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
ZFP36L2	678	broad.mit.edu	37	2	43452849	43452849	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:43452849C>T	ENST00000282388.3	-	2	387	c.94G>A	c.(94-96)Gac>Aac	p.D32N	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	32					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GCCTTCTTGTCCAGCATGTTG	0.642000													7	18					0	0	0.003080	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73448546	73448546	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr14:73448546A>G	ENST00000556143.1	-	5	1981	c.1261T>C	c.(1261-1263)Ttt>Ctt	p.F421L	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.F421L|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.F6L|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.F6L|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.F421L	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	421						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCTGGAAAAAAGGAGCTGTGC	0.552000													3	131					0	0	0.000248	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42133453	42133453	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42133453C>T	ENST00000382448.4	+	11	1119	c.1110C>T	c.(1108-1110)gtC>gtT	p.V370V	PLA2G4B_ENST00000452633.1_Silent_p.V139V|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.V139V|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.V370V	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		139	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGTGGCTCGTCAGCAATGGCG	0.667000													17	85					0	0	0.006122	0	0
GPC2	221914	broad.mit.edu	37	7	99773453	99773453	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:99773453G>A	ENST00000292377.2	-	3	557	c.390C>T	c.(388-390)taC>taT	p.Y130Y		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	130						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGGCGGCCGTAGGAGTGGG	0.567000													41	50					0	0	0.003610	0	0
DNAJC11	55735	broad.mit.edu	37	1	6697514	6697514	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:6697514G>A	ENST00000377577.5	-	13	1497	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	DNAJC11_ENST00000294401.7_Silent_p.S406S|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000377573.5_Silent_p.S368S|DNAJC11_ENST00000542246.1_Silent_p.S420S|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	458					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCATTCTGGACTCTTCTG	0.582000													96	67					0	0	0.003610	0	0
STK31	56164	broad.mit.edu	37	7	23830531	23830531	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:23830531C>G	ENST00000354639.3	+	22	3121	c.2657C>G	c.(2656-2658)tCa>tGa	p.S886*	STK31_ENST00000433467.2_Nonsense_Mutation_p.S909*|STK31_ENST00000355870.3_Nonsense_Mutation_p.S909*|STK31_ENST00000428484.1_Nonsense_Mutation_p.S886*|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	909	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTCCAGGTTCAGACTTATAT	0.353000													10	31					0	0	0.006214	0	0
TBC1D13	54662	broad.mit.edu	37	9	131566365	131566365	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:131566365G>C	ENST00000372648.5	+	9	1035	c.885G>C	c.(883-885)ttG>ttC	p.L295F	TBC1D13_ENST00000223865.8_Intron|TBC1D13_ENST00000539497.1_Missense_Mutation_p.L114F	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	295	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						ACTCCACCTTGAAAGATAAGG	0.537000													15	60					0	0	0.003163	0	0
CYP2E1	1571	broad.mit.edu	37	10	135347301	135347301	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:135347301C>G	ENST00000463117.2	+	8	1139	c.867C>G	c.(865-867)atC>atG	p.I289M	CYP2E1_ENST00000252945.3_Missense_Mutation_p.I289M|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	289					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	p.I289I(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	TGGACGGTATCACCGTGACTG	0.527000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				29	130					0	0	0.002836	0	0
NOTCH1	4851	broad.mit.edu	37	9	139397641	139397641	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:139397641G>A	ENST00000277541.6	-	27	5235	c.5160C>T	c.(5158-5160)gcC>gcT	p.A1720A		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1720					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	p.A1721_V1722>YG(1)		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)		TACTCTGCACGGCCTCGATCT	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	41					0	0	0.006214	0	0
CRNN	49860	broad.mit.edu	37	1	152383333	152383333	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:152383333C>T	ENST00000271835.3	-	3	287	c.225G>A	c.(223-225)ctG>ctA	p.L75L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	75	EF-hand.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACACTAAGACCAGGAATTCCT	0.542000													30	53					0	0	0.007291	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132731	42132731	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42132731C>G	ENST00000382448.4	+	8	794	c.785C>G	c.(784-786)tCt>tGt	p.S262C	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S31C|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S31C|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S262C	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		31	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GTGACCCCCTCTGACTGCTAC	0.622000													17	62					0	0	0.004007	0	0
C21orf58	54058	broad.mit.edu	37	21	47737162	47737162	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr21:47737162C>G	ENST00000291691.7	-	3	1466	c.330G>C	c.(328-330)caG>caC	p.Q110H	C21orf58_ENST00000397685.4_Missense_Mutation_p.Q27H|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	110										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		CTTCCACGTTCTGCCGTTCTT	0.602000													6	12					0	0	0.004482	0	0
RNF146	81847	broad.mit.edu	37	6	127607982	127607982	+	Missense_Mutation	SNP	G	G	A	rs146049752		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:127607982G>A	ENST00000368314.1	+	3	648	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	RNF146_ENST00000356799.2_Missense_Mutation_p.R74Q|RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.R74Q	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	75					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GCTCTTTGTCGACAAGAAATT	0.443000													13	60					0	0	0.001368	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554462	135554462	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:135554462G>T	ENST00000372146.4	+	2	2020	c.1456G>T	c.(1456-1458)Ggt>Tgt	p.G486C	GTF3C4_ENST00000483873.2_3'UTR	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	486					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GAGCCCCTGCGGTGCATACCT	0.468000													15	76					7.93312e-07	1.37624e-06	0.002450	1	0
ATP6V1A	523	broad.mit.edu	37	3	113497631	113497631	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:113497631G>A	ENST00000273398.3	+	2	139	c.31G>A	c.(31-33)Gat>Aat	p.D11N	ATP6V1A_ENST00000538620.1_De_novo_Start_InFrame	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	11					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAAATACTCGATGAAGATAA	0.299000													5	34					0	0	0.001168	0	0
CCDC39	339829	broad.mit.edu	37	3	180359892	180359892	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:180359892C>A	ENST00000273654.4	-	19	2634	c.2015G>T	c.(2014-2016)aGa>aTa	p.R672I	CCDC39_ENST00000442201.2_Missense_Mutation_p.R588I			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	588					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGCTGTTTTCTTTTTTCTAG	0.358000													30	87					9.80776e-20	1.83312e-19	0.006320	1	0
OLFM3	118427	broad.mit.edu	37	1	102312416	102312416	+	Silent	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:102312416C>A	ENST00000338858.5	-	1	113	c.114G>T	c.(112-114)tcG>tcT	p.S38S	OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000370103.4_Intron|OLFM3_ENST00000359814.3_Silent_p.S38S			Q96PB7	NOE3_HUMAN	olfactomedin 3	38						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TATCCGGAGTCGACAGCCTCG	0.473000													10	54					9.70103e-10	1.73075e-09	0.008291	1	0
WWP1	11059	broad.mit.edu	37	8	87423945	87423945	+	Silent	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:87423945A>G	ENST00000517970.1	+	9	1210	c.903A>G	c.(901-903)gcA>gcG	p.A301A	WWP1_ENST00000349423.2_Silent_p.A83A|WWP1_ENST00000341922.2_Silent_p.A171A|WWP1_ENST00000265428.4_Silent_p.A301A	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	301					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CTACCAGTGCAGAATTGGAAT	0.403000													22	57					0	0	0.002299	0	0
OR9A4	130075	broad.mit.edu	37	7	141619410	141619410	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:141619410C>T	ENST00000548136.1	+	1	794	c.735C>T	c.(733-735)ttC>ttT	p.F245F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCTCCCACTTCACCTGTGTTG	0.502000													7	107					0	0	0.001984	0	0
DMP1	1758	broad.mit.edu	37	4	88583266	88583266	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:88583266C>A	ENST00000339673.6	+	6	435	c.336C>A	c.(334-336)gaC>gaA	p.D112E	DMP1_ENST00000282479.7_Missense_Mutation_p.D96E|RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	112					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding	p.D112D(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GTGGAGATGACACCTTTGGTG	0.478000													25	20					2.39556e-15	4.42475e-15	0.002780	1	0
VPS13A	23230	broad.mit.edu	37	9	79824394	79824394	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:79824394C>T	ENST00000360280.3	+	6	701	c.441C>T	c.(439-441)atC>atT	p.I147I	VPS13A_ENST00000376634.4_Silent_p.I147I|VPS13A_ENST00000376636.3_Silent_p.I147I|VPS13A_ENST00000357409.5_Silent_p.I147I	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	147					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTACACAGATCATAAAAAATC	0.254000													7	19					0	0	0.006214	0	0
