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
TRIB1	10221	broad.mit.edu	37	8	126445604	126445604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr8:126445604C>T	ENST00000311922.3	+	2	988	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000521778.1_3'UTR	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	136	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.Q136*(1)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			GCCTTACATCCAGCTGCCATC	0.512000													6	205					0	0	0.029380	0	0
TRAP1	10131	broad.mit.edu	37	16	3725361	3725361	+	Silent	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr16:3725361G>A	ENST00000575671.1	-	3	954	c.225C>T	c.(223-225)ccC>ccT	p.P75P	TRAP1_ENST00000573872.1_5'UTR|TRAP1_ENST00000246957.5_Silent_p.P284P|TRAP1_ENST00000538171.1_Silent_p.P231P			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	284					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	p.P284P(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TCAAGTACAAGGGGAAGCTGA	0.483000													6	28					0	0	0.029380	0	0
KMT2C	58508	broad.mit.edu	37	7	151849821	151849821	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr7:151849821C>A	ENST00000355193.2	-	50	12884	c.12666G>T	c.(12664-12666)caG>caT	p.Q4222H	KMT2C_ENST00000262189.6_Missense_Mutation_p.Q4165H					lysine (K)-specific methyltransferase 2C									p.Q4165H(1)|p.Q4222H(1)									GTACATTAGGCTGCTTCAGCC	0.473000													16	88					3.52763e-06	3.90225e-06	0.033300	1	0
ATXN1	6310	broad.mit.edu	37	6	16327538	16327538	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr6:16327538C>T	ENST00000244769.4	-	8	1940	c.1004G>A	c.(1003-1005)gGg>gAg	p.G335E	ATXN1_ENST00000436367.1_Missense_Mutation_p.G335E	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	335					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	p.G335E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GGACGGGGCCCCGTACCGCCG	0.682000													21	70					0	0	0.055883	0	0
MYO16	23026	broad.mit.edu	37	13	109496821	109496821	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr13:109496821G>A	ENST00000356711.2	+	10	1288	c.1162G>A	c.(1162-1164)Ggt>Agt	p.G388S	MYO16_ENST00000357550.2_Missense_Mutation_p.G388S|MYO16_ENST00000251041.5_Missense_Mutation_p.G388S	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	388					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.G388S(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CATGATGAGCGGTTCCACCAA	0.388000													7	43					0	0	0.047766	0	0
CDK12	51755	broad.mit.edu	37	17	37687195	37687195	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr17:37687195G>C	ENST00000447079.4	+	14	4132	c.4099G>C	c.(4099-4101)Gtc>Ctc	p.V1367L	CDK12_ENST00000430627.2_Missense_Mutation_p.V1358L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1367					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.V1367L(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGAATCCTTGGTCCAGACCCT	0.537000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			9	38					0	0	0.047766	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.136_splice	c.e3-1	p.G46_splice	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000													8	16					0	0	0.038395	0	0
ABLIM3	22885	broad.mit.edu	37	5	148626096	148626096	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr5:148626096G>A	ENST00000506113.1	+	16	2020	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_5'UTR|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R402H|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R418H|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R513H|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R402H|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R480H			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	513					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.R513H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTTGACCGCAGCATGCAC	0.493000													3	48					0	0	0.009096	0	0
STK11	6794	broad.mit.edu	37	19	1220717	1220717	+	Splice_Site	SNP	G	G	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr19:1220717G>T	ENST00000326873.7	+	5	1907		c.e5+1			NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(6)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCACCCTGTAAGTGCCCC	0.711000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			7	22					0.0381472	0.0387675	0.038147	1	0
CREBBP	1387	broad.mit.edu	37	16	3817765	3817765	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr16:3817765C>T	ENST00000262367.5	-	16	4015	c.3206G>A	c.(3205-3207)gGc>gAc	p.G1069D	CREBBP_ENST00000382070.3_Missense_Mutation_p.G1031D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1069					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.G1069D(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGAGGCTGTGCCGTTACTGCT	0.428000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						4	113					0	0	0.009096	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449827	85449827	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:85449827A>C	ENST00000393217.2	+	8	1317	c.1256A>C	c.(1255-1257)aAg>aCg	p.K419T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	419								p.K419T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCAAATGATAAGGGTGATATA	0.318000													15	95					0	0	0.146539	0	0
COQ9	57017	broad.mit.edu	37	16	57490845	57490845	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr16:57490845A>G	ENST00000262507.6	+	5	593	c.524A>G	c.(523-525)aAg>aGg	p.K175R	COQ9_ENST00000567933.1_Intron|COQ9_ENST00000567072.1_Intron	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	175					ubiquinone biosynthetic process	mitochondrion		p.K175R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TCTTCCAGGAAGAGGAAGACA	0.537000													8	23					0	0	0.038147	0	0
ANKRD26	22852	broad.mit.edu	37	10	27329051	27329051	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr10:27329051C>T	ENST00000376087.4	-	21	2383	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	739						centrosome		p.E740K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTTAAGTTCTAATAATCTT	0.299000													10	32					0	0	0.058154	0	0
NLGN2	57555	broad.mit.edu	37	17	7315483	7315483	+	Silent	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr17:7315483C>T	ENST00000302926.2	+	2	538	c.465C>T	c.(463-465)ctC>ctT	p.L155L	NLGN2_ENST00000575301.1_Silent_p.L155L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	155					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	p.L155L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TAGGTCCGCTCACAAAAAAAC	0.522000													12	23					0	0	0.093190	0	0
OR8H3	390152	broad.mit.edu	37	11	55890333	55890333	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr11:55890333C>A	ENST00000313472.3	+	1	485	c.485C>A	c.(484-486)tCc>tAc	p.S162Y		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162Y(1)|p.S162F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AATGTGGTTTCCATGAGCAGA	0.438000													34	155					1.36615e-20	1.642e-20	0.054565	1	0
