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
CHRM2	1129	broad.mit.edu	37	7	136700135	136700135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:136700135G>T	ENST00000445907.2	+	3	1051	c.523G>T	c.(523-525)Gag>Tag	p.E175*	CHRM2_ENST00000401861.1_Nonsense_Mutation_p.E175*|CHRM2_ENST00000402486.3_Nonsense_Mutation_p.E175*|CHRM2_ENST00000453373.1_Nonsense_Mutation_p.E175*|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Nonsense_Mutation_p.E175*|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Nonsense_Mutation_p.E175*	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	175					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GGAGGATGGGGAGTGCTACAT	0.483000													15	133					1.49906e-05	1.6503e-05	1	1	0
WDR17	116966	broad.mit.edu	37	4	177041116	177041116	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:177041116G>C	ENST00000393643.2	+	4	658	c.406G>C	c.(406-408)Gat>Cat	p.D136H	WDR17_ENST00000280190.4_Missense_Mutation_p.D160H|WDR17_ENST00000507824.2_Missense_Mutation_p.D160H|WDR17_ENST00000508596.1_Missense_Mutation_p.D136H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	160										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTCAGGACCAGATAGTGGAGT	0.463000													21	220					0	0	1	0	0
TMEM39B	55116	broad.mit.edu	37	1	32542859	32542859	+	Missense_Mutation	SNP	G	G	A	rs138878956		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:32542859G>A	ENST00000427288.1	+	6	665	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000336294.5_Missense_Mutation_p.R177Q|TMEM39B_ENST00000456834.2_Intron			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	177						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGTCTGTGCCGATCCCTCATC	0.592000													11	134					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17349547	17349547	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:17349547C>G	ENST00000253692.7	-	14	2739	c.1075G>C	c.(1075-1077)Ggc>Cgc	p.G359R	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.G359R|TBC1D5_ENST00000446818.2_Missense_Mutation_p.G359R|TBC1D5_ENST00000429924.2_Missense_Mutation_p.G311R	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	359	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGGCTGAGGCCGTCTGCAAAC	0.458000													23	63					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49059610	49059610	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:49059610C>A	ENST00000380950.2	-	16	2256	c.2069G>T	c.(2068-2070)cGt>cTt	p.R690L	CEP152_ENST00000399334.3_Missense_Mutation_p.R690L|CEP152_ENST00000325747.5_Missense_Mutation_p.R597L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	690					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TAGGCTTTCACGTATTTGAGT	0.448000													13	90					4.3838e-07	5.08582e-07	1	1	0
NOX4	50507	broad.mit.edu	37	11	89135651	89135651	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:89135651T>A	ENST00000535633.1	-	9	927	c.617A>T	c.(616-618)aAc>aTc	p.N206I	NOX4_ENST00000413594.2_Missense_Mutation_p.N251I|NOX4_ENST00000343727.5_Missense_Mutation_p.N206I|NOX4_ENST00000534731.1_Missense_Mutation_p.N230I|NOX4_ENST00000542487.1_Missense_Mutation_p.N206I|NOX4_ENST00000527956.1_Missense_Mutation_p.N206I|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000263317.4_Missense_Mutation_p.N230I|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.N64I|NOX4_ENST00000532825.1_Missense_Mutation_p.N206I|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000528341.1_Missense_Mutation_p.N205I|NOX4_ENST00000424319.1_Missense_Mutation_p.N206I	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	230	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GCTGGTTCGGTTAAGACTGAT	0.393000													47	120					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706011	30706011	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:30706011C>A	ENST00000256246.2	-	1	597	c.523G>T	c.(523-525)Gag>Tag	p.E175*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	175										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCCTTCTCCTCACTGTGGTTT	0.423000													19	68					3.99206e-14	5.47524e-14	1	1	0
PCDHGA11	56105	broad.mit.edu	37	5	140800956	140800956	+	Silent	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:140800956G>C	ENST00000398587.2	+	1	195	c.162G>C	c.(160-162)ggG>ggC	p.G54G	PCDHGA11_ENST00000518882.1_Silent_p.G54G|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGACCTGGGGCTGGAGCCCC	0.632000													28	77					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169336611	169336611	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:169336611T>A	ENST00000511577.1	-	22	3174	c.2927A>T	c.(2926-2928)gAt>gTt	p.D976V	DDX60L_ENST00000260184.7_Missense_Mutation_p.D976V|DDX60L_ENST00000505890.1_Missense_Mutation_p.D976V			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	976							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATAAACATCATCATGTTTTAC	0.328000													10	32					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922276	13922276	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:13922276C>A	ENST00000265104.4	-	5	704	c.600G>T	c.(598-600)ttG>ttT	p.L200F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	200	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGGGAGCTCAAGAACTCCT	0.547000									Kartagener syndrome				15	85					3.45872e-05	3.7908e-05	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48826496	48826496	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:48826496C>G	ENST00000314191.2	-	24	2802	c.2746G>C	c.(2746-2748)Gaa>Caa	p.E916Q	PRKDC_ENST00000338368.3_Missense_Mutation_p.E916Q|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	916					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V909_L917delVFLPRVTEL(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCGCTAATTCTGTGACTCGA	0.423000								Non-homologous end-joining					40	154					0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329638	8329638	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:8329638C>T	ENST00000359286.4	+	5	451	c.362C>T	c.(361-363)tCg>tTg	p.S121L		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S121L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGTAATGATTCGGGAGAAGAT	0.388000													17	86					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995517	1995517	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:1995517G>T	ENST00000382722.5	-	8	1227	c.865C>A	c.(865-867)Ccc>Acc	p.P289T	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.P289T|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.P225T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P289T|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.P225T|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	289						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ATGTCCTTGGGAGAAGTAGCA	0.512000													7	44					2.0095e-06	2.27989e-06	1	1	0
WDR88	126248	broad.mit.edu	37	19	33635774	33635774	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:33635774C>A	ENST00000361680.2	+	3	490	c.412C>A	c.(412-414)Cgc>Agc	p.R138S	WDR88_ENST00000592765.1_Missense_Mutation_p.R138S|WDR88_ENST00000355868.3_Missense_Mutation_p.R138S			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	138								p.R138C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TTCTGTGGTTCGCGATTTTGA	0.542000													4	31					0.00909568	0.00933471	1	1	0
MYBPC3	4607	broad.mit.edu	37	11	47356684	47356684	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:47356684G>T	ENST00000399249.2	-	26	2868	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A	MYBPC3_ENST00000545968.1_Silent_p.A938A|MYBPC3_ENST00000256993.4_Silent_p.A937A			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	937	Fibronectin type-III 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AAAGCAGCCGGGCCCCCGTGG	0.662000													6	30					0.0293803	0.0298225	1	1	0
RHBDL1	9028	broad.mit.edu	37	16	726880	726880	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:726880C>T	ENST00000219551.2	+	2	632	c.605C>T	c.(604-606)tCg>tTg	p.S202L	RHBDL1_ENST00000352681.3_Missense_Mutation_p.S137L			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	202					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TTCATGGCCTCGGTCACTCTT	0.662000													11	96					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62567946	62567946	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:62567946C>T	ENST00000262435.9	-	10	1173	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	329	WW 3.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			AGCAGACAGCCGAGGATCTGT	0.373000													4	42					0	0	1	0	0
ASAH1	427	broad.mit.edu	37	8	17922036	17922036	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:17922036C>A	ENST00000262097.6	-	6	698	c.387G>T	c.(385-387)gaG>gaT	p.E129D	ASAH1_ENST00000520781.1_Intron|ASAH1_ENST00000314146.10_Missense_Mutation_p.E123D|ASAH1_ENST00000381733.4_Missense_Mutation_p.E145D|ASAH1_ENST00000417108.2_Intron	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	129					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		ATGAAATAATCTCTCCTATGA	0.318000													14	15					9.31168e-06	1.03432e-05	1	1	0
RGPD4	285190	broad.mit.edu	37	2	108496514	108496514	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:108496514T>C	ENST00000408999.3	+	21	5092	c.5015T>C	c.(5014-5016)cTg>cCg	p.L1672P	RGPD4_ENST00000354986.4_Missense_Mutation_p.L1672P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1672					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTAAACGGCCTGCTTCGGGAA	0.458000													84	212					0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1503889	1503889	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:1503889A>T	ENST00000382745.4	-	14	1765	c.1160T>A	c.(1159-1161)gTg>gAg	p.V387E	CLCN7_ENST00000262318.8_Missense_Mutation_p.V363E|CLCN7_ENST00000448525.1_Missense_Mutation_p.V363E	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	387						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TGCTCCAAGCACACCGCCTGC	0.597000													13	59					0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926447	21926447	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:21926447C>G	ENST00000240662.2	-	2	449	c.104G>C	c.(103-105)cGc>cCc	p.R35P		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	35						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GGCGATGAAGCGGGCTTTGGG	0.597000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	84					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25966903	25966903	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:25966903G>T	ENST00000356865.6	-	7	1375	c.1264C>A	c.(1264-1266)Cag>Aag	p.Q422K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	422					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AAAATGTACTGTATCTGTCCT	0.428000													25	126					1.85244e-09	2.29085e-09	1	1	0
ATAD2B	54454	broad.mit.edu	37	2	23980771	23980771	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:23980771C>T	ENST00000238789.5	-	25	3938	c.3595G>A	c.(3595-3597)Gga>Aga	p.G1199R	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1199							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATAAGTCTCCAGTCTCTTCT	0.443000													15	97					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27454929	27454929	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:27454929G>A	ENST00000264705.4	+	17	2644	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	CAD_ENST00000403525.1_Missense_Mutation_p.E765K|CAD_ENST00000464159.1_3'UTR	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	828	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCGCCTGTATGAGCTCACACG	0.542000													19	117					0	0	1	0	0
SMAD2	4087	broad.mit.edu	37	18	45377645	45377645	+	Splice_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr18:45377645C>A	ENST00000402690.2	-	7	1178	c.784_splice	c.e7+1	p.D262_splice	SMAD2_ENST00000262160.6_Splice_Site_p.D262_splice|SMAD2_ENST00000586040.1_Splice_Site_p.D232_splice|SMAD2_ENST00000356825.4_Splice_Site_p.D232_splice|SMAD2_ENST00000591214.1_Splice_Site_p.D232_splice	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	262					anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TGCAACTTACCCAAGCTATGA	0.328000													18	59					1.22574e-08	1.48127e-08	1	1	0
C15orf27	123591	broad.mit.edu	37	15	76467961	76467961	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:76467961G>C	ENST00000388942.3	+	8	990	c.714G>C	c.(712-714)aaG>aaC	p.K238N	RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	238						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGAAGGCCAAGGTCATCCAAG	0.557000													9	58					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215824112	215824112	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:215824112G>T	ENST00000366943.2	-	65	14551	c.14165C>A	c.(14164-14166)cCc>cAc	p.P4722H	USH2A_ENST00000307340.3_Missense_Mutation_p.P4722H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4722	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAGCTACTGGGGGCTTTTCC	0.498000										HNSCC(13;0.011)			55	116					1.39843e-22	2.10901e-22	1	1	0
ABCA2	20	broad.mit.edu	37	9	139903002	139903002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:139903002G>A	ENST00000265662.5	-	48	7288	c.7141C>T	c.(7141-7143)Cag>Tag	p.Q2381*	ABCA2_ENST00000371605.3_Nonsense_Mutation_p.Q2380*|ABCA2_ENST00000341511.6_Nonsense_Mutation_p.Q2381*			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2380					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGAGGGGACTGCAGTGCGGAT	0.672000													3	10					0	0	1	0	0
RAD51C	5889	broad.mit.edu	37	17	56774052	56774052	+	Splice_Site	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:56774052A>G	ENST00000337432.4	+	3	475		c.e3-1		RAD51C_ENST00000583539.1_Splice_Site|RAD51C_ENST00000487921.1_Splice_Site	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C						blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCTGTTGACAGTATGCAGTT	0.368000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				19	138					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5766444	5766444	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:5766444G>A	ENST00000328090.5	+	8	924	c.299G>A	c.(298-300)aGa>aAa	p.R100K	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	100																	CTGTCAAACAGACAAGGGGAA	0.259000													5	56					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34924189	34924189	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr21:34924189G>A	ENST00000356577.4	+	3	3127	c.2652G>A	c.(2650-2652)caG>caA	p.Q884Q	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.Q884Q|SON_ENST00000381679.4_Silent_p.Q884Q|SON_ENST00000300278.4_Silent_p.Q884Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	884	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGGATGCTCAGATGTTAGCGT	0.468000													25	157					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7749913	7749913	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:7749913G>T	ENST00000254846.5	+	8	955	c.566G>T	c.(565-567)gGa>gTa	p.G189V	KDM6B_ENST00000448097.2_Missense_Mutation_p.G189V	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	189					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CGGAACTATGGAGCCAAGCGG	0.627000													40	98					2.77807e-22	4.18119e-22	1	1	0
GLI3	2737	broad.mit.edu	37	7	42005869	42005869	+	Silent	SNP	C	C	A	rs61730503	byFrequency	TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:42005869C>A	ENST00000395925.3	-	15	2886	c.2802G>T	c.(2800-2802)gcG>gcT	p.A934A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	934			A -> P (in ACS; dbSNP:rs28933372).		negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTGTGGCAGCCGCGTACTTGG	0.726000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	29					1.12685e-05	1.24609e-05	1	1	0
SORCS3	22986	broad.mit.edu	37	10	107022218	107022218	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:107022218G>T	ENST00000369701.3	+	26	3800	c.3573G>T	c.(3571-3573)ctG>ctT	p.L1191L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1191						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGAGGAGCTGCTGGACAAAG	0.532000													5	54					0.014758	0.0150212	1	1	0
ABCC1	4363	broad.mit.edu	37	16	16208748	16208748	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:16208748A>T	ENST00000399408.2	+	24	3410	c.3235A>T	c.(3235-3237)Agt>Tgt	p.S1079C	ABCC1_ENST00000399410.3_Missense_Mutation_p.S1069C|ABCC1_ENST00000351154.5_Missense_Mutation_p.S1010C|ABCC1_ENST00000346370.5_Missense_Mutation_p.S1013C|ABCC1_ENST00000349029.5_Missense_Mutation_p.S954C|ABCC1_ENST00000345148.5_Missense_Mutation_p.S1069C			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1069	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCGGACCCCCAGTGGGAACCT	0.597000													4	32					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20787327	20787327	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:20787327G>C	ENST00000289416.5	+	3	861	c.386G>C	c.(385-387)aGg>aCg	p.R129T	ACSM3_ENST00000450120.2_Missense_Mutation_p.R84T|ACSM3_ENST00000440284.2_Missense_Mutation_p.R129T	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	129					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATTCTGCCCAGGGTCCCAGAG	0.448000													24	98					0	0	1	0	0
BRCC3	79184	broad.mit.edu	37	X	154299835	154299835	+	Silent	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:154299835G>C	ENST00000369462.1	+	1	58	c.33G>C	c.(31-33)gcG>gcC	p.A11A	BRCC3_ENST00000399042.1_Silent_p.A11A|BRCC3_ENST00000340647.4_Silent_p.A11A|BRCC3_ENST00000369459.2_Silent_p.A11A|BRCC3_ENST00000330045.7_Silent_p.A11A|MTCP1_ENST00000362018.2_Intron	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	11					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					cggtgcaggcggtTCATCTCG	0.622000													5	19					0	0	1	0	0
NT5C2	22978	broad.mit.edu	37	10	104865495	104865495	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:104865495C>G	ENST00000343289.5	-	5	444	c.357G>C	c.(355-357)ttG>ttC	p.L119F	NT5C2_ENST00000404739.3_Missense_Mutation_p.L119F|NT5C2_ENST00000423468.2_Missense_Mutation_p.L90F|NT5C2_ENST00000369857.4_5'UTR	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	119					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GTGCACAGACCAAGAGGTTTC	0.373000													10	109					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127708333	127708333	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:127708333G>T	ENST00000368679.4	-	22	2909	c.2600C>A	c.(2599-2601)aCt>aAt	p.T867N		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	867					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AGTGAGCCGAGTTGTTCTGGC	0.582000													16	58					1.15088e-07	1.35548e-07	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11129631	11129631	+	Splice_Site	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:11129631A>T	ENST00000358026.2	+	17	2722		c.e17-1		SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000429416.3_Splice_Site|SMARCA4_ENST00000589677.1_Splice_Site|SMARCA4_ENST00000590574.1_Splice_Site|SMARCA4_ENST00000450717.3_Splice_Site|SMARCA4_ENST00000413806.3_Splice_Site|SMARCA4_ENST00000541122.2_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGTTCCATCAGAACGCTGTC	0.552000			"""F, N, Mis"""		NSCLC								36	78					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131862023	131862023	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:131862023G>C	ENST00000286355.5	-	10	4329	c.2237C>G	c.(2236-2238)tCc>tGc	p.S746C	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	746					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.S746F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AATCAGAATGGAGAACTGGAT	0.453000										HNSCC(32;0.087)			13	45					0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46771641	46771641	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:46771641C>A	ENST00000394809.4	-	3	1098	c.983G>T	c.(982-984)gGt>gTt	p.G328V	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	328					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGTTTCTCCACCACTGTGGGT	0.677000													32	71					2.47316e-13	3.27693e-13	1	1	0
C12orf74	338809	broad.mit.edu	37	12	93100824	93100824	+	Silent	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:93100824T>A	ENST00000544406.2	+	2	683	c.417T>A	c.(415-417)ccT>ccA	p.P139P	C12orf74_ENST00000397833.3_Silent_p.P139P			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	139										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGCTTCAGCCTGTCAATGAAG	0.582000													11	83					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963714	88963714	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:88963714A>C	ENST00000333190.4	+	4	2027	c.1418A>C	c.(1417-1419)tAt>tCt	p.Y473S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	473						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGTATCTCTTATGGCTGCAAC	0.433000										HNSCC(36;0.09)			34	81					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30873239	30873239	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr18:30873239A>G	ENST00000383096.3	-	12	1242	c.1060T>C	c.(1060-1062)Tac>Cac	p.Y354H	CCDC178_ENST00000583930.1_Missense_Mutation_p.Y354H|CCDC178_ENST00000406524.2_Missense_Mutation_p.Y354H|CCDC178_ENST00000300227.8_Missense_Mutation_p.Y354H|CCDC178_ENST00000402325.1_Missense_Mutation_p.Y354H|CCDC178_ENST00000579947.1_Missense_Mutation_p.Y354H|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.Y354H					coiled-coil domain containing 178																		GATGAAGAGTAATGATCAAAT	0.269000													8	32					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179247977	179247977	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:179247977G>A	ENST00000190611.4	+	17	2224	c.1848G>A	c.(1846-1848)tcG>tcA	p.S616S	OSBPL6_ENST00000315022.2_Silent_p.S620S|OSBPL6_ENST00000409631.1_Silent_p.S580S|OSBPL6_ENST00000409045.3_Silent_p.S585S|OSBPL6_ENST00000392505.2_Silent_p.S641S|OSBPL6_ENST00000359685.3_Silent_p.S580S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	616					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ACAAGGCTTCGGAAACTGATG	0.502000													16	41					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873745	91873745	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:91873745C>A	ENST00000373094.1	+	7	4695	c.3850C>A	c.(3850-3852)Caa>Aaa	p.Q1284K	PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1276K|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1247K|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1274K|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1266K|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1247K	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1284					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGGTTGGGTGCAAGGTGCTGA	0.507000													105	157					2.31008e-40	3.69414e-40	1	1	0
DBN1	1627	broad.mit.edu	37	5	176885262	176885262	+	Missense_Mutation	SNP	C	C	T	rs142058925		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:176885262C>T	ENST00000292385.5	-	13	2188	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	DBN1_ENST00000393563.4_Missense_Mutation_p.E257K|DBN1_ENST00000512501.1_Missense_Mutation_p.E257K|DBN1_ENST00000309007.5_Missense_Mutation_p.E525K|DBN1_ENST00000393565.1_Missense_Mutation_p.E571K	NM_080881.2	NP_543157.1	Q16643	DREB_HUMAN	drebrin 1	525					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACAGCCTTCGCCTGCTGGC	0.667000													24	43					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91293069	91293069	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:91293069A>G	ENST00000355112.3	+	3	689	c.571A>G	c.(571-573)Aga>Gga	p.R191G	BLM_ENST00000560509.1_Missense_Mutation_p.R191G	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	191					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AAAGGGTAAGAGAAACTTTTT	0.383000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				13	75					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92352670	92352670	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:92352670C>G	ENST00000276609.3	+	8	1156	c.917C>G	c.(916-918)tCt>tGt	p.S306C	SLC26A7_ENST00000309536.2_Missense_Mutation_p.S306C|SLC26A7_ENST00000523719.1_Missense_Mutation_p.S306C	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	306						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AACATCCTCTCTGCGGTGATC	0.438000													20	169					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756953	94756953	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:94756953G>T	ENST00000554723.1	-	2	516	c.98C>A	c.(97-99)tCc>tAc	p.S33Y	SERPINA10_ENST00000554173.1_5'UTR|SERPINA10_ENST00000261994.4_5'UTR|SERPINA10_ENST00000393096.1_5'UTR			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	0					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGAGGCCAAGGAGTGCCTCCC	0.547000													7	16					0.248553	0.249562	1	1	0
USP46	64854	broad.mit.edu	37	4	53468111	53468111	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:53468111G>C	ENST00000441222.2	-	7	1016	c.832C>G	c.(832-834)Ctg>Gtg	p.L278V	USP46_ENST00000451218.2_Missense_Mutation_p.L251V|USP46_ENST00000508499.1_Missense_Mutation_p.L271V	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	278					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CGGAGTTCCAGAGGGAAGACC	0.532000													14	82					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471629	103471629	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:103471629C>A	ENST00000358392.2	-	17	2139	c.1822G>T	c.(1822-1824)Gca>Tca	p.A608S	COL11A1_ENST00000370096.3_Missense_Mutation_p.A596S|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.A480S|COL11A1_ENST00000353414.4_Missense_Mutation_p.A557S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	596	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTGACCTTTGCCCCAGGTTCT	0.398000													20	56					1.00905e-13	1.3613e-13	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177933362	177933362	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:177933362C>T	ENST00000308284.6	-	5	675	c.586G>A	c.(586-588)Gag>Aag	p.E196K	RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.E196K|SEC16B_ENST00000464631.1_Missense_Mutation_p.E196K|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	196	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCCGGCCACTCCTGTCCAGAG	0.567000													5	40					0	0	1	0	0
CPPED1	55313	broad.mit.edu	37	16	12897562	12897562	+	Splice_Site	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:12897562A>T	ENST00000381774.4	-	1	311		c.e1+1		CPPED1_ENST00000433677.2_Splice_Site|CPPED1_ENST00000261660.4_Splice_Site	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1								hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						GGCGGGCAGTACCTGCGGGAA	0.667000													4	10					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115303581	115303581	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:115303581C>A	ENST00000371906.4	+	3	238	c.48C>A	c.(46-48)agC>agA	p.S16R		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	16					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						ACATTACCAGCGGTCTTCACT	0.423000													27	43					1.77063e-15	2.48357e-15	1	1	0
KCNA10	3744	broad.mit.edu	37	1	111061074	111061074	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:111061074C>A	ENST00000369771.2	-	1	723	c.336G>T	c.(334-336)ctG>ctT	p.L112L		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	112						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCCGGTCTCCCAGGAGAGTCT	0.463000													33	92					1.61788e-16	2.29097e-16	1	1	0
FRMPD3	84443	broad.mit.edu	37	X	106843908	106843908	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:106843908C>G	ENST00000276185.4	+	16	2738	c.2738C>G	c.(2737-2739)gCa>gGa	p.A913G				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	913						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GTGCACCCAGCACTGTCCCCA	0.597000													10	7					0	0	1	0	0
LDHB	3945	broad.mit.edu	37	12	21795056	21795056	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:21795056T>C	ENST00000396076.1	-	5	757	c.425A>G	c.(424-426)gAc>gGc	p.D142G	LDHB_ENST00000350669.1_Missense_Mutation_p.D142G	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	142					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	CGTAAGAATGTCCACTAAAAA	0.418000													27	40					0	0	1	0	0
AHSA2	130872	broad.mit.edu	37	2	61412736	61412736	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:61412736A>G	ENST00000394457.2	+	4	1918	c.175A>G	c.(175-177)Atc>Gtc	p.I59V	AHSA2_ENST00000357022.2_Missense_Mutation_p.I59V|AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000410073.1_Missense_Mutation_p.I59V	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	221					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			GCTGTATAGCATCTTCACTGT	0.448000													29	115					0	0	1	0	0
HEXA	3073	broad.mit.edu	37	15	72668122	72668122	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:72668122G>A	ENST00000268097.5	-	1	695	c.192C>T	c.(190-192)gcC>gcT	p.A64A	HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000567159.1_Silent_p.A64A|HEXA_ENST00000457859.2_5'UTR|HEXA_ENST00000566304.1_Silent_p.A64A|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567213.1_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	64					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGCGCTGGAAGGCCTCGTCGA	0.612000													30	244					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112586	44112586	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:44112586G>C	ENST00000361807.3	+	5	1289	c.1095G>C	c.(1093-1095)aaG>aaC	p.K365N	ZNF485_ENST00000374435.3_Missense_Mutation_p.K365N|ZNF485_ENST00000374437.2_Missense_Mutation_p.K274N	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						CCTTTACAAAGAGCTCAACCC	0.443000													13	93					0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159747070	159747070	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:159747070G>T	ENST00000264433.6	+	2	185	c.110G>T	c.(109-111)tGg>tTg	p.W37L	FNIP2_ENST00000505445.1_3'UTR|FNIP2_ENST00000379346.3_Missense_Mutation_p.W60L	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	37					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		ATCCACAGTTGGTCATGTTCG	0.443000													54	194					6.09941e-20	9.06966e-20	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103544306	103544306	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:103544306C>A	ENST00000358392.2	-	3	713	c.396G>T	c.(394-396)ggG>ggT	p.G132G	COL11A1_ENST00000370096.3_Silent_p.G132G|COL11A1_ENST00000512756.1_Silent_p.G132G|COL11A1_ENST00000353414.4_Silent_p.G132G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	132	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGTGATCTCCCAACCTCAA	0.378000													15	63					6.72482e-11	8.57357e-11	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121180455	121180455	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:121180455A>C	ENST00000297848.3	+	5	675	c.405A>C	c.(403-405)agA>agC	p.R135S	COL14A1_ENST00000309791.4_Missense_Mutation_p.R135S|COL14A1_ENST00000537875.1_Missense_Mutation_p.R135S|COL14A1_ENST00000247781.3_Missense_Mutation_p.R135S|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	135					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTGTGGACAGAGGAAATGGGA	0.368000													15	162					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395374	154395374	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:154395374G>T	ENST00000435029.4	+	1	2115	c.1955G>T	c.(1954-1956)cGt>cTt	p.R652L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	652					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R652H(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408000													41	136					1.15183e-24	1.74777e-24	1	1	0
NUDCD1	84955	broad.mit.edu	37	8	110308672	110308672	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:110308672C>A	ENST00000239690.4	-	3	774	c.400G>T	c.(400-402)Gga>Tga	p.G134*	NUDCD1_ENST00000427660.2_Nonsense_Mutation_p.G105*	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	134										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			TACAATCTTCCAGTTCCATCT	0.428000													34	316					4.34311e-12	5.66359e-12	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81637039	81637039	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:81637039C>A	ENST00000356860.3	-	16	1734	c.1396G>T	c.(1396-1398)Gtc>Ttc	p.V466F	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.V466F|CACNA2D1_ENST00000464354.1_5'UTR	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	466	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATGTTGAAGACCGGAAGAGTT	0.313000													11	36					1.08611e-07	1.28123e-07	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77617050	77617050	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:77617050A>G	ENST00000521891.2	+	2	1175	c.727A>G	c.(727-729)Agt>Ggt	p.S243G	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S243G|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S243G|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S243G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	243						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTATCTAACCAGTGATGGCTC	0.463000										HNSCC(33;0.089)			10	64					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19492850	19492850	+	Silent	SNP	G	G	C	rs145778073		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:19492850G>C	ENST00000328405.2	+	10	2045	c.1779G>C	c.(1777-1779)tcG>tcC	p.S593S	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	593						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTGTATGCTCGGGCTCCATGG	0.453000													34	107					0	0	1	0	0
GPATCH3	63906	broad.mit.edu	37	1	27226597	27226597	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:27226597G>C	ENST00000361720.5	-	1	360	c.337C>G	c.(337-339)Caa>Gaa	p.Q113E		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	113						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGAGCTTGAGCCAACCCC	0.612000													27	133					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48596288	48596288	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:48596288C>T	ENST00000262384.3	-	2	502	c.266G>A	c.(265-267)tGc>tAc	p.C89Y	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	89					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AACAAAAATGCAGTGCATGTC	0.403000													20	35					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60069976	60069976	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:60069976C>T	ENST00000397786.2	-	11	2264	c.2188G>A	c.(2188-2190)Gat>Aat	p.D730N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	730					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGTCCCATCTTCTACCTGC	0.338000													16	32					0	0	1	0	0
SPIC	121599	broad.mit.edu	37	12	101880255	101880255	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:101880255C>A	ENST00000551346.1	+	6	612	c.453C>A	c.(451-453)gcC>gcA	p.A151A	SPIC_ENST00000299272.5_Silent_p.A151A			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	151						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AAAAACTTGCCGAGCTTTGGG	0.413000													38	82					6.29468e-14	8.58576e-14	1	1	0
OR8B3	390271	broad.mit.edu	37	11	124267144	124267144	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:124267144T>C	ENST00000354597.3	-	1	120	c.104A>G	c.(103-105)tAc>tGc	p.Y35C		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGTGACAATGTAGACCACTAG	0.423000													29	153					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450184	158450184	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:158450184T>A	ENST00000368152.1	+	1	517	c.517T>A	c.(517-519)Ttc>Atc	p.F173I	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					AATTGGTGGCTTCTTGGCCTC	0.458000													37	252					0	0	1	0	0
NR1I3	9970	broad.mit.edu	37	1	161200586	161200586	+	Silent	SNP	T	T	G	rs2307418	by1000genomes	TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:161200586T>G	ENST00000506209.1	-	7	989	c.847A>C	c.(847-849)Agg>Cgg	p.R283R	NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000479324.1_Intron|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000505005.1_Intron|NR1I3_ENST00000367985.3_Intron|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000442691.2_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367979.2_Intron|NR1I3_ENST00000367980.2_Intron|NR1I3_ENST00000367982.4_Intron|NR1I3_ENST00000367984.4_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000367983.4_Intron|NR1I3_ENST00000428574.2_Intron|NR1I3_ENST00000511748.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTCCAAGCCCTCAGTGTCCCA	0.532000													6	79					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	308033	308033	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:308033G>A	ENST00000428720.1	-	8	1519	c.776C>T	c.(775-777)aCc>aTc	p.T259I	SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000424061.2_Missense_Mutation_p.T259I|SLC6A12_ENST00000536824.1_Missense_Mutation_p.T259I|SLC6A12_ENST00000397296.2_Missense_Mutation_p.T259I|SLC6A12_ENST00000359674.4_Missense_Mutation_p.T259I	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	259					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TCCGGGAAGGGTGACACCTCT	0.552000													35	107					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134071408	134071408	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:134071408C>G	ENST00000264360.4	+	1	939	c.113C>G	c.(112-114)gCt>gGt	p.A38G		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	38	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGGAATATCGCTGAAGATCTG	0.517000													40	115					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53418894	53418894	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:53418894T>A	ENST00000377942.3	-	3	3217	c.3014A>T	c.(3013-3015)cAg>cTg	p.Q1005L	PCDH8_ENST00000338862.4_Missense_Mutation_p.Q908L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1005					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGCTGGGCCTGGTAGTAATT	0.582000													40	86					0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100061079	100061079	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:100061079C>A	ENST00000369214.1	+	4	859	c.598C>A	c.(598-600)Ctc>Atc	p.L200I	PRDM13_ENST00000369215.4_Missense_Mutation_p.L190I	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		TGGCCTCGGTCTCTCCCCAAA	0.711000													12	31					4.3838e-07	5.08582e-07	1	1	0
PEG3	5178	broad.mit.edu	37	19	57327914	57327914	+	Silent	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:57327914A>G	ENST00000326441.9	-	10	2259	c.1896T>C	c.(1894-1896)tgT>tgC	p.C632C	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.C508C|PEG3_ENST00000593695.1_Silent_p.C506C|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.C632C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	632					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGTCTCCCCACACACCTTAC	0.443000													27	100					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17768923	17768923	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:17768923A>G	ENST00000428389.2	-	10	978	c.979T>C	c.(979-981)Tac>Cac	p.Y327H	UNC13A_ENST00000552293.1_Missense_Mutation_p.Y239H|UNC13A_ENST00000519716.2_Missense_Mutation_p.Y239H|UNC13A_ENST00000252773.7_Missense_Mutation_p.Y239H|UNC13A_ENST00000551649.1_Missense_Mutation_p.Y239H|UNC13A_ENST00000550896.1_Missense_Mutation_p.Y239H			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	239	Glu-rich.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GAGTCACTGTAGGACTCCCGG	0.582000													8	28					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26086071	26086071	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:26086071G>T	ENST00000313735.6	-	26	3423	c.3190C>A	c.(3190-3192)Ctg>Atg	p.L1064M		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1064					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCGCTGGCCAGCTGCTGCCGC	0.622000													5	30					0.014758	0.0150212	1	1	0