KRT5	3852	broad.mit.edu	37	12	52912854	52912854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:52912854C>A	ENST00000252242.4	-	2	1036	c.646G>T	c.(646-648)Gag>Tag	p.E216*		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	216	Linker 1.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AACAACGGCTCCAGGTTCTGC	0.602000													43	77					4.16155e-14	7.64167e-14	0.008740	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011444	105011444	+	Silent	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chrX:105011444T>C	ENST00000372582.1	+	11	2607	c.1851T>C	c.(1849-1851)tgT>tgC	p.C617C	IL1RAPL2_ENST00000344799.4_Silent_p.C617C|IL1RAPL2_ENST00000538500.1_Silent_p.C222C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	617					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAGGCACTGTTGCAGAGGTT	0.483000													14	121					0	0	0.002450	0	0
SIT1	27240	broad.mit.edu	37	9	35650526	35650526	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:35650526C>A	ENST00000259608.3	-	2	295	c.209G>T	c.(208-210)cGg>cTg	p.R70L	SIT1_ENST00000474403.1_Intron	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	70					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTCCTGCTCCGGCCCCTGGT	0.597000													16	319					1.99824e-07	3.48581e-07	0.004990	1	0
GDF5OS	554250	broad.mit.edu	37	20	34022225	34022225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:34022225C>A	ENST00000374375.1	+	2	711	c.269C>A	c.(268-270)tCg>tAg	p.S90*	GDF5_ENST00000374369.3_Missense_Mutation_p.D330Y|GDF5_ENST00000374372.1_Missense_Mutation_p.D330Y																cervix(1)|endometrium(4)|lung(4)	9						GCGGCGCGGTCGAAGCCCAGG	0.632000													4	37					0.00024832	0.000414747	0.000248	1	0
KCNA2	3737	broad.mit.edu	37	1	111146468	111146468	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:111146468C>A	ENST00000485317.1	-	3	1610	c.937G>T	c.(937-939)Ggt>Tgt	p.G313C	KCNA2_ENST00000440270.1_Missense_Mutation_p.G313C|KCNA2_ENST00000316361.4_Missense_Mutation_p.G313C|KCNA2_ENST00000369770.3_Intron			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	313						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		ATCTGGAGACCTTTGGAGTGT	0.502000													21	71					7.41877e-09	1.3161e-08	0.001882	1	0
AKAP12	9590	broad.mit.edu	37	6	151671694	151671694	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:151671694C>T	ENST00000402676.2	+	4	2408	c.2168C>T	c.(2167-2169)aCg>aTg	p.T723M	AKAP12_ENST00000253332.1_Missense_Mutation_p.T723M|AKAP12_ENST00000354675.6_Missense_Mutation_p.T625M|AKAP12_ENST00000359755.5_Missense_Mutation_p.T618M	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	723					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GACAAAGAGACGGGGACAGAC	0.567000													12	133					0	0	0.001855	0	0
DHX8	1659	broad.mit.edu	37	17	41584941	41584941	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:41584941T>C	ENST00000262415.3	+	14	2066	c.1994T>C	c.(1993-1995)aTg>aCg	p.M665T	DHX8_ENST00000540306.1_Missense_Mutation_p.M665T	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	665	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACAGATGGGATGTTGCTTAGA	0.478000													13	60					0	0	0.001855	0	0
NRXN2	9379	broad.mit.edu	37	11	64457916	64457916	+	Missense_Mutation	SNP	C	C	A	rs138744105		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64457916C>A	ENST00000265459.6	-	5	1272	c.811G>T	c.(811-813)Ggg>Tgg	p.G271W	NRXN2_ENST00000409571.1_Missense_Mutation_p.G271W|NRXN2_ENST00000377559.3_Intron|NRXN2_ENST00000377551.1_Missense_Mutation_p.G271W	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	271					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCTCCTCTCCCGGCCCCCCCC	0.642000													8	47					0.000442599	0.000731454	0.006214	1	0
ITGA11	22801	broad.mit.edu	37	15	68605146	68605146	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:68605146C>T	ENST00000423218.2	-	24	3033	c.2938G>A	c.(2938-2940)Gat>Aat	p.D980N	ITGA11_ENST00000315757.7_Missense_Mutation_p.D980N			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	980					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CCGATACCATCGTATCTCTCC	0.637000													7	29					0	0	0.001984	0	0
LONP2	83752	broad.mit.edu	37	16	48382183	48382183	+	Silent	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:48382183G>C	ENST00000285737.4	+	14	2412	c.2319G>C	c.(2317-2319)ctG>ctC	p.L773L	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Silent_p.L729L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	773					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAATTACACTGAGAGGTCTTG	0.353000													31	112					0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179606289	179606289	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:179606289T>G	ENST00000589042.1	-	48	11895	c.11671A>C	c.(11671-11673)Aca>Cca	p.T3891P	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.T3720P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3528P|TTN_ENST00000591111.1_Missense_Mutation_p.T3574P|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T3653P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3574							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)			GCCATACATGTATACTCTCCC	0.393000													18	126					0	0	0.004990	0	0
ABCB6	10058	broad.mit.edu	37	2	220078866	220078866	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:220078866G>A	ENST00000265316.3	-	8	1745	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*	ABCB6_ENST00000439002.2_Nonsense_Mutation_p.R431*	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	477	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGCCTCTCGATAGCGTTCC	0.478000													34	103					0	0	0.004878	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42134763	42134763	+	Missense_Mutation	SNP	G	G	A	rs2290552	by1000genomes	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42134763G>A	ENST00000382448.4	+	15	1419	c.1410G>A	c.(1408-1410)atG>atA	p.M470I	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.M239I|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.M239I|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.M470I	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		239	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGCCCCTGATGAGAGTGGAGC	0.637000													7	37					0	0	0.001984	0	0
ZNF594	84622	broad.mit.edu	37	17	5087253	5087253	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:5087253C>T	ENST00000399604.4	-	1	439	c.299G>A	c.(298-300)aGa>aAa	p.R100K	ZNF594_ENST00000575779.1_Missense_Mutation_p.R100K			Q96JF6	ZN594_HUMAN	zinc finger protein 594	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AACCTCATATCTATGGGAGCT	0.373000													12	57					0	0	0.000978	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18809332	18809332	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:18809332C>G	ENST00000304414.7	-	3	416	c.205G>C	c.(205-207)Ggc>Cgc	p.G69R	ARL6IP1_ENST00000562819.1_Intron|RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.G69R|ARL6IP1_ENST00000546206.2_Missense_Mutation_p.G40R	NM_015161.1	NP_055976.1	Q15041	AR6P1_HUMAN	ADP-ribosylation factor-like 6 interacting protein 1	69						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						CAGGAAACGCCGGACAGAACA	0.343000													7	44					0	0	0.001984	0	0
RALGPS1	9649	broad.mit.edu	37	9	129974476	129974476	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:129974476G>A	ENST00000259351.5	+	15	1581	c.1314G>A	c.(1312-1314)ctG>ctA	p.L438L	RALGPS1_ENST00000373434.1_Silent_p.L396L|RALGPS1_ENST00000424082.2_Silent_p.L396L	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	438	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGGGCCTCTGAGAAGAAAAA	0.607000													11	28					0	0	0.000978	0	0
ABRA	137735	broad.mit.edu	37	8	107773700	107773700	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:107773700C>T	ENST00000311955.3	-	2	765	c.711G>A	c.(709-711)caG>caA	p.Q237Q		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	237					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GGCTATATTTCTGTTGGGCTT	0.423000													19	137					0	0	0.001882	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													5	70					0	0	0.003080	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678901	65678901	+	Missense_Mutation	SNP	C	C	T	rs147594173	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:65678901C>T	ENST00000352385.2	-	17	3148	c.2939G>A	c.(2938-2940)cGc>cAc	p.R980H		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	980						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GTGGGGGCTGCGGCGCAGGCC	0.632000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0	0	0.000602	0	0
FOXD4	2298	broad.mit.edu	37	9	117484	117484	+	Silent	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:117484G>T	ENST00000382500.2	-	1	933	c.636C>A	c.(634-636)ccC>ccA	p.P212P		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	212	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAAGGGGTGGGGCAGGTGGG	0.716000													13	747					9.16793e-09	1.61726e-08	0.004990	1	0
DNAH3	55567	broad.mit.edu	37	16	20975470	20975470	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:20975470G>C	ENST00000261383.3	-	53	9735	c.9736C>G	c.(9736-9738)Ctc>Gtc	p.L3246V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3246	AAA 5 (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)		GACATGGAGAGAACCTCCAAG	0.443000													33	98					0	0	0.002836	0	0
CD79A	973	broad.mit.edu	37	19	42383229	42383229	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:42383229G>A	ENST00000221972.3	+	2	434	c.249G>A	c.(247-249)ccG>ccA	p.P83P	CD79A_ENST00000444740.2_Silent_p.P83P	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	83	Ig-like C2-type.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TCTTGGGCCCGGGCGAGGACC	0.602000			"""O, S"""		DLBCL								6	100					0	0	0.001984	0	0
TMC6	11322	broad.mit.edu	37	17	76113582	76113582	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:76113582G>A	ENST00000590602.1	-	17	2324	c.2165C>T	c.(2164-2166)aCc>aTc	p.T722I	TMC6_ENST00000392467.3_Missense_Mutation_p.T722I|TMC6_ENST00000591436.1_Missense_Mutation_p.T301I|TMC6_ENST00000322914.3_Missense_Mutation_p.T722I|TMC6_ENST00000322933.4_Missense_Mutation_p.T301I|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	722						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GACAAAGAAGGTGTTTTCCAT	0.682000													4	7					0	0	0.000602	0	0
