGGAGAAACC	0.701000													7	65					0	0	0.001984	0	0
WDR66	144406	broad.mit.edu	37	12	122386953	122386953	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:122386953A>G	ENST00000288912.4	+	8	2109	c.1255A>G	c.(1255-1257)Ata>Gta	p.I419V	WDR66_ENST00000397454.2_Missense_Mutation_p.I419V	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	419							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AACACGGGCAATATATTATGC	0.274000													7	59					0	0	0.006214	0	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	G	rs104894230		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:534288C>G	ENST00000417302.1	-	2	222	c.35G>C	c.(34-36)gGc>gCc	p.G12A	HRAS_ENST00000397596.2_Missense_Mutation_p.G12A|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G12A|HRAS_ENST00000311189.7_Missense_Mutation_p.G12A|HRAS_ENST00000397594.1_Missense_Mutation_p.G12A	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647000	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			9	46					0	0	0.006214	0	0
GPR98	84059	broad.mit.edu	37	5	90074703	90074703	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:90074703T>C	ENST00000405460.2	+	64	12967	c.12871T>C	c.(12871-12873)Tcc>Ccc	p.S4291P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4291					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATCATCCGTTCCAGTGGAGA	0.433000													16	150					0	0	0.004990	0	0
EPHB1	2047	broad.mit.edu	37	3	134670357	134670357	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr3:134670357C>T	ENST00000398015.3	+	3	638	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	90						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CACAGAGATGCGCTTCACTGT	0.537000													4	42					0	0	0.000248	0	0
LTBP3	4054	broad.mit.edu	37	11	65319552	65319552	+	Silent	SNP	G	G	A	rs111330939		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:65319552G>A	ENST00000301873.5	-	8	1690	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	LTBP3_ENST00000322147.4_Silent_p.G474G|LTBP3_ENST00000536982.1_Silent_p.G100G	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	474						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGTCACTCTCGCCCTGAATGG	0.597000											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	136					0	0	0.000978	0	0
DYRK1A	1859	broad.mit.edu	37	21	38877706	38877706	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr21:38877706G>C	ENST00000339659.3	+	9	2803	c.1333G>C	c.(1333-1335)Gac>Cac	p.D445H	DYRK1A_ENST00000398956.2_Missense_Mutation_p.D454H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.D454H|DYRK1A_ENST00000398960.2_Missense_Mutation_p.D454H|DYRK1A_ENST00000455387.2_Missense_Mutation_p.D226H|DYRK1A_ENST00000451934.1_Missense_Mutation_p.D454H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.D454H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	454	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GAAGTTCAAAGACCTCATTTT	0.453000													7	79					0	0	0.001984	0	0
NEUROD6	63974	broad.mit.edu	37	7	31377952	31377952	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr7:31377952C>G	ENST00000297142.3	-	2	1253	c.931G>C	c.(931-933)Gac>Cac	p.D311H		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	311					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGTGGCTGTCGGTGGGCAAC	0.448000													8	71					0	0	0.006214	0	0
AAMP	14	broad.mit.edu	37	2	219131638	219131638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:219131638C>T	ENST00000248450.4	-	4	636	c.466G>A	c.(466-468)Ggc>Agc	p.G156S	AAMP_ENST00000420660.1_Missense_Mutation_p.G137S|AAMP_ENST00000444053.1_Missense_Mutation_p.G157S			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	156					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCAAGAGGCCACTCATGTCC	0.527000													27	69					0	0	0.006320	0	0
SNRPD3	6634	broad.mit.edu	37	22	24953663	24953663	+	Silent	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr22:24953663T>A	ENST00000215829.3	+	2	608	c.21T>A	c.(19-21)atT>atA	p.I7I	SNRPD3_ENST00000402849.1_Silent_p.I7I	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	7					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						GTGTGCCGATTAAAGTACTGC	0.478000													13	93					0	0	0.002450	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512000													3	162					0	0	0.004672	0	0
VWA3B	200403	broad.mit.edu	37	2	98779314	98779314	+	Splice_Site	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:98779314G>C	ENST00000477737.1	+	8	1193	c.988_splice	c.e8-1	p.G330_splice	VWA3B_ENST00000451075.2_Splice_Site_p.G180_splice|VWA3B_ENST00000435344.1_Splice_Site_p.G330_splice	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	330										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCCCTTTTAGGAGCTGGAGTC	0.612000													5	32					0	0	0.000602	0	0
ZIC2	7546	broad.mit.edu	37	13	100635244	100635244	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr13:100635244G>C	ENST00000376335.3	+	1	1219	c.926G>C	c.(925-927)cGc>cCc	p.R309P		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	309					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGTGTCCGCGCGAGGGCAAG	0.622000													15	127					0	0	0.001523	0	0
METTL17	64745	broad.mit.edu	37	14	21464803	21464803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr14:21464803C>T	ENST00000339374.6	+	13	1431	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	METTL17_ENST00000556670.2_Missense_Mutation_p.H400Y|METTL17_ENST00000382985.4_Missense_Mutation_p.H400Y|RP11-84C10.4_ENST00000557335.1_RNA	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	400					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TCGCCATGTGCATTGTCACTT	0.577000													7	77					0	0	0.001984	0	0
VCAN	1462	broad.mit.edu	37	5	82817330	82817330	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:82817330G>A	ENST00000265077.3	+	7	3770	c.3205G>A	c.(3205-3207)Gat>Aat	p.D1069N	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D1069N|VCAN_ENST00000512590.2_Missense_Mutation_p.D1021N|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1069	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAAGAGGGCGATGGATCAGC	0.463000													10	53					0	0	0.008291	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221562	56221562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:56221562C>T	ENST00000357606.3	-	3	1170	c.881G>A	c.(880-882)tGg>tAg	p.W294*	DNAJC14_ENST00000317269.3_Nonsense_Mutation_p.W294*|DNAJC14_ENST00000317287.5_Nonsense_Mutation_p.W294*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	294					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CCGCCCTGTCCACACTCCCAT	0.498000													9	89					0	0	0.006214	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479608	156479608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:156479608G>C	ENST00000339252.3	-	3	969	c.437C>G	c.(436-438)aCg>aGg	p.T146R	HAVCR1_ENST00000425854.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T146R|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T146R	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	146	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTGGTGCTCGTTCGAACAGT	0.468000													60	469					0	0	0.003610	0	0
POTEH	23784	broad.mit.edu	37	22	16287402	16287402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr22:16287402C>T	ENST00000343518.6	-	1	535	c.484G>A	c.(484-486)Gac>Aac	p.D162N		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	162										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						AAAGCGCTGTCGTCGTAGTCT	0.587000													20	185					0	0	0.001523	0	0
STRADB	55437	broad.mit.edu	37	2	202337718	202337718	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:202337718G>A	ENST00000194530.3	+	5	599	c.234G>A	c.(232-234)cgG>cgA	p.R78R	STRADB_ENST00000392249.2_Silent_p.R78R	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	78	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	p.R78R(2)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATCTTGCACGGCATACTCCCA	0.353000													4	125					0	0	0.000248	0	0
ZNF835	90485	broad.mit.edu	37	19	57175375	57175375	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr19:57175375C>T	ENST00000537055.2	-	2	1423	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGCTGAAGGCGGCCCCGCAT	0.657000													9	63					0	0	0.004482	0	0
ARRB1	408	broad.mit.edu	37	11	74989766	74989766	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:74989766G>A	ENST00000420843.2	-	8	602	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	ARRB1_ENST00000393505.4_Missense_Mutation_p.R169W|ARRB1_ENST00000360025.3_Missense_Mutation_p.R169W	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	169					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TGAACCTTCCGGATGACCAGA	0.592000													19	138					0	0	0.001523	0	0
ZNF607	84775	broad.mit.edu	37	19	38190161	38190161	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr19:38190161G>A	ENST00000355202.4	-	5	1466	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C	ZNF607_ENST00000395835.3_Missense_Mutation_p.R290C|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAAAACTGACGAAAGGCCTTT	0.428000													10	76					0	0	0.006214	0	0