AHNAK2	113146	broad.mit.edu	37	14	105413727	105413727	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr14:105413727C>T	ENST00000333244.5	-	7	8180	c.8061G>A	c.(8059-8061)atG>atA	p.M2687I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2687						nucleus		p.M2687I(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTCCCCTTGCATGGAGGGGA	0.607000													9	167					0	0	0.058154	0	0
WDR90	197335	broad.mit.edu	37	16	715599	715599	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr16:715599G>T	ENST00000547944.1	+	1	416	c.29G>T	c.(28-30)gGg>gTg	p.G10V	WDR90_ENST00000315764.4_Missense_Mutation_p.G10V|WDR90_ENST00000293879.4_Intron|WDR90_ENST00000547543.1_Intron|WDR90_ENST00000549091.1_Intron			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1022										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCCGGCCCTGGGGGCTGGAAT	0.647000													7	30					0.00198382	0.0021015	0.029380	1	0
KLF11	8462	broad.mit.edu	37	2	10192429	10192429	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr2:10192429G>A	ENST00000535335.1	+	4	1499	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	KLF11_ENST00000540845.1_Missense_Mutation_p.R428H|KLF11_ENST00000305883.1_Missense_Mutation_p.R445H	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	445					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R445H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TCACGCCACCGCAGAACTCAC	0.537000													4	63					0	0	0.009096	0	0
COQ10A	93058	broad.mit.edu	37	12	56664024	56664024	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:56664024C>T	ENST00000308197.5	+	5	928	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	COQ10A_ENST00000546544.1_Missense_Mutation_p.R206C|COQ10A_ENST00000433805.2_Missense_Mutation_p.R191C	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	223						mitochondrial inner membrane		p.R223C(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TGCCTTTGAGCGTCGGGCAGC	0.517000													4	113					0	0	0.009096	0	0
NMUR2	56923	broad.mit.edu	37	5	151775143	151775143	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr5:151775143C>A	ENST00000255262.3	-	3	979	c.814G>T	c.(814-816)Gtc>Ttc	p.V272F	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	272					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.V272F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AAGACCAAGACAACTGAAAAT	0.458000													4	11					0.00024832	0.000267586	0.009096	1	0
ASCL3	56676	broad.mit.edu	37	11	8959615	8959615	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr11:8959615C>A	ENST00000325884.1	-	2	153	c.94G>T	c.(94-96)Gag>Tag	p.E32*	ASCL3_ENST00000531618.1_Nonsense_Mutation_p.E32*	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	31					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding	p.E32*(1)		breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		ACCATGGGCTCCAGATAGAAG	0.547000													7	119					1.12685e-05	1.23558e-05	0.047766	1	0
WDR11	55717	broad.mit.edu	37	10	122622304	122622304	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr10:122622304C>T	ENST00000263461.6	+	5	830	c.584C>T	c.(583-585)tCa>tTa	p.S195L		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	195						integral to membrane		p.S195L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AAGCCTCCCTCAGGCCCTGGG	0.443000													7	145					0	0	0.047766	0	0
KEAP1	9817	broad.mit.edu	37	19	10602796	10602796	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr19:10602796C>G	ENST00000171111.5	-	3	1329	c.782G>C	c.(781-783)cGg>cCg	p.R261P	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.R261P	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	261	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.R261P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GACGTAGAACCGTCGCTGTTC	0.632000													13	36					0	0	0.132662	0	0
P2RY6	5031	broad.mit.edu	37	11	73007896	73007896	+	Silent	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr11:73007896C>T	ENST00000393590.2	+	2	632	c.333C>T	c.(331-333)caC>caT	p.H111H	P2RY6_ENST00000540124.1_Silent_p.H111H|P2RY6_ENST00000349767.2_Silent_p.H111H|P2RY6_ENST00000393592.2_Silent_p.H111H|P2RY6_ENST00000540342.1_Silent_p.H111H|P2RY6_ENST00000393591.1_Silent_p.H111H|P2RY6_ENST00000542092.1_Silent_p.H111H|P2RY6_ENST00000538328.1_Silent_p.H111H	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	111					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.H111H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CCAACCTGCACGGCAGCATCC	0.647000													14	106					0	0	0.146539	0	0
SLC27A3	11000	broad.mit.edu	37	1	153748035	153748035	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:153748035A>G	ENST00000271857.2	+	1	1206	c.446A>G	c.(445-447)cAc>cGc	p.H149R	SLC27A3_ENST00000368661.3_Missense_Mutation_p.H68R|SLC27A3_ENST00000484014.1_Intron			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	68					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	p.H68R(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ctgAAGCTACACCTCTGGCCG	0.667000													7	13					0	0	0.029380	0	0
MRPL45P2	653479	broad.mit.edu	37	17	45569830	45569830	+	RNA	SNP	T	T	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr17:45569830T>C	ENST00000575291.1	-	0	6																											TGCCATCTTGTTCCCGCAAAG	0.587000													5	43					0	0	0.021553	0	0
FAM3D	131177	broad.mit.edu	37	3	58629398	58629398	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr3:58629398G>T	ENST00000358781.2	-	6	623	c.313C>A	c.(313-315)Ctg>Atg	p.L105M		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	105					negative regulation of insulin secretion	extracellular region	cytokine activity	p.L105M(1)		large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CCATTCACCAGGGCGATGTTT	0.498000													10	39					1.08611e-07	1.22309e-07	0.080935	1	0
RCAN1	1827	broad.mit.edu	37	21	35898979	35898979	+	Silent	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr21:35898979G>A	ENST00000381132.2	-	1	282	c.69C>T	c.(67-69)ttC>ttT	p.F23F	RCAN1_ENST00000487990.1_Intron|RCAN1_ENST00000443408.2_Intron|RCAN1_ENST00000489903.1_Intron|RCAN1_ENST00000399272.1_Intron|RCAN1_ENST00000313806.4_Intron|RCAN1_ENST00000481448.1_5'UTR	NM_203418.1	NP_981963.1	P53805	RCAN1_HUMAN	regulator of calcineurin 1	78					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.F23F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						CACTTTCGCTGAAGATATCAC	0.383000													10	24					0	0	0.093190	0	0
PNLDC1	154197	broad.mit.edu	37	6	160239658	160239658	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr6:160239658A>C	ENST00000275275.5	+	16	1367	c.1196A>C	c.(1195-1197)aAc>aCc	p.N399T	PNLDC1_ENST00000392167.3_Missense_Mutation_p.N410T	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	399						integral to membrane|nucleus	nucleic acid binding	p.N399T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AACCAAGTGAACCTCATCCGA	0.572000													7	34					0	0	0.069234	0	0
OR2W3	343171	broad.mit.edu	37	1	248059023	248059023	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:248059023C>G	ENST00000537741.1	+	3	392	c.135C>G	c.(133-135)atC>atG	p.I45M	OR2W3_ENST00000360358.3_Missense_Mutation_p.I45M			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I45M(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACACCACCATCATCCTGGTGT	0.582000													7	124					0	0	0.038147	0	0