TACR1	6869	broad.mit.edu	37	2	75347732	75347732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:75347732C>T	ENST00000305249.4	-	2	1317	c.552G>A	c.(550-552)tgG>tgA	p.W184*	TACR1_ENST00000497764.1_5'UTR|TACR1_ENST00000409848.3_Nonsense_Mutation_p.W184*	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	184					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GATGCTCTGGCCATTCGATCA	0.547000													16	104					0	0	0.004007	0	0
CCDC57	284001	broad.mit.edu	37	17	80146213	80146213	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:80146213C>G	ENST00000392347.1	-	7	970	c.934G>C	c.(934-936)Gag>Cag	p.E312Q	CCDC57_ENST00000389641.4_Missense_Mutation_p.E312Q|CCDC57_ENST00000392343.3_Missense_Mutation_p.E312Q	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	312										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTCTGCAGCTCCTGCAGCTGC	0.642000													5	12					0	0	0.000602	0	0
USP36	57602	broad.mit.edu	37	17	76832439	76832439	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:76832439T>C	ENST00000312010.6	-	3	331	c.7A>G	c.(7-9)Ata>Gta	p.I3V	USP36_ENST00000542802.2_Missense_Mutation_p.I3V|USP36_ENST00000590546.2_Missense_Mutation_p.I3V|USP36_ENST00000589424.1_Missense_Mutation_p.I3V	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	3					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTATCCACTATTGGCATGGTG	0.493000													23	41					0	0	0.005443	0	0
GBP7	388646	broad.mit.edu	37	1	89613381	89613381	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:89613381G>A	ENST00000294671.2	-	8	1372	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	412						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TCTGAAAGCCGCTTAAGCTCA	0.438000													137	58					0	0	0.003610	0	0
EMC7	56851	broad.mit.edu	37	15	34380295	34380295	+	Silent	SNP	G	G	A	rs151160666		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:34380295G>A	ENST00000256545.4	-	4	643	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L		NM_020154.2	NP_064539.1			ER membrane protein complex subunit 7																		ACTTTAGGCAGAAGCACAAAT	0.358000													3	22					0	0	0.000248	0	0
CDCA2	157313	broad.mit.edu	37	8	25346199	25346199	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:25346199G>A	ENST00000330560.3	+	13	2142	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K	CDCA2_ENST00000380665.3_Silent_p.K540K|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	555	Lys-rich.				cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTCCTAAGAAGAGTCAGGTAA	0.313000													8	29					0	0	0.004482	0	0
FAM135A	57579	broad.mit.edu	37	6	71232223	71232223	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:71232223G>C	ENST00000418814.2	+	13	1651	c.1037G>C	c.(1036-1038)aGa>aCa	p.R346T	FAM135A_ENST00000457062.2_Missense_Mutation_p.R329T|FAM135A_ENST00000361499.3_Missense_Mutation_p.R346T|FAM135A_ENST00000370479.3_Missense_Mutation_p.R329T|FAM135A_ENST00000505868.1_Missense_Mutation_p.R346T|FAM135A_ENST00000505769.1_Missense_Mutation_p.R346T	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	346										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAGGTACGCAGATTTTCTGAG	0.353000													24	139					0	0	0.006320	0	0
DENND6A	201627	broad.mit.edu	37	3	57616485	57616485	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:57616485G>C	ENST00000311128.5	-	17	1544	c.1474C>G	c.(1474-1476)Cag>Gag	p.Q492E	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		GAGGTTAGCTGAGGTCCTGTT	0.353000													10	25					0	0	0.000978	0	0
ABCB8	11194	broad.mit.edu	37	7	150741174	150741174	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:150741174G>A	ENST00000358849.4	+	15	1975	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.E645K|ABCB8_ENST00000542328.1_Missense_Mutation_p.E540K|ABCB8_ENST00000498578.1_Missense_Mutation_p.E628K	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	645	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGGATGCAGAGTCCGAGCG	0.667000													6	22					0	0	0.001984	0	0
PDHX	8050	broad.mit.edu	37	11	34988327	34988327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:34988327C>T	ENST00000448838.3	+	6	979	c.737C>T	c.(736-738)cCa>cTa	p.P246L	PDHX_ENST00000227868.4_Missense_Mutation_p.P261L|PDHX_ENST00000430469.2_Intron	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	261					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CCTGTGATCCCACCAGTATCA	0.488000													24	41					0	0	0.003954	0	0
NRXN2	9379	broad.mit.edu	37	11	64390422	64390422	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64390422C>T	ENST00000265459.6	-	21	4437	c.3976G>A	c.(3976-3978)Gag>Aag	p.E1326K	NRXN2_ENST00000409571.1_Missense_Mutation_p.E1319K|NRXN2_ENST00000301894.2_Missense_Mutation_p.E280K|NRXN2_ENST00000377559.3_Missense_Mutation_p.E1256K|NRXN2_ENST00000377551.1_Missense_Mutation_p.E1326K	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1326	Laminin G-like 6.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGTCGCTCTCGGCGGCCAGC	0.706000													19	5					0	0	0.007413	0	0
ELTD1	64123	broad.mit.edu	37	1	79412073	79412073	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:79412073C>T	ENST00000370742.3	-	3	274	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	71	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTAGCATTTTCGCCACAGGAC	0.323000													18	11					0	0	0.001523	0	0
WDR76	79968	broad.mit.edu	37	15	44158387	44158387	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:44158387G>A	ENST00000263795.6	+	13	1748	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.E496K	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	560										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TCCTAAACAAGAAGACTGTGT	0.458000													16	54					0	0	0.004007	0	0
GSTT1	2952	broad.mit.edu	37	22	24379500	24379500	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:24379500A>G	ENST00000248935.5	-	3	264	c.212T>C	c.(211-213)cTg>cCg	p.L71P	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	71	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	CAGGTAGAGCAGGATGGCCAC	0.537000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				16	72					0	0	0.004007	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694349	153694349	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chrX:153694349G>T	ENST00000369682.3	+	14	2779	c.2604G>T	c.(2602-2604)ttG>ttT	p.L868F		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	868	IPT/TIG 1.				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)					TGGGCCTCTTGTCCCGAGAGG	0.652000													39	15					2.24893e-16	4.17849e-16	0.002222	1	0
ZNF346	23567	broad.mit.edu	37	5	176477792	176477792	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:176477792C>A	ENST00000503039.1	+	6	637	c.633C>A	c.(631-633)ttC>ttA	p.F211L	ZNF346_ENST00000506693.1_Missense_Mutation_p.F88L|ZNF346_ENST00000503425.1_Missense_Mutation_p.F154L|ZNF346_ENST00000358149.3_Missense_Mutation_p.F186L|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000511834.1_Missense_Mutation_p.F202L|ZNF346_ENST00000261948.4_Missense_Mutation_p.F211L			Q9UL40	ZN346_HUMAN	zinc finger protein 346	186						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	p.F186L(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGACAAGTTCTGCAGCCTCT	0.478000													13	44					1.49906e-05	2.57216e-05	0.002450	1	0
KIAA0100	9703	broad.mit.edu	37	17	26960318	26960318	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:26960318G>A	ENST00000528896.2	-	19	3641	c.3567C>T	c.(3565-3567)aaC>aaT	p.N1189N	KIAA0100_ENST00000544884.1_Silent_p.N1046N|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.N1046N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1189						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTGTTCTCACGTTGATATCCA	0.512000													26	123					0	0	0.003954	0	0
MDN1	23195	broad.mit.edu	37	6	90434920	90434920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:90434920G>A	ENST00000369393.3	-	38	5783	c.5668C>T	c.(5668-5670)Cag>Tag	p.Q1890*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.Q1890*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1890					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AATCTTACCTGAGTGAATCTG	0.423000													18	68					0	0	0.006122	0	0
ITPKB	3707	broad.mit.edu	37	1	226923395	226923395	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:226923395G>A	ENST00000429204.1	-	2	2092	c.1765C>T	c.(1765-1767)Cct>Tct	p.P589S	ITPKB_ENST00000272117.3_Missense_Mutation_p.P589S|ITPKB_ENST00000366784.1_Missense_Mutation_p.P589S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	589							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TTGCCCCGAGGGCTTCCCTGC	0.597000													11	35					0	0	0.008291	0	0
NAGA	4668	broad.mit.edu	37	22	42463795	42463795	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:42463795G>C	ENST00000396398.3	-	3	830	c.298C>G	c.(298-300)Cat>Gat	p.H100D	NAGA_ENST00000403363.1_Missense_Mutation_p.H100D|NAGA_ENST00000402937.1_Missense_Mutation_p.H100D	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	100					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGAATGCCATGAGGGAAGCGC	0.607000													17	99					0	0	0.004990	0	0
NELL2	4753	broad.mit.edu	37	12	44913891	44913891	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:44913891C>G	ENST00000429094.2	-	19	2801	c.2297G>C	c.(2296-2298)cGc>cCc	p.R766P	NELL2_ENST00000551601.1_Missense_Mutation_p.R718P|NELL2_ENST00000395487.2_Missense_Mutation_p.R765P|NELL2_ENST00000333837.4_Missense_Mutation_p.R789P|NELL2_ENST00000437801.2_Missense_Mutation_p.R816P|NELL2_ENST00000452445.2_Missense_Mutation_p.R766P|NELL2_ENST00000549027.1_Missense_Mutation_p.R765P	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	766	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATGTCATTGCGGATGGTGTC	0.552000													10	74					0	0	0.000978	0	0
KLHL2	11275	broad.mit.edu	37	4	166231784	166231784	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:166231784C>T	ENST00000226725.6	+	10	1378	c.1119C>T	c.(1117-1119)taC>taT	p.Y373Y	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Silent_p.Y377Y|KLHL2_ENST00000506761.1_Silent_p.Y207Y|KLHL2_ENST00000538127.1_Silent_p.Y285Y|KLHL2_ENST00000421009.2_Silent_p.Y276Y	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	373					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TAGATTCCTACGACCCTGTGA	0.478000													94	394					0	0	0.003610	0	0