CTNNB1	1499	broad.mit.edu	37	3	41275708	41275708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr3:41275708C>T	ENST00000349496.5	+	10	1883	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*	CTNNB1_ENST00000396183.3_Nonsense_Mutation_p.R535*|CTNNB1_ENST00000396185.3_Nonsense_Mutation_p.R535*|CTNNB1_ENST00000453024.1_Nonsense_Mutation_p.R528*|CTNNB1_ENST00000405570.1_Nonsense_Mutation_p.R535*	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	535					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGCCATTCCACGACTAGTTCA	0.488000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				12	81					0	0	0.000978	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718785	142718785	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chrX:142718785G>A	ENST00000381779.4	-	2	365	c.140C>T	c.(139-141)tCa>tTa	p.S47L	SLITRK4_ENST00000356928.1_Missense_Mutation_p.S47L|SLITRK4_ENST00000338017.4_Missense_Mutation_p.S47L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	47						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTAGACTGAAACCTTCTC	0.363000													10	27					0	0	0.008291	0	0
AGT	183	broad.mit.edu	37	1	230841942	230841942	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:230841942C>T	ENST00000366667.4	-	3	1075	c.861G>A	c.(859-861)aaG>aaA	p.K287K		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	287					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGCCCTTCATCTTCCCTGAAA	0.607000													6	39					0	0	0.001168	0	0
EPHA1	2041	broad.mit.edu	37	7	143088618	143088618	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr7:143088618G>A	ENST00000275815.3	-	18	2949	c.2863C>T	c.(2863-2865)Cag>Tag	p.Q955*		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	955	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATTCCCATCTGCGTCAGGTCC	0.622000													6	33					0	0	0.001984	0	0
USO1	8615	broad.mit.edu	37	4	76721831	76721831	+	Silent	SNP	A	A	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr4:76721831A>C	ENST00000538159.1	+	17	1770	c.1770A>C	c.(1768-1770)ctA>ctC	p.L590L	USO1_ENST00000514213.2_Silent_p.L566L			O60763	USO1_HUMAN	USO1 vesicle transport factor	581	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TAGAGAAACTAGGATTTATTA	0.353000													9	77					0	0	0.006214	0	0
SDK1	221935	broad.mit.edu	37	7	4014086	4014086	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr7:4014086A>T	ENST00000404826.2	+	13	2042	c.1903A>T	c.(1903-1905)Agc>Tgc	p.S635C	SDK1_ENST00000389531.3_Missense_Mutation_p.S635C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	635	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTTCTCATCAGCCAGACGTG	0.562000													11	49					0	0	0.000978	0	0
PMF1	11243	broad.mit.edu	37	1	156206091	156206091	+	Silent	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:156206091G>T	ENST00000368277.3	+	4	390	c.381G>T	c.(379-381)ggG>ggT	p.G127G	PMF1-BGLAP_ENST00000320139.5_Intron|PMF1-BGLAP_ENST00000368276.4_Intron|PMF1_ENST00000368279.3_Intron|PMF1_ENST00000368273.4_Silent_p.G129G|PMF1_ENST00000567140.1_Intron|PMF1_ENST00000565805.1_Intron|PMF1-BGLAP_ENST00000490491.1_Silent_p.G127G	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					GCCCCAGCGGGATCCCAGAGA	0.617000													9	110					1.76689e-08	2.28893e-08	0.006214	1	0
VASH2	79805	broad.mit.edu	37	1	213146032	213146032	+	Missense_Mutation	SNP	G	G	A	rs150945050		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:213146032G>A	ENST00000366968.4	+	7	763	c.413G>A	c.(412-414)cGc>cAc	p.R138H	VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366967.2_Missense_Mutation_p.R99H|VASH2_ENST00000366965.2_Missense_Mutation_p.R159H|VASH2_ENST00000517399.1_Missense_Mutation_p.R203H|VASH2_ENST00000366966.2_Missense_Mutation_p.R138H|VASH2_ENST00000366964.3_Missense_Mutation_p.R61H	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	203					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		TGCAATGGCCGCTATGGCTCA	0.502000													10	82					0	0	0.006214	0	0
PTX4	390667	broad.mit.edu	37	16	1537772	1537772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr16:1537772C>T	ENST00000447419.2	-	2	366	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	PTX4_ENST00000440447.2_Missense_Mutation_p.R114Q|PTX4_ENST00000293922.1_Missense_Mutation_p.R109Q			Q96A99	PTX4_HUMAN	pentraxin 4, long	114						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TTTCCGGCCTCGGCGCTGCAG	0.687000													13	77					0	0	0.003163	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42115756	42115756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr15:42115756G>A	ENST00000457542.2	+	29	3996	c.3710G>A	c.(3709-3711)cGg>cAg	p.R1237Q	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1120Q|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1243Q|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1076Q	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1243										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CGTCCGTCTCGGCCTCACTCC	0.622000													8	56					0	0	0.004482	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205053	26205053	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr6:26205053G>C	ENST00000360441.4	+	1	196	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	61					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGTTCTGAAGGTGTTTCTGGA	0.567000													9	87					0	0	0.004482	0	0
TENM2	57451	broad.mit.edu	37	5	167643922	167643922	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:167643922G>A	ENST00000519204.1	+	21	3983	c.3865G>A	c.(3865-3867)Gcc>Acc	p.A1289T	TENM2_ENST00000403607.2_Missense_Mutation_p.A1234T|TENM2_ENST00000520394.1_Missense_Mutation_p.A1171T|TENM2_ENST00000545108.1_Missense_Mutation_p.A1409T|TENM2_ENST00000518659.1_Missense_Mutation_p.A1410T					teneurin transmembrane protein 2																		CATGGATGTAGCCCAGGTGAG	0.527000													10	103					0	0	0.008291	0	0
CTCF	10664	broad.mit.edu	37	16	67670670	67670670	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr16:67670670C>T	ENST00000264010.4	+	11	2359	c.1915C>T	c.(1915-1917)Cag>Tag	p.Q639*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.Q311*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	639					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCCAGAGCCTCAGCCTGTGAC	0.547000													24	182					0	0	0.004656	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524589	10524589	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr16:10524589C>T	ENST00000396560.2	+	3	339	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Silent_p.L38L|ATF7IP2_ENST00000324570.5_Silent_p.L38L|ATF7IP2_ENST00000396559.1_Silent_p.L38L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGTTGAAGCGCTGAAAACAGC	0.408000													5	35					0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152279952	152279952	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:152279952A>T	ENST00000368799.1	-	3	7445	c.7410T>A	c.(7408-7410)agT>agA	p.S2470R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2470	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTTCCTCCACTGCTTGACC	0.567000									Ichthyosis				36	581					0	0	0.003610	0	0
TOM1L2	146691	broad.mit.edu	37	17	17751077	17751077	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr17:17751077C>T	ENST00000581396.1	-	14	1342	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	TOM1L2_ENST00000542206.1_Missense_Mutation_p.E347K|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E348K|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E442K|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E421K|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E421K|TOM1L2_ENST00000379504.3_Missense_Mutation_p.E466K|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E199K	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	466					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TTGGCTCTTTCTTCAAGGAAT	0.592000													5	74					0	0	0.001984	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509997	41509997	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr19:41509997T>C	ENST00000324071.4	+	2	270	c.263T>C	c.(262-264)cTt>cCt	p.L88P	CYP2B6_ENST00000330446.5_Missense_Mutation_p.L48P|CYP2B6_ENST00000598834.1_3'UTR|CYP2B6_ENST00000593831.1_Missense_Mutation_p.L12P	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	88					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGGGAGGCCCTTGTGGACAAG	0.602000													3	118					0	0	0.000248	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72489916	72489916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr10:72489916G>A	ENST00000373208.1	+	6	1013	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	ADAMTS14_ENST00000373207.1_Nonsense_Mutation_p.W338*	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	338	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GTGTGTCGCTGGGCACACTCC	0.662000													10	74					0	0	0.008291	0	0
PZP	5858	broad.mit.edu	37	12	9304243	9304243	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:9304243C>T	ENST00000261336.2	-	33	4266	c.4238G>A	c.(4237-4239)cGg>cAg	p.R1413Q	PZP_ENST00000381997.2_Missense_Mutation_p.R1199Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CACTTCTGTCCGGCTCACAGA	0.443000													5	33					0	0	0.001984	0	0