PTPRM	5797	broad.mit.edu	37	18	7888194	7888194	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr18:7888194G>C	ENST00000332175.8	+	3	1324	c.287G>C	c.(286-288)tGc>tCc	p.C96S	PTPRM_ENST00000400060.4_Missense_Mutation_p.C96S|PTPRM_ENST00000400053.4_Missense_Mutation_p.C34S|PTPRM_ENST00000580170.1_Missense_Mutation_p.C96S	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	96	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GACACCCACTGCATCGATTTT	0.488000													34	184					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3786795	3786795	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:3786795C>A	ENST00000262367.5	-	27	5225	c.4416G>T	c.(4414-4416)tgG>tgT	p.W1472C	CREBBP_ENST00000382070.3_Missense_Mutation_p.W1434C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1472	Cys/His-rich.|Interaction with TRERF1.				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			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)		GAGGACAGGCCCAGATGTGCC	0.507000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						24	118					4.4004e-07	5.08582e-07	1	1	0
MYEOV	26579	broad.mit.edu	37	11	69063315	69063315	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:69063315C>A	ENST00000535407.1	+	2	867	c.224C>A	c.(223-225)gCc>gAc	p.A75D	MYEOV_ENST00000308946.3_Missense_Mutation_p.A133D|MYEOV_ENST00000441339.2_Missense_Mutation_p.A133D			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	133										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GTGTCCCGGGCCAGGAGGGTC	0.627000													36	188					1.30293e-26	1.99336e-26	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112603	248112603	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:248112603G>T	ENST00000357191.3	+	1	444	c.444G>T	c.(442-444)tgG>tgT	p.W148C	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			CAGGGTCTTGGATCATAGGCT	0.443000													99	271					6.65942e-36	1.05583e-35	1	1	0
TBC1D4	9882	broad.mit.edu	37	13	75923324	75923324	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:75923324G>T	ENST00000377636.3	-	5	1736	c.1390C>A	c.(1390-1392)Ctc>Atc	p.L464I	TBC1D4_ENST00000431480.2_Missense_Mutation_p.L464I|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.L464I	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	464	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTTTCACAGAGCTTATGCAAA	0.473000													35	363					1.36615e-20	2.0396e-20	1	1	0
CYP4F2	8529	broad.mit.edu	37	19	16008395	16008395	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:16008395C>A	ENST00000221700.5	-	2	122	c.27G>T	c.(25-27)ctG>ctT	p.L9L	CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Silent_p.L9L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	9					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCAGAGGCCCAGCCAGGACA	0.672000													13	52					1.3612e-06	1.55148e-06	1	1	0
KCNH1	3756	broad.mit.edu	37	1	211263908	211263908	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:211263908A>C	ENST00000367007.4	-	4	604	c.435T>G	c.(433-435)tgT>tgG	p.C145W	KCNH1_ENST00000271751.4_Missense_Mutation_p.C145W	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	145	PAC.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACAAACCTTTACATGAATCAT	0.343000													8	74					0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94750849	94750849	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:94750849C>A	ENST00000306011.3	+	1	808	c.772C>A	c.(772-774)Cag>Aag	p.Q258K		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	258					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		TGGGGCTCAGCAGGCTTCCGG	0.716000													18	30					5.3912e-06	6.04271e-06	1	1	0
CCDC102A	92922	broad.mit.edu	37	16	57552090	57552090	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:57552090C>A	ENST00000258214.2	-	6	1384	c.1138G>T	c.(1138-1140)Gca>Tca	p.A380S		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	380										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CCGACCTGTGCCCGCAGCTTC	0.701000													90	162					7.61764e-41	1.2208e-40	1	1	0
CHKA	1119	broad.mit.edu	37	11	67833278	67833278	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:67833278C>G	ENST00000265689.4	-	9	1126	c.1100G>C	c.(1099-1101)cGg>cCg	p.R367P	CHKA_ENST00000356135.5_Missense_Mutation_p.R349P	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	367					lipid transport|phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	GGGATACTTCCGGATGTTTGC	0.348000													14	103					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12315154	12315154	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:12315154C>T	ENST00000261349.4	-	10	2328	c.2252G>A	c.(2251-2253)aGa>aAa	p.R751K	LRP6_ENST00000543091.1_Missense_Mutation_p.R751K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	751	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CGCGAGAGCTCTGGGACTATC	0.483000													23	203					0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91366627	91366627	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:91366627C>A	ENST00000261172.3	-	4	563	c.471G>T	c.(469-471)aaG>aaT	p.K157N		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	157					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TTTTGTTGATCTTTTTAATTC	0.378000													32	143					5.6714e-07	6.53444e-07	1	1	0
FLNB	2317	broad.mit.edu	37	3	58120357	58120357	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:58120357A>G	ENST00000357272.4	+	27	4694	c.4529A>G	c.(4528-4530)aAg>aGg	p.K1510R	FLNB_ENST00000295956.4_Missense_Mutation_p.K1510R|FLNB_ENST00000358537.3_Missense_Mutation_p.K1510R|FLNB_ENST00000348383.5_Missense_Mutation_p.K1510R|FLNB_ENST00000429972.2_Missense_Mutation_p.K1510R|FLNB_ENST00000419752.2_Missense_Mutation_p.K1341R|FLNB_ENST00000490882.1_Missense_Mutation_p.K1541R|FLNB_ENST00000493452.1_Missense_Mutation_p.K1341R			O75369	FLNB_HUMAN	filamin B, beta	1510	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTCAAGGTCAAGGTCCTTCCC	0.483000													57	157					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678508	88678508	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:88678508C>A	ENST00000394480.1	-	10	1349	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L	NTRK3_ENST00000557856.1_Missense_Mutation_p.R343L|NTRK3_ENST00000542733.2_Missense_Mutation_p.R245L|NTRK3_ENST00000540489.2_Missense_Mutation_p.R343L|NTRK3_ENST00000360948.2_Missense_Mutation_p.R343L|NTRK3_ENST00000357724.2_Missense_Mutation_p.R343L|NTRK3_ENST00000355254.2_Missense_Mutation_p.R343L|NTRK3_ENST00000558676.1_Missense_Mutation_p.R343L|NTRK3_ENST00000317501.3_Missense_Mutation_p.R343L	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	343	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTTGGACTCCCGCAGAGGCTG	0.577000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			20	115					1.01871e-10	1.29432e-10	1	1	0
ST3GAL2	6483	broad.mit.edu	37	16	70415748	70415748	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:70415748G>A	ENST00000393640.4	-	6	3004	c.897C>T	c.(895-897)ttC>ttT	p.F299F	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.F299F			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	299					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TGTCGGCCCCGAACCCGTACA	0.701000													9	142					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207964	58207964	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:58207964C>T	ENST00000377918.3	+	1	1310	c.1284C>T	c.(1282-1284)cgC>cgT	p.R428R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	428	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGACTGACCGCCCGCTGGACC	0.662000													16	22					0	0	1	0	0
TMEM87B	84910	broad.mit.edu	37	2	112834846	112834846	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:112834846C>G	ENST00000283206.4	+	6	948	c.579C>G	c.(577-579)agC>agG	p.S193R		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	193						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CAGATGCAAGCTGGAATTTGA	0.338000													7	47					0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43701483	43701483	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:43701483C>T	ENST00000395809.1	-	2	2588	c.82G>A	c.(82-84)Gga>Aga	p.G28R	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.G36R|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.G28R			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	28					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GCCCCGCCTCCACGCTCCCCC	0.632000													5	7					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46967689	46967689	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:46967689C>T	ENST00000374323.3	-	3	1134	c.547G>A	c.(547-549)Gag>Aag	p.E183K	SYT15_ENST00000503753.1_Missense_Mutation_p.E130K|SYT15_ENST00000374321.4_Missense_Mutation_p.E130K|SYT15_ENST00000374325.3_Missense_Mutation_p.E130K			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	130	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TTGTACAGCTCTGGGTTGATG	0.617000													15	168					0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6417804	6417804	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:6417804C>G	ENST00000398148.3	-	11	1119	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	343	Gly-rich.|KH 3.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TTGATCATCTCTCCACTCCGG	0.642000											OREG0025200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	27					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86311278	86311278	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:86311278G>A	ENST00000337975.5	-	2	2038	c.1764C>T	c.(1762-1764)ccC>ccT	p.P588P	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Silent_p.P588P	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	588						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CTCCTCACGCGGGCAGGTGCT	0.607000													4	26					0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79254235	79254235	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:79254235C>A	ENST00000272324.5	+	4	455	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	REG3G_ENST00000393897.2_Missense_Mutation_p.L91M|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	91	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGTGTCCTCCCTGGTGAGGAG	0.542000													37	187					6.29468e-14	8.58576e-14	1	1	0
KCNT2	343450	broad.mit.edu	37	1	196197454	196197454	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:196197454C>A	ENST00000367433.5	-	27	3337	c.3236G>T	c.(3235-3237)cGa>cTa	p.R1079L	KCNT2_ENST00000294725.8_Missense_Mutation_p.R1103L|KCNT2_ENST00000367431.4_Missense_Mutation_p.R1037L|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1103						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGGATCTGGTCGAATTAAGTA	0.358000													6	45					0.00116845	0.00122977	1	1	0
APLP1	333	broad.mit.edu	37	19	36365433	36365433	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:36365433G>A	ENST00000221891.4	+	9	1276	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000537454.2_Missense_Mutation_p.E323K|APLP1_ENST00000586861.1_Missense_Mutation_p.E356K	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	362					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGACTCTGGAGGAGCAGGT	0.622000													21	162					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628509	46628509	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:46628509G>A	ENST00000470495.1	-	2	1930	c.483C>T	c.(481-483)ggC>ggT	p.G161G	HOXB3_ENST00000490677.1_Silent_p.G27G|HOXB3_ENST00000489475.1_Silent_p.G88G|HOXB3_ENST00000485909.2_Silent_p.G29G|HOXB3_ENST00000476342.1_Silent_p.G161G|HOXB3_ENST00000460160.1_Silent_p.G29G|HOXB3_ENST00000498678.1_Silent_p.G161G|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000472863.1_Silent_p.G88G|HOXB3_ENST00000311626.4_Silent_p.G161G|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	161	Gly-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						tgcctccgccgccgccgccac	0.721000													6	12					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851475	61851475	+	Silent	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:61851475A>T	ENST00000577390.1	-	7	2139	c.1185T>A	c.(1183-1185)acT>acA	p.T395T	CDH8_ENST00000299345.6_Silent_p.T395T|CDH8_ENST00000584337.1_Silent_p.T395T|CDH8_ENST00000577730.1_Silent_p.T395T	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	395	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CAAGTAGGTAAGTCGGTGAAG	0.483000													40	133					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	36936519	36936519	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:36936519T>G	ENST00000566621.1	+	2	392	c.142T>G	c.(142-144)Tac>Gac	p.Y48D	C15orf41_ENST00000567389.1_5'UTR|C15orf41_ENST00000338183.4_5'UTR|C15orf41_ENST00000562877.1_5'UTR|RP11-16L14.2_ENST00000565366.1_RNA|C15orf41_ENST00000569302.1_Missense_Mutation_p.Y48D|C15orf41_ENST00000437989.2_Missense_Mutation_p.Y48D	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	48							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		CTCCCAGGAGTACCAGGTTAG	0.423000													7	74					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974780	21974780	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:21974780A>T	ENST00000304494.5	-	1	317	c.47T>A	c.(46-48)cTg>cAg	p.L16Q	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.L16Q|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.L16Q|CDKN2A_ENST00000498124.1_Missense_Mutation_p.L16Q|CDKN2A_ENST00000494262.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	16			L -> P (in a biliary tract tumor and a familial melanoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.L16fs*9(3)|p.L16P(2)|p.S12fs*6(1)|p.0(1)|p.S7_A19del(1)|p.L16R(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGCCGTGGCCAGCCAGTCAGC	0.756000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			17	29					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2945371	2945371	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:2945371G>C	ENST00000381130.2	+	7	1054	c.1054G>C	c.(1054-1056)Gga>Cga	p.G352R		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	352						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGGAATGGGAGGATGGGAAGG	0.517000													19	31					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566508	129566508	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:129566508C>T	ENST00000422113.2	-	7	2045	c.1719G>A	c.(1717-1719)caG>caA	p.Q573Q	TMEM132D_ENST00000389441.4_Silent_p.Q111Q	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	573						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCATGGCGTGCTGGTACTGCA	0.652000													18	81					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797787	76797787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:76797787C>A	ENST00000286719.7	-	11	1329	c.973G>T	c.(973-975)Gag>Tag	p.E325*		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	325	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATCTGCTTCTCACTCTTCTGT	0.517000													15	68					6.31663e-08	7.4991e-08	1	1	0
ZNF667	63934	broad.mit.edu	37	19	56953918	56953918	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:56953918C>A	ENST00000504904.3	-	7	1165	c.446G>T	c.(445-447)tGt>tTt	p.C149F	ZNF667_ENST00000342634.3_Missense_Mutation_p.C277F|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.C149F			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGTTTTACCACAGTCATTACA	0.373000													23	174					6.44725e-10	8.09452e-10	1	1	0
HCN1	348980	broad.mit.edu	37	5	45353210	45353210	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:45353210G>C	ENST00000303230.4	-	5	1426	c.1369C>G	c.(1369-1371)Ctg>Gtg	p.L457V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L457M(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCTCTCTCAGAGGATCATTG	0.348000													14	96					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50392979	50392979	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:50392979A>T	ENST00000434422.1	-	10	1125	c.824T>A	c.(823-825)gTg>gAg	p.V275E	RACGAP1_ENST00000551016.1_Missense_Mutation_p.V275E|RACGAP1_ENST00000547905.1_Missense_Mutation_p.V275E|RACGAP1_ENST00000427314.2_Missense_Mutation_p.V275E|RACGAP1_ENST00000547061.1_5'UTR|RACGAP1_ENST00000454520.2_Missense_Mutation_p.V275E|RACGAP1_ENST00000312377.5_Missense_Mutation_p.V275E			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	275	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGGCGTGCCCACACTGTCTGT	0.433000													28	67					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744528	154744528	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:154744528G>A	ENST00000271915.3	-	3	1686	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	KCNN3_ENST00000361147.4_Silent_p.I152I|KCNN3_ENST00000358505.2_Silent_p.I144I	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	462						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TGCCAGGGCAGATGGTCATGA	0.552000													17	135					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419072	55419072	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:55419072G>C	ENST00000312422.2	+	1	693	c.693G>C	c.(691-693)agG>agC	p.R231S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CAGAAGGCAGGCGCAAAGCCC	0.502000													9	197					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37953858	37953858	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:37953858C>T	ENST00000436072.2	-	3	926	c.549G>A	c.(547-549)gtG>gtA	p.V183V	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	183	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAGTTGGCTTCACCTTTTTAC	0.413000													34	96					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397506	13397506	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:13397506G>T	ENST00000360228.5	-	20	3363	c.3364C>A	c.(3364-3366)Cgc>Agc	p.R1122S	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R1123S	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1123					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGCGTCCGGCGGCTGGCGGCG	0.687000													8	18					0.00307968	0.00320045	1	1	0
USP34	9736	broad.mit.edu	37	2	61575023	61575023	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:61575023T>C	ENST00000398571.2	-	15	2343	c.2267A>G	c.(2266-2268)cAt>cGt	p.H756R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	756					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			gtggtggtgatggtggtggtg	0.388000													28	82					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44585081	44585081	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:44585081C>A	ENST00000422871.1	+	6	759	c.335C>A	c.(334-336)gCc>gAc	p.A112D	PARVG_ENST00000415224.1_Missense_Mutation_p.A112D|PARVG_ENST00000444313.2_Missense_Mutation_p.A112D	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	112	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GTGCTGGAGGCCGTGAACCGG	0.652000													11	47					7.03913e-09	8.54833e-09	1	1	0
OR5K1	26339	broad.mit.edu	37	3	98188970	98188970	+	Silent	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:98188970T>C	ENST00000332650.5	+	1	647	c.550T>C	c.(550-552)Ttg>Ctg	p.L184L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATTCTTCCCTTGTATAGACT	0.373000													71	209					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83673977	83673977	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:83673977T>C	ENST00000398309.2	-	9	1446	c.976A>G	c.(976-978)Agg>Ggg	p.R326G	DLG2_ENST00000524982.1_Missense_Mutation_p.R326G|DLG2_ENST00000398301.2_Missense_Mutation_p.R365G|DLG2_ENST00000330014.6_Missense_Mutation_p.R265G|DLG2_ENST00000280241.8_Missense_Mutation_p.R365G|DLG2_ENST00000543673.1_Missense_Mutation_p.R431G|DLG2_ENST00000537455.1_Missense_Mutation_p.R80G|DLG2_ENST00000531015.1_Missense_Mutation_p.R293G|DLG2_ENST00000376104.2_Missense_Mutation_p.R431G|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000418306.2_Missense_Mutation_p.R275G|DLG2_ENST00000532653.1_Missense_Mutation_p.R326G	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	326						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GGTGAGTACCTTCCTGGAGAG	0.433000													62	168					0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18296237	18296237	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:18296237G>A	ENST00000377671.3	+	7	1298	c.739G>A	c.(739-741)Gag>Aag	p.E247K	ZNF133_ENST00000535822.1_Missense_Mutation_p.E153K|ZNF133_ENST00000538547.1_Missense_Mutation_p.E153K|ZNF133_ENST00000396026.3_Missense_Mutation_p.E251K|ZNF133_ENST00000316358.4_Missense_Mutation_p.E248K|ZNF133_ENST00000401790.1_Missense_Mutation_p.E248K|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Missense_Mutation_p.E185K	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	248						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TGGGGTATGTGAGAAGGGCTT	0.557000													14	70					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627000													16	72					0	0	1	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952684	33952684	+	RNA	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:33952684G>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							GGGAACGGCCGTGGGACAGGA	0.647000													11	57					0.00136819	0.00143593	1	1	0
SMAD9	4093	broad.mit.edu	37	13	37453478	37453478	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:37453478A>C	ENST00000379826.4	-	2	691	c.349T>G	c.(349-351)Ttt>Gtt	p.F117V	SMAD9_ENST00000399275.2_Missense_Mutation_p.F117V|SMAD9_ENST00000350148.5_Missense_Mutation_p.F117V	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	117	MH1.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TTGGAGCCAAATGGGAACTCA	0.567000													5	81					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133196859	133196859	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:133196859T>G	ENST00000389110.3	+	6	598	c.561T>G	c.(559-561)ttT>ttG	p.F187L	P2RX2_ENST00000343948.4_Missense_Mutation_p.F187L|P2RX2_ENST00000350048.5_Missense_Mutation_p.F163L|P2RX2_ENST00000449132.2_Missense_Mutation_p.S152A|P2RX2_ENST00000348800.5_Missense_Mutation_p.F187L|P2RX2_ENST00000352418.4_Missense_Mutation_p.F115L|P2RX2_ENST00000351222.4_Missense_Mutation_p.F95L	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	187					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCAGCCAATTTCTGGGTACGA	0.572000													6	78					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21769312	21769312	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:21769312C>A	ENST00000206660.6	+	3	406	c.406C>A	c.(406-408)Ccc>Acc	p.P136T	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P136T|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P136T|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P136T			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	136					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CCCTGCCAGCCCCCGCCGCGC	0.682000													6	16					0.00198382	0.00206741	1	1	0
FAT4	79633	broad.mit.edu	37	4	126397365	126397365	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:126397365G>C	ENST00000394329.3	+	12	12260	c.12247G>C	c.(12247-12249)Gag>Cag	p.E4083Q	FAT4_ENST00000335110.5_Missense_Mutation_p.E2346Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4083	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAGAACCAAGAGCCAGGATA	0.363000													11	145					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968039	4968039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrY:4968039C>A	ENST00000333703.4	+	5	2900	c.2387C>A	c.(2386-2388)tCa>tAa	p.S796*	PCDH11Y_ENST00000215473.6_Nonsense_Mutation_p.S807*|PCDH11Y_ENST00000362095.5_Nonsense_Mutation_p.S807*	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	807	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTGAATGAGTCAGTGACCAAT	0.428000													66	95					1.48873e-21	2.2361e-21	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64498014	64498014	+	Translation_Start_Site	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:64498014A>T	ENST00000357395.3	+	0	7390				SYNE2_ENST00000344113.4_Missense_Mutation_p.Q2387L|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q2387L|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q2387L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGATGTGCAGGAGTCTACT	0.443000													14	88					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170094	20170094	+	RNA	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:20170094G>A	ENST00000338912.5	-	0	177																											CCTTGTGCATGGGCCTGGCAC	0.567000													20	142					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66286284	66286284	+	Splice_Site	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:66286284C>G	ENST00000273854.3	-	6	2003		c.e6-1		EPHA5_ENST00000511294.1_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site|EPHA5_ENST00000432638.2_Splice_Site	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGAGATGGAGCTGCAAAATAG	0.363000										TSP Lung(17;0.13)			15	45					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165351035	165351035	+	Splice_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:165351035C>A	ENST00000263915.3	-	13	1921		c.e13-1		GRB14_ENST00000543549.1_Splice_Site|GRB14_ENST00000497306.1_Intron	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14						blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CAAGAAAACTCTAAAGAGAGA	0.328000													16	51					1.5739e-10	1.98949e-10	1	1	0
TOP3B	8940	broad.mit.edu	37	22	22324643	22324643	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:22324643C>T	ENST00000398793.2	-	6	954	c.520G>A	c.(520-522)Gag>Aag	p.E174K	TOP3B_ENST00000357179.5_Missense_Mutation_p.E174K|TOP3B_ENST00000413067.2_Intron	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	174					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GAGAGCGCCTCGTTGTGGTCA	0.622000													13	33					0	0	1	0	0
FABP12	646486	broad.mit.edu	37	8	82443480	82443480	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:82443480A>T	ENST00000360464.4	-	1	133	c.71T>A	c.(70-72)cTg>cAg	p.L24Q	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	24							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						TAGCTCACCCAGCTCCTTCAT	0.373000													3	17					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160165	132160165	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:132160165T>C	ENST00000511190.1	-	6	2553	c.2084A>G	c.(2083-2085)aAt>aGt	p.N695S	USP26_ENST00000370832.1_Missense_Mutation_p.N695S|USP26_ENST00000406273.1_Missense_Mutation_p.N695S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	695					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCGTTTTGGATTTTCGGGCAC	0.378000													39	48					0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137742522	137742522	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:137742522C>A	ENST00000183605.5	+	2	469	c.243C>A	c.(241-243)gcC>gcA	p.A81A	CLDN18_ENST00000343735.4_Silent_p.A81A	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	81					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CAGTGCGAGCCCTGATGATCG	0.522000													20	56					3.62473e-10	4.5663e-10	1	1	0
MTG1	92170	broad.mit.edu	37	10	135212019	135212019	+	Splice_Site	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:135212019G>T	ENST00000468317.2	+	5	633	c.378_splice	c.e5+1	p.Q126_splice	MTG1_ENST00000477902.2_Splice_Site_p.Q80_splice|MTG1_ENST00000317502.6_Splice_Site_p.Q121_splice																							ATGTCAAGCAGGTAGGCTTTT	0.378000													15	116					1.5739e-10	1.98949e-10	1	1	0
AMACR	23600	broad.mit.edu	37	5	34005891	34005891	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:34005891C>A	ENST00000335606.6	-	2	449	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C	AMACR_ENST00000441713.2_Missense_Mutation_p.G121C|AMACR_ENST00000382085.3_Missense_Mutation_p.G121C|AMACR_ENST00000502637.1_Missense_Mutation_p.G121C|AMACR_ENST00000382072.2_Missense_Mutation_p.G121C|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	121					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATATCGTGGCCAGCTAACCGG	0.428000													34	80					1.60099e-16	2.27138e-16	1	1	0
DYSF	8291	broad.mit.edu	37	2	71766320	71766320	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:71766320C>T	ENST00000258104.3	+	16	1708	c.1431C>T	c.(1429-1431)acC>acT	p.T477T	DYSF_ENST00000409366.1_Silent_p.T478T|DYSF_ENST00000409582.3_Silent_p.T508T|DYSF_ENST00000409744.1_Silent_p.T478T|DYSF_ENST00000410020.3_Silent_p.T509T|DYSF_ENST00000413539.2_Silent_p.T508T|DYSF_ENST00000410041.1_Silent_p.T509T|DYSF_ENST00000394120.2_Silent_p.T478T|DYSF_ENST00000409762.1_Silent_p.T508T|DYSF_ENST00000409651.1_Silent_p.T509T|DYSF_ENST00000429174.2_Silent_p.T477T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	477	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCGTGGCTACCACCTACCTGA	0.562000													21	102					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	745868	745868	+	Missense_Mutation	SNP	T	T	C	rs113864305		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:745868T>C	ENST00000381944.3	-	2	792	c.551A>G	c.(550-552)gAg>gGg	p.E184G	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Missense_Mutation_p.E184G			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	184					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GATGTCAGTCTCCCTCGTGGG	0.567000													22	62					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394780	52394780	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:52394780C>G	ENST00000354957.3	-	5	893	c.609G>C	c.(607-609)aaG>aaC	p.K203N	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.K203N	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CGTGGGGTTTCTTTCCTGTAT	0.473000													11	212					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092658	151092658	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:151092658C>T	ENST00000370335.1	+	3	789	c.522C>T	c.(520-522)agC>agT	p.S174S	MAGEA4_ENST00000393920.1_Silent_p.S174S|MAGEA4_ENST00000393921.1_Silent_p.S174S|MAGEA4_ENST00000370337.4_Silent_p.S174S|MAGEA4_ENST00000370340.3_Silent_p.S174S|MAGEA4_ENST00000276344.2_Silent_p.S174S|MAGEA4_ENST00000360243.2_Silent_p.S174S			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	174	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCCGCCAGCAACACCTACA	0.512000													57	98					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38590664	38590664	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:38590664C>T	ENST00000222345.6	+	5	2237	c.1728C>T	c.(1726-1728)acC>acT	p.T576T		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	576					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCATGGGACCGGGCGGGGCC	0.637000													34	139					0	0	1	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132553	59132553	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:59132553G>T	ENST00000313940.2	+	1	669	c.622G>T	c.(622-624)Ggg>Tgg	p.G208W		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G208W(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CATGTTCTTTGGGATAGCAAG	0.418000													55	165					1.39843e-22	2.10901e-22	1	1	0
EIF3F	8665	broad.mit.edu	37	11	8008911	8008911	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:8008911G>T	ENST00000533626.1	+	3	638	c.12G>T	c.(10-12)ccG>ccT	p.P4P	EIF3F_ENST00000309828.4_Silent_p.P4P|EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000537635.1_Silent_p.P19P			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	4						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGCCACACCGGCGGTACCAG	0.612000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	144					6.26901e-30	9.73139e-30	1	1	0
TRPM7	54822	broad.mit.edu	37	15	50906340	50906340	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:50906340T>A	ENST00000313478.7	-	14	1896	c.1615A>T	c.(1615-1617)Agt>Tgt	p.S539C	TRPM7_ENST00000560955.1_Missense_Mutation_p.S539C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	539					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CCACCAAGACTATTATATATT	0.303000													14	54					0	0	1	0	0
SNX2	6643	broad.mit.edu	37	5	122152644	122152644	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:122152644G>A	ENST00000379516.2	+	9	941	c.833G>A	c.(832-834)gGa>gAa	p.G278E	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.G161E	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	278					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GCTCTGAGTGGAGCAGGAATA	0.443000													5	43					0	0	1	0	0
ZFP14	57677	broad.mit.edu	37	19	36831776	36831776	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:36831776C>A	ENST00000270001.7	-	5	1067	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					AAGGCTTTCCCACATTCCTTA	0.408000													37	125					1.60099e-16	2.27138e-16	1	1	0
OR4K2	390431	broad.mit.edu	37	14	20345099	20345099	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:20345099G>A	ENST00000298642.2	+	1	709	c.673G>A	c.(673-675)Gtg>Atg	p.V225M		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTGGTTACTGTGAAGCATCA	0.373000													72	230					0	0	1	0	0
FGF10	2255	broad.mit.edu	37	5	44310633	44310633	+	Splice_Site	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:44310633C>T	ENST00000264664.4	-	2	440		c.e2-1			NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10						actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TCCAGGATGCCTAAAACATAC	0.333000													14	32					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36008837	36008837	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:36008837C>G	ENST00000307138.6	-	40	6631	c.6163G>C	c.(6163-6165)Gac>Cac	p.D2055H	RALGAPA1_ENST00000389698.3_3'UTR|RALGAPA1_ENST00000258840.6_3'UTR	NM_194301.2	NP_919277.2	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	0					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGGCCAGGTCAGCCCCATCT	0.517000													39	159					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144881543	144881543	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:144881543G>T	ENST00000369359.4	-	28	4102	c.4064C>A	c.(4063-4065)tCc>tAc	p.S1355Y	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1355Y|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1174Y|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1218Y|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1218Y			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1218					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGACAGCTGGGAGCGCAGGTG	0.547000			T	PDGFRB	MPD								26	368					6.36457e-07	7.31039e-07	1	1	0
NXPH1	30010	broad.mit.edu	37	7	8790941	8790941	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:8790941G>T	ENST00000405863.1	+	3	1269	c.358G>T	c.(358-360)Gga>Tga	p.G120*	NXPH1_ENST00000602349.1_Nonsense_Mutation_p.G3*|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	120	III.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GAAAATGTTTGGATGGGGCGA	0.453000													11	92					0.00829132	0.00856847	1	1	0
KDM4E	390245	broad.mit.edu	37	11	94759439	94759439	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:94759439C>T	ENST00000450979.2	+	1	1018	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	240	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GGCCTTCCTGCGGCACAAAGT	0.562000													19	58					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707445	96707445	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:96707445G>A	ENST00000542454.2	+	3	3787	c.699G>A	c.(697-699)aaG>aaA	p.K233K	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Silent_p.K260K|BDKRB2_ENST00000539359.1_Silent_p.K233K|BDKRB2_ENST00000554311.1_Silent_p.K260K			P30411	BKRB2_HUMAN	bradykinin receptor B2	260					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGAAGTTCAAGGAGATCCAGA	0.552000													11	61					0	0	1	0	0
MSANTD3	91283	broad.mit.edu	37	9	103204402	103204402	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:103204402G>T	ENST00000395067.2	+	2	453	c.182G>T	c.(181-183)aGc>aTc	p.S61I	MSANTD3_ENST00000374885.1_Missense_Mutation_p.S61I	NM_001198805.1|NM_001198806.1|NM_080655.2	NP_001185734.1|NP_001185735.1|NP_542386.1			Myb/SANT-like DNA-binding domain containing 3											endometrium(2)|lung(2)	4						TCTCAGCCCAGCGTGTCCCTG	0.483000													13	43					0.00010058	0.000109589	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22384373	22384373	+	Splice_Site	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:22384373T>C	ENST00000263160.3	+	6	1185		c.e6+2			NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6						sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATGTCTACGGTATGTTATATT	0.378000													20	45					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168253	64168253	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:64168253A>T	ENST00000395391.1	+	4	2946	c.1571A>T	c.(1570-1572)aAc>aTc	p.N524I	ZNF107_ENST00000423627.1_Missense_Mutation_p.N524I|ZNF107_ENST00000344930.3_Missense_Mutation_p.N524I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAGAAACTCAACAAATGTGAA	0.338000													16	43					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62208143	62208143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:62208143C>A	ENST00000261517.5	-	61	8207	c.8134G>T	c.(8134-8136)Gaa>Taa	p.E2712*	VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E2669*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E2712*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E2669*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2712					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGGACTAATTCCATTATTTCA	0.418000													20	73					5.35267e-07	6.17679e-07	1	1	0
KIAA0319	9856	broad.mit.edu	37	6	24564550	24564550	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:24564550C>A	ENST00000535378.1	-	16	2926	c.2284G>T	c.(2284-2286)Gac>Tac	p.D762Y	KIAA0319_ENST00000378214.3_Missense_Mutation_p.D771Y|KIAA0319_ENST00000543707.1_Missense_Mutation_p.D771Y|KIAA0319_ENST00000430948.2_Missense_Mutation_p.D726Y|KIAA0319_ENST00000537886.1_Missense_Mutation_p.D771Y	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	771	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ACACTGTGGTCAGAGCCATCG	0.557000													19	61					1.15919e-05	1.27993e-05	1	1	0
SLC35F2	54733	broad.mit.edu	37	11	107673821	107673821	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:107673821A>T	ENST00000525071.1	-	10	1433	c.845T>A	c.(844-846)gTg>gAg	p.V282E	SLC35F2_ENST00000375682.4_Missense_Mutation_p.V235E|SLC35F2_ENST00000429869.1_Missense_Mutation_p.V282E|SLC35F2_ENST00000525815.1_Missense_Mutation_p.V282E|SLC35F2_ENST00000265836.7_Missense_Mutation_p.V134E			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	282					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GACTTTAATCACCAATGGCAT	0.453000													5	59					0	0	1	0	0