DAG1	1605	broad.mit.edu	37	3	49570156	49570156	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:49570156G>C	ENST00000545947.1	+	6	2934	c.2212G>C	c.(2212-2214)Gac>Cac	p.D738H	DAG1_ENST00000541308.1_Missense_Mutation_p.D738H|DAG1_ENST00000538711.1_Missense_Mutation_p.D738H|DAG1_ENST00000515359.2_Missense_Mutation_p.D738H|DAG1_ENST00000539901.1_Missense_Mutation_p.D738H|DAG1_ENST00000308775.2_Missense_Mutation_p.D738H	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	738					cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AGAAGTGCCTGACAGGGACCC	0.592000													6	18					0	0	0.001168	0	0
PPEF2	5470	broad.mit.edu	37	4	76794404	76794404	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:76794404C>T	ENST00000286719.7	-	12	1738	c.1382G>A	c.(1381-1383)cGa>cAa	p.R461Q		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	461	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCCTCCTCCTCGAATAGTGTT	0.458000													41	32					0	0	0.002522	0	0
KCNS3	3790	broad.mit.edu	37	2	18112572	18112572	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:18112572C>T	ENST00000403915.1	+	3	748	c.297C>T	c.(295-297)ttC>ttT	p.F99F	KCNS3_ENST00000304101.4_Silent_p.F99F|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	99					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATTCTCATTCTGCCAGGAGA	0.468000													37	77					0	0	0.006230	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179294796	179294796	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:179294796C>T	ENST00000356834.3	-	18	2882	c.2845G>A	c.(2845-2847)Gag>Aag	p.E949K	TBC1D9B_ENST00000519746.1_Missense_Mutation_p.E125K|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E949K|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.E107K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	949						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCTGTCCTCTGTGAAATAA	0.632000													8	15					0	0	0.006214	0	0
OR4C46	119749	broad.mit.edu	37	11	51516007	51516007	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:51516007C>T	ENST00000328188.1	+	1	726	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCTCCCACATCACGGTTGTCA	0.468000													23	45					0	0	0.003330	0	0
CEP85L	387119	broad.mit.edu	37	6	118887087	118887087	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:118887087C>G	ENST00000368491.3	-	3	1246	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	CEP85L_ENST00000419517.2_Missense_Mutation_p.E209Q|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.E212Q|CEP85L_ENST00000360290.3_Missense_Mutation_p.E107Q|CEP85L_ENST00000392500.3_Missense_Mutation_p.E212Q	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	209						centrosome											CTAAGCATCTCCATACTATCA	0.413000													4	157					0	0	0.000248	0	0
FAM19A5	25817	broad.mit.edu	37	22	49042418	49042418	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:49042418C>T	ENST00000358295.5	+	2	276	c.101C>T	c.(100-102)gCc>gTc	p.A34V	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.A41V	NM_015381.5	NP_056196.2	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	41						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		GGTCAGCTGGCCGCCGGCACC	0.677000													21	47					0	0	0.002780	0	0
CALCR	799	broad.mit.edu	37	7	93055850	93055850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:93055850G>A	ENST00000359558.2	-	16	1644	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*	CALCR_ENST00000421592.1_Nonsense_Mutation_p.Q431*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.Q431*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.Q415*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.Q415*	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	431	Poly-Ala.				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CCCCAACGCTGGTTCCACTGA	0.547000													45	71					0	0	0.003610	0	0
MYLK	4638	broad.mit.edu	37	3	123452859	123452859	+	Silent	SNP	C	C	T	rs115018449	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:123452859C>T	ENST00000360772.3	-	11	1362	c.984G>A	c.(982-984)tcG>tcA	p.S328S	MYLK_ENST00000359169.1_Silent_p.S328S|MYLK_ENST00000346322.5_Silent_p.S328S|MYLK_ENST00000475616.1_Silent_p.S328S|MYLK_ENST00000360304.3_Silent_p.S328S			Q15746	MYLK_HUMAN	myosin light chain kinase	328					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCGTTCTGGGCGAGTCCTTGC	0.647000													17	110					0	0	0.004990	0	0
CDK19	23097	broad.mit.edu	37	6	111067348	111067348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:111067348G>A	ENST00000368911.3	-	2	364	c.185C>T	c.(184-186)tCg>tTg	p.S62L	CDK19_ENST00000323817.3_Missense_Mutation_p.S2L	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	62	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCTACAAGCCGACATGGATAT	0.279000													9	109					0	0	0.006214	0	0
ATP13A3	79572	broad.mit.edu	37	3	194167697	194167697	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:194167697T>C	ENST00000439040.1	-	14	2247	c.1456A>G	c.(1456-1458)Ata>Gta	p.I486V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.I486V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	486					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CAAATATTTATTCTTTGAGGA	0.383000													51	106					0	0	0.003610	0	0
BRINP3	339479	broad.mit.edu	37	1	190068199	190068199	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:190068199C>T	ENST00000367462.3	-	8	1481	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	FAM5C_ENST00000534846.1_Missense_Mutation_p.G315D|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		417						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGAAAAGCTGCCTAGGAGGCC	0.517000													4	42					0	0	0.000248	0	0
ABCC5	10057	broad.mit.edu	37	3	183707056	183707056	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:183707056T>C	ENST00000334444.6	-	3	485	c.245A>G	c.(244-246)cAt>cGt	p.H82R	ABCC5_ENST00000382494.2_Missense_Mutation_p.H82R|ABCC5_ENST00000392579.2_Missense_Mutation_p.H82R|ABCC5_ENST00000265586.6_Missense_Mutation_p.H82R|ABCC5_ENST00000427120.2_Missense_Mutation_p.H82R	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	82						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAAGCCATGATGGTACTTTCC	0.502000													23	54					0	0	0.002780	0	0
VPS53	55275	broad.mit.edu	37	17	617910	617910	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:617910C>G	ENST00000437048.2	-	1	186	c.40G>C	c.(40-42)Gaa>Caa	p.E14Q	VPS53_ENST00000571805.1_Missense_Mutation_p.E14Q|VPS53_ENST00000401468.3_Missense_Mutation_p.E14Q|VPS53_ENST00000291074.5_Missense_Mutation_p.E14Q|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Missense_Mutation_p.E14Q	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	14					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		AGCACGGCTTCCAGCTCCTCC	0.701000													16	99					0	0	0.003163	0	0
UNC5B	219699	broad.mit.edu	37	10	73050851	73050851	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:73050851A>C	ENST00000335350.6	+	9	1695	c.1279A>C	c.(1279-1281)Aag>Cag	p.K427Q	UNC5B_ENST00000373192.4_Missense_Mutation_p.K416Q	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	427					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CGTCAACTTTAAGACGGCAAG	0.607000													19	178					0	0	0.002780	0	0
DEFB127	140850	broad.mit.edu	37	20	139650	139650	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:139650G>A	ENST00000382388.3	+	2	360	c.285G>A	c.(283-285)aaG>aaA	p.K95K		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	95					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			CAAGCCTGAAGACACAGTCTA	0.353000													8	30					0	0	0.004482	0	0
PEX26	55670	broad.mit.edu	37	22	18570779	18570779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:18570779C>T	ENST00000329627.6	+	6	1062	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F	PEX26_ENST00000428061.2_Missense_Mutation_p.L237F|PEX26_ENST00000399744.3_Missense_Mutation_p.L286F	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	286					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GCTGGCCCAGCTCTTCCGCTG	0.617000													98	192					0	0	0.003610	0	0
SPOCK3	50859	broad.mit.edu	37	4	167675844	167675844	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:167675844G>C	ENST00000357154.3	-	9	892	c.755C>G	c.(754-756)tCa>tGa	p.S252*	SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.S209*|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.S252*|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000541637.1_Nonsense_Mutation_p.S154*|SPOCK3_ENST00000512681.1_Nonsense_Mutation_p.S154*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000421836.2_Nonsense_Mutation_p.S201*|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.S252*|SPOCK3_ENST00000541354.1_Nonsense_Mutation_p.S132*|SPOCK3_ENST00000534949.1_Nonsense_Mutation_p.S156*|SPOCK3_ENST00000535728.1_Nonsense_Mutation_p.S120*|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.S249*|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.S252*	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	252					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CCAGCCAAGTGAGTCCTTGCA	0.373000													16	65					0	0	0.006122	0	0
MAB21L1	4081	broad.mit.edu	37	13	36050072	36050072	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:36050072G>A	ENST00000379919.4	-	1	760	c.204C>T	c.(202-204)gtC>gtT	p.V68V	NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	68					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TGGGGGAGATGACCTCGAGGC	0.552000													24	64					0	0	0.003330	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42134775	42134775	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42134775G>A	ENST00000382448.4	+	15	1431	c.1422G>A	c.(1420-1422)ctG>ctA	p.L474L	PLA2G4B_ENST00000452633.1_Silent_p.L243L|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.L243L|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L474L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		243	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GAGTGGAGCTGAAAAAAGAAG	0.627000													7	38					0	0	0.001984	0	0