POLQ	10721	broad.mit.edu	37	3	121208599	121208599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr3:121208599G>A	ENST00000264233.5	-	16	3307	c.3179C>T	c.(3178-3180)tCt>tTt	p.S1060F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1060					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACACGCTCCAGAGTCTTTCAG	0.408000								DNA polymerases (catalytic subunits)					10	128					0	0	0.006214	0	0
HTR2B	3357	broad.mit.edu	37	2	231973514	231973514	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:231973514C>A	ENST00000258400.3	-	4	1675	c.1163G>T	c.(1162-1164)cGg>cTg	p.R388L	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	388			R -> W (in dbSNP:rs77982984).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	AAATGCATCCCGAAATGTCTT	0.438000													23	101					1.10923e-09	1.45348e-09	0.002780	1	0
MARK1	4139	broad.mit.edu	37	1	220824023	220824023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:220824023C>T	ENST00000402574.1	+	14	2129	c.1127C>T	c.(1126-1128)aCa>aTa	p.T376I	MARK1_ENST00000366917.4_Missense_Mutation_p.T511I|MARK1_ENST00000366918.4_Missense_Mutation_p.T489I	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	511					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAAAGGACCACAGATCGATAC	0.378000													14	101					0	0	0.007413	0	0
RASAL1	8437	broad.mit.edu	37	12	113553852	113553852	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:113553852T>C	ENST00000546530.1	-	10	1021	c.736A>G	c.(736-738)Aac>Gac	p.N246D	RASAL1_ENST00000548055.1_Missense_Mutation_p.N246D|RASAL1_ENST00000261729.5_Missense_Mutation_p.N246D|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.N246D	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	246					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GCACCCAGGTTCCCCCTGTCC	0.572000													4	51					0	0	0.000248	0	0
SUSD2	56241	broad.mit.edu	37	22	24583660	24583660	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr22:24583660C>G	ENST00000358321.3	+	12	2274	c.2013C>G	c.(2011-2013)ctC>ctG	p.L671L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	671					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						AGACCACCCTCAACCCCAGCC	0.592000													9	78					0	0	0.004482	0	0
VPS13D	55187	broad.mit.edu	37	1	12416557	12416557	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:12416557A>G	ENST00000358136.3	+	49	10104	c.9974A>G	c.(9973-9975)tAt>tGt	p.Y3325C	VPS13D_ENST00000356315.4_Missense_Mutation_p.Y3300C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3324					protein localization					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)		TTATTCTGCTATGCTGACAAA	0.468000													22	77					0	0	0.003330	0	0
AHCTF1	25909	broad.mit.edu	37	1	247014644	247014644	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:247014644T>A	ENST00000366508.1	-	33	4905	c.4769A>T	c.(4768-4770)tAc>tTc	p.Y1590F	AHCTF1_ENST00000391829.2_Missense_Mutation_p.Y1555F|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.Y1564F			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1555	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCAAAATTGTACTGAAGCTT	0.378000													10	74					0	0	0.006214	0	0
PCDH17	27253	broad.mit.edu	37	13	58208829	58208829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr13:58208829A>G	ENST00000377918.3	+	1	2175	c.2149A>G	c.(2149-2151)Atc>Gtc	p.I717V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	717					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CACTATCTCCATCATCCTCCT	0.607000													7	71					0	0	0.001984	0	0
NUP153	9972	broad.mit.edu	37	6	17669742	17669742	+	Silent	SNP	G	G	C	rs149307511	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr6:17669742G>C	ENST00000262077.2	-	6	887	c.888C>G	c.(886-888)ctC>ctG	p.L296L	NUP153_ENST00000537253.1_Silent_p.L296L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	296					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ATTGTGCACTGAGTTGCTTAG	0.383000													5	36					0	0	0.001168	0	0
LCNL1	401562	broad.mit.edu	37	9	139878139	139878139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr9:139878139C>T	ENST00000408973.2	+	1	695	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	34							binding										GGTGACCTGGCCCTCAAGTTT	0.572000													10	108					0	0	0.000978	0	0
TUBG2	27175	broad.mit.edu	37	17	40818790	40818790	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr17:40818790A>T	ENST00000251412.7	+	11	1527	c.1328A>T	c.(1327-1329)tAc>tTc	p.Y443F		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	443					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CAGCCAGACTACATTTCCTGG	0.542000													5	62					0	0	0.000602	0	0
ADAM7	8756	broad.mit.edu	37	8	24333985	24333985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr8:24333985C>T	ENST00000175238.6	+	8	756	c.673C>T	c.(673-675)Cga>Tga	p.R225*	ADAM7_ENST00000520720.1_5'UTR|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.R225*|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	225	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTAAGGAACCGAATTTGGGG	0.328000													5	43					0	0	0.001168	0	0
PSG7	5676	broad.mit.edu	37	19	43428922	43428922	+	RNA	SNP	T	T	A	rs34574649		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr19:43428922T>A	ENST00000406070.2	-	0	1394					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tctttgaggttccatgggaga	0.413000													12	102					0	0	0.001855	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868742	89868742	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:89868742C>T	ENST00000534061.1	+	2	328	c.98C>T	c.(97-99)cCt>cTt	p.P33L	NAALAD2_ENST00000321955.4_Missense_Mutation_p.P33L|NAALAD2_ENST00000375944.3_Missense_Mutation_p.P33L|NAALAD2_ENST00000525171.1_Missense_Mutation_p.P33L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	33					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTATTAAGCCTCTCAAAGAA	0.378000													4	37					0	0	0.000248	0	0
PIK3CG	5294	broad.mit.edu	37	7	106509928	106509928	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr7:106509928G>C	ENST00000359195.3	+	2	2232	c.1922G>C	c.(1921-1923)aGa>aCa	p.R641T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R641T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R641T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	641					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAAAATGTAAGAGCCATTGCA	0.453000													5	67					0	0	0.000602	0	0
PROM2	150696	broad.mit.edu	37	2	95942354	95942354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:95942354G>A	ENST00000317620.9	+	5	764	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	PROM2_ENST00000317668.4_Missense_Mutation_p.V211M|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000403131.2_Missense_Mutation_p.V211M|PROM2_ENST00000542147.1_Missense_Mutation_p.V211M	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	211						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTGCAGGCCGTGGCACAGCA	0.647000													7	57					0	0	0.003080	0	0
CNOT4	4850	broad.mit.edu	37	7	135047645	135047645	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr7:135047645G>A	ENST00000541284.1	-	12	2464	c.2134C>T	c.(2134-2136)Cgc>Tgc	p.R712C	CNOT4_ENST00000423368.2_Missense_Mutation_p.R641C|CNOT4_ENST00000451834.1_Missense_Mutation_p.R709C|CNOT4_ENST00000361528.4_Missense_Mutation_p.R638C	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCCTAATGGCGGTCCAGTGTT	0.527000													45	399					0	0	0.003610	0	0
SPTAN1	6709	broad.mit.edu	37	9	131348167	131348167	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr9:131348167G>A	ENST00000372739.3	+	19	2811	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K	SPTAN1_ENST00000358161.5_Missense_Mutation_p.E901K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.E901K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	901					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGATGCTAACGAGGCTGAATC	0.572000													10	79					0	0	0.008291	0	0
MRPS35	60488	broad.mit.edu	37	12	27869315	27869315	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:27869315C>T	ENST00000081029.3	+	3	316	c.245C>T	c.(244-246)cCt>cTt	p.P82L	MRPS35_ENST00000538315.1_Missense_Mutation_p.P82L	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	82					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TCTGCAGTACCTCTTCCTGTT	0.448000													5	42					0	0	0.000602	0	0
DCDC1	341019	broad.mit.edu	37	11	30914379	30914379	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:30914379T>A	ENST00000597505.1	-	34	5058	c.5059A>T	c.(5059-5061)Aaa>Taa	p.K1687*	DCDC1_ENST00000406071.2_Nonsense_Mutation_p.K425*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	193					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAAATAGTTTTGCCCCAGGCA	0.428000													22	85					0	0	0.001882	0	0