PTH1R	5745	broad.mit.edu	37	3	46937261	46937261	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr3:46937261C>A	ENST00000313049.5	+	3	418	c.215C>A	c.(214-216)gCg>gAg	p.A72E	PTH1R_ENST00000490109.1_3'UTR|PTH1R_ENST00000449590.1_Missense_Mutation_p.A72E|PTH1R_ENST00000430002.2_Missense_Mutation_p.A72E|PTH1R_ENST00000418619.1_Missense_Mutation_p.A72E			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	72						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	p.A72E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TGGACATCTGCGTCCACATCA	0.552000											OREG0015543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	31					0.00307968	0.00323496	0.038147	1	0
ACACA	31	broad.mit.edu	37	17	35512644	35512644	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr17:35512644G>C	ENST00000353139.5	-	43	5889	c.5408C>G	c.(5407-5409)tCt>tGt	p.S1803C	ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.S1708C|ACACA_ENST00000335166.5_Missense_Mutation_p.S1688C|ACACA_ENST00000394406.2_Missense_Mutation_p.S1766C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1766	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.S1708C(1)|p.S1803C(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACAATGGACAGAGTTGAGAGC	0.353000													22	94					0	0	0.099896	0	0
C10orf90	118611	broad.mit.edu	37	10	128193152	128193152	+	Missense_Mutation	SNP	C	C	T	rs148312578		TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr10:128193152C>T	ENST00000284694.7	-	3	737	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	C10orf90_ENST00000544758.1_Missense_Mutation_p.R303Q|C10orf90_ENST00000392694.1_Missense_Mutation_p.R159Q|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.R159Q|C10orf90_ENST00000454341.1_Missense_Mutation_p.R206Q	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	206								p.R206Q(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AACCTTCAGCCGCACCACGGA	0.592000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	76					0	0	0.080935	0	0
MOCOS	55034	broad.mit.edu	37	18	33779985	33779985	+	Silent	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr18:33779985G>A	ENST00000261326.5	+	4	660	c.639G>A	c.(637-639)ctG>ctA	p.L213L		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	213					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.L213L(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GATACCCCCTGTCCTGGATAG	0.577000													13	40					0	0	0.119110	0	0
TSNAX	7257	broad.mit.edu	37	1	231700631	231700631	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:231700631C>G	ENST00000366639.4	+	6	1011	c.853C>G	c.(853-855)Caa>Gaa	p.Q285E	TRAX_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	285					cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding	p.Q285E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				AATGATAGATCAAGAAGAGGG	0.333000													6	41					0	0	0.029380	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		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)			12	25					0	0	0.093190	0	0
CHD5	26038	broad.mit.edu	37	1	6203888	6203888	+	Missense_Mutation	SNP	C	C	A	rs139532134		TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:6203888C>A	ENST00000262450.3	-	13	2137	c.2038G>T	c.(2038-2040)Gtg>Ttg	p.V680L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	680					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.V680L(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCACGTCCACAATGGGCGTG	0.617000													5	39					8.12818e-05	8.83498e-05	0.029380	1	0
NRD1	4898	broad.mit.edu	37	1	52283748	52283748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:52283748G>A	ENST00000354831.7	-	12	1744	c.1555C>T	c.(1555-1557)Caa>Taa	p.Q519*	NRD1_ENST00000544028.1_Nonsense_Mutation_p.Q319*|NRD1_ENST00000352171.7_Nonsense_Mutation_p.Q451*|NRD1_ENST00000539524.1_Nonsense_Mutation_p.Q387*|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	450					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	p.Q519*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CTGTAATGTTGCTGTTGAGGA	0.348000													3	22					0	0	0.009096	0	0
XIRP2	129446	broad.mit.edu	37	2	168106620	168106620	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr2:168106620G>C	ENST00000409195.1	+	9	8807	c.8718G>C	c.(8716-8718)gaG>gaC	p.E2906D	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2684D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2906D|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2731					actin cytoskeleton organization	cell junction	actin binding	p.E2906D(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCATACAAGAGAAACAAGTCT	0.378000													12	77					0	0	0.080935	0	0
MBD6	114785	broad.mit.edu	37	12	57919411	57919411	+	Silent	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:57919411C>T	ENST00000355673.3	+	6	1016	c.660C>T	c.(658-660)atC>atT	p.I220I	MBD6_ENST00000431731.2_Silent_p.I220I	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	220	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding	p.I220I(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CACCTGCTATCAGCCTCAATG	0.647000													6	162					0	0	0.029380	0	0
DOK1	1796	broad.mit.edu	37	2	74784050	74784050	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr2:74784050C>T	ENST00000233668.5	+	5	1924	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.P280S|DOK1_ENST00000480318.1_3'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	419	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding	p.P419S(1)		endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GAGCACAAAGCCCCTCCTTGC	0.612000													21	129					0	0	0.069288	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686195	108686195	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:108686195T>G	ENST00000312143.7	-	3	908	c.545A>C	c.(544-546)aAc>aCc	p.N182T	CMKLR1_ENST00000412676.1_Missense_Mutation_p.N182T|CMKLR1_ENST00000550402.1_Missense_Mutation_p.N182T|CMKLR1_ENST00000552995.1_Missense_Mutation_p.N180T|CMKLR1_ENST00000397688.2_Missense_Mutation_p.N180T	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	182					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.N180T(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CCCATGCAGGTTGGCTGTGTC	0.562000													5	29					0	0	0.029380	0	0
IFFO1	25900	broad.mit.edu	37	12	6664536	6664536	+	Silent	SNP	C	C	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:6664536C>A	ENST00000336604.4	-	1	701	c.660G>T	c.(658-660)tcG>tcT	p.S220S	IFFO1_ENST00000396840.2_Silent_p.S220S|IFFO1_ENST00000356896.4_Silent_p.S220S	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	220						intermediate filament		p.S220S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GGTGCACCCACGACAAGCCAG	0.692000													3	49					0.115264	0.116194	0.115264	1	0