ITGA7	3679	broad.mit.edu	37	12	56087845	56087845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:56087845G>A	ENST00000257880.7	-	20	2846	c.2627C>T	c.(2626-2628)tCt>tTt	p.S876F	ITGA7_ENST00000394230.2_Missense_Mutation_p.S836F|ITGA7_ENST00000394229.2_Missense_Mutation_p.S832F|ITGA7_ENST00000555728.1_Missense_Mutation_p.S876F|ITGA7_ENST00000452168.2_Missense_Mutation_p.S739F|ITGA7_ENST00000553804.1_Missense_Mutation_p.S836F|ITGA7_ENST00000257879.6_Missense_Mutation_p.S832F|ITGA7_ENST00000347027.6_Missense_Mutation_p.S826F			Q13683	ITA7_HUMAN	integrin, alpha 7	876					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATCCCGCTCAGACTGCATGGC	0.592000													4	21					0	0	0.000248	0	0
DOCK9	23348	broad.mit.edu	37	13	99476728	99476728	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:99476728C>A	ENST00000376460.1	-	46	5134	c.5054G>T	c.(5053-5055)aGg>aTg	p.R1685M	DOCK9_ENST00000339416.2_Missense_Mutation_p.R1686M|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1686	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGTAATGACCCTGAAGGCGGT	0.542000													30	85					9.65021e-13	1.73152e-12	0.002096	1	0
GPR179	440435	broad.mit.edu	37	17	36482452	36482452	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:36482452C>A	ENST00000342292.4	-	11	7020	c.7000G>T	c.(7000-7002)Gag>Tag	p.E2334*	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2334						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACTGAGACTCAGCTTCCTGG	0.507000													29	135					1.75199e-13	3.19839e-13	0.007291	1	0
C2CD2	25966	broad.mit.edu	37	21	43338269	43338269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr21:43338269G>C	ENST00000380486.3	-	5	906	c.665C>G	c.(664-666)tCt>tGt	p.S222C	C2CD2_ENST00000329623.7_Missense_Mutation_p.S67C	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	222						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGGAGAGGCAGAACCAGCCAA	0.512000													31	46					0	0	0.002445	0	0
KCNS3	3790	broad.mit.edu	37	2	18113212	18113212	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:18113212C>T	ENST00000403915.1	+	3	1388	c.937C>T	c.(937-939)Cta>Tta	p.L313L	KCNS3_ENST00000304101.4_Silent_p.L313L|KCNS3_ENST00000465292.1_Intron			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	313					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTTCGGTCTCTAGGTGCCAC	0.498000													44	103					0	0	0.002222	0	0
NIPAL1	152519	broad.mit.edu	37	4	48036925	48036925	+	Silent	SNP	C	C	T	rs138156539	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:48036925C>T	ENST00000295461.5	+	5	555	c.489C>T	c.(487-489)aaC>aaT	p.N163N	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	163						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACTTTTTAAACGAGCACTTGA	0.383000													23	26					0	0	0.005443	0	0
PCCA	5095	broad.mit.edu	37	13	100982841	100982841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:100982841C>T	ENST00000376285.1	+	17	1494	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	PCCA_ENST00000376279.3_Nonsense_Mutation_p.R486*|PCCA_ENST00000376286.4_Nonsense_Mutation_p.R460*	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	486	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGCATTACTTCGAGAGGTGAT	0.323000													5	31					0	0	0.000602	0	0
PTCH1	5727	broad.mit.edu	37	9	98218642	98218642	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:98218642G>A	ENST00000430669.2	-	19	3609	c.3024C>T	c.(3022-3024)atC>atT	p.I1008I	PTCH1_ENST00000418258.1_Silent_p.I923I|PTCH1_ENST00000437951.1_Silent_p.I1008I|PTCH1_ENST00000375274.2_Silent_p.I1073I|PTCH1_ENST00000421141.1_Silent_p.I923I|PTCH1_ENST00000429896.2_Silent_p.I923I|PTCH1_ENST00000331920.6_Silent_p.I1074I			Q13635	PTC1_HUMAN	patched 1	1074					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.V1057_L1102del(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GCTTGATTCCGATGAGGCCCA	0.587000													29	36					0	0	0.006320	0	0
MYO1H	283446	broad.mit.edu	37	12	109863801	109863801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:109863801C>G	ENST00000310903.5	+	18	1834	c.1728C>G	c.(1726-1728)atC>atG	p.I576M	MYO1H_ENST00000431443.2_Missense_Mutation_p.I586M			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAACCCTCATCTCTAAGGAGC	0.502000													12	38					0	0	0.004007	0	0
OR4F4	26682	broad.mit.edu	37	15	102462360	102462360	+	Silent	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:102462360A>G	ENST00000326183.3	-	1	938	c.903T>C	c.(901-903)tcT>tcC	p.S301S		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ACTTTACACTAGAATGTGCAT	0.343000													23	267					0	0	0.003330	0	0
PCDH20	64881	broad.mit.edu	37	13	61987588	61987588	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:61987588G>A	ENST00000409186.1	-	5	2749	c.644C>T	c.(643-645)tCg>tTg	p.S215L	PCDH20_ENST00000409204.4_Missense_Mutation_p.S215L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	188	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GACCCACACCGAGATCTGGGA	0.532000													18	63					0	0	0.008871	0	0
AKAP12	9590	broad.mit.edu	37	6	151672232	151672232	+	Silent	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:151672232A>G	ENST00000402676.2	+	4	2946	c.2706A>G	c.(2704-2706)gcA>gcG	p.A902A	AKAP12_ENST00000253332.1_Silent_p.A902A|AKAP12_ENST00000354675.6_Silent_p.A804A|AKAP12_ENST00000359755.5_Silent_p.A797A	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	902					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGACGAGGGCAGCTACCATTA	0.532000													19	52					0	0	0.008871	0	0
POLE	5426	broad.mit.edu	37	12	133245062	133245062	+	Missense_Mutation	SNP	G	G	A	rs116326665	by1000genomes	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:133245062G>A	ENST00000320574.5	-	19	2096	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	POLE_ENST00000535270.1_Missense_Mutation_p.R658W	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	685					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGCTGGATCCGATGGTATTCG	0.592000								DNA polymerases (catalytic subunits)					41	85					0	0	0.008740	0	0
SMARCA2	6595	broad.mit.edu	37	9	2182188	2182188	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:2182188G>C	ENST00000382203.1	+	31	4616	c.4407G>C	c.(4405-4407)aaG>aaC	p.K1469N	SMARCA2_ENST00000302401.3_Missense_Mutation_p.K157N|SMARCA2_ENST00000382186.1_Missense_Mutation_p.K133N|SMARCA2_ENST00000324954.5_Missense_Mutation_p.K115N|SMARCA2_ENST00000382185.1_Missense_Mutation_p.K115N|SMARCA2_ENST00000382194.1_Missense_Mutation_p.K1451N|SMARCA2_ENST00000357248.2_Missense_Mutation_p.K1451N|SMARCA2_ENST00000349721.2_Missense_Mutation_p.K1469N			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1469	Bromo.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACCTGGAGAAGGATGTCATGC	0.438000													39	508					0	0	0.006999	0	0
SIM1	6492	broad.mit.edu	37	6	100911241	100911241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:100911241G>A	ENST00000369208.3	-	2	886	c.104C>T	c.(103-105)tCg>tTg	p.S35L	SIM1_ENST00000262901.4_Missense_Mutation_p.S35L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	35	Helix-loop-helix motif.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCCAGCTGCGAGGTGATAGC	0.453000													15	58					0	0	0.003163	0	0
MEP1A	4224	broad.mit.edu	37	6	46801214	46801214	+	Missense_Mutation	SNP	T	T	A	rs142787710	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:46801214T>A	ENST00000230588.4	+	11	1557	c.1548T>A	c.(1546-1548)gaT>gaA	p.D516E		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	516	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGAGCCTGATGTCCGGAACA	0.517000													15	141					0	0	0.006122	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99448936	99448936	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:99448936G>A	ENST00000397899.2	-	5	746	c.415C>T	c.(415-417)Cct>Tct	p.P139S	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		CCCCCTGGAGGAGGTGGTGGC	0.502000													24	48					0	0	0.002780	0	0
BAG4	9530	broad.mit.edu	37	8	38034583	38034583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:38034583G>A	ENST00000287322.4	+	1	467	c.196G>A	c.(196-198)Ggc>Agc	p.G66S	BAG4_ENST00000432471.2_Missense_Mutation_p.G66S|BAG4_ENST00000521282.1_3'UTR	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	66					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GCTGGGAGAAGGCGGAGGAGG	0.672000													8	16					0	0	0.003080	0	0
APMAP	57136	broad.mit.edu	37	20	24944531	24944531	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:24944531T>G	ENST00000217456.2	-	9	1459	c.1169A>C	c.(1168-1170)gAg>gCg	p.E390A	APMAP_ENST00000447138.1_3'UTR	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		TTCGTGCACCTCGCTGATGTA	0.612000													52	57					0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170009390	170009390	+	Missense_Mutation	SNP	C	C	T	rs142934522	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:170009390C>T	ENST00000263816.3	-	67	12665	c.12380G>A	c.(12379-12381)cGc>cAc	p.R4127H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4127					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R4127H(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGATTATTGCGGCCGGATTC	0.473000													94	245					0	0	0.003610	0	0
APOL1	8542	broad.mit.edu	37	22	36657700	36657700	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:36657700G>A	ENST00000319136.4	+	6	561	c.294G>A	c.(292-294)caG>caA	p.Q98Q	APOL1_ENST00000426053.1_Silent_p.Q64Q|APOL1_ENST00000397278.3_Silent_p.Q82Q|APOL1_ENST00000397279.4_Silent_p.Q82Q|APOL1_ENST00000347595.7_5'UTR|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000422706.1_Silent_p.Q82Q	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	82					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TGAGCACACAGAATCTGCTAC	0.473000													18	58					0	0	0.008871	0	0
GRHL2	79977	broad.mit.edu	37	8	102585906	102585906	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:102585906C>T	ENST00000251808.3	+	6	1083	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	GRHL2_ENST00000395927.1_Nonsense_Mutation_p.Q233*	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	249						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGGCACATTTCAGTACACCCT	0.473000													44	62					0	0	0.002522	0	0