CARD8	22900	broad.mit.edu	37	19	48734062	48734062	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:48734062G>A	ENST00000391898.3	-	6	786	c.744C>T	c.(742-744)atC>atT	p.I248I	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000359009.4_Silent_p.I143I|CARD8_ENST00000520015.1_Silent_p.I248I|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Silent_p.I198I|CARD8_ENST00000520753.1_Silent_p.I248I|CARD8_ENST00000519940.1_Silent_p.I248I|CARD8_ENST00000521613.1_Silent_p.I198I|CARD8_ENST00000447740.2_Silent_p.I198I	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	143					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		GGGGGAGGTGGATTTCGGCGA	0.632000													27	111					0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75914961	75914961	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:75914961C>A	ENST00000321027.3	-	11	1815	c.1682G>T	c.(1681-1683)cGa>cTa	p.R561L	GCFC2_ENST00000541687.1_3'UTR|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000409857.3_Missense_Mutation_p.R523L	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	561					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										ACCTGTAAGTCGGGGAATAAT	0.308000													21	83					2.89027e-11	3.70394e-11	1	1	0
TPTE	7179	broad.mit.edu	37	21	10934071	10934071	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr21:10934071G>T	ENST00000298232.7	-	15	1219	c.852C>A	c.(850-852)atC>atA	p.I284I	TPTE_ENST00000342420.5_Silent_p.I264I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.I302I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	302	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I284I(1)|p.I302I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCAATCATGATTCTAACGA	0.313000													23	197					4.7796e-09	5.85225e-09	1	1	0
RHOXF1	158800	broad.mit.edu	37	X	119246802	119246802	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:119246802C>T	ENST00000217999.2	-	2	495	c.421G>A	c.(421-423)Ggt>Agt	p.G141S	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	141					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						TCAGTCACACCTAAGTTTTCG	0.403000													55	103					0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35300203	35300203	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:35300203G>T	ENST00000254457.5	+	5	2407	c.996G>T	c.(994-996)ccG>ccT	p.P332P	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	332					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACCCGCTGCCGGGCCACCACC	0.751000													3	12					1	1	1	1	0
PTPRN2	5799	broad.mit.edu	37	7	157475567	157475567	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:157475567C>A	ENST00000389413.3	-	12	1867	c.1764G>T	c.(1762-1764)gcG>gcT	p.A588A	PTPRN2_ENST00000389416.4_Silent_p.A600A|PTPRN2_ENST00000404321.2_Silent_p.A640A|PTPRN2_ENST00000389418.4_Silent_p.A617A|PTPRN2_ENST00000409483.1_Silent_p.A579A	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	617						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A617A(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CCAGGGTGAGCGCGATGAACT	0.587000													16	67					2.32078e-09	2.86526e-09	1	1	0
TRIM33	51592	broad.mit.edu	37	1	114948095	114948095	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:114948095C>G	ENST00000358465.2	-	15	2788	c.2705G>C	c.(2704-2706)tGc>tCc	p.C902S	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000450349.2_Missense_Mutation_p.C534S|TRIM33_ENST00000369543.2_Missense_Mutation_p.C902S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	902					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		ACATTTTTCGCAGCACAAGAG	0.423000			T	RET	papillary thyroid								35	326					0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64423907	64423907	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:64423907A>T	ENST00000353874.4	+	11	1073	c.1037A>T	c.(1036-1038)cAg>cTg	p.Q346L	SNX1_ENST00000261889.5_Missense_Mutation_p.Q346L|SNX1_ENST00000561026.1_Missense_Mutation_p.Q281L|SNX1_ENST00000560829.1_Missense_Mutation_p.Q128L|SNX1_ENST00000559844.1_Missense_Mutation_p.Q346L			Q13596	SNX1_HUMAN	sorting nexin 1	346	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AACACAGCCCAGTTTGCAAAG	0.527000													6	65					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651200	152651200	+	Missense_Mutation	SNP	C	C	T	rs147947110		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:152651200C>T	ENST00000367255.5	-	78	15221	c.14620G>A	c.(14620-14622)Gag>Aag	p.E4874K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E4803K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4803K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4874K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4621K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4874					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCACCGTCTCACCAATGGCA	0.527000										HNSCC(10;0.0054)			39	97					0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621526	99621526	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:99621526G>C	ENST00000324306.6	+	2	631	c.397G>C	c.(397-399)Gac>Cac	p.D133H	ZKSCAN1_ENST00000535170.1_Intron|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.D97H	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	133	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCTTCTAGAAGACTTGGAGCT	0.512000													11	87					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139906804	139906804	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:139906804G>C	ENST00000265662.5	-	33	5359	c.5212C>G	c.(5212-5214)Cac>Gac	p.H1738D	ABCA2_ENST00000371605.3_Missense_Mutation_p.H1737D|ABCA2_ENST00000341511.6_Missense_Mutation_p.H1738D			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1737					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGCATGCTGTGATAGCCCTTG	0.592000													9	19					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235938216	235938216	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:235938216C>G	ENST00000389794.3	-	18	5805	c.5631G>C	c.(5629-5631)ttG>ttC	p.L1877F	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.L1877F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1877					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GACATACCTTCAAAATGTAAA	0.294000													6	45					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121414266	121414266	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:121414266C>T	ENST00000393667.3	-	13	5214	c.5104G>A	c.(5104-5106)Gac>Aac	p.D1702N	GOLGB1_ENST00000340645.5_Missense_Mutation_p.D1697N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1697					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTAAGCCGGTCATTCTCTTCT	0.433000													37	234					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237823331	237823331	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:237823331A>T	ENST00000366574.2	+	55	8572	c.8255A>T	c.(8254-8256)aAg>aTg	p.K2752M	RYR2_ENST00000542537.1_Missense_Mutation_p.K2736M|RYR2_ENST00000360064.6_Missense_Mutation_p.K2750M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2752	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACTCTTCTAAGGTTCAGCCA	0.274000													3	16					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576453	33576453	+	Silent	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:33576453G>C	ENST00000504830.1	-	19	4013	c.3678C>G	c.(3676-3678)ccC>ccG	p.P1226P	ADAMTS12_ENST00000352040.3_Silent_p.P1141P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1226	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CGGAAGTAGTGGGCCTTTGGC	0.567000										HNSCC(64;0.19)			37	215					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36321794	36321794	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:36321794C>A	ENST00000378910.5	-	28	3545	c.3546G>T	c.(3544-3546)acG>acT	p.T1182T	NPHS1_ENST00000353632.6_Silent_p.T1142T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1182	Binds to NPHS2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACGGGGGGTACGTTCTTTCTA	0.542000													33	174					1.45844e-13	1.95689e-13	1	1	0
C10orf12	26148	broad.mit.edu	37	10	98742027	98742027	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:98742027A>C	ENST00000286067.2	+	1	987	c.880A>C	c.(880-882)Agc>Cgc	p.S294R		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	294										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAACCTGAGCAGCTCCCCTAG	0.567000													11	85					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55581740	55581740	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:55581740G>T	ENST00000361849.3	-	34	6146	c.5752C>A	c.(5752-5754)Caa>Aaa	p.Q1918K	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q1847K|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q1913K|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q1893K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q1876K|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q770K|PCDH15_ENST00000320301.6_Missense_Mutation_p.Q1916K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1916					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CACATAGTTTGAAGTTCTGAA	0.348000										HNSCC(58;0.16)			20	124					1.33834e-09	1.65784e-09	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717515	222717515	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:222717515G>A	ENST00000343410.6	-	2	396	c.338C>T	c.(337-339)gCa>gTa	p.A113V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	113					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.A113E(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GAGGTGGGCTGCGTAGGGCGA	0.547000													15	220					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508532	37508532	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:37508532G>A	ENST00000374660.1	+	40	4180	c.4081G>A	c.(4081-4083)Gct>Act	p.A1361T	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A1242T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A1242T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1298						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATGAAGGAAGCTGAACACAT	0.348000													9	61					0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281234	49281234	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:49281234G>T	ENST00000282018.3	+	1	284	c.281G>T	c.(280-282)aGg>aTg	p.R94M		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	94					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CTTCCCTTCAGGGCTGACTAT	0.413000													27	82					6.36457e-07	7.31039e-07	1	1	0
AHRR	57491	broad.mit.edu	37	5	434591	434591	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:434591G>T	ENST00000316418.5	+	12	1846	c.1802G>T	c.(1801-1803)cGg>cTg	p.R601L	AHRR_ENST00000505113.1_Missense_Mutation_p.R583L|AHRR_ENST00000506456.1_Missense_Mutation_p.R439L|AHRR_ENST00000512529.1_Missense_Mutation_p.R429L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	583	Needed for transcriptional repression (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCAGACTCTCGGCAACAGGTG	0.672000													13	27					6.72482e-11	8.57357e-11	1	1	0
POLR2I	5438	broad.mit.edu	37	19	36605292	36605292	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:36605292T>G	ENST00000221859.4	-	3	626	c.137A>C	c.(136-138)cAg>cCg	p.Q46P		NM_006233.4	NP_006224.1	P36954	RPB9_HUMAN	polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa	46					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTCGGCCTCCTGCTGGTAATC	0.607000											OREG0025437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	38					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	84028072	84028072	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:84028072C>A	ENST00000280241.8	-	1	116	c.117G>T	c.(115-117)agG>agT	p.R39S	DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.R39S|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000532653.1_Intron	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CCTGACAGTTCCTCTGCCAGC	0.637000													47	140					1.30409e-13	1.75614e-13	1	1	0
FHDC1	85462	broad.mit.edu	37	4	153896715	153896715	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:153896715G>T	ENST00000511601.1	+	12	2460	c.2272G>T	c.(2272-2274)Ggt>Tgt	p.G758C	FHDC1_ENST00000260008.3_Missense_Mutation_p.G758C			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	758					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGGATCTGTGGGTAGCAGCGA	0.607000													14	76					2.61681e-11	3.36512e-11	1	1	0
CHD7	55636	broad.mit.edu	37	8	61766020	61766020	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:61766020G>T	ENST00000423902.2	+	31	7215	c.6736G>T	c.(6736-6738)Gag>Tag	p.E2246*	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2246	Glu-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAAAAGCTGGAGGATGACGA	0.522000													14	88					3.27435e-08	3.90606e-08	1	1	0
IFIH1	64135	broad.mit.edu	37	2	163144753	163144753	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:163144753G>T	ENST00000263642.2	-	5	1382	c.987C>A	c.(985-987)ctC>ctA	p.L329L		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	329	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TCCCTGTAGGGAGGCAGATGA	0.488000													31	77					1.08312e-15	1.525e-15	1	1	0
ADRBK2	157	broad.mit.edu	37	22	26074850	26074850	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:26074850G>A	ENST00000324198.5	+	9	907	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	239	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AGCCTTAAATGAAAGAATCAT	0.299000													15	78					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495841	179495841	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:179495841T>C	ENST00000589042.1	-	237	44158	c.43934A>G	c.(43933-43935)aAg>aGg	p.K14645R	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K5705R|TTN_ENST00000591111.1_Missense_Mutation_p.K13004R|TTN_ENST00000460472.2_Missense_Mutation_p.K5580R|TTN_ENST00000342992.6_Missense_Mutation_p.K12077R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K5772R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13004	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGGCTTTCTTTAGGATTAG	0.413000													24	55					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652518	152652518	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:152652518C>T	ENST00000367255.5	-	78	13903	c.13302G>A	c.(13300-13302)gtG>gtA	p.V4434V	SYNE1_ENST00000448038.1_Silent_p.V4363V|SYNE1_ENST00000423061.1_Silent_p.V4363V|SYNE1_ENST00000265368.4_Silent_p.V4434V|SYNE1_ENST00000341594.5_Silent_p.V4299V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4434					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAGACAATTCACGTGGCTTT	0.498000										HNSCC(10;0.0054)			33	113					0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38301582	38301582	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:38301582A>T	ENST00000260630.3	-	2	1351	c.950T>A	c.(949-951)tTg>tAg	p.L317*	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Nonsense_Mutation_p.L317*	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	317					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TACGTTCTCCAAATCCAGCCG	0.662000													9	14					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51637416	51637416	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:51637416G>A	ENST00000375695.2	+	2	169	c.16G>A	c.(16-18)Gac>Aac	p.D6N	MAGED1_ENST00000326587.7_Missense_Mutation_p.D6N|MAGED1_ENST00000375722.1_Missense_Mutation_p.D6N|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.D6N	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	0					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TCAGAAAATGGACTGTGGTGC	0.632000										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	6					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64519227	64519227	+	Translation_Start_Site	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:64519227A>T	ENST00000357395.3	+	0	8826				SYNE2_ENST00000344113.4_Missense_Mutation_p.T2866S|SYNE2_ENST00000554584.1_Missense_Mutation_p.T2899S|SYNE2_ENST00000358025.3_Missense_Mutation_p.T2866S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACAGCTGCCACGGAAGCTGA	0.398000													14	82					0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31819434	31819434	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:31819434C>T	ENST00000382902.1	-	5	822	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	OTUD7A_ENST00000307050.4_Missense_Mutation_p.E244K			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	244	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TTCAGGGCTTCCCTCTCAGCT	0.612000													38	161					0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27126076	27126076	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:27126076T>A	ENST00000335625.5	+	4	1058	c.170T>A	c.(169-171)tTg>tAg	p.L57*	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_3'UTR|GABRA5_ENST00000400081.3_Nonsense_Mutation_p.L57*|GABRA5_ENST00000355395.5_Nonsense_Mutation_p.L57*	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	57					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATGGGCTCTTGGATGGCTAC	0.498000													9	38					0	0	1	0	0
C22orf43	51233	broad.mit.edu	37	22	23956354	23956354	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:23956354C>A	ENST00000317749.5	-	9	886	c.589G>T	c.(589-591)Gat>Tat	p.D197Y		NM_016449.3	NP_057533.2	Q6PGQ1	CV043_HUMAN	chromosome 22 open reading frame 43	197	Asp-rich.									endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCTTCTTCATCTTTGTGTCTC	0.413000													24	69					1.64293e-13	2.1965e-13	1	1	0
DTNA	1837	broad.mit.edu	37	18	32335939	32335939	+	Splice_Site	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr18:32335939G>C	ENST00000283365.9	+	3	350		c.e3-1		DTNA_ENST00000598774.1_Splice_Site|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000595022.1_Splice_Site|DTNA_ENST00000269190.7_Splice_Site|DTNA_ENST00000315456.6_Splice_Site|DTNA_ENST00000399121.5_Splice_Site|DTNA_ENST00000596745.1_Splice_Site|DTNA_ENST00000348997.5_Splice_Site|DTNA_ENST00000598334.1_Splice_Site|DTNA_ENST00000554864.3_Splice_Site|DTNA_ENST00000598142.1_Splice_Site|DTNA_ENST00000399097.3_Splice_Site|DTNA_ENST00000597599.1_Splice_Site|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000444659.1_Intron	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha						neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTGTCTCATAGAATGATTGAA	0.378000													12	48					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165808	172165808	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:172165808G>T	ENST00000241256.2	-	1	438	c.396C>A	c.(394-396)ctC>ctA	p.L132L	GHSR_ENST00000427970.1_Silent_p.L132L	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	132					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTGTGATGGTGAGCACCGTGG	0.617000													17	48					9.16793e-09	1.10972e-08	1	1	0
ABCA1	19	broad.mit.edu	37	9	107562255	107562255	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:107562255G>A	ENST00000374736.3	-	36	5182	c.4788C>T	c.(4786-4788)aaC>aaT	p.N1596N		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1596					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCCAGCCCTTGTTATTGAACC	0.493000													29	64					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108339232	108339232	+	Splice_Site	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:108339232G>T	ENST00000263054.6	-	25	3273	c.3265_splice	c.e25-1	p.A1089_splice	SORCS1_ENST00000369698.1_Splice_Site_p.A624_splice|SORCS1_ENST00000344440.6_Splice_Site_p.A1089_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1089						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CACCAGGGGGGCTTGTGGGGG	0.522000													6	53					0.00116845	0.00122977	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107865938	107865938	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:107865938C>G	ENST00000328300.6	+	33	3044	c.2800C>G	c.(2800-2802)Cct>Gct	p.P934A	COL4A5_ENST00000361603.2_Missense_Mutation_p.P934A	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	934	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCAGGACTTCCTGGCCCTAC	0.443000									Alport syndrome with Diffuse Leiomyomatosis				17	56					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	644507	644507	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:644507G>C	ENST00000264935.5	+	10	1723	c.1633G>C	c.(1633-1635)Gac>Cac	p.D545H	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	545					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GAAGAGTGCAGACACTGCAGC	0.388000													30	254					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863026	10863026	+	RNA	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr21:10863026G>T	ENST00000559480.1	+	0	322																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TCTGAGATCTGAGGACACGGC	0.507000													68	627					1.15062e-32	1.80881e-32	1	1	0
SCEL	8796	broad.mit.edu	37	13	78184241	78184241	+	Splice_Site	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:78184241G>T	ENST00000535157.1	+	20	1381	c.1211_splice	c.e20+1	p.G404_splice	SCEL_ENST00000469982.1_3'UTR|SCEL_ENST00000377246.3_Splice_Site_p.G426_splice|SCEL_ENST00000349847.3_Splice_Site_p.G446_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	446	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACTAACCAAGGGTAAGGTTTA	0.393000													27	58					5.61819e-17	8.04767e-17	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128381751	128381751	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:128381751C>A	ENST00000389524.4	+	29	3878	c.3825C>A	c.(3823-3825)agC>agA	p.S1275R	MYO7B_ENST00000409090.1_Missense_Mutation_p.S128R|MYO7B_ENST00000428314.1_Missense_Mutation_p.S1275R|MYO7B_ENST00000409816.2_Missense_Mutation_p.S1275R			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1275	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGGCGAGAGCCAGCGCCAGT	0.652000													4	12					0.00909568	0.00933471	1	1	0
C1QTNF3	114899	broad.mit.edu	37	5	34043085	34043085	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:34043085C>A	ENST00000382065.3	-	1	852	c.146G>T	c.(145-147)cGt>cTt	p.R49L	C1QTNF3_ENST00000231338.7_Intron	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	0						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GGAGCCGCTACGGCCAGTCTG	0.488000													146	271					1.62246e-66	2.65169e-66	1	1	0
TMPRSS6	164656	broad.mit.edu	37	22	37471253	37471253	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:37471253T>A	ENST00000381792.2	-	11	1404	c.1264A>T	c.(1264-1266)Acc>Tcc	p.T422S	TMPRSS6_ENST00000346753.3_Missense_Mutation_p.T431S|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.T422S|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.T422S			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	431	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AAGTTGATGGTGATCCCGGCC	0.657000													27	59					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667853	70667853	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:70667853G>A	ENST00000260126.3	-	4	1770	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.A355V|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.A355V	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	355						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CATTGCAATGGCACAAAGGAG	0.338000													12	62					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921010	247921010	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:247921010G>T	ENST00000408896.2	-	1	972	c.699C>A	c.(697-699)ggC>ggA	p.G233G		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTCTCTGCTTGCCCTGAGTAG	0.517000													8	71					1.12685e-05	1.24609e-05	1	1	0
LRP2	4036	broad.mit.edu	37	2	170003401	170003401	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:170003401C>A	ENST00000263816.3	-	69	12944	c.12659G>T	c.(12658-12660)cGc>cTc	p.R4220L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4220				R -> P (in Ref. 3; AAB02882).	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGGATGTTGCGGTCCTCTCC	0.458000													27	51					1.1804e-14	1.63406e-14	1	1	0
FZD4	8322	broad.mit.edu	37	11	86662526	86662526	+	Silent	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:86662526C>G	ENST00000531380.1	-	2	1577	c.1272G>C	c.(1270-1272)ggG>ggC	p.G424G	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	424					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGTCTTTGTCCCATCCTTTT	0.423000													25	201					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065696	32065696	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:32065696G>A	ENST00000375244.3	-	2	481	c.280C>T	c.(280-282)Cca>Tca	p.P94S	TNXB_ENST00000479795.1_Missense_Mutation_p.P94S|TNXB_ENST00000375247.2_Missense_Mutation_p.P94S			P22105	TENX_HUMAN	tenascin XB	94					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCAAGGACTGGGGGCTCGGTG	0.612000													10	15					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87755881	87755881	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:87755881C>A	ENST00000320005.5	-	0	22				RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTGAAAACCCTCTGTATTTA	0.373000													14	100					1.5739e-10	1.98949e-10	1	1	0
ASB4	51666	broad.mit.edu	37	7	95115357	95115357	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:95115357T>A	ENST00000325885.5	+	1	145	c.74T>A	c.(73-75)cTa>cAa	p.L25Q	ASB4_ENST00000428113.1_Missense_Mutation_p.L25Q|ASB4_ENST00000257621.4_Intron	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	25					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTGAGGCGCTAAAGTCCAAT	0.438000													6	83					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124377625	124377625	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:124377625G>T	ENST00000368909.3	+	38	4703	c.4597G>T	c.(4597-4599)Gtg>Ttg	p.V1533L	DMBT1_ENST00000359586.6_Missense_Mutation_p.V384L|DMBT1_ENST00000330163.4_Missense_Mutation_p.V905L|DMBT1_ENST00000368956.2_Missense_Mutation_p.V905L|DMBT1_ENST00000368955.3_Missense_Mutation_p.V1523L|DMBT1_ENST00000344338.3_Missense_Mutation_p.V1523L|DMBT1_ENST00000338354.3_Missense_Mutation_p.V1533L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1533	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGGGGCACCGTGTGTGATGA	0.592000													87	542					2.77303e-49	4.47302e-49	1	1	0
MUC17	140453	broad.mit.edu	37	7	100677059	100677059	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:100677059C>A	ENST00000306151.4	+	3	2426	c.2362C>A	c.(2362-2364)Cct>Act	p.P788T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	788	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTGCTCTCCTACAACCAC	0.478000													181	552					8.35693e-97	1.36884e-96	1	1	0
ZNF714	148206	broad.mit.edu	37	19	21300858	21300858	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:21300858G>T	ENST00000596143.1	+	5	1713	c.1388G>T	c.(1387-1389)cGa>cTa	p.R463L	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GCTTTCAACCGATCCTCAAAC	0.373000													15	40					0.000422831	0.000452729	1	1	0
MSH2	4436	broad.mit.edu	37	2	47637473	47637473	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:47637473G>T	ENST00000406134.1	+	3	669	c.607G>T	c.(607-609)Gga>Tga	p.G203*	MSH2_ENST00000233146.2_Nonsense_Mutation_p.G203*|MSH2_ENST00000543555.1_Nonsense_Mutation_p.G137*			P43246	MSH2_HUMAN	mutS homolog 2	203			G -> R (in CRC; uncertain pathogenicity; somatic mutation).		B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGTTTTACCCGGAGGAGAGAC	0.458000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				36	155					6.90743e-12	8.96033e-12	1	1	0
MMP2	4313	broad.mit.edu	37	16	55516877	55516877	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:55516877G>A	ENST00000219070.4	+	2	719	c.210G>A	c.(208-210)ctG>ctA	p.L70L	MMP2_ENST00000570308.1_5'UTR|MMP2_ENST00000543485.1_5'UTR|MMP2_ENST00000437642.2_Silent_p.L20L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	70					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			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)	TGTTTGTGCTGAAGGACACAC	0.507000													25	121					0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57147280	57147280	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:57147280G>A	ENST00000535318.2	+	4	622	c.261G>A	c.(259-261)gaG>gaA	p.E87E	CPNE2_ENST00000565874.1_Silent_p.E87E|CPNE2_ENST00000290776.8_Silent_p.E87E|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	87	C2 1.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ACTTCGAGGAGGTACAGAAGC	0.562000													10	86					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45212240	45212240	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:45212240G>T	ENST00000279027.4	-	9	1208	c.1190C>A	c.(1189-1191)cCc>cAc	p.P397H	SLC13A3_ENST00000435032.1_Missense_Mutation_p.P20T|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P315H|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P350H|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P350H|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P315H|SLC13A3_ENST00000464518.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P347H	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	397						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CTTGAGAGAGGGCCTTTGGGA	0.542000													6	90					2.0095e-06	2.27989e-06	1	1	0
PTER	9317	broad.mit.edu	37	10	16526697	16526697	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:16526697G>T	ENST00000378000.1	+	3	560	c.314G>T	c.(313-315)cGa>cTa	p.R105L	PTER_ENST00000535784.2_Missense_Mutation_p.R105L|PTER_ENST00000298942.3_Missense_Mutation_p.R105L|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000423462.2_Missense_Mutation_p.R105L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	105					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GGGATTAGCCGAGACACACAG	0.468000													11	85					7.03913e-09	8.54833e-09	1	1	0
TEX9	374618	broad.mit.edu	37	15	56657841	56657841	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:56657841A>T	ENST00000561221.2	+	2	97	c.92A>T	c.(91-93)gAc>gTc	p.D31V	TEX9_ENST00000558083.2_5'UTR|TEX9_ENST00000537232.1_5'UTR|TEX9_ENST00000352903.2_Missense_Mutation_p.D31V			Q8N6V9	TEX9_HUMAN	testis expressed 9	31										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		CCTGGACCCGACCTCCTCGCC	0.483000													16	105					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102992205	102992205	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:102992205G>A	ENST00000375735.2	+	10	1609	c.1465G>A	c.(1465-1467)Gtt>Att	p.V489I	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.V489I|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V489I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	489	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATAGTTTGGGTTCGCCAGTT	0.373000													6	74					0	0	1	0	0
RGS19	10287	broad.mit.edu	37	20	62705311	62705311	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:62705311C>A	ENST00000395042.1	-	6	815	c.549G>T	c.(547-549)caG>caT	p.Q183H	RGS19_ENST00000332298.5_Missense_Mutation_p.Q183H	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	183	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCGTGTAGATCTGCAGCTGCG	0.642000													33	104					1.08052e-11	1.39921e-11	1	1	0
U2AF1	7307	broad.mit.edu	37	21	44513289	44513289	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr21:44513289C>G	ENST00000459639.1	-	7	1451	c.427G>C	c.(427-429)Ggc>Cgc	p.G143R	U2AF1_ENST00000398137.1_Missense_Mutation_p.G143R|U2AF1_ENST00000291552.4_Missense_Mutation_p.G216R|U2AF1_ENST00000380276.2_Missense_Mutation_p.G216R			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	216	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						ccaccaccgccaccgccaccg	0.577000			Mis		"""CLL, MDS"""								33	56					0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218520046	218520046	+	Translation_Start_Site	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:218520046G>A	ENST00000366929.4	+	1	470	c.3G>A	c.(1-3)atG>atA	p.M1I	TGFB2_ENST00000366930.4_Start_Codon_SNP_p.M1I	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	1					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TTTAAAAAATGCACTACTGTG	0.398000													22	52					0	0	1	0	0
PFKL	5211	broad.mit.edu	37	21	45736381	45736381	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr21:45736381A>T	ENST00000403390.1	+	10	1051	c.1051A>T	c.(1051-1053)Acg>Tcg	p.T351S	PFKL_ENST00000349048.4_Missense_Mutation_p.T304S			P17858	K6PL_HUMAN	phosphofructokinase, liver	304					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCGGGGAGGGACGCCCTCTGC	0.657000													8	40					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110917824	110917824	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:110917824C>T	ENST00000316534.4	-	11	1204	c.1131G>A	c.(1129-1131)tcG>tcA	p.S377S	NPHP1_ENST00000417665.1_Silent_p.S320S|NPHP1_ENST00000355301.4_Silent_p.S258S|NPHP1_ENST00000393272.3_Silent_p.S376S|NPHP1_ENST00000445609.2_Silent_p.S321S			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	376					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	p.S377S(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GACTTGGTCTCGACCTAATCT	0.338000													7	97					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850360	245850360	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:245850360G>A	ENST00000366518.4	+	9	3036	c.2932G>A	c.(2932-2934)Ggc>Agc	p.G978S	KIF26B_ENST00000407071.2_Missense_Mutation_p.G1359S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1359					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCCCATCAAAGGCTGCAAAAT	0.542000													10	39					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139190875	139190875	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:139190875G>A	ENST00000395297.1	-	10	1102	c.932C>T	c.(931-933)aCg>aTg	p.T311M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	311								p.T311M(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CATGTGGGACGTGAGCCAGGC	0.527000										HNSCC(54;0.14)			12	83					0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55783433	55783433	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:55783433C>A	ENST00000321149.3	-	4	660	c.293G>T	c.(292-294)aGa>aTa	p.R98I	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Missense_Mutation_p.R98I|DYX1C1_ENST00000457155.2_Missense_Mutation_p.R98I|DYX1C1_ENST00000348518.3_Missense_Mutation_p.R98I|DYX1C1_ENST00000448430.2_Missense_Mutation_p.R98I	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	98	Mediates interaction with ESR1 and STUB1.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TTCTCTAATTCTTTGCATCAT	0.313000													5	41					0.014758	0.0150212	1	1	0
ZNF251	90987	broad.mit.edu	37	8	145948227	145948227	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:145948227G>C	ENST00000292562.7	-	5	1093	c.818C>G	c.(817-819)aCt>aGt	p.T273S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GAGTCCAAAAGTTTTCCCACA	0.463000													27	148					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30387538	30387538	+	Silent	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:30387538A>G	ENST00000333027.3	+	7	667	c.339A>G	c.(337-339)agA>agG	p.R113R	MTMR3_ENST00000406629.1_Silent_p.R113R|MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000415511.1_3'UTR|MTMR3_ENST00000401950.2_Silent_p.R113R|MTMR3_ENST00000351488.3_Silent_p.R113R	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	113					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GGCTGAAGAGACTGAACAACG	0.418000													21	59					0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177142309	177142309	+	Missense_Mutation	SNP	C	C	A	rs148482187		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:177142309C>A	ENST00000296525.3	-	5	780	c.667G>T	c.(667-669)Gct>Tct	p.A223S	ASB5_ENST00000512254.1_Missense_Mutation_p.A170S	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	223					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AAAATACCAGCATAAAGAAGC	0.363000													7	50					2.7689e-08	3.32447e-08	1	1	0
IGKV1D-13	28902	broad.mit.edu	37	2	90193296	90193296	+	RNA	SNP	A	A	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:90193296A>C	ENST00000390275.2	+	0	403																											TGATGCCTCCAGTTTGGAAAG	0.517000													42	217					0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69548656	69548656	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:69548656G>A	ENST00000261858.2	+	3	739	c.511G>A	c.(511-513)Gat>Aat	p.D171N	GLCE_ENST00000559420.2_Missense_Mutation_p.D107N	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	171					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CTATCACCCCGATGGTGTGTT	0.448000													49	201					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31799355	31799355	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:31799355C>A	ENST00000438447.1	+	0	388				PDZD2_ENST00000282493.3_De_novo_Start_InFrame			O15018	PDZD2_HUMAN	PDZ domain containing 2						cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGTGAGCACCATGCCCATCA	0.657000													9	51					0.000274275	0.000294518	1	1	0
OR56A3	390083	broad.mit.edu	37	11	5969350	5969350	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:5969350C>G	ENST00000329564.6	+	1	781	c.774C>G	c.(772-774)atC>atG	p.I258M		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGCACCATCCTTCTGGTTT	0.522000													76	208					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60088349	60088349	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:60088349T>C	ENST00000397786.2	-	9	1605	c.1529A>G	c.(1528-1530)aAt>aGt	p.N510S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	510					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGTTCGGATATTTGAAAATCT	0.473000													36	107					0	0	1	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577110	158577110	+	Silent	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:158577110T>C	ENST00000361284.1	+	1	882	c.882T>C	c.(880-882)aaT>aaC	p.N294N		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	294			N -> T (in dbSNP:rs857685).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GTCTAAGGAATAGGGCTATAC	0.473000													143	245					0	0	1	0	0
EMP3	2014	broad.mit.edu	37	19	48830794	48830794	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:48830794C>T	ENST00000270221.6	+	3	396	c.95C>T	c.(94-96)cCt>cTt	p.P32L	EMP3_ENST00000596315.1_5'UTR|EMP3_ENST00000597279.1_Missense_Mutation_p.P32L	NM_001425.2	NP_001416.1	P54852	EMP3_HUMAN	epithelial membrane protein 3	32					cell growth|negative regulation of cell proliferation	integral to membrane				lung(1)	1		all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		TGGACTCTCCCTGGGAAAGAG	0.567000													6	36					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579073	55579073	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:55579073G>T	ENST00000333973.2	+	1	220	c.131G>T	c.(130-132)gGc>gTc	p.G44V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCAACCTGGGCATGATTGCA	0.483000													22	403					1.96292e-10	2.47702e-10	1	1	0
TTN	7273	broad.mit.edu	37	2	179404588	179404588	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:179404588A>G	ENST00000589042.1	-	352	98428	c.98204T>C	c.(98203-98205)aTa>aCa	p.I32735T	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I23795T|TTN_ENST00000591111.1_Missense_Mutation_p.I31094T|TTN_ENST00000460472.2_Missense_Mutation_p.I23670T|TTN_ENST00000342992.6_Missense_Mutation_p.I30167T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I23862T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31094	Ig-like 145.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTACATATTGGGAATGG	0.423000													26	76					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167392	140167392	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:140167392C>T	ENST00000458420.3	+	6	1009	c.819C>T	c.(817-819)ggC>ggT	p.G273G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	273	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACCAGCCTGGCTCCGGGAGCA	0.507000										HNSCC(16;0.037)			7	116					0	0	1	0	0