COL5A2	1290	broad.mit.edu	37	2	189950490	189950490	+	Silent	SNP	T	T	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr2:189950490T>C	ENST00000374866.3	-	10	973	c.699A>G	c.(697-699)gcA>gcG	p.A233A		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	233					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.A233A(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTGTAGGTCCTGCACCACCCT	0.393000													10	47					0	0	0.058154	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220464	146220464	+	RNA	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr8:146220464G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						TGACCAGTCTGGGGGCACTGG	0.478000													5	26					0	0	0.014758	0	0
KIAA0020	9933	broad.mit.edu	37	9	2811463	2811463	+	Silent	SNP	C	C	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr9:2811463C>A	ENST00000397885.2	-	15	1739	c.1533G>T	c.(1531-1533)gtG>gtT	p.V511V		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	511						endoplasmic reticulum|nucleolus	RNA binding	p.V511V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GAATGTCAGACACCAACACAC	0.537000													15	87					4.75885e-15	5.6653e-15	0.033300	1	0
DSN1	79980	broad.mit.edu	37	20	35384135	35384135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr20:35384135G>A	ENST00000426836.1	-	9	1195	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373745.3_Nonsense_Mutation_p.Q275*|DSN1_ENST00000373750.4_Nonsense_Mutation_p.Q275*|DSN1_ENST00000448110.1_Nonsense_Mutation_p.Q259*|DSN1_ENST00000373734.4_Nonsense_Mutation_p.Q168*|DSN1_ENST00000373740.3_Nonsense_Mutation_p.Q203*	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	275					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	p.Q275*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				AATATTTTCTGGTAGTCAGGT	0.398000													12	45					0	0	0.080935	0	0
PCLO	27445	broad.mit.edu	37	7	82451802	82451802	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr7:82451802G>A	ENST00000423517.2	-	20	15137	c.14800C>T	c.(14800-14802)Cgc>Tgc	p.R4934C	PCLO_ENST00000333891.8_Intron|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4796	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.?(4)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTATTTGCGTCTTTTACTT	0.488000													20	89					0	0	0.049695	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675629	54675629	+	Silent	SNP	A	A	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:54675629A>G	ENST00000546500.1	+	3	798	c.183A>G	c.(181-183)acA>acG	p.T61T	HNRNPA1_ENST00000547276.1_Silent_p.T61T|HNRNPA1_ENST00000340913.6_Silent_p.T61T|HNRNPA1_ENST00000330752.8_Silent_p.T61T|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	61	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	p.T61T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GGTTTGTCACATATGCCACTG	0.473000													5	36					0	0	0.021553	0	0
BUB1B	701	broad.mit.edu	37	15	40500858	40500858	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr15:40500858G>A	ENST00000287598.6	+	16	2225	c.2030G>A	c.(2029-2031)cGt>cAt	p.R677H	BUB1B_ENST00000412359.3_Missense_Mutation_p.R691H	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	677					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.R677H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GAAGACAGTCGTGAAGCCACA	0.343000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				5	34					0	0	0.029380	0	0
FCER1A	2205	broad.mit.edu	37	1	159273855	159273855	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:159273855G>C	ENST00000368115.1	+	4	313	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q	FCER1A_ENST00000368114.1_Missense_Mutation_p.E39Q	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	72	Ig-like 1.					integral to plasma membrane		p.E72Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CAGCCTTTCAGAAGAGACAAA	0.363000													12	57					0	0	0.080935	0	0
MYO1C	4641	broad.mit.edu	37	17	1370595	1370595	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr17:1370595C>T	ENST00000359786.5	-	31	3430	c.3106G>A	c.(3106-3108)Gac>Aac	p.D1036N	MYO1C_ENST00000575158.1_Missense_Mutation_p.D1001N|MYO1C_ENST00000361007.2_Missense_Mutation_p.D1001N|MYO1C_ENST00000438665.2_Missense_Mutation_p.D1017N|MYO1C_ENST00000545534.2_Missense_Mutation_p.D1012N	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	1036					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.D1001N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTGTGAAGTCAATGGTGCCA	0.632000													4	12					0	0	0.014758	0	0
ADORA1	134	broad.mit.edu	37	1	203134816	203134816	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:203134816A>C	ENST00000367236.4	+	3	1690	c.769A>C	c.(769-771)Acc>Ccc	p.T257P	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.T257P|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.T257P	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	257					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CAACTGCATCACCCTCTTCTG	0.557000													6	62					0	0	0.099896	0	0
ARAP1	116985	broad.mit.edu	37	11	72412759	72412759	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr11:72412759T>G	ENST00000359373.5	-	16	3088	c.2237A>C	c.(2236-2238)cAc>cCc	p.H746P	ARAP1_ENST00000393609.3_Missense_Mutation_p.H746P|ARAP1_ENST00000426523.1_Missense_Mutation_p.H501P|ARAP1_ENST00000429686.1_Missense_Mutation_p.H440P|ARAP1_ENST00000393605.3_Missense_Mutation_p.H506P|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Missense_Mutation_p.H746P|ARAP1_ENST00000334211.8_Missense_Mutation_p.H501P			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	746	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	p.H506P(1)|p.H746P(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GAAGCCACTGTGGCTCACGGT	0.617000													37	159					0	0	0.111260	0	0
LRRC8B	23507	broad.mit.edu	37	1	90058463	90058463	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:90058463A>G	ENST00000330947.2	+	6	2633	c.2273A>G	c.(2272-2274)aAt>aGt	p.N758S	LRRC8B_ENST00000439853.1_Missense_Mutation_p.N758S|LRRC8B_ENST00000358200.4_Missense_Mutation_p.N758S|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	758						integral to membrane		p.N758S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CTCATTGGTAATTACCTGGAA	0.433000													25	94					0	0	0.083992	0	0
AKR1E2	83592	broad.mit.edu	37	10	4877971	4877971	+	Silent	SNP	C	C	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr10:4877971C>G	ENST00000298375.7	+	4	500	c.429C>G	c.(427-429)ccC>ccG	p.P143P	AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000334019.4_Silent_p.P143P|AKR1E2_ENST00000532248.1_Silent_p.P143P|AKR1E2_ENST00000345253.5_Silent_p.P143P	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	143						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.P143P(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGGTTATTCCCAGTGACACGG	0.567000													7	41					0	0	0.038147	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686166	108686166	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:108686166T>C	ENST00000312143.7	-	3	937	c.574A>G	c.(574-576)Aac>Gac	p.N192D	CMKLR1_ENST00000412676.1_Missense_Mutation_p.N192D|CMKLR1_ENST00000550402.1_Missense_Mutation_p.N192D|CMKLR1_ENST00000552995.1_Missense_Mutation_p.N190D|CMKLR1_ENST00000397688.2_Missense_Mutation_p.N190D	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	192					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.N190D(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AGGCTGAAGTTGTTGAAGCAG	0.567000													6	33					0	0	0.058154	0	0