MTUS1	57509	broad.mit.edu	37	8	17611659	17611659	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr8:17611659A>C	ENST00000381869.3	-	2	2131	c.1658T>G	c.(1657-1659)tTg>tGg	p.L553W	MTUS1_ENST00000381862.3_Missense_Mutation_p.L553W|MTUS1_ENST00000519263.1_Missense_Mutation_p.L553W|MTUS1_ENST00000262102.6_Missense_Mutation_p.L553W	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	553						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGTTCTGCTCAAGACTGTTTG	0.428000													39	148					0	0	0.006230	0	0
TIA1	7072	broad.mit.edu	37	2	70444000	70444000	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:70444000C>G	ENST00000416149.2	-	8	624	c.601G>C	c.(601-603)Gaa>Caa	p.E201Q	TIA1_ENST00000445587.1_Intron|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000415783.2_Intron|TIA1_ENST00000282574.4_Intron|TIA1_ENST00000482876.1_Intron|TIA1_ENST00000433529.2_Intron			P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	303					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						ATTTCCTTTTCTTCTCCAATA	0.428000													62	306					0	0	0.003610	0	0
NLRP8	126205	broad.mit.edu	37	19	56459551	56459551	+	Nonsense_Mutation	SNP	C	C	T	rs145469757	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:56459551C>T	ENST00000291971.3	+	1	354	c.283C>T	c.(283-285)Cga>Tga	p.R95*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.R95*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	95	DAPIN.					cytoplasm	ATP binding	p.R95*(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTTCCCTGGACGACGCGCTTG	0.512000													13	26					0	0	0.001855	0	0
LAMC1	3915	broad.mit.edu	37	1	183086740	183086740	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:183086740G>C	ENST00000258341.4	+	10	2016	c.1759G>C	c.(1759-1761)Gat>Cat	p.D587H		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	587	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACAGGCGAGATACTCGCCT	0.507000													67	43					0	0	0.003610	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132977	42132977	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:42132977C>T	ENST00000382448.4	+	9	927	c.918C>T	c.(916-918)gtC>gtT	p.V306V	PLA2G4B_ENST00000452633.1_Silent_p.V75V|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.V75V|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.V306V	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		75	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TCCAGAATGTCATGGAACTGA	0.592000													20	62					0	0	0.001882	0	0
TEC	7006	broad.mit.edu	37	4	48172263	48172263	+	Splice_Site	SNP	A	A	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:48172263A>C	ENST00000381501.3	-	5	612		c.e5+1			NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase						intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATGAATACTTACTGCTCTCAA	0.318000													16	50					0	0	0.004007	0	0
HIP1	3092	broad.mit.edu	37	7	75172195	75172195	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:75172195G>A	ENST00000336926.6	-	28	2891	c.2865C>T	c.(2863-2865)tcC>tcT	p.S955S	HIP1_ENST00000434438.2_Silent_p.S904S	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	955	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTGATTTGCCGGAAATGGTTG	0.562000			T	PDGFRB	CMML								4	98					0	0	0.000248	0	0
PPHLN1	51535	broad.mit.edu	37	12	42792759	42792759	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:42792759C>G	ENST00000432191.2	+	8	779	c.707C>G	c.(706-708)tCt>tGt	p.S236C	PPHLN1_ENST00000549190.1_Missense_Mutation_p.S309C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S291C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.S243C|PPHLN1_ENST00000256678.8_Missense_Mutation_p.S171C|PPHLN1_ENST00000337898.6_Missense_Mutation_p.S236C|PPHLN1_ENST00000317560.9_Missense_Mutation_p.S224C|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S272C|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S298C|PPHLN1_ENST00000395568.2_Missense_Mutation_p.S291C	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	291					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		ACCACTCGCTCTAAAGCAATA	0.393000													21	43					0	0	0.001882	0	0
FRMPD1	22844	broad.mit.edu	37	9	37731065	37731065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:37731065G>A	ENST00000539465.1	+	9	1416	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	FRMPD1_ENST00000536622.1_Missense_Mutation_p.E97K|FRMPD1_ENST00000377765.3_Missense_Mutation_p.E275K|FRMPD1_ENST00000541302.1_Missense_Mutation_p.E144K|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	275	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCTCCTGAAAGAAGACCCCGT	0.517000													35	244					0	0	0.003755	0	0
EIF2B1	1967	broad.mit.edu	37	12	124107222	124107222	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:124107222G>A	ENST00000539951.1	-	6	625	c.599C>T	c.(598-600)tCt>tTt	p.S200F	EIF2B1_ENST00000424014.2_Silent_p.L238L			Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	0					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TTAGTGGAAAGAGCCGGACAA	0.418000													16	79					0	0	0.004007	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													4	26					0	0	0.000248	0	0
HK3	3101	broad.mit.edu	37	5	176308438	176308438	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr5:176308438G>T	ENST00000292432.5	-	18	2583	c.2492C>A	c.(2491-2493)gCt>gAt	p.A831D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	831	Catalytic.			A -> V (in Ref. 4; AAC50422).	glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGACACAGCCTGGCACAC	0.652000													3	21					6.4e-05	0.000108627	0.004672	1	0
RCBTB1	55213	broad.mit.edu	37	13	50123786	50123786	+	Splice_Site	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:50123786T>C	ENST00000378302.2	-	9	1115		c.e9-2		RCBTB1_ENST00000258646.3_Splice_Site|RCBTB1_ENST00000546015.1_Splice_Site	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1						cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TCTACCACCCTGAAAAGTTTT	0.502000													3	60					0	0	0.004672	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184841	130184841	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:130184841G>T	ENST00000422113.2	-	2	808	c.482C>A	c.(481-483)gCc>gAc	p.A161D		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	161						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTCTCCCCGGCGCTGCGGTC	0.642000													7	24					8.12818e-05	0.000137218	0.001984	1	0
NBPF10	100132406	broad.mit.edu	37	1	145368630	145368630	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:145368630G>A	ENST00000342960.5	+	84	10643	c.10608G>A	c.(10606-10608)ttG>ttA	p.L3536L	NBPF10_ENST00000369338.1_Silent_p.L652L|NBPF10_ENST00000369339.2_Silent_p.L654L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3536										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)		TTTTTACTTTGACGGTGACAA	0.463000													44	311					0	0	0.003610	0	0
CHAD	1101	broad.mit.edu	37	17	48542772	48542772	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:48542772C>T	ENST00000508540.1	-	3	1119	c.967G>A	c.(967-969)Gat>Aat	p.D323N	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.D323N|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000541920.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	323	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGGTGGCATCTGGGCGGGAG	0.617000													12	52					0	0	0.000978	0	0
TTC21B	79809	broad.mit.edu	37	2	166764213	166764213	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:166764213C>A	ENST00000243344.7	-	19	2680	c.2543G>T	c.(2542-2544)gGt>gTt	p.G848V		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	848						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GATCGCATCACCAAGTTTTTC	0.393000													17	36					2.37509e-13	4.31086e-13	0.001523	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	44					0	0	0.004672	0	0
CD97	976	broad.mit.edu	37	19	14512333	14512333	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:14512333C>T	ENST00000242786.5	+	10	1113	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	CD97_ENST00000358600.3_Silent_p.L252L|CD97_ENST00000357355.3_Silent_p.L296L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	345					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGCCAAGAGCCTGCCTAAAGG	0.622000													7	51					0	0	0.001984	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021432	51021432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:51021432G>A	ENST00000599957.1	-	3	1735	c.1538C>T	c.(1537-1539)cCg>cTg	p.P513L	LRRC4B_ENST00000389201.3_Missense_Mutation_p.P513L			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	513	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGGCCCTGGCGGTTCCTTCTC	0.736000													6	15					0	0	0.001984	0	0
ZNFX1	57169	broad.mit.edu	37	20	47870298	47870298	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:47870298T>A	ENST00000396105.1	-	11	3256	c.3010A>T	c.(3010-3012)Ata>Tta	p.I1004L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.I1004L|ZNFX1_ENST00000371754.4_Missense_Mutation_p.I1004L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1004							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTTCCACTATGACAATCCTC	0.527000													109	213					0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10296300	10296300	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:10296300C>A	ENST00000403437.2	-	37	5405	c.5311G>T	c.(5311-5313)Gag>Tag	p.E1771*	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1771					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTTCAGCTCCTCAGCCATC	0.483000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				36	147					6.70999e-13	1.21088e-12	0.004289	1	0
NFE2L3	9603	broad.mit.edu	37	7	26225363	26225363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:26225363C>T	ENST00000056233.3	+	4	2304	c.2045C>T	c.(2044-2046)tCa>tTa	p.S682L		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	682					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CTGGTGGCCTCAGGCCACAAA	0.418000													13	41					0	0	0.001368	0	0