BSG	682	broad.mit.edu	37	19	581373	581373	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:581373A>G	ENST00000333511.3	+	6	921	c.851A>G	c.(850-852)gAg>gGg	p.E284G	BSG_ENST00000545507.2_Missense_Mutation_p.E75G|BSG_ENST00000346916.4_Missense_Mutation_p.E104G|BSG_ENST00000353555.4_Missense_Mutation_p.E168G	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	284	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGGTCAGAGCTACACATT	0.637000													6	68					0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872943	35872943	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:35872943C>T	ENST00000216797.5	-	2	390	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.V97M|NFKBIA_ENST00000557389.1_Missense_Mutation_p.V7M	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	97					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		TCTCCCTTCACCTGGCGGATC	0.582000													13	28					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123340888	123340888	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:123340888A>T	ENST00000253083.4	+	15	1523	c.1398A>T	c.(1396-1398)agA>agT	p.R466S		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	466					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AGCTGCTCAGAAAGGTAGGTG	0.642000													8	29					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612806	48612806	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:48612806C>A	ENST00000328333.8	-	73	6253	c.6146G>T	c.(6145-6147)gGg>gTg	p.G2049V	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2017V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2049	Triple-helical region.		G -> E (in HS-DEB).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCCACACCCCCAGCCCTGCC	0.721000													15	32					4.96729e-08	5.90662e-08	1	1	0
BAZ1A	11177	broad.mit.edu	37	14	35234329	35234329	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:35234329C>A	ENST00000360310.1	-	22	4014	c.3447G>T	c.(3445-3447)gcG>gcT	p.A1149A	BAZ1A_ENST00000382422.2_Silent_p.A1149A|BAZ1A_ENST00000358716.4_Silent_p.A1117A	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1149					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TCTTGCAACGCGCATTCAGTA	0.443000													28	96					5.62743e-28	8.71723e-28	1	1	0
DIO2	1734	broad.mit.edu	37	14	80669370	80669370	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:80669370C>A	ENST00000557010.1	-	4	869	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	DIO2_ENST00000557125.1_Missense_Mutation_p.L36F|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.D198Y|DIO2_ENST00000438257.4_Missense_Mutation_p.D162Y	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	162					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGAGCCTCATCAATGTAGACC	0.552000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	51					6.38683e-12	8.29953e-12	1	1	0
GRAMD1A	57655	broad.mit.edu	37	19	35501099	35501099	+	Splice_Site	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:35501099G>T	ENST00000599564.1	+	6	761	c.690_splice	c.e6+1	p.T230_splice	GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Splice_Site_p.T143_splice|GRAMD1A_ENST00000317991.5_Splice_Site_p.T143_splice|GRAMD1A_ENST00000411896.2_Splice_Site_p.T136_splice			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	143						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGAGACCACGGTGAGCCCGC	0.657000													31	96					6.00712e-18	8.77418e-18	1	1	0
SRP72	6731	broad.mit.edu	37	4	57366814	57366814	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:57366814G>C	ENST00000342756.5	+	18	2512	c.1791G>C	c.(1789-1791)caG>caC	p.Q597H	SRP72_ENST00000510663.1_Missense_Mutation_p.Q536H	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	597					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AGAAGGATCAGATTGGAAAAG	0.443000													7	63					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129901277	129901277	+	Splice_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:129901277C>A	ENST00000368149.2	-	14	1927		c.e14-1		ARHGAP18_ENST00000463225.1_Splice_Site	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGCAACCCCACTATGAGGGAC	0.363000													20	50					4.35082e-09	5.33604e-09	1	1	0
VNN1	8876	broad.mit.edu	37	6	133005574	133005574	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:133005574G>T	ENST00000367928.4	-	6	1272	c.1259C>A	c.(1258-1260)aCc>aAc	p.T420N		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	420					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TTCAAACCTGGTAGAAGCTGT	0.428000													25	130					6.12954e-19	8.98837e-19	1	1	0
TLR4	7099	broad.mit.edu	37	9	120475402	120475402	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:120475402G>T	ENST00000355622.6	+	3	1097	c.996G>T	c.(994-996)tgG>tgT	p.W332C	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.W292C	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	332					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ATTTCGGATGGCAACATTTAG	0.323000													25	77					4.4004e-07	5.08582e-07	1	1	0
PFKFB3	5209	broad.mit.edu	37	10	6268191	6268191	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:6268191A>T	ENST00000379775.4	+	14	1708	c.1378A>T	c.(1378-1380)Aat>Tat	p.N460Y	PFKFB3_ENST00000540253.1_Missense_Mutation_p.N474Y|PFKFB3_ENST00000379785.1_Missense_Mutation_p.N460Y|PFKFB3_ENST00000317350.4_Missense_Mutation_p.N460Y|PFKFB3_ENST00000379789.4_Missense_Mutation_p.N440Y|PFKFB3_ENST00000360521.2_Missense_Mutation_p.N460Y|PFKFB3_ENST00000379782.3_Missense_Mutation_p.N460Y|PFKFB3_ENST00000536985.1_3'UTR	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	460	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CATGAGACGCAATAGTGTCAC	0.547000													60	125					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947340	237947340	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:237947340C>G	ENST00000366574.2	+	90	12645	c.12328C>G	c.(12328-12330)Ccc>Gcc	p.P4110A	RYR2_ENST00000542537.1_Missense_Mutation_p.P4094A|RYR2_ENST00000360064.6_Missense_Mutation_p.P4116A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4110					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAGCACATGCCCAACGATAC	0.522000													28	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179467180	179467180	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:179467180T>A	ENST00000589042.1	-	283	55173	c.54949A>T	c.(54949-54951)Act>Tct	p.T18317S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9377S|TTN_ENST00000591111.1_Missense_Mutation_p.T16676S|TTN_ENST00000460472.2_Missense_Mutation_p.T9252S|TTN_ENST00000342992.6_Missense_Mutation_p.T15749S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T9444S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16676	Fibronectin type-III 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGTCAGTAGTACCTTCT	0.413000													16	36					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170052	20170052	+	RNA	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:20170052C>T	ENST00000338912.5	-	0	219																											GTGCTGCCATCACTAGGGCAC	0.552000													19	162					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436917	72436917	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:72436917G>T	ENST00000392627.1	+	2	2263	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Missense_Mutation_p.Q19H|GPRC5C_ENST00000392629.2_Missense_Mutation_p.Q346H	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	334						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGAAGGGTCAGAGCATGTTCG	0.587000													13	64					7.03913e-09	8.54833e-09	1	1	0
NES	10763	broad.mit.edu	37	1	156639120	156639120	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:156639120C>T	ENST00000368223.3	-	4	4992	c.4860G>A	c.(4858-4860)gaG>gaA	p.E1620E		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1620	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTCCTAGTCCTCCCCTGAGG	0.607000													34	52					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36130358	36130358	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:36130358C>G	ENST00000303965.4	-	21	3926	c.3437G>C	c.(3436-3438)tGc>tCc	p.C1146S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1146	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GATATATTTGCATCCTAAACC	0.289000													8	27					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120471798	120471798	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:120471798C>A	ENST00000256646.2	-	23	3912	c.3693G>T	c.(3691-3693)cgG>cgT	p.R1231R		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1231	EGF-like 32; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGGGGACCCCGGGCACAGT	0.507000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				11	67					1.33987e-11	1.72902e-11	1	1	0
OR8B12	219858	broad.mit.edu	37	11	124413497	124413497	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:124413497G>T	ENST00000306842.2	-	1	78	c.54C>A	c.(52-54)caC>caA	p.H18Q		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H18Q(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GTCCCGGCTGGTGGGTTAAGC	0.542000													11	97					4.3838e-07	5.08582e-07	1	1	0
OR9Q2	219957	broad.mit.edu	37	11	57958040	57958040	+	Silent	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:57958040T>C	ENST00000311591.3	+	1	135	c.78T>C	c.(76-78)ccT>ccC	p.P26P		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GGAGGGTTCCTCTCTTCCTCA	0.493000													14	81					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939580	47939580	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:47939580T>A	ENST00000402813.3	-	10	1280	c.1138A>T	c.(1138-1140)Atc>Ttc	p.I380F	CNGA1_ENST00000358519.4_Missense_Mutation_p.I311F|CNGA1_ENST00000544810.1_Missense_Mutation_p.I311F|CNGA1_ENST00000514170.1_Missense_Mutation_p.I311F|CNGA1_ENST00000420489.2_Missense_Mutation_p.I311F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	311					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTCCAGTGGATAATGATGACG	0.378000													23	81					0	0	1	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326832	89326832	+	RNA	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:89326832C>A	ENST00000483158.1	-	0	227																											GGAGCCTGGCCAGGTTTCTGT	0.582000													31	135					7.16923e-06	7.99935e-06	1	1	0
BTF3L4	91408	broad.mit.edu	37	1	52530608	52530608	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:52530608G>C	ENST00000313334.8	+	3	434	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	BTF3L4_ENST00000484036.1_Missense_Mutation_p.E56Q|BTF3L4_ENST00000533836.1_3'UTR|BTF3L4_ENST00000489308.2_Missense_Mutation_p.E56Q|BTF3L4_ENST00000472944.2_5'UTR	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	56	NAC-A/B.									endometrium(2)|kidney(1)|large_intestine(2)	5						TGGTATTGAAGAGGTATGATC	0.358000													14	28					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810643	31810643	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:31810643C>G	ENST00000446923.2	+	7	2723	c.2332C>G	c.(2332-2334)Cca>Gca	p.P778A	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.P794A|ZEB1_ENST00000361642.5_Missense_Mutation_p.P795A|ZEB1_ENST00000542815.3_Missense_Mutation_p.P727A|ZEB1_ENST00000560721.2_Missense_Mutation_p.P774A	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	794					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.P794S(2)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAATGTAATCCCACCAAGTGC	0.453000													15	141					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859493	132859493	+	RNA	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:132859493G>A	ENST00000434551.1	+	0	65					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		AACGAATCCTGCATTAAAACT	0.448000													13	35					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102332601	102332601	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:102332601G>T	ENST00000395065.3	-	18	1626	c.1525C>A	c.(1525-1527)Cta>Ata	p.L509I	NXF3_ENST00000425644.1_Missense_Mutation_p.L181I|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	509						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTGGGCACTAGGGTGAACAAG	0.557000													46	76					7.88023e-25	1.19818e-24	1	1	0
HCN2	610	broad.mit.edu	37	19	603810	603810	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:603810C>T	ENST00000251287.2	+	2	952	c.899C>T	c.(898-900)cCc>cTc	p.P300L		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	300					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCATCCCCGTGGACTAC	0.557000													21	42					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154680542	154680542	+	Silent	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:154680542C>G	ENST00000271915.3	-	8	2421	c.2106G>C	c.(2104-2106)gtG>gtC	p.V702V	KCNN3_ENST00000361147.4_Silent_p.V397V|KCNN3_ENST00000358505.2_Silent_p.V389V|KCNN3_ENST00000515643.1_5'UTR	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	707						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGTGGTGCCCACTGCCACGC	0.617000													21	170					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94528619	94528619	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:94528619T>A	ENST00000330836.5	-	3	1198	c.1067A>T	c.(1066-1068)aAt>aTt	p.N356I	DDX24_ENST00000555054.1_Missense_Mutation_p.N313I|DDX24_ENST00000544005.1_Missense_Mutation_p.N106I	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	356	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTCCTCCTCATTCTCATTCTG	0.483000													34	162					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24493035	24493035	+	Splice_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:24493035C>A	ENST00000264463.4	-	10	2023		c.e10-1		CDH10_ENST00000502921.1_Splice_Site	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTGTATTAGCTGCAGAAAAA	0.333000										HNSCC(23;0.051)			42	201					1.57019e-19	2.33017e-19	1	1	0
MUC16	94025	broad.mit.edu	37	19	9006696	9006696	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:9006696C>G	ENST00000397910.4	-	44	39755	c.39552G>C	c.(39550-39552)atG>atC	p.M13184I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13186	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGTGACCCATGTTCTCCT	0.512000													55	130					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64982678	64982678	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:64982678A>T	ENST00000394156.3	-	13	2360	c.1907T>A	c.(1906-1908)tTa>tAa	p.L636*	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	0					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGGTTCCATTAAGCTTGGGCA	0.428000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			7	11					0	0	1	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12952858	12952858	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:12952858C>A	ENST00000235347.4	-	4	1393	c.1314G>T	c.(1312-1314)atG>atT	p.M438I		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	438										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGTGTACGCATCAGCTCAG	0.542000													35	78					1.8453e-21	2.76608e-21	1	1	0
WBP1L	54838	broad.mit.edu	37	10	104569675	104569675	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:104569675C>A	ENST00000369889.4	+	3	298	c.156C>A	c.(154-156)atC>atA	p.I52I	WBP1L_ENST00000448841.1_Silent_p.I73I	NM_017787.4	NP_060257.4	Q9NX94	OPA1L_HUMAN	WW domain binding protein 1-like	52						integral to membrane											GGACCATCATCATCATCCTGA	0.607000													21	137					1.10513e-12	1.45134e-12	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576930	33576930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:33576930C>T	ENST00000504830.1	-	19	3536	c.3201G>A	c.(3199-3201)tgG>tgA	p.W1067*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.W982*	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1067	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGCTATCTTGCCACTGTTTCC	0.547000										HNSCC(64;0.19)			16	124					0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30875724	30875724	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:30875724A>C	ENST00000454381.3	-	10	999	c.953T>G	c.(952-954)cTg>cGg	p.L318R	GADL1_ENST00000282538.5_Missense_Mutation_p.L318R			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	318					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GATGCCATGCAGAAGCTTGCG	0.408000													36	68					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167341272	167341272	+	Splice_Site	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:167341272G>T	ENST00000367862.5	+	5	603	c.369_splice	c.e5+1	p.G123_splice	POU2F1_ENST00000429375.2_Splice_Site_p.G134_splice|POU2F1_ENST00000541643.3_Splice_Site_p.G111_splice|POU2F1_ENST00000367866.2_Splice_Site_p.G134_splice|POU2F1_ENST00000452019.1_Splice_Site_p.G111_splice|POU2F1_ENST00000420254.3_Splice_Site_p.G111_splice|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	111					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CAGATAACTGGGGTAAGTGTT	0.493000													117	232					8.09351e-62	1.31697e-61	1	1	0
RBM47	54502	broad.mit.edu	37	4	40438614	40438614	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:40438614C>A	ENST00000381793.2	-	4	1570	c.1174G>T	c.(1174-1176)Ggg>Tgg	p.G392W	RBM47_ENST00000381795.6_Intron|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000514014.1_Missense_Mutation_p.G354W|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.G392W			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	392						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCCCTAGGCCCTGGGGCTCTG	0.507000													70	187					2.32478e-39	3.70965e-39	1	1	0
NMNAT1	64802	broad.mit.edu	37	1	10041150	10041150	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:10041150G>C	ENST00000377205.1	+	4	505	c.361G>C	c.(361-363)Gaa>Caa	p.E121Q	NMNAT1_ENST00000403197.1_Missense_Mutation_p.E121Q	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	121					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTACTCTAGAAAGGCCTGG	0.393000													12	62					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174292	207174292	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:207174292G>T	ENST00000374423.3	+	5	5426	c.5040G>T	c.(5038-5040)ctG>ctT	p.L1680L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1680							nucleic acid binding|zinc ion binding	p.L1680L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTCACCGACTGCAGAAAGCTC	0.413000													28	68					1.30897e-18	1.91569e-18	1	1	0
GABRB3	2562	broad.mit.edu	37	15	26806214	26806214	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:26806214G>T	ENST00000541819.2	-	9	1215	c.1113C>A	c.(1111-1113)gtC>gtA	p.V371V	GABRB3_ENST00000311550.5_Silent_p.V315V|GABRB3_ENST00000400188.3_Silent_p.V244V|GABRB3_ENST00000299267.4_Silent_p.V315V|GABRB3_ENST00000545868.1_Silent_p.V230V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	315					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGAACACAAAGACGAAGCAGC	0.488000													23	106					1.55795e-14	2.14869e-14	1	1	0
LETM1	3954	broad.mit.edu	37	4	1816294	1816294	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:1816294C>G	ENST00000302787.2	-	14	2373	c.2077G>C	c.(2077-2079)Gag>Cag	p.E693Q		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	693	EF-hand.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCCACCAGCTCAATCACCTAC	0.592000													3	23					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642109	57642109	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:57642109C>A	ENST00000254181.4	+	4	2520	c.2066C>A	c.(2065-2067)cCa>cAa	p.P689Q	USP29_ENST00000598197.1_Missense_Mutation_p.P689Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	689					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTCAACATCCAGAACTTCAG	0.433000													20	74					8.34094e-07	9.53617e-07	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61537321	61537321	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:61537321C>A	ENST00000266070.4	-	6	1831	c.1506G>T	c.(1504-1506)acG>acT	p.T502T	DIDO1_ENST00000370368.1_Silent_p.T502T|DIDO1_ENST00000370366.1_Silent_p.T502T|DIDO1_ENST00000354665.4_Silent_p.T502T|DIDO1_ENST00000395343.1_Silent_p.T502T|DIDO1_ENST00000266071.5_Silent_p.T502T|DIDO1_ENST00000395335.2_Silent_p.T502T|DIDO1_ENST00000370371.4_Silent_p.T502T|DIDO1_ENST00000395340.1_Silent_p.T502T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	502					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCACGACGGCGTGCTGCTCT	0.532000													48	193					4.86159e-25	7.42243e-25	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995240	140995240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:140995240G>T	ENST00000285879.4	+	4	2336	c.2050G>T	c.(2050-2052)Gag>Tag	p.E684*	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	684							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTGCTCCTGAGGGGGAGGA	0.572000										HNSCC(15;0.026)			79	87					5.02462e-34	7.93249e-34	1	1	0
EPRS	2058	broad.mit.edu	37	1	220162124	220162124	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:220162124C>A	ENST00000366923.3	-	19	2852	c.2583G>T	c.(2581-2583)aaG>aaT	p.K861N		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	861	3 X 57 AA approximate repeats.|WHEP-TRS 2.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TATACTGAGCCTTCAGGGACA	0.368000													48	112					9.58827e-17	1.36817e-16	1	1	0
ZNF41	7592	broad.mit.edu	37	X	47308385	47308385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:47308385G>A	ENST00000377065.4	-	5	1423	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	ZNF41_ENST00000313116.7_Nonsense_Mutation_p.Q262*|ZNF41_ENST00000397050.2_Nonsense_Mutation_p.Q272*	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	304						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGAATTTTCTGATGGTGGGTG	0.418000													9	132					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190234012	190234012	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:190234012C>T	ENST00000367462.3	-	4	832	c.601G>A	c.(601-603)Gca>Aca	p.A201T	FAM5C_ENST00000534846.1_Missense_Mutation_p.A99T|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		201						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCAGTGGATGCAATTTGAATG	0.408000													11	116					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129777539	129777539	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:129777539T>A	ENST00000421865.2	+	48	6816	c.6767T>A	c.(6766-6768)gTg>gAg	p.V2256E		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2256	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCCAGCATTGTGCCCAGCACA	0.493000													77	263					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15644338	15644338	+	Splice_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:15644338C>A	ENST00000281513.5	-	11	911		c.e11-1		NBAS_ENST00000441750.1_Splice_Site	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence											NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCTTCGGTACCTGCAAAATAA	0.348000													20	57					0.0438628	0.044462	1	1	0
UMOD	7369	broad.mit.edu	37	16	20357606	20357606	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:20357606C>G	ENST00000396134.2	-	6	1246	c.1123G>C	c.(1123-1125)Gtg>Ctg	p.V375L	UMOD_ENST00000424589.1_Missense_Mutation_p.V375L|UMOD_ENST00000302509.4_Missense_Mutation_p.V342L|UMOD_ENST00000396138.4_Missense_Mutation_p.V391L|UMOD_ENST00000396142.2_Missense_Mutation_p.V342L|UMOD_ENST00000570689.1_Missense_Mutation_p.V342L	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	342	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCCAGCGACACCTTCATGTCA	0.557000													14	149					0	0	1	0	0
LAS1L	81887	broad.mit.edu	37	X	64738201	64738201	+	Silent	SNP	T	T	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:64738201T>G	ENST00000374811.3	-	12	1633	c.1593A>C	c.(1591-1593)acA>acC	p.T531T	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374804.5_Silent_p.T472T|LAS1L_ENST00000374807.5_Silent_p.T514T	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	531						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GGCTGTCTAGTGTATATGGAG	0.547000													48	65					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68617469	68617469	+	Splice_Site	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:68617469C>T	ENST00000423218.2	-	18	2417	c.2322_splice	c.e18+1	p.S774_splice	ITGA11_ENST00000315757.7_Splice_Site_p.S774_splice			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	774					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CGAGATGTACCGAGACTCTGA	0.622000													11	67					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72985578	72985578	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:72985578G>A	ENST00000305632.5	-	6	1060	c.819C>T	c.(817-819)ttC>ttT	p.F273F	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.F237F	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	273										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCTTTAGTTCGAAGGCTCGCA	0.557000													12	59					0	0	1	0	0
KLHL17	339451	broad.mit.edu	37	1	898496	898496	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:898496G>T	ENST00000338591.3	+	7	1157	c.1050G>T	c.(1048-1050)ggG>ggT	p.G350G		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	350	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGGCGGCGGGAGCCTGTTTG	0.711000													5	19					4.096e-09	5.03184e-09	1	1	0
SEL1L	6400	broad.mit.edu	37	14	81972450	81972450	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:81972450T>A	ENST00000336735.4	-	4	592	c.476A>T	c.(475-477)tAc>tTc	p.Y159F	SEL1L_ENST00000555824.1_Missense_Mutation_p.Y159F	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	159	Fibronectin type-II.|Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ATCTGCTTTGTAGTCATAGGT	0.433000													48	154					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51613089	51613089	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:51613089G>T	ENST00000371117.3	-	58	9600	c.9325C>A	c.(9325-9327)Cac>Aac	p.H3109N	PKHD1_ENST00000340994.4_Missense_Mutation_p.H3109N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3109					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGCACTTGTGGCCTCGGATG	0.488000													95	231					1.59803e-59	2.59461e-59	1	1	0
DCAF6	55827	broad.mit.edu	37	1	167962666	167962666	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:167962666G>T	ENST00000367840.3	+	7	985	c.891G>T	c.(889-891)gaG>gaT	p.E297D	DCAF6_ENST00000312263.6_Missense_Mutation_p.E297D|DCAF6_ENST00000367843.3_Missense_Mutation_p.E297D|DCAF6_ENST00000432587.2_Missense_Mutation_p.E266D	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	297					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTGCGGAAGAGAGAAGAGAAG	0.483000													33	50					4.3181e-19	6.38253e-19	1	1	0
OR1C1	26188	broad.mit.edu	37	1	247921636	247921636	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:247921636G>C	ENST00000408896.2	-	1	346	c.73C>G	c.(73-75)Cac>Gac	p.H25D		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GACAGGAGGTGCTGCTGCTCT	0.453000													6	57					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152332874	152332874	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:152332874C>A	ENST00000440973.1	+	7	1550	c.1180C>A	c.(1180-1182)Cgc>Agc	p.R394S	ESR1_ENST00000206249.3_Missense_Mutation_p.R394S|ESR1_ENST00000443427.1_Missense_Mutation_p.R394S|ESR1_ENST00000338799.5_Missense_Mutation_p.R394S|ESR1_ENST00000544394.1_Missense_Mutation_p.R221S|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.R282S	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	394	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TCTCGTCTGGCGCTCCATGGA	0.493000													27	125					2.44723e-14	3.36268e-14	1	1	0
FNTA	2339	broad.mit.edu	37	8	42939891	42939891	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:42939891T>C	ENST00000529687.1	+	8	1319	c.431T>C	c.(430-432)cTg>cCg	p.L144P	FNTA_ENST00000342116.4_Missense_Mutation_p.L228P|FNTA_ENST00000302279.3_Missense_Mutation_p.L295P			P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	295					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TATCCTAATCTGTTAAATCAA	0.348000													9	80					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921081	247921081	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:247921081G>C	ENST00000408896.2	-	1	901	c.628C>G	c.(628-630)Ccc>Gcc	p.P210A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAGACAAGGGGCGTGAGAGCC	0.473000													19	54					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274054	10274054	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:10274054A>T	ENST00000396573.2	-	3	524	c.215T>A	c.(214-216)cTg>cAg	p.L72Q	GRIN2A_ENST00000562109.1_Missense_Mutation_p.L72Q|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L72Q|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L72Q|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L72Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	72					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTCATCAGCAGAGCTACCAC	0.657000													48	117					0	0	1	0	0
RRP8	23378	broad.mit.edu	37	11	6622514	6622514	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:6622514C>A	ENST00000254605.6	-	3	899	c.782G>T	c.(781-783)gGg>gTg	p.G261V	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	261					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						ACTGCTGGGCCCTGAGTACAA	0.602000													9	22					0.00448238	0.00464515	1	1	0
KSR2	283455	broad.mit.edu	37	12	118198878	118198878	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:118198878C>A	ENST00000425217.1	-	4	891	c.837G>T	c.(835-837)ctG>ctT	p.L279L	KSR2_ENST00000339824.5_Silent_p.L308L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	308	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTCCGATGCAGCGCGGTGA	0.652000													21	160					2.32416e-17	3.36821e-17	1	1	0
LRP6	4040	broad.mit.edu	37	12	12332775	12332775	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:12332775T>C	ENST00000261349.4	-	7	1590	c.1514A>G	c.(1513-1515)tAc>tGc	p.Y505C	LRP6_ENST00000543091.1_Missense_Mutation_p.Y505C	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	505	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATCTCCCCAGTATATTTTGCC	0.393000													31	91					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202571038	202571038	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:202571038G>T	ENST00000367267.1	-	6	973	c.781C>A	c.(781-783)Caa>Aaa	p.Q261K	SYT2_ENST00000367268.4_Missense_Mutation_p.Q261K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	261	Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TCCCCGCCTTGCAGGTCTCTC	0.532000													64	159					4.83677e-39	7.70147e-39	1	1	0
IL16	3603	broad.mit.edu	37	15	81584927	81584927	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:81584927G>T	ENST00000394660.2	+	12	1811	c.1451G>T	c.(1450-1452)gGg>gTg	p.G484V	IL16_ENST00000302987.4_Missense_Mutation_p.G484V	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	484					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGTTGGCACGGGCGGCCCACC	0.557000													8	80					0.00307968	0.00320045	1	1	0
SPACA3	124912	broad.mit.edu	37	17	31322461	31322461	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:31322461G>T	ENST00000269053.3	+	2	139	c.69G>T	c.(67-69)gtG>gtT	p.V23V	SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_5'UTR	NM_173847.3	NP_776246.1	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	23					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTCCTTCTGTGAGTGGACCAC	0.622000													39	104					2.95478e-19	4.37614e-19	1	1	0
C16orf62	57020	broad.mit.edu	37	16	19592847	19592847	+	Splice_Site	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:19592847G>T	ENST00000438132.3	+	7	826	c.777_splice	c.e7-1	p.G260_splice	C16orf62_ENST00000251143.5_Splice_Site_p.G171_splice|C16orf62_ENST00000543152.1_5'UTR|C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000542263.1_Splice_Site_p.G260_splice|C16orf62_ENST00000448695.1_Splice_Site_p.G49_splice|C16orf62_ENST00000417362.2_Splice_Site_p.G171_splice	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	171						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CTCCCCACAGGGTTCCCAAAA	0.483000													48	145					1.05386e-31	1.64971e-31	1	1	0
SLC24A4	123041	broad.mit.edu	37	14	92909797	92909797	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:92909797C>T	ENST00000532405.1	+	7	862	c.636C>T	c.(634-636)atC>atT	p.I212I	SLC24A4_ENST00000298877.1_Silent_p.I195I|SLC24A4_ENST00000351924.5_Silent_p.I195I|SLC24A4_ENST00000393265.2_Silent_p.I148I|SLC24A4_ENST00000531433.1_Silent_p.I212I			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	212						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		ACTACACCATCTCTGTCATCG	0.647000													16	31					0	0	1	0	0
C12orf5	57103	broad.mit.edu	37	12	4460459	4460459	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:4460459G>T	ENST00000179259.4	+	5	364	c.297G>T	c.(295-297)gcG>gcT	p.A99A	C12orf5_ENST00000537251.1_3'UTR	NM_020375.2	NP_065108.1	Q9NQ88	TIGAR_HUMAN	chromosome 12 open reading frame 5	99						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			AAGGCAAAGCGCTAAGTGAGC	0.478000													14	88					1.3612e-06	1.55148e-06	1	1	0
RUNX1	861	broad.mit.edu	37	21	36421187	36421187	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr21:36421187C>G	ENST00000300305.3	-	1	454	c.10G>C	c.(10-12)Gac>Cac	p.D4H	RUNX1_ENST00000437180.1_Missense_Mutation_p.D4H|RUNX1_ENST00000486278.2_5'UTR			Q01196	RUNX1_HUMAN	runt-related transcription factor 1	0					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						AATATGCTGTCTGAAGCCATC	0.458000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								28	209					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844736	5844736	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:5844736C>T	ENST00000303225.6	-	3	749	c.115G>A	c.(115-117)Gac>Aac	p.D39N	FUT3_ENST00000458379.2_Missense_Mutation_p.D39N|FUT3_ENST00000589918.1_Missense_Mutation_p.D39N|FUT3_ENST00000589620.1_Missense_Mutation_p.D39N	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	39					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GTGGCATCGTCTCGGGACACA	0.627000													9	27					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134659602	134659602	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:134659602G>T	ENST00000368586.5	-	44	6497	c.6397C>A	c.(6397-6399)Ctg>Atg	p.L2133M	TTC40_ENST00000263170.5_Missense_Mutation_p.L294M	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	294										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGGGCGCCCAGGCTGGTGGTG	0.667000													12	9					5.50884e-06	6.15596e-06	1	1	0
TECPR2	9895	broad.mit.edu	37	14	102916192	102916192	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:102916192A>T	ENST00000359520.7	+	14	3528	c.3302A>T	c.(3301-3303)aAg>aTg	p.K1101M	TECPR2_ENST00000558678.1_Missense_Mutation_p.K1101M	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1101							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CACGTCGCTAAGGGAAGTCTC	0.473000													37	88					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126369627	126369627	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:126369627T>A	ENST00000394329.3	+	9	7469	c.7456T>A	c.(7456-7458)Ttt>Att	p.F2486I	FAT4_ENST00000335110.5_Missense_Mutation_p.F784I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2486	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCCTTTGTCTTTGCGGTTAC	0.358000													41	124					0	0	1	0	0
UCP1	7350	broad.mit.edu	37	4	141484334	141484334	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:141484334G>C	ENST00000262999.3	-	4	633	c.558C>G	c.(556-558)atC>atG	p.I186M		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	186					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					TACAATTGATGATGACACTTC	0.338000													30	83					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70291430	70291430	+	Splice_Site	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:70291430G>T	ENST00000310961.5	+	6	740		c.e6-1		LRRC7_ENST00000415775.2_Splice_Site|LRRC7_ENST00000370958.1_Splice_Site|LRRC7_ENST00000035383.5_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCACATTTTAGGTGTACAAGA	0.269000													10	49					3.86212e-05	4.22669e-05	1	1	0
GAK	2580	broad.mit.edu	37	4	864613	864613	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:864613T>C	ENST00000314167.4	-	19	2244	c.2134A>G	c.(2134-2136)Agg>Ggg	p.R712G	GAK_ENST00000511163.1_Missense_Mutation_p.R633G|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	712					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGCCTGTCCCTGGGCTCCACC	0.552000													20	87					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26690338	26690338	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:26690338C>T	ENST00000272371.2	-	34	4248	c.4122G>A	c.(4120-4122)aaG>aaA	p.K1374K	OTOF_ENST00000339598.3_Silent_p.K607K|OTOF_ENST00000338581.6_Silent_p.K607K|OTOF_ENST00000403946.3_Silent_p.K1374K|OTOF_ENST00000402415.3_Silent_p.K684K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1374					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCCTTGCCTTCTCCTTGC	0.562000													11	46					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76891513	76891513	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:76891513G>C	ENST00000409709.3	+	22	2952	c.2680G>C	c.(2680-2682)Gag>Cag	p.E894Q	MYO7A_ENST00000458637.2_Missense_Mutation_p.E894Q|MYO7A_ENST00000409893.1_Missense_Mutation_p.E894Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.E883Q	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	894					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGGAGGCCGAGCGCAAGCA	0.617000													4	31					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868710	57868710	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:57868710G>T	ENST00000391705.3	+	4	1757	c.1473G>T	c.(1471-1473)gtG>gtT	p.V491V	ZNF304_ENST00000282286.5_Silent_p.V491V|ZNF304_ENST00000443917.2_Silent_p.V538V|ZNF304_ENST00000598744.1_Silent_p.V449V	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACACACTTGTGCAACACCAAA	0.453000													29	117					9.39395e-14	1.26964e-13	1	1	0
CFHR5	81494	broad.mit.edu	37	1	196963358	196963358	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:196963358G>A	ENST00000367414.5	+	4	707	c.651G>A	c.(649-651)ggG>ggA	p.G217G	CFHR5_ENST00000256785.4_Silent_p.G193G	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	193	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCAATTTGGGTGGTCACCTA	0.318000													13	153					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819651	50819651	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:50819651C>A	ENST00000374115.3	+	1	1305	c.865C>A	c.(865-867)Ccc>Acc	p.P289T	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	289					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CATGCTAGACCCCTACATTGC	0.652000													9	79					7.48243e-07	8.58109e-07	1	1	0