TMCC2	9911	broad.mit.edu	37	1	205238928	205238928	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:205238928T>C	ENST00000358024.3	+	3	1987	c.1598T>C	c.(1597-1599)cTg>cCg	p.L533P	TMCC2_ENST00000329800.7_Missense_Mutation_p.L293P|TMCC2_ENST00000330675.7_Missense_Mutation_p.L308P|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.L455P	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	533						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGTCTCACCTGGAGGACTCC	0.587000													3	144					0	0	0.000248	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482788	76482788	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr16:76482788C>T	ENST00000307431.8	+	7	1249	c.864C>T	c.(862-864)gaC>gaT	p.D288D	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.D292D|CNTNAP4_ENST00000377504.4_Silent_p.D288D|CNTNAP4_ENST00000478060.1_Silent_p.D264D	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	289	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCACAGTGGACGAACACAGGC	0.448000													4	26					0	0	0.000248	0	0
PABPC3	5042	broad.mit.edu	37	13	25671496	25671496	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr13:25671496C>T	ENST00000281589.3	+	1	1197	c.1160C>T	c.(1159-1161)gCa>gTa	p.A387V		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	387					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGAGAATGGCAAGTGTACGA	0.502000													11	122					0	0	0.008291	0	0
ERLEC1	27248	broad.mit.edu	37	2	54041718	54041718	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:54041718A>T	ENST00000185150.4	+	12	1396	c.1265A>T	c.(1264-1266)gAt>gTt	p.D422V	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000405123.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.D368V	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	422					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GATATTTGTGATATAACTGAC	0.318000													3	29					0	0	0.000602	0	0
OSBPL10	114884	broad.mit.edu	37	3	31712335	31712335	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr3:31712335T>C	ENST00000396556.2	-	9	1989	c.1867A>G	c.(1867-1869)Aca>Gca	p.T623A	OSBPL10_ENST00000438237.2_Missense_Mutation_p.T559A	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	623					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AATATCACTGTCGCTGAGTAC	0.547000													12	130					0	0	0.002450	0	0
USP19	10869	broad.mit.edu	37	3	49152891	49152891	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr3:49152891C>T	ENST00000453664.1	-	12	2156	c.1838G>A	c.(1837-1839)cGg>cAg	p.R613Q	USP19_ENST00000398898.2_Missense_Mutation_p.R562Q|USP19_ENST00000417901.1_Missense_Mutation_p.R625Q|USP19_ENST00000398892.3_Missense_Mutation_p.R562Q|USP19_ENST00000398888.2_Missense_Mutation_p.R522Q|USP19_ENST00000398896.1_Missense_Mutation_p.R330Q|USP19_ENST00000434032.2_Missense_Mutation_p.R623Q	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	522					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.R610L(1)|p.R623L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAAGAAGTCCCGGAGTTCCCG	0.542000													13	73					0	0	0.001855	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017977	101017977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:101017977G>A	ENST00000537247.1	+	10	2036	c.1082G>A	c.(1081-1083)tGt>tAt	p.C361Y	GAS2L3_ENST00000547754.1_Missense_Mutation_p.C465Y|GAS2L3_ENST00000539410.1_Missense_Mutation_p.C465Y|GAS2L3_ENST00000266754.5_Missense_Mutation_p.C465Y			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	465					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAAATAAGTGTTCAGGAAAA	0.403000													8	94					0	0	0.003080	0	0
SLC22A10	387775	broad.mit.edu	37	11	63066443	63066443	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:63066443G>T	ENST00000544661.1	+	6	845	c.417G>T	c.(415-417)gaG>gaT	p.E139D	SLC22A10_ENST00000332793.6_Missense_Mutation_p.E294D|SLC22A10_ENST00000535888.1_Missense_Mutation_p.E84D|SLC22A10_ENST00000526800.1_Missense_Mutation_p.E134D|SLC22A10_ENST00000525620.1_3'UTR			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	294						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AACTAGATGAGGGCTTAAAGG	0.413000													8	61					1.12685e-05	1.42734e-05	0.004482	1	0
YLPM1	56252	broad.mit.edu	37	14	75277087	75277087	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr14:75277087A>G	ENST00000325680.7	+	9	5316	c.5192A>G	c.(5191-5193)gAt>gGt	p.D1731G	YLPM1_ENST00000552421.1_Missense_Mutation_p.D1025G|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1536G	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TATGACCGGGATCGATTTGAC	0.403000													3	115					0	0	0.004672	0	0
ASB4	51666	broad.mit.edu	37	7	95157420	95157420	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr7:95157420G>C	ENST00000325885.5	+	3	854	c.783G>C	c.(781-783)tgG>tgC	p.W261C	ASB4_ENST00000428113.1_Missense_Mutation_p.W261C	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	261					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AGGCAGCCTGGAACTGTGACC	0.562000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	66					0	0	0.003080	0	0
RPRD1A	55197	broad.mit.edu	37	18	33607246	33607246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr18:33607246C>T	ENST00000399022.4	-	5	685	c.514G>A	c.(514-516)Gat>Aat	p.D172N	RPRD1A_ENST00000588737.1_Missense_Mutation_p.D136N|RPRD1A_ENST00000337059.5_Missense_Mutation_p.D136N|RPRD1A_ENST00000357384.4_Missense_Mutation_p.D172N|RPRD1A_ENST00000590898.1_Missense_Mutation_p.D136N|RPRD1A_ENST00000319040.6_Missense_Mutation_p.D172N	NM_018170.3	NP_060640.2	Q96P16	RPR1A_HUMAN	regulation of nuclear pre-mRNA domain containing 1A	172										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						TTTTCCAGATCTTGTAATGCT	0.353000													10	121					0	0	0.000978	0	0
GFI1	2672	broad.mit.edu	37	1	92948573	92948573	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:92948573G>A	ENST00000370332.1	-	3	464	c.146C>T	c.(145-147)gCg>gTg	p.A49V	GFI1_ENST00000427103.1_Missense_Mutation_p.A49V|GFI1_ENST00000483490.1_5'UTR|GFI1_ENST00000294702.5_Missense_Mutation_p.A49V	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	49					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCGGGGCTCCGCCTTCGCCCC	0.662000													12	54					0	0	0.001368	0	0
LBX1	10660	broad.mit.edu	37	10	102988336	102988336	+	Silent	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr10:102988336G>C	ENST00000370193.2	-	1	1215	c.237C>G	c.(235-237)ctC>ctG	p.L79L		NM_006562.4	NP_006553.2	P52954	LBX1_HUMAN	ladybird homeobox 1	79					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		AGGTCTGCGAGAGCAGCGCGC	0.711000													2	6					0	0	0.004672	0	0
KIAA1984	84960	broad.mit.edu	37	9	139694847	139694847	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr9:139694847C>T	ENST00000338005.6	+	5	480	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	149										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCAGATCATCCGCCAGCTGGA	0.592000													3	17					0	0	0.004672	0	0
CDH24	64403	broad.mit.edu	37	14	23524268	23524268	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr14:23524268C>T	ENST00000397359.3	-	3	755	c.496_splice	c.e3+1	p.G166_splice	CDH24_ENST00000487137.2_Splice_Site_p.G166_splice|CDH24_ENST00000554034.1_Splice_Site_p.G166_splice|CDH24_ENST00000267383.5_Splice_Site_p.G166_splice	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	166	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTGCTCACCGACATTGGAC	0.552000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	107					0	0	0.001882	0	0
PANX3	116337	broad.mit.edu	37	11	124487352	124487352	+	Silent	SNP	C	C	T	rs147550190		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:124487352C>T	ENST00000284288.2	+	3	574	c.507C>T	c.(505-507)tcC>tcT	p.S169S		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	169					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.S169S(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		AGAAGAGTTCCGACCCCTATG	0.458000													19	105					0	0	0.001523	0	0
DNAH7	56171	broad.mit.edu	37	2	196605563	196605563	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:196605563C>G	ENST00000312428.6	-	64	11895	c.11795G>C	c.(11794-11796)gGa>gCa	p.G3932A	DNAH7_ENST00000484183.1_5'UTR|DNAH7_ENST00000409063.1_Missense_Mutation_p.G415A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3932					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCAGGAAGCTCCATCCAGAAA	0.303000													12	82					0	0	0.001368	0	0
NEFL	4747	broad.mit.edu	37	8	24811239	24811239	+	RNA	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr8:24811239G>T	ENST00000221169.5	-	0	1834							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGGAGCTCTGGGAGTAGCCA	0.562000													12	80					1.61879e-10	2.14584e-10	0.001368	1	0
TCP11L2	255394	broad.mit.edu	37	12	106708250	106708250	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:106708250A>G	ENST00000546625.1	+	3	431	c.272A>G	c.(271-273)cAa>cGa	p.Q91R	TCP11L2_ENST00000547153.1_Missense_Mutation_p.Q91R|TCP11L2_ENST00000299045.3_Missense_Mutation_p.Q91R			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	91										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						CAATTGAAACAAGAGGCTCTC	0.413000													8	44					0	0	0.006214	0	0
TM4SF5	9032	broad.mit.edu	37	17	4684093	4684093	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr17:4684093C>G	ENST00000270560.3	+	2	218	c.187C>G	c.(187-189)Ccg>Gcg	p.P63A		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	63						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						GGTACTGTGTCCGGGGATTGC	0.577000													7	22					0	0	0.001984	0	0