DHRS2	10202	broad.mit.edu	37	14	24114362	24114362	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr14:24114362C>G	ENST00000250383.6	+	9	1219	c.743C>G	c.(742-744)tCa>tGa	p.S248*	DHRS2_ENST00000344777.7_Missense_Mutation_p.Q252E	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	226					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ATTGGGGAGTCAGAGGACTGT	0.567000													33	111					0	0	0.004289	0	0
GDF5	8200	broad.mit.edu	37	20	34025402	34025402	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:34025402C>T	ENST00000374372.1	-	3	810	c.307G>A	c.(307-309)Ggc>Agc	p.G103S	GDF5_ENST00000374369.3_Missense_Mutation_p.G103S			P43026	GDF5_HUMAN	growth differentiation factor 5	103					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGTTCAGGGCCGCCCGGTCTG	0.632000													29	46					0	0	0.002096	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			39	75					0	0	0.007835	0	0
SEPT9	10801	broad.mit.edu	37	17	75484325	75484325	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:75484325T>C	ENST00000329047.8	+	5	1804	c.992T>C	c.(991-993)aTt>aCt	p.I331T	SEPT9_ENST00000585930.1_Missense_Mutation_p.I125T|SEPT9_ENST00000427180.1_Missense_Mutation_p.I237T|SEPT9_ENST00000423034.2_Missense_Mutation_p.I342T|SEPT9_ENST00000592951.1_Missense_Mutation_p.I98T|SEPT9_ENST00000591198.1_Missense_Mutation_p.I330T|SEPT9_ENST00000588690.1_Missense_Mutation_p.I185T|SEPT9_ENST00000590294.1_Missense_Mutation_p.I331T|SEPT9_ENST00000591088.1_Missense_Mutation_p.I98T|SEPT9_ENST00000427674.2_Missense_Mutation_p.I185T|SEPT9_ENST00000541152.2_Missense_Mutation_p.I98T|SEPT9_ENST00000427177.1_Missense_Mutation_p.I349T|SEPT9_ENST00000431235.2_Missense_Mutation_p.I185T|SEPT9_ENST00000449803.2_Missense_Mutation_p.I185T|SEPT9_ENST00000592481.1_3'UTR	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	349					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGTGCAGATATTGAGGAGAAA	0.612000													27	42					0	0	0.005443	0	0
TLE4	7091	broad.mit.edu	37	9	82187743	82187743	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr9:82187743G>A	ENST00000376520.4	+	1	866	c.38G>A	c.(37-39)aGa>aAa	p.R13K	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Missense_Mutation_p.R13K|TLE4_ENST00000376544.3_Missense_Mutation_p.R13K|TLE4_ENST00000376552.2_Missense_Mutation_p.R13K|TLE4_ENST00000265284.6_Missense_Mutation_p.R13K			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCGCAGACCAGACACCCAGTG	0.672000													8	41					0	0	0.003080	0	0
HPS3	84343	broad.mit.edu	37	3	148880010	148880010	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:148880010G>A	ENST00000296051.2	+	12	2322	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K	HPS3_ENST00000460120.1_Missense_Mutation_p.E563K	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	728						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTTCCAACCGAGCTTGCACT	0.428000									Hermansky-Pudlak syndrome				15	88					0	0	0.002450	0	0
VPS33A	65082	broad.mit.edu	37	12	122723220	122723220	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr12:122723220C>A	ENST00000267199.4	-	10	1328	c.1216G>T	c.(1216-1218)Gtg>Ttg	p.V406L	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.V367L	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	406					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		AGTCTTAACACCTTGATCAAC	0.343000													61	124					3.13765e-25	5.93508e-25	0.003610	1	0
KDM7A	80853	broad.mit.edu	37	7	139829433	139829433	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:139829433T>C	ENST00000397560.2	-	4	516	c.419A>G	c.(418-420)aAg>aGg	p.K140R	JHDM1D_ENST00000006967.5_Missense_Mutation_p.K140R	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		140					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GCCATGCATCTTTATAATTAT	0.353000													24	47					0	0	0.002780	0	0
RBM38	55544	broad.mit.edu	37	20	55982844	55982844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:55982844C>T	ENST00000356208.5	+	4	837	c.662C>T	c.(661-663)gCg>gTg	p.A221V	RBM38_ENST00000371219.2_Missense_Mutation_p.A140V	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	221					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GCAGCACCCGCGGGCACCACT	0.682000													3	10					0	0	0.004672	0	0
HACL1	26061	broad.mit.edu	37	3	15642612	15642612	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:15642612C>G	ENST00000321169.5	-	2	538	c.171G>C	c.(169-171)atG>atC	p.M57I	HACL1_ENST00000451445.2_Missense_Mutation_p.M57I|HACL1_ENST00000457447.2_Missense_Mutation_p.M57I|HACL1_ENST00000456194.2_Missense_Mutation_p.M57I|HACL1_ENST00000435217.2_Missense_Mutation_p.M57I	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	57					fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						GCTCATTCCTCATCCCGATGT	0.507000													8	24					0	0	0.006214	0	0
ERCC6	2074	broad.mit.edu	37	10	50678260	50678260	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:50678260T>A	ENST00000355832.5	-	18	3824	c.3746A>T	c.(3745-3747)gAt>gTt	p.D1249V	ERCC6_ENST00000542458.1_Missense_Mutation_p.D619V|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1249					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CAAAACATAATCGTCATTGCT	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)					113	89					0	0	0.003610	0	0
DUOXA2	405753	broad.mit.edu	37	15	45408913	45408913	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:45408913C>T	ENST00000323030.5	+	4	825	c.540C>T	c.(538-540)gcC>gcT	p.A180A		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	180					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GACACTACGCCTCGGCCACGC	0.647000													7	17					0	0	0.001984	0	0
FKBP2	2286	broad.mit.edu	37	11	64009862	64009862	+	Translation_Start_Site	SNP	G	G	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64009862G>T	ENST00000394540.3	+	2	473	c.3G>T	c.(1-3)atG>atT	p.M1I	FKBP2_ENST00000309366.4_Start_Codon_SNP_p.M1I|FKBP2_ENST00000449942.2_Start_Codon_SNP_p.M1I	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	1					protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						ACAGAGACATGAGGCTGAGCT	0.647000													14	104					3.45872e-05	5.90238e-05	0.004007	1	0
MMP1	4312	broad.mit.edu	37	11	102663445	102663445	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:102663445G>C	ENST00000315274.6	-	7	991	c.924C>G	c.(922-924)ttC>ttG	p.F308L	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	308	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CTTCCGGGTAGAAGGGATTTG	0.433000													17	41					0	0	0.008871	0	0
DISP2	85455	broad.mit.edu	37	15	40655921	40655921	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr15:40655921C>T	ENST00000267889.3	+	2	302	c.215C>T	c.(214-216)cCc>cTc	p.P72L		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	72					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCTTCAGGACCCCCACCAACA	0.657000													36	65					0	0	0.002836	0	0
LPAL2	80350	broad.mit.edu	37	6	160908301	160908301	+	RNA	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr6:160908301C>G	ENST00000335388.5	-	0	671					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GAAGTATCCTCTCGTCTTGGA	0.502000													11	34					0	0	0.000978	0	0
CHD9	80205	broad.mit.edu	37	16	53272475	53272475	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:53272475G>A	ENST00000566029.1	+	12	3063	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	CHD9_ENST00000564845.1_Missense_Mutation_p.E952K|CHD9_ENST00000447540.1_Missense_Mutation_p.E952K|CHD9_ENST00000398510.3_Missense_Mutation_p.E952K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	952	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACAGCAATACGAGATGTACTT	0.373000													46	127					0	0	0.003610	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70819809	70819809	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:70819809G>A	ENST00000370944.4	-	1	596	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	ANKRD13C_ENST00000262346.6_Silent_p.L95L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	95					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						GTGCCGGCCAGAAGGGCCGGG	0.672000													45	17					0	0	0.002852	0	0
GFRA4	64096	broad.mit.edu	37	20	3644019	3644019	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr20:3644019G>A	ENST00000290417.2	-	1	27	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	GFRA4_ENST00000319242.3_Silent_p.L10L	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	10						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						AGCAGCAGCAGCAGCGCAGGC	0.637000													9	12					0	0	0.008291	0	0
DHCR7	1717	broad.mit.edu	37	11	71148918	71148918	+	Silent	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:71148918G>A	ENST00000355527.3	-	8	1179	c.903C>T	c.(901-903)caC>caT	p.H301H	DHCR7_ENST00000407721.2_Silent_p.H301H	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	301					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACCACCCGAAGTGGTCATGGC	0.582000									Smith-Lemli-Opitz syndrome				12	93					0	0	0.001855	0	0
FKBP2	2286	broad.mit.edu	37	11	64011493	64011493	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:64011493G>C	ENST00000394540.3	+	6	891	c.421G>C	c.(421-423)Gag>Cag	p.E141Q	FKBP2_ENST00000309366.4_Missense_Mutation_p.E141Q|FKBP2_ENST00000449942.2_Missense_Mutation_p.E141Q	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	141					protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						GCGACGAACTGAGCTGTAACC	0.517000													16	136					0	0	0.008871	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11374111	11374111	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr11:11374111G>C	ENST00000528848.2	-	1	793	c.556C>G	c.(556-558)Caa>Gaa	p.Q186E	GALNT18_ENST00000227756.4_Intron|RP11-567I13.1_ENST00000526867.1_RNA	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		TTATATTCTTGGCCAGGATGA	0.423000													26	51					0	0	0.008361	0	0
FRG2B	441581	broad.mit.edu	37	10	135438868	135438868	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:135438868G>A	ENST00000443774.1	-	4	624	c.575C>T	c.(574-576)gCc>gTc	p.A192V	FRG2B_ENST00000425520.1_Missense_Mutation_p.A191V			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	191						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCACACCTGGGCTAGGTCTTG	0.572000													10	101					0	0	0.000978	0	0