VARS2	57176	broad.mit.edu	37	6	30893361	30893361	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:30893361C>T	ENST00000321897.5	+	27	3458	c.2826C>T	c.(2824-2826)ttC>ttT	p.F942F	VARS2_ENST00000542001.1_Silent_p.F802F|VARS2_ENST00000416670.2_Silent_p.F942F|VARS2_ENST00000541562.1_Silent_p.F972F|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	942					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						AGGGCCTCTTCGAGGCCTTCT	0.667000													8	42					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57828976	57828976	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:57828976G>T	ENST00000371030.2	+	5	4212	c.4212G>T	c.(4210-4212)gaG>gaT	p.E1404D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1404						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGCTGGTGAGCATGGTGACT	0.478000													34	110					4.65686e-17	6.6965e-17	1	1	0
MYEF2	50804	broad.mit.edu	37	15	48451091	48451091	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:48451091A>T	ENST00000324324.7	-	7	1025	c.746T>A	c.(745-747)cTa>cAa	p.L249Q	MYEF2_ENST00000557868.1_5'UTR|MYEF2_ENST00000267836.6_Missense_Mutation_p.L249Q	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	249	RRM 2.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CACTTCCTTTAGCTTCTTCCA	0.368000													7	107					0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97157671	97157671	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:97157671C>G	ENST00000287020.5	-	2	587	c.488G>C	c.(487-489)gGc>gCc	p.G163A		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	163					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CAGCTCCGCGCCCACCAGCTC	0.592000													7	38					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97587138	97587138	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:97587138C>A	ENST00000369261.4	+	11	2206	c.1843C>A	c.(1843-1845)Cac>Aac	p.H615N	KLHL32_ENST00000544166.1_Missense_Mutation_p.H171N|KLHL32_ENST00000536676.1_Missense_Mutation_p.H579N|KLHL32_ENST00000539200.1_Missense_Mutation_p.H546N	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	615										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AGTGCCTCATCACAGGATTGG	0.468000													16	108					3.45872e-05	3.7908e-05	1	1	0
RFTN2	130132	broad.mit.edu	37	2	198498550	198498550	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:198498550C>T	ENST00000295049.3	-	4	1146	c.610G>A	c.(610-612)Ggg>Agg	p.G204R		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	204						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GATGACTGCCCACTTAACGTC	0.418000													39	140					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187679	12187679	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:12187679G>T	ENST00000439326.3	+	4	1919	c.1744G>T	c.(1744-1746)Gac>Tac	p.D582Y	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						ATGCACAGAGGACAGAATGCC	0.398000													9	6					1.12685e-05	1.24609e-05	1	1	0
IGKV3-11	28914	broad.mit.edu	37	2	89326822	89326822	+	RNA	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:89326822G>T	ENST00000483158.1	-	0	237																											GAGGAGCCTGGGAGCCTGGCC	0.577000													37	131					1.67305e-13	2.23274e-13	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	40996131	40996131	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:40996131C>A	ENST00000352632.3	+	4	557	c.471C>A	c.(469-471)gtC>gtA	p.V157V	SPTBN4_ENST00000338932.3_Silent_p.V157V|SPTBN4_ENST00000344104.3_Silent_p.V157V|SPTBN4_ENST00000598249.1_Silent_p.V157V|SPTBN4_ENST00000595535.1_Silent_p.V157V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	157	Actin-binding.|CH 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGGCTGGTCTGGACCATCA	0.597000													12	56					9.31168e-06	1.03432e-05	1	1	0
ABCA3	21	broad.mit.edu	37	16	2347836	2347836	+	Silent	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:2347836C>G	ENST00000301732.5	-	16	2683	c.1983G>C	c.(1981-1983)cgG>cgC	p.R661R	ABCA3_ENST00000382381.3_Silent_p.R603R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	661	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGAAGCGGCTCCGTGAGTTCC	0.622000													17	147					0	0	1	0	0
VPS28	51160	broad.mit.edu	37	8	145649245	145649245	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:145649245C>A	ENST00000292510.4	-	10	698	c.609G>T	c.(607-609)caG>caT	p.Q203H	VPS28_ENST00000529182.1_3'UTR|VPS28_ENST00000526054.1_Missense_Mutation_p.Q203H|VPS28_ENST00000377348.2_3'UTR	NM_016208.2	NP_057292.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	203	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGAACAGCATCTGACGCACCT	0.637000													25	99					1.64293e-13	2.1965e-13	1	1	0
CLVS2	134829	broad.mit.edu	37	6	123377059	123377059	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:123377059G>T	ENST00000275162.4	+	5	2119	c.784G>T	c.(784-786)Gca>Tca	p.A262S	CLVS2_ENST00000368438.1_Missense_Mutation_p.A116S	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	262					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGGGACATGGGCAAGAACACT	0.478000													61	129					2.93687e-30	4.5877e-30	1	1	0
RGL3	57139	broad.mit.edu	37	19	11508197	11508197	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:11508197G>A	ENST00000380456.3	-	17	1886	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	RGL3_ENST00000393423.3_Missense_Mutation_p.A614V|RGL3_ENST00000568628.1_5'UTR	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	608					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCTCTGCTGCGCCGGGAGGGG	0.677000													10	21					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601615	58601615	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:58601615G>C	ENST00000240727.6	-	2	419	c.20C>G	c.(19-21)gCg>gGg	p.A7G	ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A7G|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A63G	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	7					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGAGGCAAACGCCTTCTCCAA	0.617000													18	74					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614885	3614885	+	RNA	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:3614885A>T	ENST00000301749.7	-	0	558				NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGCGGGGCATCCGGTGTCC	0.672000													7	35					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774523	40774523	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:40774523T>C	ENST00000602553.1	-	5	1046	c.752A>G	c.(751-753)aAc>aGc	p.N251S	ZNF658_ENST00000377626.3_Missense_Mutation_p.N251S|ZNF658_ENST00000441795.1_Missense_Mutation_p.N249S			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTTATCAAAGTTTTTTCTAAA	0.358000													46	130					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132047113	132047113	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:132047113G>A	ENST00000336375.5	+	2	213	c.123G>A	c.(121-123)gtG>gtA	p.V41V	ACPP_ENST00000351273.7_Silent_p.V41V|ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000475741.1_Silent_p.V41V	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	41						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACTTTCAGGTGTTTCGGCATG	0.428000													21	52					0	0	1	0	0
GPR119	139760	broad.mit.edu	37	X	129518924	129518924	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:129518924C>T	ENST00000276218.2	-	1	587	c.498G>A	c.(496-498)gtG>gtA	p.V166V		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	166						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGAGGGTCAGCACGAAGTGAG	0.532000													26	49					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11576218	11576218	+	Splice_Site	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:11576218G>T	ENST00000294484.6	+	6	1887	c.1749_splice	c.e6+1	p.Q583_splice	PTCHD2_ENST00000389575.3_Splice_Site_p.Q583_splice	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	583	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTTCTCCCAGGTGCGGACCT	0.612000													17	40					2.94398e-08	3.52897e-08	1	1	0
OR5AN1	390195	broad.mit.edu	37	11	59132157	59132157	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:59132157A>T	ENST00000313940.2	+	1	273	c.226A>T	c.(226-228)Agc>Tgc	p.S76C		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTGCTATATCAGCTCCACAGT	0.418000													45	248					0	0	1	0	0
ARIH1	25820	broad.mit.edu	37	15	72873082	72873082	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:72873082C>A	ENST00000379887.4	+	12	1540	c.1226C>A	c.(1225-1227)gCa>gAa	p.A409E	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	409					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.A409E(4)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CGATCTAGGGCAGCCCTGCAG	0.383000													7	59					8.12818e-05	8.86928e-05	1	1	0
MGAT5B	146664	broad.mit.edu	37	17	74869044	74869044	+	Splice_Site	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:74869044A>T	ENST00000569840.2	+	2	754	c.181_splice	c.e2+1	p.E60_splice	MGAT5B_ENST00000428789.2_Splice_Site_p.E71_splice|MGAT5B_ENST00000301618.4_Splice_Site_p.E60_splice|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000565675.1_Splice_Site_p.E60_splice	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	60						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCGCACAGAAGGTACCTTGG	0.607000													21	76					0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668499	59668499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:59668499C>A	ENST00000521764.1	-	1	64	c.43G>T	c.(43-45)Gag>Tag	p.E15*		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	15					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGCGGCAACTCCTGCTCTGTA	0.577000													10	112					4.68919e-08	5.58488e-08	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94353082	94353082	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:94353082C>G	ENST00000515393.1	-	2	826	c.827G>C	c.(826-828)cGa>cCa	p.R276P	MCTP1_ENST00000505208.1_Missense_Mutation_p.R55P|MCTP1_ENST00000429576.2_Missense_Mutation_p.R55P|MCTP1_ENST00000312216.8_Missense_Mutation_p.R55P	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	276	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCCTCGATCTCGAGCAGCTAA	0.413000													51	115					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468728	10468728	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:10468728C>A	ENST00000382483.3	-	4	3103	c.2880G>T	c.(2878-2880)tgG>tgT	p.W960C		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	960					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGTTGTCCAGCCATTCGCGGA	0.647000													33	65					2.47316e-13	3.27693e-13	1	1	0
MAN2B1	4125	broad.mit.edu	37	19	12758381	12758381	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:12758381G>A	ENST00000456935.2	-	22	2736	c.2696C>T	c.(2695-2697)tCg>tTg	p.S899L	CTD-2192J16.22_ENST00000597692.1_Silent_p.L85L|MAN2B1_ENST00000221363.4_Missense_Mutation_p.S898L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	899					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGGTGCACCGAGGGCGGCAG	0.692000													16	103					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179100544	179100544	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:179100544T>A	ENST00000502732.1	-	3	496	c.293A>T	c.(292-294)aAg>aTg	p.K98M	ABL2_ENST00000344730.3_Missense_Mutation_p.K83M|ABL2_ENST00000512653.1_Missense_Mutation_p.K83M|ABL2_ENST00000367623.4_Missense_Mutation_p.K77M|ABL2_ENST00000504405.1_Missense_Mutation_p.K62M|ABL2_ENST00000507173.1_Missense_Mutation_p.K77M|ABL2_ENST00000392043.3_Missense_Mutation_p.K77M|ABL2_ENST00000511413.1_Missense_Mutation_p.K98M|ABL2_ENST00000408940.3_Missense_Mutation_p.K62M	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	98	CAP.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CAAGTTCTCCTTGGAGCTCCA	0.458000			T	ETV6	AML								39	76					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152711483	152711483	+	Silent	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:152711483A>G	ENST00000367255.5	-	53	8710	c.8109T>C	c.(8107-8109)atT>atC	p.I2703I	SYNE1_ENST00000448038.1_Silent_p.I2710I|SYNE1_ENST00000423061.1_Silent_p.I2710I|SYNE1_ENST00000265368.4_Silent_p.I2703I|SYNE1_ENST00000341594.5_Silent_p.I2742I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2703					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTGAGTCTGAATCACCCTCT	0.453000										HNSCC(10;0.0054)			35	95					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3087683	3087683	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:3087683C>T	ENST00000602557.1	-	28	4782	c.4227G>A	c.(4225-4227)gaG>gaA	p.E1409E	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Silent_p.E1408E|CSMD1_ENST00000542608.1_Silent_p.E1408E|CSMD1_ENST00000602723.1_Silent_p.E1409E|CSMD1_ENST00000539096.1_Silent_p.E1408E|CSMD1_ENST00000520002.1_Silent_p.E1409E|CSMD1_ENST00000400186.3_Silent_p.E1409E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1409	Sushi 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGTCTCCAGCCTCTCTGCTGT	0.522000													16	40					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356883	42356883	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:42356883C>G	ENST00000554171.1	+	5	3487	c.1055C>G	c.(1054-1056)aCa>aGa	p.T352R	LRFN5_ENST00000554120.1_Missense_Mutation_p.T352R|LRFN5_ENST00000298119.4_Missense_Mutation_p.T352R			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	352	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTAAAGGATACAGGTGCTTTT	0.393000										HNSCC(30;0.082)			42	98					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748163	19748163	+	Missense_Mutation	SNP	A	A	C	rs144088651		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:19748163A>C	ENST00000400113.3	-	5	1297	c.1193T>G	c.(1192-1194)aTg>aGg	p.M398R		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	398					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTTGGCATACATGAGATCGAA	0.632000													65	151					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44894219	44894219	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:44894219G>C	ENST00000326047.4	+	35	4308	c.4159G>C	c.(4159-4161)Gaa>Caa	p.E1387Q	KIF15_ENST00000425755.1_Missense_Mutation_p.E1022Q	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1387					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.E1387K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAGAAGTGAATCTTGAGG	0.353000													8	47					0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87043670	87043670	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:87043670G>T	ENST00000370563.3	+	12	2079	c.2037G>T	c.(2035-2037)cgG>cgT	p.R679R	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	679						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TAAAAGTTCGGGCTCATGGAG	0.443000													19	29					1.56452e-12	2.0474e-12	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19726123	19726123	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr21:19726123G>C	ENST00000284885.3	-	9	971	c.938C>G	c.(937-939)gCc>gGc	p.A313G		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	313	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAGAAAGGTGGCAGTAACTTG	0.289000													17	70					0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126261334	126261334	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:126261334C>T	ENST00000319340.2	+	3	989	c.939C>T	c.(937-939)ccC>ccT	p.P313P		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	313					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		ACATCAGCCCCTTCTACCAGC	0.692000													6	6					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108862410	108862410	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:108862410C>A	ENST00000356922.4	-	2	1479	c.1207G>T	c.(1207-1209)Gtg>Ttg	p.V403L	LIG4_ENST00000405925.1_Missense_Mutation_p.V403L|LIG4_ENST00000442234.1_Missense_Mutation_p.V403L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	403					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GTTTTCTGCACTATTTCTATT	0.328000								Non-homologous end-joining					34	92					3.90053e-15	5.43e-15	1	1	0
SYDE1	85360	broad.mit.edu	37	19	15221490	15221490	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:15221490C>A	ENST00000600252.1	+	1	1847	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	SYDE1_ENST00000342784.2_Missense_Mutation_p.Q412K|SYDE1_ENST00000600440.1_Missense_Mutation_p.Q345K			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	412	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GCCCCCCGGCCAGGTGCCCCT	0.711000													6	7					0.217242	0.21842	1	1	0
PLD1	5337	broad.mit.edu	37	3	171404573	171404573	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:171404573T>C	ENST00000351298.4	-	16	1895	c.1769A>G	c.(1768-1770)tAt>tGt	p.Y590C	PLD1_ENST00000356327.5_Intron|PLD1_ENST00000340989.4_Missense_Mutation_p.Y590C|PLD1_ENST00000342215.6_Intron	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	590	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATGACTTCTATAGTGATTAAA	0.328000													46	129					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128533	55128533	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:55128533C>T	ENST00000370862.3	+	4	1011	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	225					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTACCACATCTGTTTCTTTC	0.373000													4	35					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36700142	36700142	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:36700142G>A	ENST00000255448.4	-	2	344	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	DCLK1_ENST00000360631.3_Missense_Mutation_p.R45C|DCLK1_ENST00000379892.4_Missense_Mutation_p.R45C	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	45					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R45C(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGCAGCGTGCGGGTGCGGTAG	0.597000													27	132					0	0	1	0	0
GPR180	160897	broad.mit.edu	37	13	95271574	95271574	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:95271574C>T	ENST00000376958.4	+	4	701	c.676C>T	c.(676-678)Cat>Tat	p.H226Y		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	226						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TAATTACATTCATTTCTCCAG	0.363000													26	68					0	0	1	0	0
WDR36	134430	broad.mit.edu	37	5	110456699	110456699	+	Missense_Mutation	SNP	G	G	C	rs76787363		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:110456699G>C	ENST00000506538.2	+	19	2749	c.2176G>C	c.(2176-2178)Gaa>Caa	p.E726Q	WDR36_ENST00000513710.2_Missense_Mutation_p.E726Q	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	726					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTAAGATGTAGAAGTATCAGA	0.299000													39	83					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49965973	49965973	+	Silent	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:49965973C>G	ENST00000293350.4	+	8	1222	c.1059C>G	c.(1057-1059)gtC>gtG	p.V353V	ALDH16A1_ENST00000433981.2_Silent_p.V188V|ALDH16A1_ENST00000455361.2_Silent_p.V302V|ALDH16A1_ENST00000540132.1_Silent_p.V190V	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	353							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GTGACCTGGTCCAGCGCTTTG	0.701000													16	45					0	0	1	0	0
DNAJC5	80331	broad.mit.edu	37	20	62559701	62559701	+	Translation_Start_Site	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:62559701G>T	ENST00000360864.4	+	2	156	c.3G>T	c.(1-3)atG>atT	p.M1I	DNAJC5_ENST00000369911.2_Start_Codon_SNP_p.M1I	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	1					neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGCCTAACATGGCAGACCAGA	0.428000													24	79					1.10923e-09	1.37864e-09	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18250644	18250644	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:18250644G>T	ENST00000377369.2	+	3	669	c.396G>T	c.(394-396)aaG>aaT	p.K132N	SLC39A12_ENST00000377371.3_Missense_Mutation_p.K132N|SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377374.4_Missense_Mutation_p.K132N	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	132					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GTTCTTCAAAGCTCAACATGA	0.388000													7	107					0.00198382	0.00206741	1	1	0
OR9G4	283189	broad.mit.edu	37	11	56511196	56511196	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:56511196C>A	ENST00000302957.3	-	1	91	c.92G>T	c.(91-93)gGt>gTt	p.G31V		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGCTGAGAAACCCAACAAGAT	0.433000													21	123					8.10497e-08	9.60685e-08	1	1	0
DCAF4	26094	broad.mit.edu	37	14	73404690	73404690	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:73404690A>T	ENST00000555042.1	+	2	69	c.4A>T	c.(4-6)Aat>Tat	p.N2Y	DCAF4_ENST00000394234.2_Intron|DCAF4_ENST00000510612.1_3'UTR|DCAF4_ENST00000509153.1_Missense_Mutation_p.N2Y|DCAF4_ENST00000358377.2_Missense_Mutation_p.N2Y|DCAF4_ENST00000353777.3_Missense_Mutation_p.N2Y	NM_001163508.1	NP_001156980.1	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	2						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AACAGAAATGAATAAAAGTCG	0.468000													11	99					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190234074	190234074	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:190234074A>T	ENST00000367462.3	-	4	770	c.539T>A	c.(538-540)cTa>cAa	p.L180Q	FAM5C_ENST00000534846.1_Missense_Mutation_p.L78Q|FAM5C_ENST00000484105.1_5'UTR|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		180						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGAAGCGGCTAGCTGATGTAG	0.463000													49	88					0	0	1	0	0
HMOX1	3162	broad.mit.edu	37	22	35789501	35789501	+	Silent	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:35789501C>G	ENST00000216117.8	+	5	1116	c.777C>G	c.(775-777)ctC>ctG	p.L259L		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	259					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	AGCCCCCACTCAACACCCGCT	0.562000													29	279					0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2258236	2258236	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:2258236C>T	ENST00000569417.1	+	7	953	c.599C>T	c.(598-600)aCg>aTg	p.T200M	MLST8_ENST00000382450.4_Missense_Mutation_p.T199M|MLST8_ENST00000397124.1_Missense_Mutation_p.T200M|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000565250.1_Missense_Mutation_p.T200M|MLST8_ENST00000564088.1_Missense_Mutation_p.T200M|MLST8_ENST00000301724.10_Missense_Mutation_p.T200M|MLST8_ENST00000561651.1_Intron	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	200					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						TGGAATCTGACGGGGGGCATT	0.632000													21	140					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144096867	144096867	+	Silent	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:144096867A>T	ENST00000467773.1	-	6	1136	c.1137T>A	c.(1135-1137)ccT>ccA	p.P379P	NOBOX_ENST00000223140.5_Silent_p.P262P|NOBOX_ENST00000483238.1_Silent_p.P347P	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	379					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GACTGCTGGCAGGGCCAGGGG	0.542000													3	23					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139429119	139429119	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:139429119C>A	ENST00000272641.3	-	2	274	c.168G>T	c.(166-168)ctG>ctT	p.L56L		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	56	II.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CAAACAGGCGCAGGGGACTGA	0.577000													49	142					4.0181e-32	6.30324e-32	1	1	0
OR10G3	26533	broad.mit.edu	37	14	22038316	22038316	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:22038316C>G	ENST00000303532.1	-	1	559	c.560G>C	c.(559-561)aGa>aCa	p.R187T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ACAGGCCAGTCTCAACACTGC	0.547000													48	219					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	20003345	20003345	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:20003345G>T	ENST00000589717.1	+	4	1381	c.1289G>T	c.(1288-1290)gGc>gTc	p.G430V	CTC-559E9.8_ENST00000585571.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.G354V	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	430				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAAGAATGTGGCAAATCCTTT	0.388000													24	36					2.89027e-11	3.70394e-11	1	1	0
OIT3	170392	broad.mit.edu	37	10	74666352	74666352	+	Splice_Site	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:74666352A>T	ENST00000334011.5	+	4	762		c.e4-1			NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3							nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TCTCTTCTGCAGATGAAAATG	0.478000													24	155					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10680336	10680336	+	Silent	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr18:10680336T>C	ENST00000302079.6	-	47	7283	c.7284A>G	c.(7282-7284)aaA>aaG	p.K2428K	PIEZO2_ENST00000580640.1_Silent_p.K2516K|PIEZO2_ENST00000538948.1_Silent_p.K448K|PIEZO2_ENST00000503781.3_Silent_p.K2491K|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Silent_p.K283K			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2491						integral to membrane	ion channel activity										TTATGTCTTCTTTTTCATAAT	0.398000													12	83					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358094	72358094	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:72358094C>G	ENST00000441259.1	-	3	1543	c.1383G>C	c.(1381-1383)tgG>tgC	p.W461C	PRF1_ENST00000373209.2_Missense_Mutation_p.W461C	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	461	C2.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GCCGCACTGACCAGATGGGGT	0.607000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				23	114					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365873	175365873	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:175365873C>T	ENST00000367674.1	-	5	1755	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P	TNR_ENST00000263525.2_Silent_p.P349P	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	349	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCACTGCCATCGGCCCGTCCC	0.597000													19	156					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288832	98288832	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:98288832C>A	ENST00000322128.3	-	1	1344	c.1241G>T	c.(1240-1242)aGc>aTc	p.S414I		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	414					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GTTGGATTGGCTCACCCCAGG	0.522000													168	216					6.98292e-63	1.13875e-62	1	1	0
POLR2B	5431	broad.mit.edu	37	4	57889646	57889646	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:57889646A>T	ENST00000381227.1	+	20	3079	c.2666A>T	c.(2665-2667)aAg>aTg	p.K889M	POLR2B_ENST00000441246.2_Missense_Mutation_p.K882M|POLR2B_ENST00000431623.2_Missense_Mutation_p.K814M|POLR2B_ENST00000314595.5_Missense_Mutation_p.K889M			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	889					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CGCTATACCAAGAGAGACTGT	0.413000													46	91					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237780692	237780692	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:237780692G>A	ENST00000366574.2	+	38	6139	c.5822G>A	c.(5821-5823)cGt>cAt	p.R1941H	RYR2_ENST00000542537.1_Missense_Mutation_p.R1925H|RYR2_ENST00000360064.6_Missense_Mutation_p.R1939H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1941	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R1939H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACAATCAACGTTTCCGATAC	0.473000													12	86					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155952	22155952	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:22155952C>T	ENST00000397126.4	-	4	2032	c.1884G>A	c.(1882-1884)aaG>aaA	p.K628K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATGAATTGCCTTATGTGTAG	0.378000													28	66					0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28014556	28014556	+	Silent	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:28014556T>C	ENST00000381116.1	-	5	264	c.30A>G	c.(28-30)acA>acG	p.T10T	MTIF3_ENST00000405591.2_Silent_p.T10T|MTIF3_ENST00000381120.3_Silent_p.T10T|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000431572.2_Silent_p.T10T			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	10					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CAGTTTGTAGTGTTAACCTCT	0.383000													6	19					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75983081	75983081	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:75983081G>A	ENST00000308508.5	-	3	417	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	109	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACAGTGTGGGGGATGGAGTCA	0.602000													28	111					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971532	79971532	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:79971532C>A	ENST00000466387.1	+	7	846	c.122C>A	c.(121-123)aCa>aAa	p.T41K	CTNNA2_ENST00000496558.1_Missense_Mutation_p.T41K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.T41K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T75K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T41K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T41K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	41					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTTGTCAACACAAGCAACAAA	0.378000													13	66					0.000151284	0.000164594	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15649826	15649826	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:15649826C>G	ENST00000378076.3	-	17	1967	c.1614G>C	c.(1612-1614)ttG>ttC	p.L538F		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	538					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTCTGCCATCAAGACTAAAG	0.408000													9	118					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93101689	93101689	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:93101689T>A	ENST00000359558.2	-	7	780	c.481A>T	c.(481-483)Aag>Tag	p.K161*	CALCR_ENST00000394441.1_Nonsense_Mutation_p.K143*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.K143*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.K143*|CALCR_ENST00000421592.1_Nonsense_Mutation_p.K143*	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	143					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GAACCTACCTTCAGTTTCTCA	0.363000													20	89					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8196582	8196582	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:8196582C>A	ENST00000600128.1	-	15	2260	c.1846G>T	c.(1846-1848)Gtg>Ttg	p.V616L	FBN3_ENST00000601739.1_Missense_Mutation_p.V616L|FBN3_ENST00000270509.2_Missense_Mutation_p.V616L			Q75N90	FBN3_HUMAN	fibrillin 3	616						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGCTGCGCACGTGGGTGTCC	0.677000													18	56					1.99824e-07	2.34232e-07	1	1	0
CSPG4	1464	broad.mit.edu	37	15	75980590	75980590	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:75980590C>A	ENST00000308508.5	-	3	2908	c.2816G>T	c.(2815-2817)cGg>cTg	p.R939L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	939	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATGGCGGGGCCGCTCCATGAC	0.587000													21	135					4.26978e-12	5.57777e-12	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14764048	14764048	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr18:14764048C>A	ENST00000358984.4	+	7	1364	c.1184C>A	c.(1183-1185)gCa>gAa	p.A395E	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A395E	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	395										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AATATGATTGCATGTCCTACA	0.373000													3	20					1	1	1	1	0
CHST13	166012	broad.mit.edu	37	3	126260829	126260829	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:126260829C>A	ENST00000319340.2	+	3	484	c.434C>A	c.(433-435)gCg>gAg	p.A145E		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	145					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GAGGCGCACGCGCCTGGCCGC	0.726000													7	4					0.00198382	0.00206741	1	1	0
EHMT1	79813	broad.mit.edu	37	9	140672343	140672343	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:140672343G>T	ENST00000460843.1	+	13	2055	c.2028G>T	c.(2026-2028)ggG>ggT	p.G676G	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.G645G|EHMT1_ENST00000462484.1_Silent_p.G676G	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	676					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GTGCTGCCGGGCCACCACTCT	0.602000													70	191					6.30617e-38	1.00196e-37	1	1	0
SNORD115-43	100033817	broad.mit.edu	37	15	25494419	25494419	+	RNA	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:25494419T>A	ENST00000365503.1	+	0	75					NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1																						AGGATTACGCTGAGGCCCAGG	0.488000													77	393					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026967	37026967	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:37026967G>C	ENST00000358047.3	+	1	536	c.484G>C	c.(484-486)Gca>Cca	p.A162P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	162								p.A162P(4)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCTGGAGGACGCAGGCTCTTG	0.582000													25	24					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743132	26743132	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:26743132C>A	ENST00000396005.3	-	1	439	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	SLC5A12_ENST00000280467.6_Missense_Mutation_p.G44W	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	44					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TGCCTTCCCCCAACCAGGAAC	0.502000													25	77					3.83957e-06	4.32316e-06	1	1	0
SOGA3	387104	broad.mit.edu	37	6	127804089	127804089	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:127804089G>A	ENST00000556132.1	-	5	2390	c.1526C>T	c.(1525-1527)tCt>tTt	p.S509F	SOGA3_ENST00000481848.2_Missense_Mutation_p.S509F|SOGA3_ENST00000525778.1_Missense_Mutation_p.S509F|SOGA3_ENST00000368268.2_Missense_Mutation_p.S509F|SOGA3_ENST00000465909.2_Missense_Mutation_p.S509F	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	509						integral to membrane											CTTTTTTTCAGATTTTGGCAA	0.294000													17	136					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	52					0	0	1	0	0
SLC35B1	10237	broad.mit.edu	37	17	47785106	47785106	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:47785106G>A	ENST00000240333.6	-	1	211	c.90C>T	c.(88-90)atC>atT	p.I30I	SLC35B1_ENST00000415270.2_Silent_p.I67I			P78383	S35B1_HUMAN	solute carrier family 35, member B1	30						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						TTTCCTGCAGGATCCCATAGT	0.642000											OREG0024545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	35					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245851058	245851058	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:245851058G>A	ENST00000366518.4	+	9	3734	c.3630G>A	c.(3628-3630)cgG>cgA	p.R1210R	KIF26B_ENST00000407071.2_Silent_p.R1591R			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1591					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TTCTGGCTCGGCCCAAAGGGA	0.682000													7	8					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95721065	95721065	+	RNA	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:95721065G>A	ENST00000480546.1	-	0	232					NR_002319.2																						TTTCAAGGCTGATGAGGTTGT	0.502000													16	109					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30409405	30409405	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:30409405G>T	ENST00000375994.2	+	3	910	c.637G>T	c.(637-639)Ggc>Tgc	p.G213C	MYLK2_ENST00000375985.4_Missense_Mutation_p.G213C			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	213					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAAACCCCAGGCCAGGCTGG	0.607000													35	101					2.52637e-11	3.25446e-11	1	1	0
PEG3	5178	broad.mit.edu	37	19	57325927	57325927	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:57325927C>A	ENST00000326441.9	-	10	4246	c.3883G>T	c.(3883-3885)Gca>Tca	p.A1295S	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A1171S|PEG3_ENST00000593695.1_Missense_Mutation_p.A1169S|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A1295S|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1295					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCAAGTTCTGCTGGGTTGACG	0.473000													22	95					4.4004e-07	5.08582e-07	1	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124526	142124526	+	RNA	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:142124526G>T	ENST00000390376.2	-	0	39																											CCTGCCCACAGGAGAGAAAAG	0.602000													9	75					1.33987e-11	1.72902e-11	1	1	0
HDAC4	9759	broad.mit.edu	37	2	240085607	240085607	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:240085607C>A	ENST00000345617.3	-	6	1294	c.503G>T	c.(502-504)aGc>aTc	p.S168I	HDAC4_ENST00000541256.1_Missense_Mutation_p.S137I	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	168	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.S168N(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CACTTCTGTGCTGGCCACGGC	0.567000													31	88					6.38683e-12	8.29953e-12	1	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27765098	27765098	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:27765098C>A	ENST00000451261.2	+	5	485	c.86C>A	c.(85-87)gCc>gAc	p.A29D		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CAGTCTGGAGCCGTGGCGGCG	0.562000													4	8					0.00909568	0.00933471	1	1	0
TAS2R5	54429	broad.mit.edu	37	7	141490683	141490683	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:141490683T>A	ENST00000247883.4	+	1	667	c.522T>A	c.(520-522)aaT>aaA	p.N174K		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	174					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TTCAGCTCAATTCAGGAAGTT	0.433000													7	56					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28511043	28511043	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:28511043C>T	ENST00000261609.7	-	13	1784	c.1676G>A	c.(1675-1677)gGg>gAg	p.G559E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	559					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTAAGTGCTCCCGCAAGCGAT	0.622000													6	68					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984517	140984517	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:140984517G>C	ENST00000544766.1	+	5	606	c.79G>C	c.(79-81)Gat>Cat	p.D27H	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.D27H|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.D27H|MAGEC3_ENST00000483584.1_3'UTR	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGACTTGGTAGATGCACAGGA	0.517000													46	68					0	0	1	0	0
CLUAP1	23059	broad.mit.edu	37	16	3556381	3556381	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:3556381G>C	ENST00000571025.1	+	3	235	c.185G>C	c.(184-186)cGa>cCa	p.R62P	CLUAP1_ENST00000576634.1_Missense_Mutation_p.R62P|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000417763.2_5'UTR|CLUAP1_ENST00000341633.5_Missense_Mutation_p.R62P			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	62						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GAACAGGACCGAGTTTTCTTC	0.433000													35	103					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59021373	59021373	+	Splice_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:59021373C>A	ENST00000263093.2	-	3	1008		c.e3-1		SLC27A5_ENST00000601355.1_Splice_Site	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5						bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TTCGGGAGGCCTTGGGATGAA	0.577000													11	47					2.27111e-07	2.6538e-07	1	1	0