ATP10B	23120	broad.mit.edu	37	5	160114890	160114890	+	Silent	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr5:160114890C>T	ENST00000327245.5	-	5	1038	c.192G>A	c.(190-192)agG>agA	p.R64R	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	64					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R64R(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGTATCTCCTGGAGACCT	0.498000													27	127					0	0	0.116897	0	0
RAD54B	25788	broad.mit.edu	37	8	95416341	95416341	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr8:95416341C>T	ENST00000336148.5	-	6	1032	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.G303E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GAATATGATTCCTTCTTTCTG	0.328000								Direct reversal of damage;Homologous recombination					11	31					0	0	0.080935	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136625	40136625	+	Silent	SNP	G	G	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr11:40136625G>T	ENST00000278198.2	-	2	3181	c.1218C>A	c.(1216-1218)ctC>ctA	p.L406L	LRRC4C_ENST00000527150.1_Silent_p.L406L|LRRC4C_ENST00000528697.1_Silent_p.L406L|LRRC4C_ENST00000530763.1_Silent_p.L406L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	406	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding	p.L406L(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TACCATCACTGAGCACAGCTA	0.448000													23	111					1.1804e-14	1.39198e-14	0.091800	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102500313	102500313	+	Splice_Site	SNP	G	G	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr14:102500313G>C	ENST00000360184.4	+	55	10578	c.10413_splice	c.e55-1	p.V3472_splice	DYNC1H1_ENST00000556791.1_3'UTR	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3472	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.V3472L(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCCTTTTAGGTAAACCGGAG	0.453000													15	58					0	0	0.132662	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167508	140167508	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr5:140167508C>G	ENST00000504120.2	+	1	1633	c.1633C>G	c.(1633-1635)Ctg>Gtg	p.L545V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.L545V|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1												p.L545V(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCCGCCTCTGGGCAGCAA	0.682000													4	100					0	0	0.009096	0	0
SH2D3C	10044	broad.mit.edu	37	9	130536699	130536699	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr9:130536699A>G	ENST00000314830.8	-	2	198	c.85T>C	c.(85-87)Tcc>Ccc	p.S29P		NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	29					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.S29P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGAGTGAAGGACCGAGGGAGG	0.512000													3	28					0	0	0.115264	0	0
DENND2C	163259	broad.mit.edu	37	1	115168247	115168247	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:115168247C>G	ENST00000393274.1	-	4	984	c.359G>C	c.(358-360)cGg>cCg	p.R120P	DENND2C_ENST00000393276.3_Missense_Mutation_p.R120P|DENND2C_ENST00000393277.1_Missense_Mutation_p.R120P	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	120								p.R120P(1)|p.R120Q(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTTTGACCCGAGAACATAC	0.348000													5	108					0	0	0.014758	0	0
NLRP1	22861	broad.mit.edu	37	17	5436224	5436224	+	Missense_Mutation	SNP	G	G	A	rs149973177		TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr17:5436224G>A	ENST00000345221.3	-	11	3768	c.3214C>T	c.(3214-3216)Cct>Tct	p.P1072S	NLRP1_ENST00000354411.3_Missense_Mutation_p.P1042S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P1042S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P1072S|NLRP1_ENST00000572272.1_Missense_Mutation_p.P1072S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P1076S|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1072					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.P1072S(2)|p.P1076S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTCCCCAAAGGCTTCGTATGC	0.577000													14	37					0	0	0.105934	0	0
RPH3A	22895	broad.mit.edu	37	12	113319638	113319638	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:113319638C>G	ENST00000389385.4	+	15	1810	c.1313C>G	c.(1312-1314)cCg>cGg	p.P438R	RPH3A_ENST00000551052.1_Missense_Mutation_p.P434R|RPH3A_ENST00000548866.1_Missense_Mutation_p.P389R|RPH3A_ENST00000543106.2_Missense_Mutation_p.P438R|RPH3A_ENST00000447659.2_Missense_Mutation_p.P389R|RPH3A_ENST00000415485.3_Missense_Mutation_p.P438R|RPH3A_ENST00000420983.2_Missense_Mutation_p.P438R|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	438	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.P434R(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CACCTCCTGCCGGGAGCCAGC	0.592000													4	85					0	0	0.014758	0	0
RAG1	5896	broad.mit.edu	37	11	36596221	36596221	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr11:36596221C>T	ENST00000299440.5	+	2	1479	c.1367C>T	c.(1366-1368)gCc>gTc	p.A456V		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	456					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.A456V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAGCTGGAGGCCATCATGCAG	0.557000									Familial Hemophagocytic Lymphohistiocytosis				8	46					0	0	0.038147	0	0
OR5A1	219982	broad.mit.edu	37	11	59211414	59211414	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr11:59211414C>T	ENST00000302030.2	+	1	798	c.773C>T	c.(772-774)gCc>gTc	p.A258V		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A258V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTTGGGACAGCCCTTTTCGTG	0.552000													30	156					0	0	0.144211	0	0
RPE	6120	broad.mit.edu	37	2	210882212	210882212	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr2:210882212A>G	ENST00000359429.6	+	5	590	c.493A>G	c.(493-495)Acc>Gcc	p.T165A	RPE_ENST00000454822.1_Missense_Mutation_p.T115A|RPE_ENST00000452025.1_Missense_Mutation_p.T165A|RPE_ENST00000445268.1_Missense_Mutation_p.T97A|RPE_ENST00000438204.2_Missense_Mutation_p.T97A|RPE_ENST00000435437.2_Missense_Mutation_p.T165A|RPE_ENST00000429907.1_Missense_Mutation_p.T97A|RPE_ENST00000429921.1_Missense_Mutation_p.T115A|RPE_ENST00000411934.2_Missense_Mutation_p.T97A|RPE_ENST00000354506.6_Missense_Mutation_p.T157A|RPE_ENST00000436630.2_Missense_Mutation_p.T115A|RPE_ENST00000540255.1_Intron	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	165					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	p.T115A(1)|p.T165A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		CTGGTTGAGGACCCAGTTCCC	0.448000													4	57					0	0	0.009096	0	0
MIR146A	406938	broad.mit.edu	37	5	159912401	159912401	+	RNA	SNP	G	G	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr5:159912401G>T	ENST00000385201.1	+	0	43					NR_029701.1																						TCCATGGGTTGTGTCAGTGTC	0.493000													3	23					0.004672	0.00486667	0.115264	1	0