RTP3	83597	broad.mit.edu	37	3	46539589	46539589	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr3:46539589C>A	ENST00000296142.3	+	1	609	c.37C>A	c.(37-39)Cag>Aag	p.Q13K		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	13					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GCAAATGTTTCAGGAGTTAAT	0.587000													9	73					5.4927e-09	7.15621e-09	0.004482	1	0
MROH8	140699	broad.mit.edu	37	20	35748234	35748234	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr20:35748234C>T	ENST00000400441.3	-	18	2236	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	MROH8_ENST00000217333.8_Missense_Mutation_p.R575Q|MROH8_ENST00000441008.2_Missense_Mutation_p.R732Q					maestro heat-like repeat family member 8																		CACTGGACTCCGGAGAAGCTG	0.463000													11	100					0	0	0.002450	0	0
PLEC	5339	broad.mit.edu	37	8	145003892	145003892	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr8:145003892C>T	ENST00000322810.4	-	23	3425	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K	PLEC_ENST00000354589.3_Missense_Mutation_p.E949K|PLEC_ENST00000354958.2_Missense_Mutation_p.E927K|PLEC_ENST00000356346.3_Missense_Mutation_p.E935K|PLEC_ENST00000527096.1_Missense_Mutation_p.E972K|PLEC_ENST00000345136.3_Missense_Mutation_p.E949K|PLEC_ENST00000357649.2_Missense_Mutation_p.E953K|PLEC_ENST00000398774.2_Missense_Mutation_p.E917K|PLEC_ENST00000436759.2_Missense_Mutation_p.E976K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1086	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCCGGTCCTCGGGTCCGAAG	0.692000													10	21					0	0	0.001368	0	0
IRF6	3664	broad.mit.edu	37	1	209969692	209969692	+	Splice_Site	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:209969692C>G	ENST00000367021.3	-	4	552		c.e4+1		IRF6_ENST00000542854.1_Splice_Site	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGGGGCCTCACCTGGGTTAAT	0.512000										HNSCC(57;0.16)			6	53					0	0	0.001984	0	0
TRPA1	8989	broad.mit.edu	37	8	72951161	72951161	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr8:72951161G>T	ENST00000262209.4	-	19	2441	c.2234C>A	c.(2233-2235)gCt>gAt	p.A745D	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	745						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGAGTTGAAAGCCATTCCTGG	0.328000													10	73					2.74318e-10	3.61529e-10	0.006214	1	0
IL3	3562	broad.mit.edu	37	5	131396411	131396411	+	Silent	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:131396411G>T	ENST00000296870.2	+	1	190	c.12G>T	c.(10-12)ctG>ctT	p.L4L		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	4					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TGAGCCGCCTGCCCGTCCTGC	0.587000													4	56					0.00024832	0.000311082	0.000248	1	0
PRKDC	5591	broad.mit.edu	37	8	48733339	48733339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr8:48733339G>A	ENST00000314191.2	-	67	9330	c.9274C>T	c.(9274-9276)Caa>Taa	p.Q3092*	PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q3092*|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3093	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACATCATCTTGCAGGAGGTAA	0.378000								Non-homologous end-joining					7	21					0	0	0.001984	0	0
HTRA3	94031	broad.mit.edu	37	4	8305956	8305956	+	Silent	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr4:8305956C>G	ENST00000307358.2	+	8	1350	c.1146C>G	c.(1144-1146)gtC>gtG	p.V382V		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	382	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TCCCAGAGGTCAGCAGTGGAA	0.597000													9	68					0	0	0.008291	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726614	25726614	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr6:25726614C>T	ENST00000297012.3	-	1	176	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	48					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TACACTGGTGCGCCTGCCCCT	0.517000													4	65					0	0	0.000248	0	0
PPAPDC3	84814	broad.mit.edu	37	9	134165490	134165490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr9:134165490C>T	ENST00000372264.3	+	1	410	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C	PPAPDC3_ENST00000372261.1_Missense_Mutation_p.R36C	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	36						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CCCGGAGCCCCGCAGCTCGGG	0.706000													9	23					0	0	0.004482	0	0
CDR1	1038	broad.mit.edu	37	X	139866350	139866350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chrX:139866350G>A	ENST00000370532.2	-	1	373	c.182C>T	c.(181-183)aCg>aTg	p.T61M		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	61	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CAGGAAATCCGTGTCTTCCAG	0.438000													32	89					0	0	0.002445	0	0
EP300	2033	broad.mit.edu	37	22	41547861	41547861	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr22:41547861G>A	ENST00000263253.7	+	15	4061	c.2842G>A	c.(2842-2844)Gaa>Aaa	p.E948K		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	948					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTAAGCATTGAAGGACAGGT	0.478000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				20	121					0	0	0.008871	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17566856	17566856	+	RNA	SNP	C	C	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr21:17566856C>A	ENST00000458468.1	+	0	409					NR_027790.1																						GGTGGCAGCTCTGGGCTTTTG	0.483000													4	73					0.00024832	0.000311082	0.000248	1	0
POTEA	340441	broad.mit.edu	37	8	43152233	43152233	+	RNA	SNP	C	C	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr8:43152233C>G	ENST00000522175.2	+	0	372							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGACAATGTCAACTTCATGT	0.388000													5	111					0	0	0.000602	0	0
DPP6	1804	broad.mit.edu	37	7	154561208	154561208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr7:154561208G>A	ENST00000404039.1	+	9	1360	c.773G>A	c.(772-774)cGt>cAt	p.R258H	DPP6_ENST00000332007.3_Missense_Mutation_p.R260H|DPP6_ENST00000377770.3_Missense_Mutation_p.R322H|DPP6_ENST00000427557.1_Missense_Mutation_p.R215H	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	322					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AATGATTCCCGTGTCCCCATC	0.552000													7	52					0	0	0.004482	0	0
DST	667	broad.mit.edu	37	6	56765371	56765371	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr6:56765371C>T	ENST00000370754.5	-	3	264	c.265G>A	c.(265-267)Gca>Aca	p.A89T				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			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)			CGGGCAGCTGCGGCCGCTGCA	0.507000													11	71					0	0	0.000978	0	0
KPNA5	3841	broad.mit.edu	37	6	117050816	117050816	+	Silent	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr6:117050816T>C	ENST00000368564.1	+	13	1492	c.1344T>C	c.(1342-1344)ctT>ctC	p.L448L	KPNA5_ENST00000356348.1_Silent_p.L448L			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	445					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TAAATGGACTTGAAAATATTT	0.363000													16	120					0	0	0.003163	0	0
MEFV	4210	broad.mit.edu	37	16	3296524	3296524	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr16:3296524C>T	ENST00000219596.1	-	6	1650		c.e6+1		MEFV_ENST00000541159.1_Splice_Site|MEFV_ENST00000536379.1_Splice_Site|MEFV_ENST00000339854.4_Splice_Site	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever						inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCTCGCTGTACCTGTGCAAGA	0.567000													4	40					0	0	0.000248	0	0
FCHO2	115548	broad.mit.edu	37	5	72285313	72285313	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:72285313A>G	ENST00000430046.2	+	3	301	c.185A>G	c.(184-186)aAt>aGt	p.N62S	FCHO2_ENST00000341845.6_Missense_Mutation_p.N62S|FCHO2_ENST00000512348.1_Missense_Mutation_p.N62S|FCHO2_ENST00000287761.6_Missense_Mutation_p.N62S	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	62	FCH.									cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCTGCAAGCAATTATTCACAA	0.348000													3	11					0	0	0.000248	0	0
MED26	9441	broad.mit.edu	37	19	16688252	16688252	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr19:16688252C>T	ENST00000263390.3	-	3	651	c.389G>A	c.(388-390)cGc>cAc	p.R130H	CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.R138H	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	130					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						GAGGTCATTGCGGCTCTTCAG	0.746000													3	18					0	0	0.004672	0	0
HDDC2	51020	broad.mit.edu	37	6	125619867	125619867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr6:125619867C>T	ENST00000398153.1	-	3	505	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	HDDC2_ENST00000368377.4_Intron	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	101	HD.						metal ion binding|phosphoric diester hydrolase activity	p.R101P(2)		endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GACCTCTTCTCGCCTATGTTT	0.443000													4	43					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9066795	9066795	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr19:9066795G>A	ENST00000397910.4	-	3	20854	c.20651C>T	c.(20650-20652)aCa>aTa	p.T6884I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6886	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGTGCTTGTGGAAGGATG	0.478000													28	217					0	0	0.007291	0	0