TTC40	54777	broad.mit.edu	37	10	134659644	134659644	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:134659644G>T	ENST00000368586.5	-	44	6455	c.6355C>A	c.(6355-6357)Cta>Ata	p.L2119I	TTC40_ENST00000263170.5_Missense_Mutation_p.L280I	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	280										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGTGCTGTAGCTGCAGCAGG	0.657000													10	14					0.00621372	0.00643037	1	1	0
ST8SIA2	8128	broad.mit.edu	37	15	93007589	93007589	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:93007589G>C	ENST00000268164.3	+	6	1339	c.1102G>C	c.(1102-1104)Gtc>Ctc	p.V368L	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V347L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	368					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GAAACTGACTGTCGGCCAGTG	0.607000													7	116					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90074414	90074414	+	Silent	SNP	A	A	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:90074414A>C	ENST00000405460.2	+	63	12933	c.12837A>C	c.(12835-12837)tcA>tcC	p.S4279S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4279					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCGAGTGTCAGAAGCACAGA	0.393000													7	49					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165218788	165218788	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:165218788C>A	ENST00000342310.3	-	4	735	c.353G>T	c.(352-354)aGc>aTc	p.S118I	LMX1A_ENST00000367893.4_Missense_Mutation_p.S118I|LMX1A_ENST00000294816.2_Missense_Mutation_p.S118I	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	118	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GCAGAAGCAGCTCAGGTGGTA	0.557000													25	85					7.87624e-14	1.0684e-13	1	1	0
WDR16	146845	broad.mit.edu	37	17	9489128	9489128	+	Missense_Mutation	SNP	G	G	C	rs145662842		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:9489128G>C	ENST00000352665.5	+	2	178	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	WDR16_ENST00000396219.3_Intron|WDR16_ENST00000299764.5_Missense_Mutation_p.E47Q	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	37						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCCTGACCAGGAGCATATGAT	0.438000													10	240					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103364232	103364232	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:103364232G>T	ENST00000358392.2	-	56	4591	c.4274C>A	c.(4273-4275)cCt>cAt	p.P1425H	COL11A1_ENST00000370096.3_Missense_Mutation_p.P1413H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1297H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P1374H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1413	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CACAGGACCAGGGATGCCCCG	0.458000													17	60					1.99824e-07	2.34232e-07	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228109676	228109676	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:228109676G>A	ENST00000396578.3	+	5	451	c.289G>A	c.(289-291)Gga>Aga	p.G97R	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	97	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGAATAAGTGGATTGCCAGG	0.318000													38	93					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511128	61511128	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:61511128C>A	ENST00000266070.4	-	16	6505	c.6180G>T	c.(6178-6180)gaG>gaT	p.E2060D	DIDO1_ENST00000395343.1_Missense_Mutation_p.E2060D	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2060					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCCGTCGGCCTCGGGGCCCT	0.687000													49	234					2.48909e-17	3.6002e-17	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108339231	108339231	+	Splice_Site	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:108339231G>T	ENST00000263054.6	-	25	3274	c.3265_splice	c.e25-1	p.A1089_splice	SORCS1_ENST00000369698.1_Splice_Site_p.A624_splice|SORCS1_ENST00000344440.6_Splice_Site_p.A1089_splice	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1089						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCACCAGGGGGGCTTGTGGGG	0.522000													6	55					0.00116845	0.00122977	1	1	0
JUP	3728	broad.mit.edu	37	17	39778633	39778633	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:39778633C>A	ENST00000540235.1	-	6	1122	c.1123G>T	c.(1123-1125)Gcc>Tcc	p.A375S	KRT17_ENST00000311208.8_Missense_Mutation_p.A216S			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TTCAGGTAGGCCAGCTCCTCC	0.612000													49	101					3.10996e-30	4.84788e-30	1	1	0
ATP6V0D2	245972	broad.mit.edu	37	8	87126091	87126091	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:87126091C>A	ENST00000285393.3	+	2	426	c.284C>A	c.(283-285)aCa>aAa	p.T95K	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	95					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CCCCTCAGCACATTTCTCACC	0.443000													31	176					3.90053e-15	5.43e-15	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75038364	75038364	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:75038364C>T	ENST00000326665.5	-	14	3248	c.3030G>A	c.(3028-3030)gaG>gaA	p.E1010E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1010	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGGGCTGCCCTCCGAAACCT	0.532000													48	169					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21117556	21117556	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:21117556T>C	ENST00000377122.4	-	17	2075	c.1679A>G	c.(1678-1680)tAt>tGt	p.Y560C	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	560					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCATCTTTATACTTTCTCTA	0.393000													4	14					0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47710814	47710814	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:47710814C>A	ENST00000262982.2	+	23	2708	c.2585C>A	c.(2584-2586)aCc>aAc	p.T862N	CSE1L_ENST00000396192.3_Missense_Mutation_p.T806N|CSE1L_ENST00000542325.1_Missense_Mutation_p.T645N|CSE1L_ENST00000469700.1_3'UTR	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	862					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ACTGAGTATACCAAACTGTGG	0.373000													28	111					5.60225e-13	7.39656e-13	1	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232650572	232650572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:232650572C>A	ENST00000366630.1	-	2	872	c.514G>T	c.(514-516)Gaa>Taa	p.E172*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.E172*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	172					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGACATCTTCGGCATCAATG	0.498000													27	239					2.44723e-14	3.36268e-14	1	1	0
FLG2	388698	broad.mit.edu	37	1	152329112	152329112	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:152329112C>A	ENST00000388718.5	-	3	1222	c.1150G>T	c.(1150-1152)Ggg>Tgg	p.G384W	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	384	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCAGACCCATATTGTCCA	0.438000													57	132					9.53978e-28	1.47163e-27	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112457441	112457441	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:112457441G>A	ENST00000230538.7	-	25	3695	c.3298C>T	c.(3298-3300)Ctg>Ttg	p.L1100L	LAMA4_ENST00000522006.1_Silent_p.L1093L|LAMA4_ENST00000424408.2_Silent_p.L1093L|LAMA4_ENST00000389463.4_Silent_p.L1093L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1100	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CGCATTTCCAGTCTGAAAAAC	0.378000													18	122					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78893797	78893797	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:78893797G>T	ENST00000326828.5	-	5	1571	c.1187C>A	c.(1186-1188)cCc>cAc	p.P396H	CHRNA3_ENST00000348639.3_Missense_Mutation_p.P396H	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	396					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCCTGGCAGGGGTAGCCCTC	0.547000													24	134					8.24728e-16	1.16562e-15	1	1	0
SPATA5L1	79029	broad.mit.edu	37	15	45710780	45710780	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:45710780G>A	ENST00000305560.6	+	7	2093	c.1994G>A	c.(1993-1995)tGt>tAt	p.C665Y	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	665						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TTAAAAGTCTGTACAAAAACC	0.328000													12	59					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92352687	92352687	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:92352687G>T	ENST00000276609.3	+	8	1173	c.934G>T	c.(934-936)Gct>Tct	p.A312S	SLC26A7_ENST00000309536.2_Missense_Mutation_p.A312S|SLC26A7_ENST00000523719.1_Missense_Mutation_p.A312S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	312						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GATCACTGAAGCTTTCGGAGT	0.458000													29	146					5.77227e-19	8.48124e-19	1	1	0
CKM	1158	broad.mit.edu	37	19	45811719	45811719	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:45811719T>G	ENST00000221476.3	-	6	899	c.725A>C	c.(724-726)aAg>aCg	p.K242T		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	242	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GTTGCCCCCCTTCTCCATGGA	0.577000													23	95					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78092010	78092010	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:78092010A>T	ENST00000302262.3	+	18	2719	c.2500A>T	c.(2500-2502)Aca>Tca	p.T834S	GAA_ENST00000390015.3_Missense_Mutation_p.T834S	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	834					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCTCACAACCACAGAGTCCCG	0.662000													18	61					0	0	1	0	0
MDH2	4191	broad.mit.edu	37	7	75693728	75693728	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:75693728G>T	ENST00000315758.5	+	7	799	c.705G>T	c.(703-705)acG>acT	p.T235T	MDH2_ENST00000443006.1_Silent_p.T128T|MDH2_ENST00000432020.2_Silent_p.T193T	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	235					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	binding|L-malate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	AGGCCGGCACGGAGGTGGTCA	0.642000													10	24					0.000978159	0.00103685	1	1	0
C4orf40	401137	broad.mit.edu	37	4	71024382	71024382	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:71024382C>T	ENST00000344526.5	+	3	602	c.413C>T	c.(412-414)cCt>cTt	p.P138L	C4orf40_ENST00000502294.1_Missense_Mutation_p.P138L|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	138	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCAGCTGCACCTCTTACAGCC	0.612000													37	81					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183774069	183774069	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:183774069G>T	ENST00000318351.1	+	4	418	c.384G>T	c.(382-384)gtG>gtT	p.V128V		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	128			V -> M (in a colorectal cancer sample; somatic mutation).			integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TCTTCATCGTGGAATCGTGCG	0.507000													50	86					3.39706e-21	5.08189e-21	1	1	0
MYH1	4619	broad.mit.edu	37	17	10406147	10406147	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:10406147G>A	ENST00000226207.5	-	24	3113	c.3019C>T	c.(3019-3021)Cac>Tac	p.H1007Y	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1007						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTCTGCTGGTGGGCCTCCTGG	0.493000													66	180					0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126370845	126370845	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:126370845C>A	ENST00000337318.3	-	4	448	c.237G>T	c.(235-237)tgG>tgT	p.W79C	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Missense_Mutation_p.W79C|FAM53B_ENST00000392754.3_Missense_Mutation_p.W79C	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	79										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CCTCCCGGTGCCATAGTGAGC	0.587000													9	33					0.000673444	0.000714872	1	1	0
SLC9A4	389015	broad.mit.edu	37	2	103095476	103095476	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:103095476C>A	ENST00000295269.4	+	2	892	c.435C>A	c.(433-435)ttC>ttA	p.F145L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	145					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCGGCTACTTCATGCCCACCC	0.592000													7	84					0.00198382	0.00206741	1	1	0
ALKBH5	54890	broad.mit.edu	37	17	18087954	18087954	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:18087954T>G	ENST00000399138.4	+	1	402	c.397T>G	c.(397-399)Tac>Gac	p.Y133D	RP11-258F1.1_ENST00000583062.1_RNA|RP11-258F1.1_ENST00000577847.1_RNA|ALKBH5_ENST00000541285.1_Intron	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	133						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					GCGCAACAAGTACTTCTTCGG	0.677000													39	133					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56878488	56878488	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:56878488G>A	ENST00000569842.1	+	23	2641	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	NUP93_ENST00000564887.1_Silent_p.A686A|NUP93_ENST00000542526.1_Silent_p.A686A|NUP93_ENST00000308159.5_Silent_p.A809A			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	0					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACACCAATGCGAGGCTGGTGC	0.547000													9	88					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53281338	53281338	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:53281338C>T	ENST00000566029.1	+	16	3797	c.3588C>T	c.(3586-3588)gcC>gcT	p.A1196A	CHD9_ENST00000564845.1_Silent_p.A1196A|CHD9_ENST00000447540.1_Silent_p.A1196A|CHD9_ENST00000398510.3_Silent_p.A1196A			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1196	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAATGAAAGCCGGAGGTCATA	0.383000													9	22					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51204028	51204028	+	Splice_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:51204028C>A	ENST00000395542.2	-	7	1043	c.858_splice	c.e7-1	p.G287_splice	COBL_ENST00000395540.2_Splice_Site_p.G262_splice|COBL_ENST00000441453.1_Splice_Site_p.G262_splice|COBL_ENST00000265136.7_Splice_Site_p.G262_splice			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	262										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GTTAAACAGCCCTGTTGGGGA	0.522000													8	37					1.06961e-07	1.26378e-07	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152652537	152652537	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:152652537G>C	ENST00000367255.5	-	78	13884	c.13283C>G	c.(13282-13284)tCt>tGt	p.S4428C	SYNE1_ENST00000448038.1_Missense_Mutation_p.S4357C|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4357C|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4428C|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4293C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4428					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGTGCATCAGAGAGAGCCTT	0.493000										HNSCC(10;0.0054)			37	104					0	0	1	0	0
TMEM248	55069	broad.mit.edu	37	7	66418315	66418315	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:66418315A>G	ENST00000341567.4	+	6	1138	c.883A>G	c.(883-885)Agc>Ggc	p.S295G		NM_017994.4	NP_060464.1			transmembrane protein 248																		GGGCAGACCTAGCAAATTGCG	0.443000													64	179					0	0	1	0	0
NAGK	55577	broad.mit.edu	37	2	71299781	71299781	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:71299781G>T	ENST00000418807.3	+	4	377	c.213G>T	c.(211-213)gtG>gtT	p.V71V	NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000244204.5_Silent_p.V122V|NAGK_ENST00000455662.2_Silent_p.V168V			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	122					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GTGGAGTTGTGCTCATATCTG	0.582000													12	37					2.27111e-07	2.6538e-07	1	1	0
TRPS1	7227	broad.mit.edu	37	8	116430642	116430642	+	Silent	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:116430642C>G	ENST00000395715.3	-	6	3316	c.2739G>C	c.(2737-2739)ctG>ctC	p.L913L	TRPS1_ENST00000520276.1_Silent_p.L904L|TRPS1_ENST00000519076.1_Silent_p.L654L|TRPS1_ENST00000220888.5_Silent_p.L900L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	900					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCTTTGTGGTCAGGCAATTGG	0.488000									Langer-Giedion syndrome				24	261					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7559561	7559561	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:7559561G>C	ENST00000379802.3	+	4	866	c.525G>C	c.(523-525)caG>caC	p.Q175H	DSP_ENST00000418664.2_Missense_Mutation_p.Q175H	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	175	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACACTTGTCAGAGTGGCTCTG	0.537000													23	158					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	102117079	102117079	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:102117079C>A	ENST00000394854.3	-	2	936	c.253G>T	c.(253-255)Gtc>Ttc	p.V85F	PPP3CA_ENST00000523694.2_Intron|PPP3CA_ENST00000507176.1_Intron|PPP3CA_ENST00000394853.4_Missense_Mutation_p.V85F|PPP3CA_ENST00000323055.6_Missense_Mutation_p.V85F|PPP3CA_ENST00000512215.1_Missense_Mutation_p.V85F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	85	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TTACCAGTGACTGGCGCATCA	0.418000													22	69					6.44725e-10	8.09452e-10	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873373	91873373	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:91873373C>T	ENST00000373094.1	+	7	4323	c.3478C>T	c.(3478-3480)Cat>Tat	p.H1160Y	PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1152Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1123Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1150Y|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1142Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1123Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1160					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.H1160N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCTCTGGATCATTCCAGCTC	0.542000													15	57					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455418	29455418	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:29455418A>T	ENST00000377127.3	-	1	320	c.262T>A	c.(262-264)Tgt>Agt	p.C88S		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	88						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AAGACCCCACAGAGGGAGACC	0.537000													19	46					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43571354	43571354	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:43571354T>C	ENST00000405006.4	-	30	4601	c.4250A>G	c.(4249-4251)tAc>tGc	p.Y1417C	THADA_ENST00000415080.2_Missense_Mutation_p.Y1098C|THADA_ENST00000485353.1_5'UTR|THADA_ENST00000405975.2_Missense_Mutation_p.Y1417C|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1417							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GGAGTCTGAGTAGGCTTGCAA	0.398000													8	35					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61859043	61859043	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:61859043G>T	ENST00000577390.1	-	5	1662	c.708C>A	c.(706-708)gcC>gcA	p.A236A	CDH8_ENST00000299345.6_Silent_p.A236A|CDH8_ENST00000584337.1_Silent_p.A236A|CDH8_ENST00000577730.1_Silent_p.A236A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	236	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACTCCTCCTTGGCTTCTCTGT	0.448000													38	86					5.43694e-19	8.00438e-19	1	1	0
ZNF304	57343	broad.mit.edu	37	19	57868711	57868711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:57868711C>T	ENST00000391705.3	+	4	1758	c.1474C>T	c.(1474-1476)Caa>Taa	p.Q492*	ZNF304_ENST00000282286.5_Nonsense_Mutation_p.Q492*|ZNF304_ENST00000443917.2_Nonsense_Mutation_p.Q539*|ZNF304_ENST00000598744.1_Nonsense_Mutation_p.Q450*	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CACACTTGTGCAACACCAAAA	0.448000													28	117					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139180143	139180143	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:139180143G>C	ENST00000395297.1	-	12	1423	c.1253C>G	c.(1252-1254)gCg>gGg	p.A418G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	418										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAAACCTGTCGCAGGGCAGTC	0.507000										HNSCC(54;0.14)			35	163					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565358	156565358	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:156565358C>G	ENST00000368232.4	-	8	892	c.760G>C	c.(760-762)Gat>Cat	p.D254H	GPATCH4_ENST00000438976.2_Missense_Mutation_p.D259H	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	254						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCTTTCATCTGAGACCTTT	0.458000													43	434					0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67269421	67269421	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:67269421C>A	ENST00000356404.3	-	5	777	c.552G>T	c.(550-552)ggG>ggT	p.G184G	PITPNM1_ENST00000436757.2_Silent_p.G184G|PITPNM1_ENST00000534749.1_Silent_p.G184G	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	184					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACATAAGGGGCCCCGTCTGTG	0.587000													17	48					6.49762e-13	8.54829e-13	1	1	0
CDR1	1038	broad.mit.edu	37	X	139866376	139866376	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:139866376C>A	ENST00000370532.2	-	1	347	c.156G>T	c.(154-156)ttG>ttT	p.L52F		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	52	23 X 6 AA approximate repeats.							p.L52F(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCACGTCTTCCAACAAAGCCA	0.438000													69	79					4.96364e-44	7.97191e-44	1	1	0
C17orf77	146723	broad.mit.edu	37	17	72588888	72588888	+	Missense_Mutation	SNP	C	C	G	rs139358664	byFrequency	TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:72588888C>G	ENST00000392620.1	+	3	1065	c.703C>G	c.(703-705)Ccc>Gcc	p.P235A	C17orf77_ENST00000328023.2_Missense_Mutation_p.P235A	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	235						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ACTGCCCCTTCCCCCAGGAAC	0.572000													10	71					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46918321	46918321	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:46918321G>C	ENST00000218343.4	+	11	2612	c.2314G>C	c.(2314-2316)Gag>Cag	p.E772Q	PHF16_ENST00000397189.1_Missense_Mutation_p.E772Q	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		772					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCCAGATTTGGAGCTGAGTGA	0.488000													8	23					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26446249	26446249	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:26446249T>C	ENST00000265944.5	+	26	2970	c.2804T>C	c.(2803-2805)aTg>aCg	p.M935T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	935	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TATTCCCTGATGGATTTGTTG	0.353000													15	60					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216741383	216741383	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:216741383G>A	ENST00000391890.3	-	6	1095	c.578C>T	c.(577-579)gCg>gTg	p.A193V	ESRRG_ENST00000408911.3_Missense_Mutation_p.A216V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A193V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A193V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A193V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A193V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A193V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A154V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A221V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A193V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A193V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A193V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A193V	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	216					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GCTGTTCTCCGCATCTATCCT	0.527000													51	97					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57569386	57569386	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:57569386G>T	ENST00000524630.1	+	7	1651	c.1138G>T	c.(1138-1140)Gat>Tat	p.D380Y	CTNND1_ENST00000528621.1_Missense_Mutation_p.D326Y|CTNND1_ENST00000399050.4_Missense_Mutation_p.D380Y|CTNND1_ENST00000532463.1_Missense_Mutation_p.D279Y|CTNND1_ENST00000529526.1_Missense_Mutation_p.D326Y|CTNND1_ENST00000428599.2_Missense_Mutation_p.D380Y|CTNND1_ENST00000415361.2_Missense_Mutation_p.D279Y|CTNND1_ENST00000525902.1_Missense_Mutation_p.D57Y|CTNND1_ENST00000361391.6_Missense_Mutation_p.D380Y|CTNND1_ENST00000532245.1_Missense_Mutation_p.D279Y|CTNND1_ENST00000532649.1_Missense_Mutation_p.D326Y|CTNND1_ENST00000526938.1_Missense_Mutation_p.D380Y|CTNND1_ENST00000529919.1_Missense_Mutation_p.D380Y|CTNND1_ENST00000361332.4_Missense_Mutation_p.D380Y|CTNND1_ENST00000358694.6_Missense_Mutation_p.D380Y|CTNND1_ENST00000399039.4_Missense_Mutation_p.D380Y|CTNND1_ENST00000534579.1_Missense_Mutation_p.D326Y|CTNND1_ENST00000531014.1_Missense_Mutation_p.D57Y|CTNND1_ENST00000426142.2_Missense_Mutation_p.D279Y|CTNND1_ENST00000526772.1_Missense_Mutation_p.D57Y|CTNND1_ENST00000529873.1_Missense_Mutation_p.D326Y|CTNND1_ENST00000532787.1_Missense_Mutation_p.D279Y|CTNND1_ENST00000526357.1_Missense_Mutation_p.D326Y|CTNND1_ENST00000532844.1_Missense_Mutation_p.D326Y|CTNND1_ENST00000361796.4_Missense_Mutation_p.D380Y|CTNND1_ENST00000530094.1_Missense_Mutation_p.D279Y|CTNND1_ENST00000527467.1_Missense_Mutation_p.D57Y|CTNND1_ENST00000528232.1_Missense_Mutation_p.D279Y|CTNND1_ENST00000533667.1_Missense_Mutation_p.D57Y|CTNND1_ENST00000360682.6_Missense_Mutation_p.D380Y|CTNND1_ENST00000530748.1_Missense_Mutation_p.D326Y|CTNND1_ENST00000529986.1_Missense_Mutation_p.D279Y			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	380				D -> G (in Ref. 6; AAH75795).	adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ATTCCGCTTGGATGCTGTCAA	0.537000													38	93					1.47244e-24	2.2297e-24	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176564228	176564228	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:176564228C>A	ENST00000367662.3	+	3	2652	c.1488C>A	c.(1486-1488)ccC>ccA	p.P496P	PAPPA2_ENST00000367661.3_Silent_p.P496P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	496	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTTGCAGCCCCCACTCTGTG	0.532000													15	118					4.93089e-13	6.52178e-13	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7050846	7050846	+	Silent	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr18:7050846C>G	ENST00000389658.3	-	4	528	c.435G>C	c.(433-435)acG>acC	p.T145T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	145	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGGCTGAACGTGGTGCCAT	0.493000													16	74					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237038041	237038041	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:237038041C>T	ENST00000366577.5	+	24	2883	c.2489C>T	c.(2488-2490)tCa>tTa	p.S830L	MTR_ENST00000535889.1_Missense_Mutation_p.S779L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	830	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	attGGCCTGTCAGGACTCATC	0.348000													10	43					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352280	168352280	+	Missense_Mutation	SNP	C	C	T	rs144643489	byFrequency	TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:168352280C>T	ENST00000366806.2	+	30	4367	c.4225C>T	c.(4225-4227)Cgg>Tgg	p.R1409W	MLLT4_ENST00000392108.3_Missense_Mutation_p.R1409W|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1392W|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1416W|MLLT4_ENST00000447894.2_Missense_Mutation_p.R1409W|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1409W|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1408W			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1409					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGCTGCTGAACGGAGAAAGAG	0.592000			T	MLL	AL								40	117					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231472103	231472103	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:231472103G>C	ENST00000366645.1	-	1	1495	c.1377C>G	c.(1375-1377)ttC>ttG	p.F459L	EXOC8_ENST00000360394.2_Missense_Mutation_p.F463L			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	463					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGCTGGTAAAGAAGACATGGC	0.478000													13	111					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585064	158585064	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:158585064G>T	ENST00000368148.3	-	48	6910	c.6730C>A	c.(6730-6732)Cag>Aag	p.Q2244K	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q2241K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2244					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGTAGAGCTGGTCCCACTGC	0.547000													105	243					1.12176e-53	1.8134e-53	1	1	0
TNN	63923	broad.mit.edu	37	1	175046753	175046753	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:175046753G>T	ENST00000239462.4	+	2	312	c.199G>T	c.(199-201)Gac>Tac	p.D67Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	67					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCCTCAGTGACGATGGGGC	0.582000													8	77					5.4927e-09	6.71431e-09	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129486812	129486812	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:129486812C>A	ENST00000421865.2	+	9	1347	c.1298C>A	c.(1297-1299)gCt>gAt	p.A433D		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	433	Laminin EGF-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGAAACATGCTCGACGAGGT	0.393000													25	35					3.08376e-08	3.69057e-08	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120461934	120461934	+	Splice_Site	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:120461934C>T	ENST00000256646.2	-	31	6001		c.e31+1			NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2						anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTCTTTACCTGGAAGACA	0.428000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				7	86					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138425373	138425373	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:138425373G>C	ENST00000409968.1	+	27	4859	c.4681G>C	c.(4681-4683)Gtt>Ctt	p.V1561L	THSD7B_ENST00000413152.2_Missense_Mutation_p.V1533L|THSD7B_ENST00000272643.3_Missense_Mutation_p.V1564L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTTATGGCGTTTCAGGTGG	0.343000													3	12					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545792	82545792	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:82545792C>T	ENST00000423517.2	-	7	11847	c.11510G>A	c.(11509-11511)aGt>aAt	p.S3837N	PCLO_ENST00000333891.8_Missense_Mutation_p.S3837N|PCLO_ENST00000437081.1_Missense_Mutation_p.S557N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3768	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						ACTCACTTCACTGTCAGACAT	0.473000													59	187					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79660584	79660584	+	Silent	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:79660584G>C	ENST00000329138.4	+	9	849	c.714G>C	c.(712-714)ctG>ctC	p.L238L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	238	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCGAGTACCTGACCAGCCCCC	0.677000													5	43					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577862	179577862	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:179577862G>A	ENST00000589042.1	-	93	27223	c.26999C>T	c.(26998-27000)gCt>gTt	p.A9000V	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A8683V|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A7756V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8683	Ig-like 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTAGTAGCTATACATGT	0.383000													10	34					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091800	29091800	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:29091800C>A	ENST00000544772.1	-	12	1930	c.494G>T	c.(493-495)gGa>gTa	p.G165V	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.G357V|CHEK2_ENST00000382578.1_Missense_Mutation_p.G295V|CHEK2_ENST00000328354.6_Missense_Mutation_p.G386V|CHEK2_ENST00000403642.1_Missense_Mutation_p.G295V|CHEK2_ENST00000348295.3_Missense_Mutation_p.G357V|CHEK2_ENST00000404276.1_Missense_Mutation_p.G386V|CHEK2_ENST00000382580.2_Missense_Mutation_p.G429V|CHEK2_ENST00000405598.1_Missense_Mutation_p.G386V|CHEK2_ENST00000382565.1_Intron	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	386	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGTGGGGGTTCCACATAAGGT	0.438000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					24	67					9.57634e-11	1.21881e-10	1	1	0
XKR4	114786	broad.mit.edu	37	8	56435952	56435952	+	Missense_Mutation	SNP	C	C	G	rs144592369		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:56435952C>G	ENST00000327381.5	+	3	1219	c.1119C>G	c.(1117-1119)atC>atG	p.I373M		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	373						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGGCCGTCATCATCCAGTTCT	0.582000													41	138					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103180687	103180687	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:103180687G>T	ENST00000428762.1	-	44	7046	c.6887C>A	c.(6886-6888)cCg>cAg	p.P2296Q	RELN_ENST00000343529.5_Missense_Mutation_p.P2296Q|RELN_ENST00000424685.2_Missense_Mutation_p.P2296Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2296					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTCTCAGACGGTTGCCACCA	0.502000													14	125					3.27435e-08	3.90606e-08	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87179355	87179355	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:87179355G>T	ENST00000265724.3	-	14	1783	c.1366C>A	c.(1366-1368)Cag>Aag	p.Q456K	ABCB1_ENST00000543898.1_Missense_Mutation_p.Q392K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	456	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTAATATCCTGTCCATCAACA	0.403000													27	104					9.86323e-18	1.435e-17	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31318357	31318357	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:31318357C>A	ENST00000542188.1	-	26	3978	c.3665G>T	c.(3664-3666)cGg>cTg	p.R1222L	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1205L|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1183L	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1183					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGAAGTGACCCGGATGCGCTC	0.622000													15	46					2.31682e-05	2.54679e-05	1	1	0
UBR5	51366	broad.mit.edu	37	8	103311753	103311753	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:103311753C>A	ENST00000520539.1	-	24	3735	c.3129G>T	c.(3127-3129)ctG>ctT	p.L1043L	UBR5_ENST00000220959.4_Silent_p.L1043L|UBR5_ENST00000521922.1_Silent_p.L1037L	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1043					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGCGGGGGCCAGGATAAAAT	0.443000													37	63					1.06647e-15	1.50442e-15	1	1	0
MUC16	94025	broad.mit.edu	37	19	9088965	9088965	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:9088965C>T	ENST00000397910.4	-	1	3053	c.2850G>A	c.(2848-2850)caG>caA	p.Q950Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	950	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTATTGGTCTGTGACATTG	0.478000													31	170					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51634156	51634156	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:51634156A>G	ENST00000335449.6	+	1	331	c.275A>G	c.(274-276)aAc>aGc	p.N92S		NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	92					cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCAGCTCGCAACAAGCGCAGC	0.701000													5	52					0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6385113	6385113	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:6385113G>T	ENST00000325203.5	-	3	1003	c.529C>A	c.(529-531)Cag>Aag	p.Q177K	ANGPT2_ENST00000523120.1_Missense_Mutation_p.Q177K|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.Q125K|ANGPT2_ENST00000415216.1_Missense_Mutation_p.Q177K			O15123	ANGP2_HUMAN	angiopoietin 2	177					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TCACTGGTCTGGTCCAAAATC	0.353000													11	25					1.36491e-13	1.83472e-13	1	1	0
ATP8B4	79895	broad.mit.edu	37	15	50215579	50215579	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:50215579G>T	ENST00000284509.6	-	17	1896	c.1755C>A	c.(1753-1755)ctC>ctA	p.L585L	ATP8B4_ENST00000559829.1_Silent_p.L585L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	585					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CACTTACACTGAGGTGGTCTG	0.393000													9	63					0.000442599	0.000472531	1	1	0
FAM47B	170062	broad.mit.edu	37	X	34962228	34962228	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:34962228C>A	ENST00000329357.5	+	1	1316	c.1280C>A	c.(1279-1281)cCt>cAt	p.P427H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	427										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGCCCGGAGCCTACCAAGACC	0.542000													38	47					6.97489e-18	1.01677e-17	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139180142	139180142	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:139180142C>T	ENST00000395297.1	-	12	1424	c.1254G>A	c.(1252-1254)gcG>gcA	p.A418A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	418										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACAAACCTGTCGCAGGGCAGT	0.507000										HNSCC(54;0.14)			35	162					0	0	1	0	0
MRPL53	116540	broad.mit.edu	37	2	74699247	74699247	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:74699247C>T	ENST00000258105.7	-	3	999	c.338G>A	c.(337-339)tGa>tAa	p.*113*	MRPL53_ENST00000409710.1_3'UTR	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	0						mitochondrion|ribosome		p.*113L(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						TTGGCGCTGTCAGCGACCAGT	0.547000													9	102					0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102358500	102358500	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:102358500G>A	ENST00000332238.4	+	1	135	c.111G>A	c.(109-111)gcG>gcA	p.A37A		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTACTTTGCGAGCATGATGG	0.418000													40	267					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89034607	89034607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:89034607C>A	ENST00000237612.3	-	9	1587	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	ABCG2_ENST00000515655.1_Nonsense_Mutation_p.E348*	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	348					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TGATGTAATTCAGCTTTTGTC	0.438000													65	149					6.26901e-30	9.73139e-30	1	1	0
ASIC2	40	broad.mit.edu	37	17	32483003	32483003	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:32483003G>A	ENST00000359872.6	-	1	1310	c.549C>T	c.(547-549)ttC>ttT	p.F183F		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	183					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TCACTGTGGTGAAGTCTTGGT	0.542000													7	109					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165949021	165949021	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:165949021C>A	ENST00000360093.3	-	27	5041	c.4550G>T	c.(4549-4551)gGa>gTa	p.G1517V	SCN3A_ENST00000409101.3_Missense_Mutation_p.G1468V|SCN3A_ENST00000283254.7_Missense_Mutation_p.G1517V|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000540861.1_5'UTR	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1517						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAAGACCATTCCTTGGAATTT	0.363000													16	42					0.00121646	0.00127849	1	1	0