CTNNA1	1495	broad.mit.edu	37	5	138269764	138269764	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr5:138269764A>G	ENST00000302763.7	+	18	2797	c.2707A>G	c.(2707-2709)Atg>Gtg	p.M903V	CTNNA1_ENST00000540387.1_Missense_Mutation_p.M533V|CTNNA1_ENST00000518825.1_3'UTR|CTNNA1_ENST00000355078.5_Missense_Mutation_p.M800V	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	903					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	p.M903V(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTCAAAGCTATGGACAGCAT	0.527000													6	30					0	0	0.021553	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713769	142713769	+	RNA	SNP	T	T	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:142713769T>C	ENST00000369381.2	-	0	836																											ATTTTCTTTTTCCACATTGTC	0.289000													5	41					0	0	0.014758	0	0
PHKA2	5256	broad.mit.edu	37	X	18927024	18927024	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chrX:18927024C>T	ENST00000379942.4	-	21	2920	c.2255G>A	c.(2254-2256)aGa>aAa	p.R752K		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	752					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R752K(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ATGGTCATCTCTGGGCCACTG	0.468000													26	68					0	0	0.099896	0	0
NPY5R	4889	broad.mit.edu	37	4	164272190	164272190	+	Silent	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr4:164272190C>T	ENST00000515560.1	+	4	2287	c.765C>T	c.(763-765)atC>atT	p.I255I	NPY5R_ENST00000338566.3_Silent_p.I255I|NPY5R_ENST00000506953.1_Silent_p.I255I			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	255					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.I255I(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATGAGATGATCAACTTAACTC	0.383000													3	62					0	0	0.115264	0	0
MYOT	9499	broad.mit.edu	37	5	137206504	137206504	+	Missense_Mutation	SNP	C	C	T	rs121908457		TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr5:137206504C>T	ENST00000239926.4	+	2	538	c.164C>T	c.(163-165)tCc>tTc	p.S55F	MYOT_ENST00000509812.1_Intron|MYOT_ENST00000421631.2_Intron|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Intron	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	55			S -> F (in LGMD1A and MFM3).		muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle	p.S55F(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTTCTGCCTCCTCAACACTG	0.542000													17	66					0	0	0.038395	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76556003	76556003	+	Silent	SNP	C	C	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr16:76556003C>A	ENST00000307431.8	+	18	2986	c.2601C>A	c.(2599-2601)ccC>ccA	p.P867P	CNTNAP4_ENST00000476707.1_Silent_p.P871P|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.P795P|CNTNAP4_ENST00000377504.4_Silent_p.P819P	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	868	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P795P(2)|p.P867P(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGCAGTCACCCACCCACTTCA	0.478000													8	108					0.0381472	0.0387675	0.038147	1	0
MMP2	4313	broad.mit.edu	37	16	55522477	55522477	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr16:55522477C>G	ENST00000219070.4	+	6	1364	c.855C>G	c.(853-855)aaC>aaG	p.N285K	MMP2_ENST00000437642.2_Missense_Mutation_p.N235K|MMP2_ENST00000543485.1_Missense_Mutation_p.N209K|MMP2_ENST00000570308.1_Missense_Mutation_p.N209K	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	285	Collagen-binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.N285K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGGGCGGCAACGCTGAAGGAC	0.622000													3	16					0	0	0.009096	0	0
POLK	51426	broad.mit.edu	37	5	74892989	74892989	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr5:74892989G>T	ENST00000241436.4	+	13	2643	c.2471G>T	c.(2470-2472)aGc>aTc	p.S824I	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.S734I|POLK_ENST00000352007.5_Missense_Mutation_p.S626I|POLK_ENST00000508526.1_Missense_Mutation_p.S626I	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	824					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.S824I(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCCAAAGAAAGCTCCAGAAGT	0.294000								DNA polymerases (catalytic subunits)					16	76					1.02788e-11	1.18968e-11	0.033300	1	0
LSM11	134353	broad.mit.edu	37	5	157181030	157181030	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr5:157181030G>A	ENST00000286307.5	+	3	663	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	203	SM 1.				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	p.E203K(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGATGTGGATGAGACCTACCG	0.408000													14	40					0	0	0.132662	0	0
HMGCS2	3158	broad.mit.edu	37	1	120300051	120300051	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:120300051A>T	ENST00000369406.3	-	5	910	c.861T>A	c.(859-861)gaT>gaA	p.D287E	HMGCS2_ENST00000544913.2_Missense_Mutation_p.D245E|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	287					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.D287E(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGAAGGGTCGATCGCTGCCAG	0.507000													7	22					0	0	0.029380	0	0
ITSN1	6453	broad.mit.edu	37	21	35190760	35190760	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr21:35190760A>G	ENST00000381318.3	+	23	3205	c.2917A>G	c.(2917-2919)Ata>Gta	p.I973V	ITSN1_ENST00000381285.4_Missense_Mutation_p.I973V|ITSN1_ENST00000381291.4_Missense_Mutation_p.I973V|ITSN1_ENST00000379960.5_Intron|ITSN1_ENST00000399326.3_Missense_Mutation_p.I968V|ITSN1_ENST00000437442.2_Missense_Mutation_p.I968V|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.I968V|ITSN1_ENST00000399353.1_Missense_Mutation_p.I931V|ITSN1_ENST00000399355.2_Missense_Mutation_p.I973V|ITSN1_ENST00000399367.3_Missense_Mutation_p.I968V|ITSN1_ENST00000399352.1_Missense_Mutation_p.I968V	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	973					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.I973V(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTCAGGGCCCATAAGGAAGTC	0.403000													20	100					0	0	0.062417	0	0
SND1	27044	broad.mit.edu	37	7	127724820	127724820	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr7:127724820G>T	ENST00000354725.3	+	19	2349	c.2155G>T	c.(2155-2157)Gcc>Tcc	p.A719S		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	719					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	p.A719S(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAATGACATTGCCAGTCACCC	0.562000													6	37					0.00116845	0.00124834	0.021553	1	0
LMO4	8543	broad.mit.edu	37	1	87805268	87805268	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:87805268G>C	ENST00000370544.5	+	3	1066	c.286G>C	c.(286-288)Gcg>Ccg	p.A96P	LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Missense_Mutation_p.A96P	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	96	LIM zinc-binding 2.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.A96P(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GTCGATTCCTGCGAGTGAACT	0.398000													7	34					0	0	0.038147	0	0