SLC26A9	115019	broad.mit.edu	37	1	205899105	205899105	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:205899105G>T	ENST00000367135.3	-	6	745	c.632C>A	c.(631-633)gCc>gAc	p.A211D	SLC26A9_ENST00000340781.4_Missense_Mutation_p.A211D|SLC26A9_ENST00000367134.2_Missense_Mutation_p.A211D	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	211						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTGCAGGCCGGCGGCCGTCAT	0.577000													9	47					1.12685e-05	1.42734e-05	0.004482	1	0
LRP1B	53353	broad.mit.edu	37	2	141130669	141130669	+	Missense_Mutation	SNP	C	C	T	rs145915063		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:141130669C>T	ENST00000389484.3	-	69	11647	c.10676G>A	c.(10675-10677)cGg>cAg	p.R3559Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3559	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGGAACACCGGAACTGATC	0.368000										TSP Lung(27;0.18)			22	84					0	0	0.001523	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642482	122642482	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr3:122642482G>A	ENST00000195173.4	-	10	1557	c.1254C>T	c.(1252-1254)aaC>aaT	p.N418N	SEMA5B_ENST00000357599.3_Silent_p.N418N|SEMA5B_ENST00000451055.2_Silent_p.N472N			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	418	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TGGGGATGGGGTTGGCTATGG	0.557000													13	96					0	0	0.001368	0	0
CDH10	1008	broad.mit.edu	37	5	24537731	24537731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:24537731C>T	ENST00000264463.4	-	3	791	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	95	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTCCATCTCCAGATAAGAT	0.368000										HNSCC(23;0.051)			6	57					0	0	0.001168	0	0
PHC2	1912	broad.mit.edu	37	1	33795788	33795788	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:33795788C>T	ENST00000257118.5	-	12	2082	c.2029G>A	c.(2029-2031)Gtg>Atg	p.V677M	PHC2_ENST00000373416.1_Missense_Mutation_p.V142M|PHC2_ENST00000373422.3_Missense_Mutation_p.V283M|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.V648M|PHC2_ENST00000373418.3_Missense_Mutation_p.V142M|PHC2_ENST00000419414.2_Missense_Mutation_p.V678M	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	677					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAAAGTCCCACCCGTTTGGTG	0.582000													7	61					0	0	0.004482	0	0
OR56B1	387748	broad.mit.edu	37	11	5758256	5758256	+	Silent	SNP	G	G	T	rs149260229	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:5758256G>T	ENST00000317121.3	+	1	576	c.510G>T	c.(508-510)gtG>gtT	p.V170V	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CAGTGCCTGTGCTTGCAGCAC	0.473000													17	88					1.15088e-07	1.47416e-07	0.004007	1	0
KLHL13	90293	broad.mit.edu	37	X	117043397	117043397	+	Silent	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chrX:117043397G>C	ENST00000371876.1	-	4	3501	c.1080C>G	c.(1078-1080)gtC>gtG	p.V360V	KLHL13_ENST00000541812.1_Silent_p.V395V|KLHL13_ENST00000469946.1_Silent_p.V360V|KLHL13_ENST00000262820.3_Silent_p.V411V|KLHL13_ENST00000539496.1_Silent_p.V414V|KLHL13_ENST00000371878.1_Silent_p.V360V|KLHL13_ENST00000371882.1_Silent_p.V360V|KLHL13_ENST00000540167.1_Silent_p.V395V|KLHL13_ENST00000545703.1_Silent_p.V369V			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	411					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAAATCTGAAGACTGTATCAA	0.413000													10	44					0	0	0.006214	0	0
GAS2L3	283431	broad.mit.edu	37	12	100995424	100995424	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:100995424G>A	ENST00000539410.1	+	4	582	c.196G>A	c.(196-198)Gtt>Att	p.V66I	GAS2L3_ENST00000537247.1_5'UTR|GAS2L3_ENST00000547754.1_Missense_Mutation_p.V66I|GAS2L3_ENST00000266754.5_Missense_Mutation_p.V66I			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	66	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGTATTAAAGTTAAGGCAGA	0.269000													11	82					0	0	0.008291	0	0
COL4A1	1282	broad.mit.edu	37	13	110827095	110827095	+	Splice_Site	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr13:110827095C>T	ENST00000375820.4	-	38	3321	c.3198_splice	c.e38-1	p.G1067_splice		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1067	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTTGATCTCCCTGCAAGTA	0.463000													32	257					0	0	0.002836	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127072	20127072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr22:20127072C>T	ENST00000334554.7	+	3	439	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000405930.3_Nonsense_Mutation_p.Q100*|ZDHHC8_ENST00000320602.7_Nonsense_Mutation_p.Q100*	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	100						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GCGAGGTATCCAGGTCCGCAT	0.617000													4	79					0	0	0.000602	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250227	140250227	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:140250227C>T	ENST00000398640.2	+	1	1539	c.1539C>T	c.(1537-1539)agC>agT	p.S513S	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGAGAGCGGCAAGGTGT	0.697000													26	180					0	0	0.005443	0	0
HELZ2	85441	broad.mit.edu	37	20	62197118	62197118	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr20:62197118C>T	ENST00000467148.1	-	8	3126	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T	HELZ2_ENST00000427522.2_Silent_p.T450T	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CCGCAGCCTCCGTCTGCGCTG	0.687000													9	41					0	0	0.004482	0	0
GRM5	2915	broad.mit.edu	37	11	88583210	88583210	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:88583210T>C	ENST00000418177.2	-	3	1142	c.775A>G	c.(775-777)Aag>Gag	p.K259E	GRM5_ENST00000305447.4_Missense_Mutation_p.K259E|GRM5_ENST00000393297.1_Missense_Mutation_p.K259E|GRM5_ENST00000455756.2_Missense_Mutation_p.K259E|GRM5_ENST00000305432.5_Missense_Mutation_p.K259E			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	259					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TTCAGCAGCTTATCAAAGCTC	0.532000													5	50					0	0	0.001168	0	0
ERRFI1	54206	broad.mit.edu	37	1	8074054	8074054	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:8074054C>T	ENST00000377482.5	-	4	828	c.605G>A	c.(604-606)cGt>cAt	p.R202H	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	202					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TCCACACCCACGGAAGCTTCG	0.443000													7	38					0	0	0.004482	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834947	27834947	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr6:27834947G>C	ENST00000331442.3	-	1	412	c.361C>G	c.(361-363)Ccc>Gcc	p.P121A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	121					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGGCTTTGGGCTTGGCTTCC	0.597000													27	181					0	0	0.005443	0	0
TCF12	6938	broad.mit.edu	37	15	57565366	57565366	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr15:57565366T>A	ENST00000267811.5	+	18	2116	c.1812T>A	c.(1810-1812)tgT>tgA	p.C604*	TCF12_ENST00000537840.1_Nonsense_Mutation_p.C368*|TCF12_ENST00000557843.1_Nonsense_Mutation_p.C604*|TCF12_ENST00000559703.1_Nonsense_Mutation_p.C261*|TCF12_ENST00000343827.3_Nonsense_Mutation_p.C434*|TCF12_ENST00000438423.2_Nonsense_Mutation_p.C628*|TCF12_ENST00000543579.1_Nonsense_Mutation_p.C458*|TCF12_ENST00000559710.1_Nonsense_Mutation_p.C238*|TCF12_ENST00000452095.2_Nonsense_Mutation_p.C624*|TCF12_ENST00000333725.5_Nonsense_Mutation_p.C628*	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	604	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCCGAATGTGTCAGCTTCACT	0.458000			T	TEC	extraskeletal myxoid chondrosarcoma								17	85					0	0	0.006122	0	0
ALDOC	230	broad.mit.edu	37	17	26901251	26901251	+	Silent	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr17:26901251A>G	ENST00000226253.4	-	7	1108	c.633T>C	c.(631-633)gcT>gcC	p.A211A	RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395321.2_Silent_p.A211A|ALDOC_ENST00000395319.3_Silent_p.A183A	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	211					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					TGTACACAGCAGCCAAGACCT	0.567000													18	186					0	0	0.006122	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204394760	204394760	+	Missense_Mutation	SNP	T	T	A	rs143735929		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:204394760T>A	ENST00000367187.3	-	33	5253	c.4697A>T	c.(4696-4698)aAt>aTt	p.N1566I	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N1538I	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1566	C2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTAGGTAGGATTGCAGGTTTT	0.498000													11	59					0	0	0.008291	0	0