DLAT	1737	broad.mit.edu	37	11	111915889	111915889	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:111915889G>C	ENST00000280346.6	+	9	1884	c.1225G>C	c.(1225-1227)Ggt>Cgt	p.G409R	DLAT_ENST00000393051.1_Missense_Mutation_p.G304R|DLAT_ENST00000537636.1_Missense_Mutation_p.G180R	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	409					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GCCTCCCACAGGTCCTGGAAT	0.478000													17	264					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16902312	16902312	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:16902312C>T	ENST00000524140.2	+	14	3510	c.3092C>T	c.(3091-3093)aCg>aTg	p.T1031M	NWD1_ENST00000549814.1_Missense_Mutation_p.T1031M|NWD1_ENST00000523826.1_Missense_Mutation_p.T825M|NWD1_ENST00000379808.3_Missense_Mutation_p.T1031M|NWD1_ENST00000339803.6_Missense_Mutation_p.T896M|NWD1_ENST00000552788.1_Missense_Mutation_p.T1031M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1031							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTCAGCTACGGGAAAACTT	0.542000													32	62					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33212596	33212596	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:33212596C>T	ENST00000396033.2	-	7	994	c.859G>A	c.(859-861)Gat>Aat	p.D287N	ITGB1_ENST00000302278.3_Missense_Mutation_p.D287N|ITGB1_ENST00000423113.1_Missense_Mutation_p.D287N|ITGB1_ENST00000374956.4_Missense_Mutation_p.D287N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	287	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AGTTTCCCATCTCCAGCAAAG	0.408000													10	37					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84685072	84685072	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:84685072G>A	ENST00000284136.6	-	7	865	c.822C>T	c.(820-822)tcC>tcT	p.S274S	SEMA3D_ENST00000444867.1_Silent_p.S274S	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	274	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGGTTTTATCGGAGGTACTGC	0.274000													10	61					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103358466	103358466	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:103358466C>T	ENST00000520539.1	-	7	1340	c.734G>A	c.(733-735)gGa>gAa	p.G245E	UBR5_ENST00000220959.4_Missense_Mutation_p.G245E|UBR5_ENST00000521922.1_Missense_Mutation_p.G245E	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	245					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCACCAACCTCCAGGCAAATA	0.408000													22	248					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28032203	28032203	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:28032203C>A	ENST00000375790.5	-	2	574	c.142G>T	c.(142-144)Ggc>Tgc	p.G48C	MKX_ENST00000419761.1_Missense_Mutation_p.G48C			Q8IYA7	MKX_HUMAN	mohawk homeobox	48					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						AGGGGCGGGCCGTCGGGAATG	0.746000													4	17					0.00909568	0.00933471	1	1	0
ACAD10	80724	broad.mit.edu	37	12	112184978	112184978	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:112184978G>A	ENST00000455480.2	+	16	2652	c.2475G>A	c.(2473-2475)atG>atA	p.M825I	ACAD10_ENST00000313698.4_Missense_Mutation_p.M794I|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.M396I	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	794							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GTTTTGCTATGACCGAGCCCC	0.637000													14	60					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027909	37027909	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:37027909C>G	ENST00000358047.3	+	1	1478	c.1426C>G	c.(1426-1428)Ccg>Gcg	p.P476A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	476										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCATCTCTGCCCGGAGCCTCC	0.622000													30	74					0	0	1	0	0
CYP27C1	339761	broad.mit.edu	37	2	127950719	127950719	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:127950719C>A	ENST00000335247.7	-	7	1083	c.953G>T	c.(952-954)tGc>tTc	p.C318F	CYP27C1_ENST00000409327.1_Missense_Mutation_p.C318F	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	318						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CCGCCCTATGCAGCTGCGAAC	0.562000													21	55					2.37509e-13	3.16395e-13	1	1	0
PDK1	5163	broad.mit.edu	37	2	173460638	173460638	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:173460638G>T	ENST00000410055.1	+	11	1352	c.1252G>T	c.(1252-1254)Gat>Tat	p.D418Y	PDK1_ENST00000392571.2_Missense_Mutation_p.D438Y|PDK1_ENST00000544863.1_Missense_Mutation_p.D263Y|PDK1_ENST00000543905.1_Missense_Mutation_p.D342Y|PDK1_ENST00000282077.2_Missense_Mutation_p.D418Y	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	418					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCACGAGGCTGATGACTGGTG	0.473000									Autosomal Dominant Polycystic Kidney Disease				15	40					0.000308642	0.000330943	1	1	0
SLC22A9	114571	broad.mit.edu	37	11	63137793	63137793	+	Missense_Mutation	SNP	C	C	T	rs143461929	by1000genomes	TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:63137793C>T	ENST00000279178.3	+	1	514	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	SLC22A9_ENST00000310969.4_Missense_Mutation_p.R89C	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	89					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGAGAAGTGTCGTCGCTTTGT	0.537000													35	133					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48918700	48918700	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:48918700G>A	ENST00000371847.3	-	2	319	c.155C>T	c.(154-156)cCc>cTc	p.P52L	SPATA6_ENST00000371843.3_Missense_Mutation_p.P52L|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000396199.3_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	52					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAAGACCAGGGGAAAAGTGGC	0.388000													18	76					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782205	107782205	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:107782205G>T	ENST00000311955.3	-	1	268	c.214C>A	c.(214-216)Cac>Aac	p.H72N		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	72					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCTTTCTGGTGTGAAGTAGGG	0.577000													35	148					3.33393e-15	4.66751e-15	1	1	0
ATG5	9474	broad.mit.edu	37	6	106756347	106756347	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:106756347C>A	ENST00000369076.3	-	3	451	c.128G>T	c.(127-129)aGt>aTt	p.S43I	ATG5_ENST00000360666.4_Intron|ATG5_ENST00000343245.3_Missense_Mutation_p.S43I|ATG5_ENST00000369070.1_Intron	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	43					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CGTCAAATAACTTACTCTTGG	0.294000													35	33					3.90053e-15	5.43e-15	1	1	0
FBLN7	129804	broad.mit.edu	37	2	112942863	112942863	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:112942863C>T	ENST00000331203.2	+	7	1165	c.894C>T	c.(892-894)agC>agT	p.S298S	FBLN7_ENST00000409903.1_Silent_p.S298S|FBLN7_ENST00000409667.3_Silent_p.S164S|FBLN7_ENST00000409450.3_Silent_p.S252S	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	298	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGTGTGTCAGCCCTGAGTGCC	0.597000													28	94					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17742549	17742549	+	Splice_Site	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:17742549A>G	ENST00000380060.3	+	5	1514	c.1177_splice	c.e5+1	p.I392_splice	NHS_ENST00000398097.3_Splice_Site_p.I236_splice	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	392						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AACAAGAAATAGGTGTGATAT	0.393000													31	38					0	0	1	0	0
HMGN5	79366	broad.mit.edu	37	X	80377046	80377046	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:80377046C>A	ENST00000358130.2	-	2	331	c.3G>T	c.(1-3)atG>atT	p.M1I	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	1					chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleolus	chromatin binding|DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						TTCTTTTGGGCATTGTTGTAG	0.393000													8	24					0.000157383	0.000170479	1	1	0
KAT5	10524	broad.mit.edu	37	11	65480896	65480896	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:65480896G>C	ENST00000341318.4	+	4	696	c.462G>C	c.(460-462)gaG>gaC	p.E154D	KAT5_ENST00000530446.1_Intron|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000352980.4_Intron|KAT5_ENST00000377046.3_Missense_Mutation_p.E121D|KAT5_ENST00000534650.1_Intron	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	121					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						TGCCCAAGGAGCGGGAGGCCA	0.652000													14	69					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581574	82581574	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:82581574C>G	ENST00000423517.2	-	5	9032	c.8695G>C	c.(8695-8697)Gat>Cat	p.D2899H	PCLO_ENST00000333891.8_Missense_Mutation_p.D2899H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2830					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			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						GTACTGAGATCCACTACTTCC	0.428000													39	142					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329111	152329111	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:152329111C>A	ENST00000388718.5	-	3	1223	c.1151G>T	c.(1150-1152)gGg>gTg	p.G384V	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	384	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTCCAGACCCATATTGTCC	0.438000													57	132					9.53978e-28	1.47163e-27	1	1	0
RFWD2	64326	broad.mit.edu	37	1	176132088	176132088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:176132088C>A	ENST00000367669.3	-	5	1193	c.679G>T	c.(679-681)Gga>Tga	p.G227*	RFWD2_ENST00000308769.8_Nonsense_Mutation_p.G223*	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	227					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGGTCAGTTCCCAACCAATCT	0.378000													29	45					5.61819e-17	8.04767e-17	1	1	0
VRK1	7443	broad.mit.edu	37	14	97313603	97313603	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:97313603G>T	ENST00000216639.3	+	5	445	c.296G>T	c.(295-297)tGg>tTg	p.W99L		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	99	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		GTTCAGAAATGGATTCGTACC	0.303000													10	45					7.03913e-09	8.54833e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179473378	179473378	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:179473378C>A	ENST00000589042.1	-	274	52584	c.52360G>T	c.(52360-52362)Ggt>Tgt	p.G17454C	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8514C|TTN_ENST00000591111.1_Missense_Mutation_p.G15813C|TTN_ENST00000460472.2_Missense_Mutation_p.G8389C|TTN_ENST00000342992.6_Missense_Mutation_p.G14886C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8581C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15813	Ig-like 103.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGGTGGACCTGGCCCAAAT	0.383000													6	28					0.0215528	0.0219071	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14763769	14763769	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr18:14763769C>A	ENST00000358984.4	+	7	1085	c.905C>A	c.(904-906)aCa>aAa	p.T302K	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.T302K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	302										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTGGAAAAAACACCTGACGAG	0.488000													10	40					2.80697e-09	3.45402e-09	1	1	0
BLM	641	broad.mit.edu	37	15	91337466	91337466	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:91337466G>T	ENST00000355112.3	+	16	3207	c.3089G>T	c.(3088-3090)tGt>tTt	p.C1030F	BLM_ENST00000560509.1_Missense_Mutation_p.C1030F|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	1030					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GTACATTACTGTGAAAATATA	0.333000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				5	62					0.014758	0.0150212	1	1	0
TCHH	7062	broad.mit.edu	37	1	152082391	152082391	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:152082391C>G	ENST00000368804.1	-	2	3301	c.3302G>C	c.(3301-3303)aGa>aCa	p.R1101T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1101	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCGCCTTCTCTTCTCCGG	0.617000													38	237					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35035347	35035347	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:35035347G>T	ENST00000231420.6	-	5	761	c.561C>A	c.(559-561)aaC>aaA	p.N187K		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	187					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TGATGTCTATGTTGTTTGAGT	0.448000													24	157					1.10923e-09	1.37864e-09	1	1	0
SYCP2L	221711	broad.mit.edu	37	6	10894153	10894153	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:10894153A>T	ENST00000283141.6	+	3	428	c.132A>T	c.(130-132)aaA>aaT	p.K44N	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	44						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGAAAATAAAAGAATACTTTC	0.323000													8	27					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973523	29973523	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:29973523G>T	ENST00000378993.1	+	11	2350	c.1677G>T	c.(1675-1677)atG>atT	p.M559I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.M559I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	559	Interaction with NCS1.|TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGTATGAAATGCCTTTTAAGA	0.468000													18	34					6.94344e-10	8.68809e-10	1	1	0
CYP51A1	1595	broad.mit.edu	37	7	91761088	91761088	+	Splice_Site	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:91761088C>G	ENST00000003100.8	-	2	456	c.291_splice	c.e2+1	p.K97_splice	CYP51A1_ENST00000450723.1_5'UTR|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	91					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	GAAGACTTACCTTCTCATATG	0.313000													5	30					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678459	130678459	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:130678459G>T	ENST00000338616.3	+	1	510	c.412G>T	c.(412-414)Ggc>Tgc	p.G138C		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					GGTTATGAATGGCCCAGTATG	0.537000													66	125					5.45122e-27	8.37434e-27	1	1	0
OBSL1	23363	broad.mit.edu	37	2	220422584	220422584	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:220422584G>A	ENST00000404537.1	-	11	3807	c.3751C>T	c.(3751-3753)Ccc>Tcc	p.P1251S	OBSL1_ENST00000265317.5_Missense_Mutation_p.P242S|OBSL1_ENST00000373876.1_Missense_Mutation_p.P1251S|OBSL1_ENST00000603926.1_Missense_Mutation_p.P1251S|OBSL1_ENST00000265318.4_Missense_Mutation_p.P1159S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1251	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGGGCTCCGGGGGCTGCTCCA	0.662000													5	57					0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25655784	25655784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:25655784C>A	ENST00000376436.1	-	4	2679	c.2140G>T	c.(2140-2142)Gaa>Taa	p.E714*	ZNF337_ENST00000252979.5_Nonsense_Mutation_p.E714*|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Nonsense_Mutation_p.E682*|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTTGGCATTCATAAGGCCTC	0.443000													27	230					3.99451e-17	5.76639e-17	1	1	0
C9orf43	257169	broad.mit.edu	37	9	116176170	116176170	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:116176170G>T	ENST00000288462.4	+	3	729	c.283G>T	c.(283-285)Ggc>Tgc	p.G95C	C9orf43_ENST00000490544.1_3'UTR|C9orf43_ENST00000374165.1_Missense_Mutation_p.G95C	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	95										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CAAATTTCATGGCAGGTAAAT	0.348000													14	42					1.05317e-09	1.31337e-09	1	1	0
EDNRB	1910	broad.mit.edu	37	13	78472344	78472344	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:78472344G>C	ENST00000377211.4	-	8	1742	c.1590C>G	c.(1588-1590)agC>agG	p.S530R	EDNRB_ENST00000334286.5_Missense_Mutation_p.S440R|EDNRB_ENST00000446573.1_Intron	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	440					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TTCAAGATGAGCTGTATTTAT	0.328000													7	34					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2748603	2748603	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:2748603G>T	ENST00000382611.6	-	3	1467	c.1219C>A	c.(1219-1221)Ctc>Atc	p.L407I	IRX2_ENST00000302057.5_Missense_Mutation_p.L407I	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	407						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TACCGCAGGAGACCCTGGCCC	0.716000													7	43					0.27861	0.279363	1	1	0
PRDX3	10935	broad.mit.edu	37	10	120931985	120931985	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:120931985C>G	ENST00000298510.2	-	5	502	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R	PRDX3_ENST00000356951.3_Missense_Mutation_p.G136R	NM_006793.2	NP_006784.1	P30048	PRDX3_HUMAN	peroxiredoxin 3	154	Thioredoxin.				cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		TTCATGTGGCCCAAACCACCA	0.443000													31	110					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140631312	140631312	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:140631312G>A	ENST00000520439.1	-	2	377	c.314C>T	c.(313-315)gCg>gTg	p.A105V	KCNK9_ENST00000303015.1_Missense_Mutation_p.A105V			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	105						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGCCTTGCCCGCATCGGTGCC	0.612000													10	49					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168066	64168066	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:64168066C>G	ENST00000395391.1	+	4	2759	c.1384C>G	c.(1384-1386)Cat>Gat	p.H462D	ZNF107_ENST00000423627.1_Missense_Mutation_p.H462D|ZNF107_ENST00000344930.3_Missense_Mutation_p.H462D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TAAGAAAATTCATACTGGAGA	0.358000													12	32					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204951083	204951083	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:204951083A>C	ENST00000367172.4	+	21	2733	c.2405A>C	c.(2404-2406)cAg>cCg	p.Q802P	NFASC_ENST00000539706.1_Missense_Mutation_p.Q798P|NFASC_ENST00000367170.4_Missense_Mutation_p.Q802P|NFASC_ENST00000513543.1_Missense_Mutation_p.Q798P|NFASC_ENST00000367169.4_Missense_Mutation_p.Q802P|NFASC_ENST00000339876.6_Missense_Mutation_p.Q802P|NFASC_ENST00000338515.6_Missense_Mutation_p.Q802P|NFASC_ENST00000404907.1_Missense_Mutation_p.Q798P|NFASC_ENST00000401399.1_Missense_Mutation_p.Q802P|NFASC_ENST00000338586.6_Missense_Mutation_p.Q802P|NFASC_ENST00000360049.4_Missense_Mutation_p.Q798P|NFASC_ENST00000367171.4_Missense_Mutation_p.Q787P|NFASC_ENST00000404076.1_Missense_Mutation_p.Q781P			O94856	NFASC_HUMAN	neurofascin	802	Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ATCCGAGTCCAGGCTGAAAAT	0.602000													16	27					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320316	79320316	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:79320316G>T	ENST00000428286.1	-	8	6997	c.5797C>A	c.(5797-5799)Ctg>Atg	p.L1933M	PRUNE2_ENST00000376718.3_Missense_Mutation_p.L2292M			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2292					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTATATCCAGACAAGTGTCT	0.463000													15	40					9.16793e-09	1.10972e-08	1	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160253823	160253823	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:160253823C>T	ENST00000264431.4	+	11	2045	c.1626C>T	c.(1624-1626)atC>atT	p.I542I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	542					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AGACTCGGATCAGTATCTTGC	0.353000													6	43					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123151364	123151364	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:123151364G>C	ENST00000264501.4	+	26	3694	c.3321G>C	c.(3319-3321)aaG>aaC	p.K1107N	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.K1107N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.K1107N			Q2LD37	K1109_HUMAN	KIAA1109	1107					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCAGAACTAAGAGGTAGGTGA	0.348000													12	111					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712893	70712893	+	RNA	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:70712893G>T	ENST00000530196.1	-	0	1625					NR_003951.1																						TGTCACTACAGGGGATCCCGT	0.433000													16	70					8.00594e-06	8.91953e-06	1	1	0
VN1R4	317703	broad.mit.edu	37	19	53770224	53770224	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:53770224G>T	ENST00000311170.4	-	1	748	c.695C>A	c.(694-696)aCg>aAg	p.T232K		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	232					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GATGCTCTGCGTAGCTCTGTT	0.502000										HNSCC(26;0.072)			3	22					0.000602214	0.000641095	1	1	0
KRT7	3855	broad.mit.edu	37	12	52639236	52639236	+	Missense_Mutation	SNP	G	G	T	rs143767577		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:52639236G>T	ENST00000331817.5	+	7	1208	c.1025G>T	c.(1024-1026)cGt>cTt	p.R342L	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	342	Coil 2.|Rod.			R -> C (in Ref. 1; CAA26956 and 2; CAA31695).	cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GCTGAGGAGCGTGGGGAGCTG	0.657000													24	43					7.87624e-14	1.0684e-13	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189875486	189875486	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:189875486G>T	ENST00000304636.3	+	50	4294	c.4124G>T	c.(4123-4125)aGc>aTc	p.S1375I	COL3A1_ENST00000317840.5_Missense_Mutation_p.S1072I	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1375	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGCAAAAATAGCATTGCATAC	0.448000													33	84					3.80469e-20	5.66884e-20	1	1	0
RRP8	23378	broad.mit.edu	37	11	6622513	6622513	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:6622513C>A	ENST00000254605.6	-	3	900	c.783G>T	c.(781-783)ggG>ggT	p.G261G	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	261					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CACTGCTGGGCCCTGAGTACA	0.607000													9	22					0.00448238	0.00464515	1	1	0
ITM2A	9452	broad.mit.edu	37	X	78618150	78618150	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:78618150G>C	ENST00000434584.2	-	3	684	c.348C>G	c.(346-348)tgC>tgG	p.C116W	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Missense_Mutation_p.C160W	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	160						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCATCAGATAGCAGTTCCCCA	0.413000													23	22					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107492114	107492114	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:107492114A>T	ENST00000415149.2	+	11	1873	c.1546A>T	c.(1546-1548)Agt>Tgt	p.S516C	BBX_ENST00000325805.8_Missense_Mutation_p.S516C|BBX_ENST00000402543.1_Missense_Mutation_p.S516C|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.S516C	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	516	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CACATCCTCAAGTGGCAAGGG	0.458000													33	80					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121746477	121746477	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:121746477C>A	ENST00000261819.3	-	17	2195	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*	ANAPC5_ENST00000344395.4_Nonsense_Mutation_p.E580*|ANAPC5_ENST00000535482.1_Nonsense_Mutation_p.E358*|ANAPC5_ENST00000441917.2_Nonsense_Mutation_p.E580*|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Nonsense_Mutation_p.E679*	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	692					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.E692*(1)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGAGGTTCTCGATGGCAGCC	0.448000													37	113					9.62906e-15	1.33547e-14	1	1	0
IFT46	56912	broad.mit.edu	37	11	118425244	118425244	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:118425244G>C	ENST00000264020.2	-	8	943	c.566C>G	c.(565-567)tCt>tGt	p.S189C	IFT46_ENST00000264021.3_Missense_Mutation_p.S138C|IFT46_ENST00000530872.1_Missense_Mutation_p.S189C	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	138					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CTGCTTTGTAGAAGGTTCATC	0.448000													22	137					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40704242	40704242	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:40704242A>G	ENST00000372771.4	+	8	3895	c.3868A>G	c.(3868-3870)Agc>Ggc	p.S1290G		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1290					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGCAGAGGTAGCAGGCGAAC	0.373000													11	49					0	0	1	0	0
GAPDHS	26330	broad.mit.edu	37	19	36024471	36024471	+	Silent	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:36024471C>G	ENST00000222286.4	+	1	158	c.42C>G	c.(40-42)gtC>gtG	p.V14V		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	14					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	TCACCGTTGTCCAGTTGCTGC	0.627000													15	69					0	0	1	0	0
IFNA8	3445	broad.mit.edu	37	9	21409616	21409616	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:21409616C>G	ENST00000380205.1	+	1	471	c.441C>G	c.(439-441)ttC>ttG	p.F147L		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	147					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		GGAAATACTTCCAAAGAATCA	0.468000													94	230					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27507072	27507072	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:27507072C>A	ENST00000396271.3	-	7	792	c.666G>T	c.(664-666)ttG>ttT	p.L222F	ACBD5_ENST00000375905.4_Missense_Mutation_p.L187F|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375888.1_Missense_Mutation_p.L231F|ACBD5_ENST00000375901.1_Missense_Mutation_p.L113F	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	231					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAATGACTTCCAAATTCTTAT	0.383000													43	135					6.57855e-14	8.95648e-14	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1058239	1058239	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:1058239A>G	ENST00000263094.6	+	37	5351	c.5120A>G	c.(5119-5121)cAg>cGg	p.Q1707R	ABCA7_ENST00000435683.2_Missense_Mutation_p.Q1569R|ABCA7_ENST00000433129.1_Missense_Mutation_p.Q1707R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1707					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCGGAACCAGGCCATGGCT	0.552000													6	56					0	0	1	0	0
TSPAN14	81619	broad.mit.edu	37	10	82267105	82267105	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:82267105G>C	ENST00000429989.2	+	4	477	c.254G>C	c.(253-255)cGg>cCg	p.R85P	TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372158.1_Missense_Mutation_p.R85P|TSPAN14_ENST00000372164.3_Missense_Mutation_p.R68P|TSPAN14_ENST00000341863.6_Missense_Mutation_p.R85P|TSPAN14_ENST00000372156.1_Missense_Mutation_p.R85P	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	85						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGGGCTCTGCGGGAGAATATC	0.567000													4	49					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107602759	107602759	+	Silent	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:107602759C>G	ENST00000374736.3	-	9	1249	c.855G>C	c.(853-855)gtG>gtC	p.V285V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	285					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCAGAAACATCACCTCCTGTC	0.567000													12	33					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50474597	50474597	+	RNA	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:50474597A>G	ENST00000602139.1	+	0	954									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						CGAGCGGAGAACAGGCTTGGC	0.677000													28	114					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113326794	113326794	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:113326794G>T	ENST00000297405.5	-	48	7657	c.7413C>A	c.(7411-7413)agC>agA	p.S2471R	CSMD3_ENST00000455883.2_Missense_Mutation_p.S2367R|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2431R|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2401R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2471	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATATCCAGGGCTCAATATGA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	118					1.05317e-09	1.31337e-09	1	1	0
OR2F2	135948	broad.mit.edu	37	7	143632446	143632446	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:143632446G>T	ENST00000408955.2	+	1	188	c.121G>T	c.(121-123)Ggg>Tgg	p.G41W		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GACAGTGCTGGGGAACTGTCT	0.488000													49	284					2.40228e-13	3.19443e-13	1	1	0
TNFRSF8	943	broad.mit.edu	37	1	12144544	12144544	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:12144544T>G	ENST00000263932.2	+	2	309	c.87T>G	c.(85-87)tgT>tgG	p.C29W	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	29					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACACCTGTCATGGAAACC	0.607000													32	85					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605439	5605439	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrY:5605439A>T	ENST00000215473.6	+	6	3479	c.3479A>T	c.(3478-3480)cAg>cTg	p.Q1160L				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1160					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCACAAGCACAGGCCTCTGCT	0.557000													17	50					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77244077	77244077	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:77244077G>C	ENST00000341514.6	+	3	615	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E154Q	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	154					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGGGACACTGGAGAAAAAGTC	0.428000													40	162					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139609663	139609663	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:139609663G>T	ENST00000358430.3	-	2	606	c.374C>A	c.(373-375)cCc>cAc	p.P125H		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	125						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ATTGCTGACGGGCTCTTTGAC	0.433000													69	166					5.26073e-25	8.01532e-25	1	1	0
SYNJ1	8867	broad.mit.edu	37	21	34022605	34022605	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr21:34022605T>A	ENST00000382499.2	-	23	3042	c.3043A>T	c.(3043-3045)Aat>Tat	p.N1015Y	SYNJ1_ENST00000382491.3_Missense_Mutation_p.N971Y|SYNJ1_ENST00000322229.7_Missense_Mutation_p.N976Y|SYNJ1_ENST00000357345.3_Missense_Mutation_p.N976Y|SYNJ1_ENST00000433931.2_Missense_Mutation_p.N1015Y	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	976	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCTTCCAAATTTTTGATCCAG	0.348000													44	81					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51359578	51359578	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:51359578C>T	ENST00000360617.3	+	2	129	c.129C>T	c.(127-129)gcC>gcT	p.A43A	KLK3_ENST00000593997.1_Silent_p.A43A|KLK3_ENST00000595952.1_Silent_p.A43A|KLK3_ENST00000326003.2_Silent_p.A43A|KLK3_ENST00000597483.1_Silent_p.A43A			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	43	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGCTTGTGGCCTCTCGTGGCA	0.647000													28	133					0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1827358	1827358	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:1827358G>A	ENST00000302787.2	-	7	1429	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	378	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TGCCCGACACGCTGCCTGCAG	0.597000													14	34					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58813176	58813176	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:58813176C>G	ENST00000355431.3	+	13	1400	c.1027C>G	c.(1027-1029)Ctc>Gtc	p.L343V	ARID4A_ENST00000348476.3_Missense_Mutation_p.L343V|ARID4A_ENST00000431317.2_Missense_Mutation_p.L343V|ARID4A_ENST00000395168.3_Missense_Mutation_p.L343V	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	343	ARID.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGATCTCAATCTCTTCAAACT	0.318000													10	58					0	0	1	0	0
SMS	6611	broad.mit.edu	37	X	21990089	21990089	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:21990089G>C	ENST00000404933.2	+	3	497	c.245G>C	c.(244-246)gGc>gCc	p.G82A	SMS_ENST00000415881.2_Intron|SMS_ENST00000478094.1_Intron|SMS_ENST00000379404.1_Intron	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	82					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GATGCGCAAGGCAAAGAAGAG	0.368000													20	28					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31006973	31006973	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:31006973C>T	ENST00000215838.3	+	2	674	c.180C>T	c.(178-180)ctC>ctT	p.L60L	TCN2_ENST00000407817.3_Silent_p.L60L|TCN2_ENST00000405742.3_Silent_p.L60L			P20062	TCO2_HUMAN	transcobalamin II	60					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCTACGCCTCTCCAGTCTGC	0.562000													39	243					0	0	1	0	0
C16orf82	162083	broad.mit.edu	37	16	27078297	27078297	+	RNA	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:27078297C>G	ENST00000505035.1	+	0	270				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			CATTCAGAGGCCTCCCAGGGC	0.542000													14	102					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123171516	123171516	+	Splice_Site	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:123171516G>C	ENST00000264501.4	+	37	6083		c.e37-1		KIAA1109_ENST00000455637.1_Splice_Site|KIAA1109_ENST00000388738.3_Splice_Site			Q2LD37	K1109_HUMAN	KIAA1109						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATTTTTATAGGAGGAAGACA	0.308000													16	45					0	0	1	0	0
SMIM21	284274	broad.mit.edu	37	18	73122772	73122772	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr18:73122772G>A	ENST00000382638.3	-	2	292	c.222C>T	c.(220-222)ccC>ccT	p.P74P	RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000579022.1_3'UTR					small integral membrane protein 21																		ATCTTGAGCAGGGGAAATCCA	0.403000													10	36					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	479949	479949	+	Splice_Site	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:479949A>G	ENST00000264938.3	-	10	1657		c.e10+1		CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA|SLC9A3_ENST00000514375.1_Splice_Site	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3							cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGGCTCTGCTACCTCAGCCAC	0.647000													39	66					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27124528	27124528	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr21:27124528G>T	ENST00000354828.3	+	5	1063	c.536G>T	c.(535-537)cGc>cTc	p.R179L	GABPA_ENST00000400075.3_Missense_Mutation_p.R179L|GABPA_ENST00000487266.1_3'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	179	PNT.				positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAACAAGAACGCCTTGGGATA	0.378000													15	39					2.23348e-06	2.52629e-06	1	1	0
CR2	1380	broad.mit.edu	37	1	207647620	207647620	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:207647620C>G	ENST00000367057.3	+	13	2464	c.2275C>G	c.(2275-2277)Caa>Gaa	p.Q759E	CR2_ENST00000458541.2_Missense_Mutation_p.Q673E|CR2_ENST00000367059.3_Missense_Mutation_p.Q700E|CR2_ENST00000367058.3_Missense_Mutation_p.Q700E	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	831	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCAGATGTGTCAAGATGCTGA	0.368000													37	116					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70034769	70034769	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:70034769C>G	ENST00000370598.1	+	21	3641	c.2820C>G	c.(2818-2820)atC>atG	p.I940M	BAI3_ENST00000238918.8_Missense_Mutation_p.I146M	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	940					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CACAGAGTATCTGCACAACCA	0.408000													20	50					0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79945122	79945122	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:79945122C>T	ENST00000438737.2	-	5	1032	c.592G>A	c.(592-594)Gat>Aat	p.D198N	RBM26_ENST00000267229.7_Missense_Mutation_p.D198N|RBM26_ENST00000438724.1_Missense_Mutation_p.D198N			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	198	Arg-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CTGCTTCTATCTCTGTCCCTC	0.413000													50	157					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85654535	85654535	+	Splice_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:85654535C>A	ENST00000322366.6	-	44	7628	c.7221_splice	c.e44+1	p.A2407_splice	WDFY3_ENST00000295888.4_Splice_Site_p.A2407_splice			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2407						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.A2407A(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCATACTCACCGCCACATTTG	0.388000													78	243					1.3515e-34	2.13819e-34	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228495094	228495094	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:228495094C>G	ENST00000570156.2	+	57	15273	c.15199C>G	c.(15199-15201)Cat>Gat	p.H5067D	OBSCN_ENST00000284548.11_Missense_Mutation_p.H4110D|OBSCN_ENST00000422127.1_Missense_Mutation_p.H4110D|OBSCN_ENST00000366709.4_Missense_Mutation_p.H1229D|OBSCN_ENST00000366707.4_Missense_Mutation_p.H1744D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4110					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGTGGAGCTGCATGCGGGCCC	0.647000													4	40					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240975310	240975310	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:240975310C>A	ENST00000366565.1	-	14	1371	c.990G>T	c.(988-990)tgG>tgT	p.W330C	RGS7_ENST00000366563.1_Missense_Mutation_p.W330C|RGS7_ENST00000366562.4_Missense_Mutation_p.W330C|RGS7_ENST00000348120.2_Missense_Mutation_p.W277C|RGS7_ENST00000401882.1_Missense_Mutation_p.W277C|RGS7_ENST00000407727.1_Missense_Mutation_p.W330C|RGS7_ENST00000331110.7_Missense_Mutation_p.W304C|RGS7_ENST00000366564.1_Missense_Mutation_p.W330C|RGS7_ENST00000446183.2_Missense_Mutation_p.W246C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	330					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGCCAAAACCCCATCGTTTTA	0.378000													12	167					7.93312e-07	9.08391e-07	1	1	0
CALN1	83698	broad.mit.edu	37	7	71275423	71275423	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:71275423A>T	ENST00000395275.2	-	6	944	c.556T>A	c.(556-558)Ttc>Atc	p.F186I	CALN1_ENST00000329008.5_Missense_Mutation_p.F144I|CALN1_ENST00000431984.1_Missense_Mutation_p.F144I|CALN1_ENST00000412588.1_Missense_Mutation_p.F186I|CALN1_ENST00000405452.2_Missense_Mutation_p.F144I|CALN1_ENST00000395276.2_Missense_Mutation_p.F144I	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	144						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGTCTCGGAAGGCATGATAG	0.448000													37	105					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462382	5462382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:5462382G>T	ENST00000296564.7	+	13	3157	c.2935G>T	c.(2935-2937)Gga>Tga	p.G979*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	979										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGCAGTGCAGGGAGATGGGCA	0.478000													7	54					1.26484e-09	1.56942e-09	1	1	0