NAV3	89795	broad.mit.edu	37	12	78516195	78516195	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:78516195A>T	ENST00000397909.2	+	16	4398	c.4225A>T	c.(4225-4227)Act>Tct	p.T1409S	NAV3_ENST00000228327.6_Missense_Mutation_p.T1409S|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.T1409S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1409	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1409C(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTGAGATCTACTCTCTCAGA	0.527000										HNSCC(70;0.22)			18	45					0	0	0.038395	0	0
DMD	1756	broad.mit.edu	37	X	32361373	32361373	+	Silent	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chrX:32361373G>A	ENST00000357033.4	-	40	5823	c.5617C>T	c.(5617-5619)Cta>Tta	p.L1873L	DMD_ENST00000378677.2_Silent_p.L1869L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1873	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.L1873L(1)|p.L532L(1)|p.L1869L(1)|p.L1868L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAAATTTCTAGAGCCTTTTTT	0.378000													17	35					0	0	0.043863	0	0
SLC35G1	159371	broad.mit.edu	37	10	95660511	95660511	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr10:95660511C>T	ENST00000371408.3	+	3	420	c.359C>T	c.(358-360)aCt>aTt	p.T120I	SLC35G1_ENST00000427197.1_Missense_Mutation_p.T121I			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	121	DUF6 1.					integral to membrane		p.T120I(1)									ATTTACAGAACTGGGTTTATA	0.294000													7	52					0	0	0.029380	0	0
TSNAX	7257	broad.mit.edu	37	1	231700636	231700636	+	Silent	SNP	A	A	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:231700636A>G	ENST00000366639.4	+	6	1016	c.858A>G	c.(856-858)gaA>gaG	p.E286E	TRAX_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	286					cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding	p.E286E(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TAGATCAAGAAGAGGGCATTT	0.328000													5	37					0	0	0.021553	0	0
APOB	338	broad.mit.edu	37	2	21236089	21236089	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr2:21236089C>G	ENST00000233242.1	-	25	4286	c.4159G>C	c.(4159-4161)Gct>Cct	p.A1387P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1387					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A1387P(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGTAACGAGCCCGAAGGCTG	0.532000													28	100					0	0	0.045705	0	0
ANO10	55129	broad.mit.edu	37	3	43596810	43596810	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr3:43596810C>T	ENST00000292246.3	-	10	1798	c.1628G>A	c.(1627-1629)cGt>cAt	p.R543H	ANO10_ENST00000350459.4_Missense_Mutation_p.R353H|ANO10_ENST00000414522.2_Missense_Mutation_p.R543H|ANO10_ENST00000451430.2_Missense_Mutation_p.R432H|ANO10_ENST00000396091.3_Missense_Mutation_p.R477H	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	543					cell death	chloride channel complex	chloride channel activity	p.R543H(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TGAGAATGGACGTTTGAAGAC	0.363000													14	53					0	0	0.132662	0	0
WNT4	54361	broad.mit.edu	37	1	22447964	22447964	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:22447964C>T	ENST00000290167.6	-	3	462	c.419G>A	c.(418-420)aGg>aAg	p.R140K	WNT4_ENST00000542383.1_Missense_Mutation_p.R85K	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	140					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	p.R140K(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ATGCACTGTCCTGTCACAGCC	0.667000													13	74					0	0	0.043863	0	0
OR4N4	283694	broad.mit.edu	37	15	22382659	22382659	+	Silent	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr15:22382659C>T	ENST00000328795.4	+	1	278	c.187C>T	c.(187-189)Ctg>Ttg	p.L63L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTATTTATTTCTGGGCAACTT	0.463000													27	268					0	0	0.080422	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686229	108686229	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:108686229T>G	ENST00000312143.7	-	3	874	c.511A>C	c.(511-513)Agt>Cgt	p.S171R	CMKLR1_ENST00000412676.1_Missense_Mutation_p.S171R|CMKLR1_ENST00000550402.1_Missense_Mutation_p.S171R|CMKLR1_ENST00000552995.1_Missense_Mutation_p.S169R|CMKLR1_ENST00000397688.2_Missense_Mutation_p.S169R	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	171					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.S169R(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GATGGGGAACTCAAGAAGAAA	0.572000													4	37					0	0	0.021553	0	0
TTC37	9652	broad.mit.edu	37	5	94878980	94878980	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr5:94878980C>A	ENST00000358746.2	-	5	440	c.142G>T	c.(142-144)Gtt>Ttt	p.V48F		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	48							binding	p.V48F(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GCTGCAGCAACGCCAATAAAA	0.373000													16	99					1.3612e-06	1.5192e-06	0.132662	1	0
TRIB1	10221	broad.mit.edu	37	8	126448609	126448609	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr8:126448609G>T	ENST00000311922.3	+	3	1597	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	TRIB1_ENST00000520847.1_Nonsense_Mutation_p.E173*|TRIB1_ENST00000519576.1_Nonsense_Mutation_p.E108*	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	339					JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.E339*(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CCCCTGGTTTGAGTCCGTCTT	0.547000													11	87					1.08611e-07	1.22309e-07	0.080935	1	0
DSC1	1823	broad.mit.edu	37	18	28728565	28728565	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr18:28728565T>A	ENST00000257197.3	-	6	929	c.668A>T	c.(667-669)gAa>gTa	p.E223V	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E223V	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	223	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.E223V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAGTGGATATTCTGGTGCATA	0.368000													16	79					0	0	0.146539	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34825625	34825625	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr6:34825625C>G	ENST00000192788.5	+	13	1869	c.1698C>G	c.(1696-1698)atC>atG	p.I566M	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.I566M	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	566								p.I566M(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCAAAGCTATCTACAAGCTGG	0.443000													7	104					0	0	0.029380	0	0
GPR112	139378	broad.mit.edu	37	X	135487991	135487991	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chrX:135487991G>A	ENST00000394143.1	+	23	9086	c.8795G>A	c.(8794-8796)cGg>cAg	p.R2932Q	GPR112_ENST00000287534.4_Missense_Mutation_p.R2685Q|GPR112_ENST00000394141.1_Missense_Mutation_p.R2727Q|GPR112_ENST00000370652.1_Missense_Mutation_p.R2932Q|GPR112_ENST00000412101.1_Missense_Mutation_p.R2727Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2932					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2932Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAGACTCGGCGGAAGATGATC	0.458000													14	47					0	0	0.105934	0	0
HAUS3	79441	broad.mit.edu	37	4	2242226	2242226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr4:2242226G>A	ENST00000243706.4	-	2	677	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Nonsense_Mutation_p.Q150*|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Nonsense_Mutation_p.Q150*	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	150					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.Q150*(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCTTGACTCTGCTTCAGCTTT	0.363000													18	72					0	0	0.033300	0	0