UGT2B4	7363	broad.mit.edu	37	4	70352332	70352332	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr4:70352332A>G	ENST00000305107.6	-	4	1131	c.1085T>C	c.(1084-1086)cTt>cCt	p.L362P	UGT2B4_ENST00000381096.3_Missense_Mutation_p.L226P|UGT2B4_ENST00000512583.1_Missense_Mutation_p.L362P|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	362					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTTACCAAGAAGATCATTCTG	0.338000													10	78					0	0	0.006214	0	0
PLXNA3	55558	broad.mit.edu	37	X	153689702	153689702	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chrX:153689702C>T	ENST00000369682.3	+	3	1033	c.858C>T	c.(856-858)ggC>ggT	p.G286G		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	286	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGCGCGGCGTGGAGTACC	0.637000													22	52					0	0	0.001882	0	0
OLFML2B	25903	broad.mit.edu	37	1	161953756	161953756	+	Silent	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:161953756C>T	ENST00000294794.3	-	8	2385	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A	OLFML2B_ENST00000367938.1_Silent_p.A137A|OLFML2B_ENST00000367940.2_Silent_p.A655A	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	654	Olfactomedin-like.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGCTCAGGTCCGCGGCATTGA	0.582000													13	71					0	0	0.001368	0	0
GALNT8	26290	broad.mit.edu	37	12	4874614	4874614	+	Missense_Mutation	SNP	C	C	T	rs148196108		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:4874614C>T	ENST00000252318.2	+	10	2000	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	555	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TGCTAGTGATCGCTGCCTGAC	0.438000													4	47					0	0	0.000248	0	0
EDNRB	1910	broad.mit.edu	37	13	78492516	78492516	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr13:78492516A>T	ENST00000377211.4	-	2	615	c.463T>A	c.(463-465)Tcg>Acg	p.S155T	EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000334286.5_Missense_Mutation_p.S65T|EDNRB_ENST00000446573.1_Missense_Mutation_p.S65T	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	65					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GGTGCCAACGACCGCGCCAGA	0.622000													8	82					0	0	0.003080	0	0
LRP10	26020	broad.mit.edu	37	14	23346570	23346570	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr14:23346570G>A	ENST00000359591.4	+	7	2667	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	659	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CAGGCCCTGCGAGGCCGCCTG	0.667000													11	91					0	0	0.001368	0	0
ANKRD32	84250	broad.mit.edu	37	5	94030824	94030824	+	Missense_Mutation	SNP	G	G	A	rs61733076		TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:94030824G>A	ENST00000265140.5	+	21	3403	c.2984G>A	c.(2983-2985)aGt>aAt	p.S995N	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	995										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GCTTGTAAAAGTCATAAAGAA	0.338000													9	42					0	0	0.002450	0	0
PUS7L	83448	broad.mit.edu	37	12	44148515	44148515	+	Silent	SNP	G	G	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:44148515G>A	ENST00000416848.2	-	2	1022	c.534C>T	c.(532-534)gcC>gcT	p.A178A	PUS7L_ENST00000551923.1_Silent_p.A178A|PUS7L_ENST00000344862.5_Silent_p.A178A|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Silent_p.A178A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	178					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTGCCTAATGGCACTGTGTA	0.358000													10	83					0	0	0.008291	0	0
ANTXR1	84168	broad.mit.edu	37	2	69472570	69472570	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:69472570A>G	ENST00000303714.4	+	18	1970	c.1648A>G	c.(1648-1650)Aac>Gac	p.N550D		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	550	Pro-rich.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						tccacctcccaacagggcacc	0.662000									Familial Infantile Hemangioma				6	54					0	0	0.001168	0	0
LMO1	4004	broad.mit.edu	37	11	8252036	8252036	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr11:8252036G>C	ENST00000335790.3	-	2	536	c.41C>G	c.(40-42)tCc>tGc	p.S14C	LMO1_ENST00000428101.2_Missense_Mutation_p.S13C|LMO1_ENST00000534484.1_Missense_Mutation_p.S3C	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	14					cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		GGGCTGGACGGAGAGCATCGG	0.592000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma							15	143					0	0	0.002450	0	0
SPTLC3	55304	broad.mit.edu	37	20	13140735	13140735	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr20:13140735C>T	ENST00000399002.2	+	11	1775	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	501					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGCTCGGGCTCGGTTTTGTGT	0.507000													4	83					0	0	0.000602	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17944985	17944987	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr1:17944985_17944987delCCT	ENST00000375408.3	+	1	175_177	c.137_139delCCT	c.(136-141)ccc>c	p.PS46del	ARHGEF10L_ENST00000167825.4_In_Frame_Del_p.PS46del|ARHGEF10L_ENST00000361221.3_Intron|ARHGEF10L_ENST00000375420.3_Intron|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000469726.1_Intron			Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	0					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCCGCTGTCcctcctcctcctc	0.680													2	4	---	---	---	---					
COL5A2	1290	broad.mit.edu	37	2	189916125	189916136	+	In_Frame_Del	DEL	CCATGAGAGCCA	CCATGAGAGCCA	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr2:189916125_189916136delCCATGAGAGCCA	ENST00000374866.3	-	42	3115_3126	c.2841_2852delTGGCTCTCATGG	c.(2839-2853)ccg>cc	p.PGSHG947del		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	947					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCACACGCCCATGAGAGCCAGGGTCCCCAC	0.608													8	75	---	---	---	---					
CTNNB1	1499	broad.mit.edu	37	3	41277959	41277960	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr3:41277959_41277960delAG	ENST00000349496.5	+	12	2203_2204	c.1923_1924delAG	c.(1921-1926)acagfs	p.TE641fs	CTNNB1_ENST00000396185.3_Frame_Shift_Del_p.TE641fs|CTNNB1_ENST00000405570.1_Frame_Shift_Del_p.TE641fs|CTNNB1_ENST00000453024.1_Frame_Shift_Del_p.TE634fs|CTNNB1_ENST00000396183.3_Frame_Shift_Del_p.TE641fs	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	641					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.E632_S681>SV(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTCCTCTGACAGAGTTACTTCA	0.465		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				14	112	---	---	---	---					
PDGFRB	5159	broad.mit.edu	37	5	149501528	149501528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr5:149501528delG	ENST00000261799.4	-	16	2728	c.2259delC	c.(2257-2259)ccfs	p.P753fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	753	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCAGCATGGGCACATAGT	0.542			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								13	66	---	---	---	---					
TBCC	6903	broad.mit.edu	37	6	42712835	42712836	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr6:42712835_42712836insG	ENST00000244625.2	-	2	1539_1540	c.976_977insC	c.(976-978)ggafs	p.G326fs	TBCC_ENST00000372876.1_Frame_Shift_Ins_p.G326fs			Q15814	TBCC_HUMAN	tubulin folding cofactor C	326					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GGCCATATCCCGGGCCAGCCAG	0.485													9	60	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139402475	139402475	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr9:139402475delC	ENST00000277541.6	-	21	3517	c.3442delG	c.(3442-3444)agfs	p.E1148fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1148	EGF-like 30.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTGAGCACTCGTCCACCAGG	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			9	91	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>AGGAGGggg	p.428_429insRR	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													2	4	---	---	---	---					
NOC3L	64318	broad.mit.edu	37	10	96117971	96117972	+	Splice_Site	INS	-	-	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr10:96117971_96117972insT	ENST00000371361.3	-	3	318_319	c.217_splice	c.e3-1	p.E73_splice	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Splice_Site_p.E73_splice	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	73						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CAATCCTTTTACCTGTACCACA	0.376													7	94	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53854894	53854895	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:53854894_53854895delGT	ENST00000603815.1	+	7	821_822	c.471_472delGT	c.(469-474)gagtfs	p.EC157fs	PCBP2_ENST00000549863.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000548933.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000541275.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000546463.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000455667.3_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000447282.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000439930.3_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000437231.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000359462.5_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000359282.5_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000552819.1_Frame_Shift_Del_p.EC157fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Frame_Shift_Del_p.EC157fs	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	157	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CCATCATTGAGTGTGTCAAACA	0.530													8	58	---	---	---	---					