PAX4	5078	broad.mit.edu	37	7	127255149	127255149	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:127255149C>A	ENST00000463946.1	-	1	575	c.115G>T	c.(115-117)Gta>Tta	p.V39L	PAX4_ENST00000338516.3_Splice_Site_p.V49_splice|PAX4_ENST00000378740.2_Splice_Site_p.V41_splice|PAX4_ENST00000341640.2_Splice_Site_p.V41_splice			O43316	PAX4_HUMAN	paired box 4	49	Paired.		R -> Q.		cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCATTAGATACCTGAGTCAGG	0.552000													19	89					4.63292e-17	6.67501e-17	1	1	0
SLC35F1	222553	broad.mit.edu	37	6	118635412	118635412	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:118635412C>T	ENST00000360388.4	+	8	1425	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	408					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTCGTGTGGCCTAGGGTGAGG	0.547000													52	69					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46318015	46318015	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:46318015C>A	ENST00000221538.3	-	1	562	c.420G>T	c.(418-420)gaG>gaT	p.E140D	RSPH6A_ENST00000597055.1_Missense_Mutation_p.E140D	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	140						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TGACTGGGGGCTCCTGGAAGG	0.617000													9	52					1.76689e-08	2.12485e-08	1	1	0
MPDZ	8777	broad.mit.edu	37	9	13162778	13162778	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr9:13162778C>A	ENST00000319217.7	-	23	3518	c.3271G>T	c.(3271-3273)Gca>Tca	p.A1091S	MPDZ_ENST00000541718.1_Missense_Mutation_p.A1091S|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1091S|MPDZ_ENST00000538841.1_5'UTR|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1105S|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1091S|MPDZ_ENST00000381022.2_Missense_Mutation_p.A1091S|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1091S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1091					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAATGTTCTGCAGGCACATAA	0.358000													16	36					6.94344e-10	8.68809e-10	1	1	0
ZEB1	6935	broad.mit.edu	37	10	31815804	31815804	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:31815804C>T	ENST00000446923.2	+	9	3330	c.2939C>T	c.(2938-2940)aCa>aTa	p.T980I	ZEB1_ENST00000320985.10_Missense_Mutation_p.T996I|ZEB1_ENST00000361642.5_Missense_Mutation_p.T997I|ZEB1_ENST00000542815.3_Missense_Mutation_p.T929I|ZEB1_ENST00000560721.2_Missense_Mutation_p.T976I	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	996					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CGTGACAGCACAGAGCAGGAA	0.532000													6	59					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72969994	72969994	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:72969994C>A	ENST00000262209.4	-	9	1258	c.1051G>T	c.(1051-1053)Gct>Tct	p.A351S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	351						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATGCAGAAGCAGTTGCTAAT	0.378000													15	81					2.23348e-06	2.52629e-06	1	1	0
MUC16	94025	broad.mit.edu	37	19	9070865	9070865	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:9070865G>T	ENST00000397910.4	-	3	16784	c.16581C>A	c.(16579-16581)agC>agA	p.S5527R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5529	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5527S(2)|p.S1160S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGATGTTCTGCTAGAGGAGA	0.493000													23	79					6.21321e-17	8.88286e-17	1	1	0
ATXN1	6310	broad.mit.edu	37	6	16328141	16328141	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:16328141T>A	ENST00000244769.4	-	8	1337	c.401A>T	c.(400-402)cAa>cTa	p.Q134L	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q134L	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	134					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			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)				TCCACTGTATTGGGAGGACCC	0.662000													33	96					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71663396	71663396	+	Splice_Site	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr16:71663396A>G	ENST00000268485.3	+	2	638	c.595_splice	c.e2+1	p.R198_splice	MARVELD3_ENST00000299952.4_Splice_Site_p.R198_splice|MARVELD3_ENST00000567566.1_Silent_p.R198R|MARVELD3_ENST00000565261.1_Splice_Site_p.E144_splice|MARVELD3_ENST00000567501.1_Splice_Site_p.S12_splice	NM_052858.3	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	198	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCACTGGGAGAGGTGAGCCGT	0.512000													57	82					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186200	101186200	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:101186200C>A	ENST00000294728.2	+	2	334	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	VCAM1_ENST00000347652.2_Missense_Mutation_p.S78Y|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.S78Y	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	78	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGGACCACATCTACGCTGACA	0.468000													27	99					4.87955e-14	6.68013e-14	1	1	0
PUS10	150962	broad.mit.edu	37	2	61180221	61180221	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:61180221C>T	ENST00000316752.6	-	15	1480	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	PUS10_ENST00000407787.1_Missense_Mutation_p.E407K	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	407					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TTTTCTTCTTCACCTTCTTTC	0.318000													24	128					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40916222	40916222	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:40916222G>A	ENST00000346991.5	+	11	4228	c.3838G>A	c.(3838-3840)Gaa>Aaa	p.E1280K	CASC5_ENST00000399668.2_Missense_Mutation_p.E1254K			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1280					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TGCTATGGATGAAAAGGTCAT	0.363000													12	84					0	0	1	0	0
ZPBP	11055	broad.mit.edu	37	7	50070744	50070744	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:50070744T>C	ENST00000046087.2	-	5	719	c.650A>G	c.(649-651)cAt>cGt	p.H217R	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Missense_Mutation_p.H216R	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	217					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTTAACGCGATGGCATTCAGA	0.318000													21	71					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	151668	151668	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:151668T>A	ENST00000283426.6	+	5	928	c.878T>A	c.(877-879)gTa>gAa	p.V293E		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	293					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TTGCTGTTGGTAGATAAAGAA	0.303000													14	62					0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21384501	21384501	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:21384501G>T	ENST00000382932.2	-	3	1189	c.1122C>A	c.(1120-1122)ttC>ttA	p.F374L	SLC7A4_ENST00000403586.1_Missense_Mutation_p.F374L	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	374					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TGAGGAGCCCGAACGCCAGGG	0.637000													12	29					1.5842e-08	1.91134e-08	1	1	0
GAB4	128954	broad.mit.edu	37	22	17449255	17449255	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:17449255G>T	ENST00000400588.1	-	5	1063	c.956C>A	c.(955-957)aCc>aAc	p.T319N	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	319										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				ACCATGCTGGGTGTACTTGCC	0.577000													12	46					3.07112e-06	3.46845e-06	1	1	0
MIR519C	574466	broad.mit.edu	37	19	54189758	54189758	+	RNA	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:54189758T>A	ENST00000385053.1	+	0	36					NR_030188.1																						AAGCGCTTTCTGTTGTCTGAA	0.418000													38	208					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158592898	158592898	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:158592898G>C	ENST00000368148.3	-	43	6175	c.5995C>G	c.(5995-5997)Caa>Gaa	p.Q1999E	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.Q1996E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1999					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGTTGTGTTGAGCAGAAATC	0.507000													77	655					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6710494	6710494	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:6710494C>A	ENST00000309577.6	-	6	923	c.760G>T	c.(760-762)Gag>Tag	p.E254*	CHD4_ENST00000544040.1_Nonsense_Mutation_p.E247*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.E254*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.E251*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	254					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATAGGCACCTCCACAGGGGGA	0.587000													94	235					3.39216e-54	5.4956e-54	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34164514	34164514	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:34164514C>T	ENST00000373381.4	-	24	3940	c.3764G>A	c.(3763-3765)gGa>gAa	p.G1255E	CSMD2_ENST00000373380.1_Missense_Mutation_p.G128E|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1215	Sushi 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTGGGGGTTCCTGGGTCCTC	0.517000													14	41					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6662004	6662004	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:6662004C>G	ENST00000299441.3	-	2	1252	c.841G>C	c.(841-843)Gat>Cat	p.D281H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	281	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATCGGCATCAGATGCGAAC	0.592000													33	77					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20482588	20482588	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:20482588G>T	ENST00000305045.2	-	1	764	c.765C>A	c.(763-765)tgC>tgA	p.C255*		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAACAAAAATGCAAGGGCCAA	0.478000													9	63					0.000274275	0.000294518	1	1	0
SHOX	6473	broad.mit.edu	37	X	595529	595529	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:595529C>G	ENST00000381578.1	+	3	1145	c.454C>G	c.(454-456)Cag>Gag	p.Q152E	SHOX_ENST00000381575.1_Missense_Mutation_p.Q152E|SHOX_ENST00000334060.3_Missense_Mutation_p.Q152E|SHOX_ENST00000554971.1_Missense_Mutation_p.Q152E	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	152					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGCTCAGCCAGCGCCTGGG	0.716000													4	22					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145838696	145838696	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:145838696C>T	ENST00000296702.5	+	4	726	c.688C>T	c.(688-690)Cag>Tag	p.Q230*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.Q230*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	230	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ggcccaggctcaggctcaggc	0.697000													5	58					0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355859	34355859	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:34355859A>G	ENST00000383263.5	+	3	1611	c.941A>G	c.(940-942)aAg>aGg	p.K314R	CHRM5_ENST00000557872.1_Missense_Mutation_p.K314R	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	314					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GATGAGGACAAGCCCGCCACT	0.557000													15	87					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237058772	237058772	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:237058772G>T	ENST00000366577.5	+	31	3914	c.3520G>T	c.(3520-3522)Gct>Tct	p.A1174S	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.A1123S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1174	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CATCCGCCCGGCTCCTGGCTA	0.642000													4	14					0.00909568	0.00933471	1	1	0
TNRC6B	23112	broad.mit.edu	37	22	40711402	40711402	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:40711402G>T	ENST00000454349.2	+	20	5005	c.4794G>T	c.(4792-4794)ctG>ctT	p.L1598L	TNRC6B_ENST00000301923.9_Silent_p.L794L|TNRC6B_ENST00000335727.8_Silent_p.L1488L|TNRC6B_ENST00000402203.1_Silent_p.L794L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1598					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CTACACCGCTGCCCCGCCCAC	0.567000													17	53					1.56452e-12	2.0474e-12	1	1	0
BDNF-AS	497258	broad.mit.edu	37	11	27528442	27528442	+	RNA	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:27528442C>G	ENST00000499008.3	+	0	44				BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000532965.1_RNA	NR_002832.2																						CCGCGGCCATCAGGGTAAGGG	0.662000													5	11					0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49260277	49260277	+	Silent	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:49260277G>C	ENST00000593756.1	+	3	902	c.330G>C	c.(328-330)ctG>ctC	p.L110L	FGF21_ENST00000222157.3_Silent_p.L110L			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	110					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		ATGGGGCCCTGTATGGATCGG	0.582000													9	162					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531633	50531633	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:50531633C>A	ENST00000374144.3	+	3	1331	c.1043C>A	c.(1042-1044)cCc>cAc	p.P348H	C10orf71_ENST00000323868.4_Missense_Mutation_p.P348H			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	348										endometrium(1)	1						ACATCTATACCCTGGGGGTGC	0.597000													8	56					5.18039e-06	5.82402e-06	1	1	0
FZD7	8324	broad.mit.edu	37	2	202899484	202899484	+	Missense_Mutation	SNP	G	G	T	rs140084102		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:202899484G>T	ENST00000286201.1	+	1	175	c.114G>T	c.(112-114)gaG>gaT	p.E38D		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	38					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACCACGGAGAGAAGGGCATCT	0.706000													7	62					0.000157383	0.000170479	1	1	0
BEND3	57673	broad.mit.edu	37	6	107391830	107391830	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:107391830C>G	ENST00000429433.2	-	5	1214	c.565G>C	c.(565-567)Gac>Cac	p.D189H	BEND3_ENST00000369042.1_Missense_Mutation_p.D189H	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	189										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						ATGTTGGGGTCGTTGTCAGTG	0.577000													82	60					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60786732	60786732	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:60786732C>A	ENST00000313421.7	+	13	2135	c.1949C>A	c.(1948-1950)cCc>cAc	p.P650H	CD6_ENST00000346437.4_Missense_Mutation_p.P577H|CD6_ENST00000344028.5_Missense_Mutation_p.P618H|CD6_ENST00000352009.5_Missense_Mutation_p.P583H|CD6_ENST00000452451.2_Missense_Mutation_p.P574H	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	650					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						ACAGGGTCCCCCAGCCCTCAG	0.637000													12	27					2.80697e-09	3.45402e-09	1	1	0
PLBD2	196463	broad.mit.edu	37	12	113822725	113822725	+	Silent	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:113822725G>T	ENST00000280800.3	+	8	1219	c.1188G>T	c.(1186-1188)cgG>cgT	p.R396R	PLBD2_ENST00000545182.2_Intron	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	396					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCGGGAGCCGGGTGCTTACCA	0.667000													5	45					0.184627	0.186132	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1272654	1272654	+	Silent	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:1272654C>T	ENST00000447027.1	+	31	14611	c.14553C>T	c.(14551-14553)ctC>ctT	p.L4851L	MUC5B_ENST00000529681.1_Silent_p.L4848L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4848	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGATCCTCACAGAGCCGA	0.632000													6	120					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271179	1271179	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:1271179C>G	ENST00000447027.1	+	31	13136	c.13078C>G	c.(13078-13080)Ccg>Gcg	p.P4360A	MUC5B_ENST00000529681.1_Missense_Mutation_p.P4357A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4357	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCACTCCGGAGACCAC	0.657000													10	117					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107492115	107492115	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:107492115G>A	ENST00000415149.2	+	11	1874	c.1547G>A	c.(1546-1548)aGt>aAt	p.S516N	BBX_ENST00000325805.8_Missense_Mutation_p.S516N|BBX_ENST00000402543.1_Missense_Mutation_p.S516N|BBX_ENST00000416476.2_Intron|BBX_ENST00000406780.1_Missense_Mutation_p.S516N	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	516	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACATCCTCAAGTGGCAAGGGA	0.458000													32	79					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32843274	32843274	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr22:32843274C>A	ENST00000397452.1	-	4	409	c.299G>T	c.(298-300)gGa>gTa	p.G100V	BPIFC_ENST00000534972.1_5'UTR|BPIFC_ENST00000432451.2_5'UTR|BPIFC_ENST00000300399.3_Missense_Mutation_p.G100V			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	100						extracellular region	lipopolysaccharide binding|phospholipid binding										GATTCCCACTCCAGGCACAAA	0.453000													31	74					1.88708e-17	2.74015e-17	1	1	0
TRIM23	373	broad.mit.edu	37	5	64907537	64907537	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:64907537G>C	ENST00000231524.9	-	4	909	c.538C>G	c.(538-540)Cag>Gag	p.Q180E	TRIM23_ENST00000274327.7_Missense_Mutation_p.Q180E|TRIM23_ENST00000381018.3_Missense_Mutation_p.Q180E	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	180					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ACCTGGTGCTGAGAGCACATA	0.448000													12	170					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21775318	21775318	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:21775318G>C	ENST00000328843.6	+	47	7553	c.7522G>C	c.(7522-7524)Gag>Cag	p.E2508Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.E2501Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2508	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTGTTGCTTGAGAAAGGAAA	0.418000									Kartagener syndrome				8	42					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73552694	73552694	+	Silent	SNP	G	G	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:73552694G>A	ENST00000339362.5	+	16	2733	c.2286G>A	c.(2284-2286)gaG>gaA	p.E762E	NEO1_ENST00000558964.1_Silent_p.E762E|NEO1_ENST00000560262.1_Silent_p.E762E|NEO1_ENST00000261908.6_Silent_p.E762E			Q92859	NEO1_HUMAN	neogenin 1	762	Fibronectin type-III 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCCTCCAGAGAATCAGAACA	0.502000													12	97					0	0	1	0	0
H2AFY	9555	broad.mit.edu	37	5	134678996	134678996	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:134678996C>T	ENST00000511689.1	-	8	1500	c.907G>A	c.(907-909)Gat>Aat	p.D303N	H2AFY_ENST00000312469.4_Missense_Mutation_p.D300N|H2AFY_ENST00000510038.1_Missense_Mutation_p.D303N|H2AFY_ENST00000304332.4_Missense_Mutation_p.D302N|CTC-203F4.1_ENST00000432382.3_Missense_Mutation_p.S93L|H2AFY_ENST00000423969.2_Missense_Mutation_p.D131N|H2AFY_ENST00000512507.1_5'UTR|CTC-203F4.1_ENST00000555438.1_Intron	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	303	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCTTCTTATCATCAGCCAGG	0.493000													28	149					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	96997381	96997381	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr6:96997381G>T	ENST00000369278.4	+	14	1680	c.1614G>T	c.(1612-1614)aaG>aaT	p.K538N		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	538					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										GCACAATCAAGGACTTGCAAG	0.368000													18	111					1.99824e-07	2.34232e-07	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151847985	151847985	+	Splice_Site	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:151847985C>A	ENST00000355193.2	-	52	13163	c.12945_splice	c.e52+1	p.K4315_splice	KMT2C_ENST00000262189.6_Splice_Site_p.K4258_splice					lysine (K)-specific methyltransferase 2C																		CTAATCTCACCTTGTTTTCTG	0.403000													13	40					5.50884e-06	6.15596e-06	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113267557	113267557	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:113267557A>T	ENST00000297405.5	-	62	10206	c.9962T>A	c.(9961-9963)tTc>tAc	p.F3321Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.F3152Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.F3281Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.F3251Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3321	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTAATATGAAAGGAAAATT	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	120					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9001368	9001368	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:9001368A>T	ENST00000299698.7	+	16	2066	c.1886A>T	c.(1885-1887)gAg>gTg	p.E629V	A2ML1_ENST00000539547.1_Missense_Mutation_p.E138V|A2ML1_ENST00000540049.1_3'UTR	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	473						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAAGTGGCTGAGTATGATCAG	0.502000													99	252					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202245742	202245742	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:202245742T>A	ENST00000332624.3	-	16	2697	c.2269A>T	c.(2269-2271)Agc>Tgc	p.S757C		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	757				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAAATTGGGCTGTGGTACACT	0.517000													69	159					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237721	29237721	+	Silent	SNP	C	C	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:29237721C>A	ENST00000382535.3	+	2	1605	c.1236C>A	c.(1234-1236)ggC>ggA	p.G412G	FOXG1_ENST00000313071.4_Silent_p.G412G			P55316	FOXG1_HUMAN	forkhead box G1	412					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TGCTCGCGGGCCAGACCAGTT	0.692000													10	52					0.010729	0.0109958	1	1	0
TTC14	151613	broad.mit.edu	37	3	180324150	180324150	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:180324150C>T	ENST00000412756.2	+	8	1108	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	TTC14_ENST00000382584.4_Missense_Mutation_p.R347C|TTC14_ENST00000296015.4_Missense_Mutation_p.R347C	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	347							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTGGTAGCTCGTGGAGCATT	0.383000													35	88					0	0	1	0	0
ANP32E	81611	broad.mit.edu	37	1	150193058	150193060	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:150193058_150193060delCTT	ENST00000314136.8	-	7	1109_1111	c.740_742delAAG	c.(739-744)gga>g	p.EG247del	ANP32E_ENST00000369116.4_In_Frame_Del_p.EG115del|ANP32E_ENST00000369119.3_In_Frame_Del_p.EG199del|ANP32E_ENST00000369114.5_Splice_Site_p.EG128_splice|ANP32E_ENST00000369115.2_In_Frame_Del_p.EG115del|ANP32E_ENST00000436748.2_In_Frame_Del_p.EG206del|ANP32E_ENST00000533654.1_3'UTR	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	247	Asp/Glu-rich (highly acidic).					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGAAGACCTCCTTCTTCTTAAAG	0.384													7	336	---	---	---	---					
LRRN2	10446	broad.mit.edu	37	1	204587332	204587332	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr1:204587332delG	ENST00000367175.1	-	1	4001	c.1789delC	c.(1789-1791)tgfs	p.L597fs	LRRN2_ENST00000367177.3_Frame_Shift_Del_p.L597fs|LRRN2_ENST00000367176.3_Frame_Shift_Del_p.L597fs			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	597					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCACTTGCAGGCAGGCCCAG	0.647													12	61	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54133807	54133808	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:54133807_54133808insT	ENST00000404125.1	-	26	2925_2926	c.2870_2871insA	c.(2869-2871)gtgfs	p.V957fs	PSME4_ENST00000421748.2_Frame_Shift_Ins_p.V101fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	957					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTATTCACAACCCTCAACAGT	0.337													9	143	---	---	---	---					
IGKV1D-43	28891	broad.mit.edu	37	2	90249300	90249300	+	RNA	DEL	G	G	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:90249300delG	ENST00000468879.1	+	0	437																											AAGGTTCAGCGGCAGTGGATC	0.468													68	375	---	---	---	---					
GLI2	2736	broad.mit.edu	37	2	121742150	121742150	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:121742150delC	ENST00000452319.1	+	12	1847	c.1787delC	c.(1786-1788)acfs	p.T596fs	GLI2_ENST00000314490.11_Frame_Shift_Del_p.T268fs|GLI2_ENST00000361492.4_Frame_Shift_Del_p.T596fs|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	596					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCCACGTCACCAAGAAGCAG	0.617													46	131	---	---	---	---					
NR4A2	4929	broad.mit.edu	37	2	157182345	157182346	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:157182345_157182346insA	ENST00000339562.4	-	8	2069_2070	c.1707_1708insT	c.(1705-1710)ggtacafs	p.T570fs	NR4A2_ENST00000409572.1_Frame_Shift_Ins_p.T570fs|NR4A2_ENST00000409108.2_Frame_Shift_Ins_p.Y535fs|NR4A2_ENST00000429376.1_Frame_Shift_Ins_p.Y472fs|NR4A2_ENST00000426264.1_Frame_Shift_Ins_p.T507fs|NR4A2_ENST00000539077.1_Frame_Shift_Ins_p.T581fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	570					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ATGCGCTGTAGCCCCTGTGTGC	0.485													32	104	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168104791	168104791	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:168104791delC	ENST00000409195.1	+	9	6978	c.6889delC	c.(6889-6891)cafs	p.P2299fs	XIRP2_ENST00000295237.9_Frame_Shift_Del_p.P2299fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.P2077fs|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2124					actin cytoskeleton organization	cell junction	actin binding			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						TCCACCTCCTCCACCACCTTC	0.428													63	135	---	---	---	---					
LRP2	4036	broad.mit.edu	37	2	170115561	170115561	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:170115561delC	ENST00000263816.3	-	17	2772	c.2487delG	c.(2485-2487)cgfs	p.R829fs	LRP2_ENST00000443831.1_Frame_Shift_Del_p.R692fs	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	829					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTACCACCGACCGTGGGTTAT	0.413													47	151	---	---	---	---					
WDFY1	57590	broad.mit.edu	37	2	224746769	224746769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr2:224746769delC	ENST00000233055.4	-	10	1056	c.954delG	c.(952-954)ggfs	p.G318fs		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	318						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		AGACAGCCTGCCCGCATTTCC	0.512													84	293	---	---	---	---					
C3orf35	339883	broad.mit.edu	37	3	37459031	37459031	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:37459031delG	ENST00000426078.1	+	5	844	c.274delG	c.(274-276)ggfs	p.G92fs	C3orf35_ENST00000328376.5_Intron|C3orf35_ENST00000425932.1_Frame_Shift_Del_p.G92fs|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425564.2_Frame_Shift_Del_p.G92fs|C3orf35_ENST00000452017.2_Intron	NM_178342.2	NP_848032.1	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	0						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TAATGTCTTTGGGGCAATCAT	0.413													7	19	---	---	---	---					
PBX2P1	5088	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr3:142895155delC	ENST00000560287.1	+	0	29																											GGCCTCAGGGCCCCCCCCCAG	0.746													3	3	---	---	---	---					
TMEM144	55314	broad.mit.edu	37	4	159133846	159133851	+	In_Frame_Del	DEL	CTTTGG	CTTTGG	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:159133846_159133851delCTTTGG	ENST00000514558.1	+	2	1823_1828	c.27_32delCTTTGG	c.(25-33)act>ac	p.TFG9del	TMEM144_ENST00000509278.1_In_Frame_Del_p.TFG9del|TMEM144_ENST00000296529.6_In_Frame_Del_p.TFG9del			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	9						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CAGACCTAACCTTTGGTTACATCTCC	0.350													14	52	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183609422	183609422	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr4:183609422delC	ENST00000511685.1	+	12	2262	c.2139delC	c.(2137-2139)cafs	p.H713fs	TENM3_ENST00000406950.2_Frame_Shift_Del_p.H713fs|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GAGCCTGCCACCCCCGCTGTG	0.602													7	125	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24491799	24491800	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:24491799_24491800delCA	ENST00000264463.4	-	11	2268_2269	c.1761_1762delTG	c.(1759-1764)tgctfs	p.CA587fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	587	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTGTCACAAGCACACACTCGAA	0.525										HNSCC(23;0.051)			34	146	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													2	4	---	---	---	---					
GLCCI1	113263	broad.mit.edu	37	7	8008992	8008994	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:8008992_8008994delCCT	ENST00000223145.5	+	1	568_570	c.11_13delCCT	c.(10-15)gcc>g	p.AS4del	AC006465.3_ENST00000469183.1_Intron|AC006042.7_ENST00000428660.1_RNA	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	4										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		ATGTCCACTGcctcctcctcctc	0.768													2	4	---	---	---	---					
RP11-467H10.2	0	broad.mit.edu	37	7	76682746	76682747	+	RNA	INS	-	-	T	rs139676054	by1000genomes	TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:76682746_76682747insT	ENST00000459742.1	+	0	58																											GTggccgagagtggtggcttat	0.594													4	6	---	---	---	---					
FEZF1	389549	broad.mit.edu	37	7	121944206	121944207	+	Frame_Shift_Ins	INS	-	-	C	rs151311760	byFrequency	TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:121944206_121944207insC	ENST00000442488.2	-	1	352_353	c.285_286insG	c.(283-288)ccggaafs	p.E96fs	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Frame_Shift_Ins_p.E96fs|FEZF1_ENST00000331178.4_Frame_Shift_Ins_p.E96fs	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	96					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CTGGCCTTCCGCGGCTCGGAGC	0.678													15	41	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	RNA	DEL	C	C	-	rs11353848		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr7:149518533delC	ENST00000378016.2	+	0	12602							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGAGCAGTCCCAGAGCCAG	0.711													4	2	---	---	---	---					
COL22A1	169044	broad.mit.edu	37	8	139611050	139611050	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr8:139611050delC	ENST00000303045.6	-	61	4723	c.4277delG	c.(4276-4278)gcfs	p.G1426fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.G1406fs|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1426	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCCATCAGGCCTGTGTGGCC	0.607										HNSCC(7;0.00092)			24	113	---	---	---	---					
ITIH5	80760	broad.mit.edu	37	10	7679198	7679198	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:7679198delG	ENST00000256861.6	-	5	723	c.645delC	c.(643-645)cgfs	p.R215fs	ITIH5_ENST00000397145.2_Frame_Shift_Del_p.R215fs|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Frame_Shift_Del_p.R215fs	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	215					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CACCTTCCCCGCGCCCACTGC	0.622													20	329	---	---	---	---					
STOX1	219736	broad.mit.edu	37	10	70645962	70645962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:70645962delG	ENST00000298596.6	+	3	2493	c.2410delG	c.(2410-2412)ggfs	p.G804fs	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Frame_Shift_Del_p.G804fs|STOX1_ENST00000421961.2_Frame_Shift_Del_p.G694fs|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	804						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CAAACCCACTGGGCTGCATGC	0.453													24	115	---	---	---	---					
EMX2	2018	broad.mit.edu	37	10	119303052	119303053	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr10:119303052_119303053insT	ENST00000553456.3	+	1	1098_1099	c.274_275insT	c.(274-276)cgcfs	p.R92fs	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Frame_Shift_Ins_p.R92fs	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	92						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GCCGCCGCCGCACGCCCTGGCC	0.723													17	55	---	---	---	---					
MUC5B	727897	broad.mit.edu	37	11	1264845	1264857	+	Frame_Shift_Del	DEL	CCAGCACTCGACT	CCAGCACTCGACT	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:1264845_1264857delCCAGCACTCGACT	ENST00000447027.1	+	31	6802_6814	c.6744_6756delCCAGCACTCGACT	c.(6742-6756)acfs	p.TQHST2248fs	MUC5B_ENST00000529681.1_Frame_Shift_Del_p.TQHST2245fs|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2245	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGGTACCACCCAGCACTCGACTCCAGCCCTTT	0.653													15	112	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14101782	14101782	+	RNA	DEL	T	T	-	rs145316549		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:14101782delT	ENST00000310358.7	+	0	1211							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		Attttttttcttttttttttt	0.443													2	4	---	---	---	---					
C11orf94	143678	broad.mit.edu	37	11	45928763	45928763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:45928763delG	ENST00000449465.1	-	1	70	c.34delC	c.(34-36)ggfs	p.R12fs		NM_001080446.2	NP_001073915.2	C9JXX5	CK094_HUMAN	chromosome 11 open reading frame 94	12						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						AGCCCAGCCCGGGGGTGCAGA	0.667													2	4	---	---	---	---					
TCN1	6947	broad.mit.edu	37	11	59631533	59631533	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:59631533delG	ENST00000257264.3	-	2	210	c.106delC	c.(106-108)tafs	p.L36fs	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	36					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGAGGTTTTAGGCGGATGTAG	0.408													39	209	---	---	---	---					
SLC22A20	440044	broad.mit.edu	37	11	64985229	64985230	+	RNA	INS	-	-	AG			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr11:64985229_64985230insAG	ENST00000525437.1	+	0	672							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GCGGGGGGACAGGGGGGTGGCA	0.604													2	4	---	---	---	---					
KRT83	3889	broad.mit.edu	37	12	52711701	52711702	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr12:52711701_52711702delAG	ENST00000293670.3	-	3	708_709	c.646_647delCT	c.(646-648)afs	p.L216fs		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	216	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACCTTCTTTAGAGCCACAAAC	0.569													131	248	---	---	---	---					
NEK5	341676	broad.mit.edu	37	13	52684530	52684530	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr13:52684530delT	ENST00000355568.4	-	7	552	c.413delA	c.(412-414)agfs	p.K138fs		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	138	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CATTCCGTTCTTGCTAAGAAA	0.358													26	81	---	---	---	---					
RPL21P7	145370	broad.mit.edu	37	14	65733802	65733803	+	RNA	INS	-	-	C			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:65733802_65733803insC	ENST00000553754.1	-	0	368																											tttctttctttctttctttctt	0.317													2	4	---	---	---	---					
EIF3LP1	319117	broad.mit.edu	37	14	82383032	82383032	+	RNA	DEL	A	A	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr14:82383032delA	ENST00000554814.1	+	0	315																											TTTGAATCCTATTATAACAAT	0.393													10	57	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25460862	25460862	+	RNA	DEL	G	G	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr15:25460862delG	ENST00000424208.1	+	0	2739					NR_003305.1																						AGGCCCTGAAGGGCATCTGGT	0.587													18	144	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:7578469delC	ENST00000420246.2	-	5	593	c.461delG	c.(460-462)gcfs	p.G154fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.G154fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.G154fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G154fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	154	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and 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.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(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)		GACGCGGGTGCCGGGCGGGGG	0.607		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)			25	64	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													5	7	---	---	---	---					
ZNF708	7562	broad.mit.edu	37	19	21476639	21476640	+	Frame_Shift_Ins	INS	-	-	G			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr19:21476639_21476640insG	ENST00000356929.3	-	4	1325_1326	c.1128_1129insC	c.(1126-1131)tccacafs	p.T377fs		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	377					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GTAAGGTGTGAGGACCGGTTAA	0.356													32	63	---	---	---	---					
JAG1	182	broad.mit.edu	37	20	10620412	10620412	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr20:10620412delC	ENST00000254958.5	-	26	3906	c.3391delG	c.(3391-3393)ccfs	p.A1131fs	JAG1_ENST00000423891.2_Frame_Shift_Del_p.A972fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1131					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACCGTGTTGGCCCCATGTTTC	0.488									Alagille Syndrome				19	88	---	---	---	---					
ITGB2	3689	broad.mit.edu	37	21	46330678	46330678	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chr21:46330678delG	ENST00000397850.2	-	3	472	c.20delC	c.(19-21)cafs	p.P7fs	ITGB2_ENST00000397852.1_Frame_Shift_Del_p.P7fs|ITGB2_ENST00000355153.4_Frame_Shift_Del_p.P7fs|ITGB2_ENST00000397857.1_Frame_Shift_Del_p.P7fs|ITGB2_ENST00000397846.3_Frame_Shift_Del_p.P7fs|ITGB2_ENST00000397854.3_Frame_Shift_Del_p.P7fs|ITGB2_ENST00000302347.5_Frame_Shift_Del_p.P7fs			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	7					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGCGAGCAGTGGGGGGCGCAG	0.662													11	23	---	---	---	---					
CSF2RA	1438	broad.mit.edu	37	X	1428406	1428407	+	Frame_Shift_Ins	INS	-	-	T	rs140630525	byFrequency	TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:1428406_1428407insT	ENST00000355432.3	+	11	1207_1208	c.1058_1059insT	c.(1057-1059)tgcfs	p.C353fs	CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000361536.3_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATGGACATCTCCGCCTCCGCGA	0.485													56	276	---	---	---	---					
MAGEB10	139422	broad.mit.edu	37	X	27839478	27839479	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:27839478_27839479insT	ENST00000356790.2	+	3	300_301	c.55_56insT	c.(55-57)aggfs	p.R19fs		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	19										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CCGTCAGGCCCGAGGAGGGCTG	0.520													23	39	---	---	---	---					
GUCY2F	2986	broad.mit.edu	37	X	108628458	108628459	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-8585-01A-11D-2393-08	TCGA-86-8585-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e562aaa2-c8fe-4f32-ad9a-f847349e43ef	b6b5a91b-c65b-402e-94a8-d703933b9f08	g.chrX:108628458_108628459insA	ENST00000218006.2	-	16	3300_3301	c.3009_3010insT	c.(3007-3012)ttgagafs	p.LR1003fs		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1003	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.G1004R(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACAGTGTCTCCAAACAAGCAGT	0.500													34	63	---	---	---	---					