ENAM	10117	broad.mit.edu	37	4	71508556	71508556	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr4:71508556T>A	ENST00000396073.3	+	9	1694	c.1413T>A	c.(1411-1413)taT>taA	p.Y471*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	471					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.Y471*(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCAAATTATAAACTGCCTC	0.388000													8	33					0	0	0.047766	0	0
NAV3	89795	broad.mit.edu	37	12	78516196	78516196	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:78516196C>G	ENST00000397909.2	+	16	4399	c.4226C>G	c.(4225-4227)aCt>aGt	p.T1409S	NAV3_ENST00000228327.6_Missense_Mutation_p.T1409S|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.T1409S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1409	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1409C(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTGAGATCTACTCTCTCAGAA	0.522000										HNSCC(70;0.22)			15	45					0	0	0.033300	0	0
KRT1	3848	broad.mit.edu	37	12	53074043	53074043	+	Silent	SNP	C	C	T			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:53074043C>T	ENST00000252244.3	-	1	148	c.90G>A	c.(88-90)agG>agA	p.R30R		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	30	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.R30R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TGCTGGTGGTCCTGCGCTGGT	0.562000													6	38					0	0	0.029380	0	0
OR4D1	26689	broad.mit.edu	37	17	56233005	56233005	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr17:56233005T>A	ENST00000268912.5	+	1	512	c.491T>A	c.(490-492)cTt>cAt	p.L164H		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L164H(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						GCTCTGATACTTCCACTGCCC	0.527000													13	75					0	0	0.146539	0	0
AADACL3	126767	broad.mit.edu	37	1	12785267	12785267	+	Silent	SNP	C	C	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:12785267C>A	ENST00000332530.3	+	3	373	c.147C>A	c.(145-147)tcC>tcA	p.S49S	AADACL3_ENST00000359318.5_Silent_p.S119S	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	119							hydrolase activity	p.S119S(1)|p.S49S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGAAGTCCCTGGATGCAT	0.512000													15	78					1.05317e-09	1.20776e-09	0.119110	1	0
PDZD7	79955	broad.mit.edu	37	10	102782064	102782064	+	Silent	SNP	G	G	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr10:102782064G>A	ENST00000370215.3	-	5	846	c.621C>T	c.(619-621)gtC>gtT	p.V207V		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	207						cilium|nucleus	protein binding	p.V207V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGATGCGCCGGACACCATCTT	0.592000													4	32					0	0	0.014758	0	0
UBXN11	91544	broad.mit.edu	37	1	26608843	26608844	+	In_Frame_Ins	INS	-	-	GGGACA	rs6667693	by1000genomes	TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr1:26608843_26608844insGGGACA	ENST00000314675.7	-	11	1228_1229	c.1149_1150insTGTCCC	c.(1147-1152)ccgtcc>ccTGTCCCgtcc	p.382_383insPV	UBXN11_ENST00000357089.4_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374217.2_In_Frame_Ins_p.469_470insPV|UBXN11_ENST00000374222.1_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374221.3_In_Frame_Ins_p.502_503insPV|UBXN11_ENST00000374223.1_In_Frame_Ins_p.259_260insPV	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	502						cytoplasm|cytoskeleton		p.P503_G504insCP(1)|p.G490_P515delGPGPSPGPGPGPSPGPGPGPSPCPGP(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						ggaccgggaccgggactggggc	0.733													28	50	---	---	---	---					
NIFK-AS1	254128	broad.mit.edu	37	2	122466739	122466740	+	RNA	INS	-	-	T	rs6733674	by1000genomes	TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr2:122466739_122466740insT	ENST00000419902.1	+	0	637					NR_037857.1																						tttttttgttgttttttttttg	0.460													3	3	---	---	---	---					
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	RNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs148912092	by1000genomes	TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.440													47	174	---	---	---	---					
CTDSP1	58190	broad.mit.edu	37	2	219266341	219266342	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr2:219266341_219266342insA	ENST00000273062.2	+	2	458_459	c.122_123insA	c.(121-123)tctfs	p.S41fs	CTDSP1_ENST00000443891.1_Frame_Shift_Ins_p.S41fs|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	41					protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCCTCCACTCACTCTTCTGCT	0.639													10	69	---	---	---	---					
CCDC132	55610	broad.mit.edu	37	7	92923947	92923948	+	Splice_Site	INS	-	-	G	rs140810598	by1000genomes	TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr7:92923947_92923948insG	ENST00000544910.1	+	15	1296_1297	c.1077_splice	c.e15+1	p.R359_splice	CCDC132_ENST00000535481.1_Splice_Site_p.R109_splice|CCDC132_ENST00000541136.1_Splice_Site_p.R200_splice|CCDC132_ENST00000317751.6_Splice_Site_p.R120_splice|CCDC132_ENST00000305866.5_Splice_Site_p.R389_splice	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	389										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CGAATATGGCAGGTTTGGtttt	0.272													8	106	---	---	---	---					
LRRTM3	347731	broad.mit.edu	37	10	68686763	68686763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr10:68686763delC	ENST00000361320.4	+	2	667	c.89delC	c.(88-90)gcfs	p.A30fs	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	30						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTTTCTTCTGCCGAACGAGGA	0.438													7	68	---	---	---	---					
NFE2	4778	broad.mit.edu	37	12	54686563	54686571	+	In_Frame_Del	DEL	CGTAGGAAA	CGTAGGAAA	-			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr12:54686563_54686571delCGTAGGAAA	ENST00000540264.2	-	2	1218_1226	c.709_717delTTTCCTACG	c.(709-717)del	p.FPT237del	NFE2_ENST00000435572.2_In_Frame_Del_p.FPT237del|NFE2_ENST00000312156.4_In_Frame_Del_p.FPT237del|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_In_Frame_Del_p.FPT237del			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	237					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CAATCTTGTCCGTAGGAAAAGGAATCTTC	0.589													7	52	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25438658	25438658	+	RNA	DEL	C	C	-			TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr15:25438658delC	ENST00000424208.1	+	0	1415				SNHG14_ENST00000456576.1_RNA	NR_003305.1																						ATCTGGGAGGCCCAACCCTGT	0.592													11	54	---	---	---	---					
CCDC144B	284047	broad.mit.edu	37	17	18498059	18498060	+	RNA	INS	-	-	A	rs66528329		TCGA-50-5939-01A-11D-1625-08	TCGA-50-5939-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa9108d7-5036-4059-ad82-dc64161d5bc3	aacf37f4-0e46-4277-9122-e11cbefa7158	g.chr17:18498059_18498060insA	ENST00000442583.1	-	0	898_899																				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTAAGTTGTTCATCAGCAACAT	0.406													8	17	---	---	---	---					