CCDC60	160777	broad.mit.edu	37	12	119978433	119978435	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr12:119978433_119978435delCAT	ENST00000327554.2	+	14	2031_2033	c.1566_1568delCAT	c.(1564-1569)cac>ca	p.HI522del	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	522										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGCGAGAACACATCATCCATATG	0.527													17	155	---	---	---	---					
SERP2	387923	broad.mit.edu	37	13	44953805	44953807	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr13:44953805_44953807delGAC	ENST00000379179.3	+	2	297_299	c.113_115delGAC	c.(112-117)gca>g	p.GP38del		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	38					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		TATCCTGTGGGACCATGGCTGTT	0.414													15	182	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9091710	9091711	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:9091710_9091711insG	ENST00000397910.4	-	1	307_308	c.104_105insC	c.(103-105)aggfs	p.R35fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	35	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGGCTCCTGTCAGTCCTGA	0.525													7	38	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36215919	36215919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:36215919delT	ENST00000420124.1	+	10	3459	c.3459delT	c.(3457-3459)tcfs	p.S1153fs	WBP7_ENST00000222270.7_Frame_Shift_Del_p.S1153fs|KMT2B_ENST00000607650.1_RNA																							CCTTTGCTTCTTTTCCCAATG	0.587													17	93	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36218428	36218429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	55a7e73b-bbe2-4508-8067-036b3a5d5ad6	g.chr19:36218428_36218429insA	ENST00000420124.1	+	16	4207_4208	c.4207_4208insA	c.(4207-4209)ggcfs	p.G1403fs	WBP7_ENST00000222270.7_Frame_Shift_Ins_p.G1403fs|KMT2B_ENST00000607650.1_RNA																							CCGCTGGCGAGAGGCCCTGAGC	0.678													15	142	---	---	---	---					
ARHGEF10L	55160	broad.mit.edu	37	1	17944985	17944987	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr1:17944985_17944987delCCT	ENST00000375408.3	+	1	175_177	c.137_139delCCT	c.(136-141)ccc>c	p.PS46del	ARHGEF10L_ENST00000361221.3_Intron|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000375420.3_Intron|ARHGEF10L_ENST00000167825.4_In_Frame_Del_p.PS46del|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000469726.1_Intron			Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	0					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCCGCTGTCcctcctcctcctc	0.680													2	4	---	---	---	---					
COL5A2	1290	broad.mit.edu	37	2	189916125	189916136	+	In_Frame_Del	DEL	CCATGAGAGCCA	CCATGAGAGCCA	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr2:189916125_189916136delCCATGAGAGCCA	ENST00000374866.3	-	42	3115_3126	c.2841_2852delTGGCTCTCATGG	c.(2839-2853)ccg>cc	p.PGSHG947del		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	947					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCACACGCCCATGAGAGCCAGGGTCCCCAC	0.608													8	75	---	---	---	---					
CTNNB1	1499	broad.mit.edu	37	3	41277959	41277960	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr3:41277959_41277960delAG	ENST00000349496.5	+	12	2203_2204	c.1923_1924delAG	c.(1921-1926)acagfs	p.TE641fs	CTNNB1_ENST00000405570.1_Frame_Shift_Del_p.TE641fs|CTNNB1_ENST00000396185.3_Frame_Shift_Del_p.TE641fs|CTNNB1_ENST00000396183.3_Frame_Shift_Del_p.TE641fs|CTNNB1_ENST00000453024.1_Frame_Shift_Del_p.TE634fs	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	641					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.E632_S681>SV(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTCCTCTGACAGAGTTACTTCA	0.465		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				14	112	---	---	---	---					
PDGFRB	5159	broad.mit.edu	37	5	149501528	149501528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr5:149501528delG	ENST00000261799.4	-	16	2728	c.2259delC	c.(2257-2259)ccfs	p.P753fs		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	753	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCAGCATGGGCACATAGT	0.542			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								13	66	---	---	---	---					
TBCC	6903	broad.mit.edu	37	6	42712835	42712836	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr6:42712835_42712836insG	ENST00000244625.2	-	2	1539_1540	c.976_977insC	c.(976-978)ggafs	p.G326fs	TBCC_ENST00000372876.1_Frame_Shift_Ins_p.G326fs			Q15814	TBCC_HUMAN	tubulin folding cofactor C	326					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			GGCCATATCCCGGGCCAGCCAG	0.485													9	60	---	---	---	---					
NOC3L	64318	broad.mit.edu	37	10	96117971	96117972	+	Splice_Site	INS	-	-	T			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr10:96117971_96117972insT	ENST00000371361.3	-	3	318_319	c.217_splice	c.e3-1	p.E73_splice	NOC3L_ENST00000371350.1_Splice_Site_p.E73_splice|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	73						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CAATCCTTTTACCTGTACCACA	0.376													7	94	---	---	---	---					
PCBP2	5094	broad.mit.edu	37	12	53854894	53854895	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:53854894_53854895delGT	ENST00000603815.1	+	7	821_822	c.471_472delGT	c.(469-474)gagtfs	p.EC157fs	PCBP2_ENST00000359462.5_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000552819.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000552296.2_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000455667.3_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000447282.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000439930.3_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000437231.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000549863.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000541275.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000548933.1_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000359282.5_Frame_Shift_Del_p.EC157fs|PCBP2_ENST00000546463.1_Frame_Shift_Del_p.EC157fs|RP11-793H13.8_ENST00000547717.1_RNA	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	157	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CCATCATTGAGTGTGTCAAACA	0.530													8	58	---	---	---	---					
CCDC60	160777	broad.mit.edu	37	12	119978433	119978435	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr12:119978433_119978435delCAT	ENST00000327554.2	+	14	2031_2033	c.1566_1568delCAT	c.(1564-1569)cac>ca	p.HI522del	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	522										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGCGAGAACACATCATCCATATG	0.527													17	155	---	---	---	---					
SERP2	387923	broad.mit.edu	37	13	44953805	44953807	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr13:44953805_44953807delGAC	ENST00000379179.3	+	2	297_299	c.113_115delGAC	c.(112-117)gca>g	p.GP38del		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	38					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		TATCCTGTGGGACCATGGCTGTT	0.414													15	182	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Frame_Shift_Ins	INS	-	-	C	rs148075904	by1000genomes	TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr17:26684390_26684391insC	ENST00000540200.1	-	2	80_81	c.81_82insG	c.(79-84)aacgctfs	p.NA27fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	28						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													4	5	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9091710	9091711	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr19:9091710_9091711insG	ENST00000397910.4	-	1	307_308	c.104_105insC	c.(103-105)aggfs	p.R35fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	35	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGGCTCCTGTCAGTCCTGA	0.525													7	38	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36215919	36215919	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr19:36215919delT	ENST00000420124.1	+	10	3459	c.3459delT	c.(3457-3459)tcfs	p.S1153fs	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Frame_Shift_Del_p.S1153fs																							CCTTTGCTTCTTTTCCCAATG	0.587													17	93	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36218428	36218429	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr19:36218428_36218429insA	ENST00000420124.1	+	16	4207_4208	c.4207_4208insA	c.(4207-4209)ggcfs	p.G1403fs	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Frame_Shift_Ins_p.G1403fs																							CCGCTGGCGAGAGGCCCTGAGC	0.678													15	142	---	---	---	---					
SIGLEC16	400709	broad.mit.edu	37	19	50475364	50475365	+	RNA	INS	-	-	G			TCGA-CV-6938-01A-11D-1912-08	TCGA-CV-6938-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1dcb76e-b98f-4989-90a2-885e50d8174c	02eb342c-7609-47ec-a51f-eee833d572ce	g.chr19:50475364_50475365insG	ENST00000602139.1	+	0	1304									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						GCACTGTGAGTGGGGAAAGGGG	0.668													8	38	---	---	---	---