SETD5	55209	broad.mit.edu	37	3	9488977	9488977	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:9488977T>C	ENST00000402466.1	+	15	2242	c.1474T>C	c.(1474-1476)Tct>Cct	p.S492P	SETD5_ENST00000406341.1_Missense_Mutation_p.S590P|SETD5_ENST00000402198.1_Missense_Mutation_p.S590P|SETD5_ENST00000407969.1_Missense_Mutation_p.S609P|SETD5_ENST00000302463.6_Missense_Mutation_p.S492P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	590										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TACCCGGAGGTCTTCCCAAGC	0.423000													48	106					0	0	0.003610	0	0
FBXO40	51725	broad.mit.edu	37	3	121340738	121340738	+	Silent	SNP	T	T	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:121340738T>C	ENST00000338040.4	+	3	876	c.462T>C	c.(460-462)acT>acC	p.T154T		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	154					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GAGAGGCTACTGAGGAGGAAC	0.507000													24	23					0	0	0.002780	0	0
MTTP	4547	broad.mit.edu	37	4	100534246	100534246	+	Silent	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:100534246C>T	ENST00000457717.1	+	16	2422	c.2166C>T	c.(2164-2166)ggC>ggT	p.G722G	MTTP_ENST00000511045.1_Silent_p.G749G|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.G722G	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	722					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CAGCATCTGGCGACCCTATCA	0.423000													11	60					0	0	0.008291	0	0
DOCK4	9732	broad.mit.edu	37	7	111517169	111517169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:111517169C>T	ENST00000428084.1	-	17	1933	c.1661G>A	c.(1660-1662)gGg>gAg	p.G554E	DOCK4_ENST00000437633.1_Missense_Mutation_p.G554E|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	554	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ATTATTATTCCCAAGGAAAAT	0.338000													13	9					0	0	0.001368	0	0
ACE	1636	broad.mit.edu	37	17	61571742	61571742	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:61571742C>G	ENST00000577647.1	+	11	1614	c.1569C>G	c.(1567-1569)taC>taG	p.Y523*	ACE_ENST00000421982.2_Nonsense_Mutation_p.Y343*|ACE_ENST00000490216.2_Nonsense_Mutation_p.Y523*|ACE_ENST00000428043.1_Nonsense_Mutation_p.Y1097*|ACE_ENST00000413513.3_Nonsense_Mutation_p.Y523*|ACE_ENST00000290863.6_Nonsense_Mutation_p.Y523*|ACE_ENST00000290866.4_Nonsense_Mutation_p.Y1097*			P12821	ACE_HUMAN	angiotensin I converting enzyme	1097	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGCTGAAGTACCAGGGCCTCT	0.552000													4	45					0	0	0.000248	0	0
PEG3	5178	broad.mit.edu	37	19	57335633	57335633	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr19:57335633C>T	ENST00000326441.9	-	4	754	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	ZIM2_ENST00000601070.1_Missense_Mutation_p.E5K|ZIM2_ENST00000599935.1_Missense_Mutation_p.E5K|ZIM2_ENST00000221722.5_Missense_Mutation_p.E5K|ZIM2_ENST00000593931.1_Missense_Mutation_p.E5K|PEG3_ENST00000593695.1_Missense_Mutation_p.E5K|ZIM2_ENST00000593711.1_Missense_Mutation_p.E5K|PEG3_ENST00000423103.2_Missense_Mutation_p.E131K|PEG3_ENST00000598410.1_Missense_Mutation_p.E5K|ZIM2_ENST00000391708.3_Missense_Mutation_p.E5K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	131					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTCTCACCTTCTGGTTGGTAC	0.547000													14	102					0	0	0.002450	0	0
LIG4	3981	broad.mit.edu	37	13	108863582	108863582	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:108863582G>C	ENST00000356922.4	-	2	307	c.35C>G	c.(34-36)tCt>tGt	p.S12C	LIG4_ENST00000405925.1_Missense_Mutation_p.S12C|LIG4_ENST00000442234.1_Missense_Mutation_p.S12C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	12					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGGAACGTGAGATGCAACAGT	0.353000								Non-homologous end-joining					8	24					0	0	0.003080	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198315	170198315	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:170198315C>A	ENST00000231706.4	-	7	2071	c.1756G>T	c.(1756-1758)Ggt>Tgt	p.G586C	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	586						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TAGTCAGAACCAAAGATGATG	0.552000													12	56					0.00010058	0.000168888	0.001368	1	0
ODF2L	57489	broad.mit.edu	37	1	86838147	86838148	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:86838147_86838148insT	ENST00000359242.3	-	9	1167_1168	c.886_887insA	c.(886-888)cgafs	p.R296fs	ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.R296fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.R296fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.R165fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.R296fs|ODF2L_ENST00000370566.3_Frame_Shift_Ins_p.R296fs	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	296						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTCCAATTCGGTTTTTTCTATC	0.257													2	4	---	---	---	---					
OR2T7	81458	broad.mit.edu	37	1	248604559	248604560	+	Frame_Shift_Ins	INS	-	-	TC	rs58223479	by1000genomes	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr1:248604559_248604560insTC	ENST00000460972.3	+	1	52_53	c.52_53insTC	c.(52-54)cttfs	p.L18fs						olfactory receptor, family 2, subfamily T, member 7																		TTCCCCTGGCTTCTTTGCCCTC	0.515													3	4	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													8	189	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													4	6	---	---	---	---					
PHOX2B	8929	broad.mit.edu	37	4	41747993	41748013	+	In_Frame_Del	DEL	GCCGCCGCTGCCGCTGCCGCC	GCCGCCGCTGCCGCTGCCGCC	-	rs17884724		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr4:41747993_41748013delGCCGCCGCTGCCGCTGCCGCC	ENST00000226382.2	-	3	1115_1135	c.756_776delGGCGGCAGCGGCAGCGGCGGC	c.(754-777)gca>gc	p.AAAAAAAA252del		NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	252	Poly-Ala.				positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GCCTCCAgctgccgccgctgccgctgccgccgccgccgctg	0.819			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				3	5	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													3	3	---	---	---	---					
MAPK8	5599	broad.mit.edu	37	10	49634078	49634079	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr10:49634078_49634079delTT	ENST00000374189.1	+	8	1017_1018	c.836_837delTT	c.(835-837)cfs	p.L279fs	MAPK8_ENST00000360332.3_Frame_Shift_Del_p.L279fs|MAPK8_ENST00000374182.3_Frame_Shift_Del_p.L279fs|MAPK8_ENST00000395611.3_Intron			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	279	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CCTGATGTCCTTTTCCCAGCTG	0.386													24	70	---	---	---	---					
ESRRAP2	144832	broad.mit.edu	37	13	21867825	21867825	+	RNA	DEL	A	A	-			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:21867825delA	ENST00000453309.2	+	0	551																											CATCCAATTGAAAAAAAATAG	0.443													2	4	---	---	---	---					
TPTE2P2	644623	broad.mit.edu	37	13	52853920	52853920	+	RNA	DEL	G	G	-			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr13:52853920delG	ENST00000451298.1	-	0	562				RP11-64P12.8_ENST00000606031.1_RNA																							TTAAACTTATGACTACACAGT	0.338													2	4	---	---	---	---					
NUDT7	283927	broad.mit.edu	37	16	77775743	77775744	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr16:77775743_77775744insA	ENST00000268533.5	+	4	682_683	c.613_614insA	c.(613-615)aaafs	p.K205fs	NUDT7_ENST00000437314.3_Frame_Shift_Ins_p.K152fs|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	205					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TATCATTTTGGAAAAAAAACCC	0.381													11	33	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577102	7577119	+	In_Frame_Del	DEL	CCAGGACAGGCACAAACA	CCAGGACAGGCACAAACA	-	rs17849781		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:7577102_7577119delCCAGGACAGGCACAAACA	ENST00000420246.2	-	8	951_968	c.819_836delTGTTTGTGCCTGTCCTGG	c.(817-837)cgg>cg	p.RVCACPG273del	TP53_ENST00000359597.4_In_Frame_Del_p.RVCACPG273del|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Del_p.RVCACPG273del|TP53_ENST00000455263.2_In_Frame_Del_p.RVCACPG273del|TP53_ENST00000269305.4_In_Frame_Del_p.RVCACPG273del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(61)|p.P278S(55)|p.C275Y(53)|p.C275F(37)|p.G279E(32)|p.P278R(30)|p.P278A(24)|p.C277F(24)|p.P278T(23)|p.V274F(21)|p.V274A(19)|p.C277Y(15)|p.A276P(15)|p.P278H(13)|p.V274L(11)|p.V274D(9)|p.A276S(9)|p.G279R(9)|p.R280fs*65(8)|p.C277*(8)|p.V274G(8)|p.0?(8)|p.A276V(7)|p.C275G(7)|p.C275W(7)|p.C275R(7)|p.A276T(7)|p.A276D(6)|p.P278fs*67(5)|p.C277G(5)|p.C275fs*70(4)|p.G279V(4)|p.C275C(4)|p.C277C(4)|p.A276G(4)|p.V274I(4)|p.P278F(3)|p.V274V(3)|p.C275fs*31(2)|p.C275S(2)|p.A276fs*69(2)|p.G279W(2)|p.P278fs*28(2)|p.C277fs*29(2)|p.?(2)|p.C277W(2)|p.G279fs*65(2)|p.A276A(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274fs*71(1)|p.R273_C275delRVC(1)|p.G279_R280delGR(1)|p.R273R(1)|p.E258fs*71(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.R280fs*62(1)|p.E271_R273delEVR(1)|p.R273S(1)|p.C275*(1)|p.G279fs*59(1)|p.C277_P278insXXXXXXX(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.A276fs*68(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.R273fs*71(1)|p.P278P(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTCTCTCCCAGGACAGGCACAAACACGCACCTCAA	0.541		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			17	20	---	---	---	---					
NOS2P1	645740	broad.mit.edu	37	17	25988693	25988702	+	RNA	DEL	CACAGGTGGC	CACAGGTGGC	-	rs3217511		TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr17:25988693_25988702delCACAGGTGGC	ENST00000583179.1	-	0	1982_1991																											GATGTAAAAGCACAGGTGGCCACAGGTTAC	0.500													3	3	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15343746	15343749	+	RNA	DEL	TCTG	TCTG	-			TCGA-CV-6940-01A-11D-1912-08	TCGA-CV-6940-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f2e005-79f9-4c63-a6d6-0b378481a3ba	f92c1496-9e4b-4bc6-97df-635b907b5029	g.chr21:15343746_15343749delTCTG	ENST00000344693.5	-	0	736					NR_027270.1																						CTCTGTGCTTTCTGATGTGCTGCT	0.407													4	2	---	---	---	---					
