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
CPE	1363	broad.mit.edu	37	4	166385634	166385634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:166385634G>A	ENST00000402744.4	+	2	680	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	134					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTATGCAACGAATACCAGAA	0.473000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	16					0	0	0.002450	0	0
SYPL2	284612	broad.mit.edu	37	1	110018278	110018278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:110018278G>A	ENST00000369872.3	+	3	421	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	SYPL2_ENST00000401021.3_Missense_Mutation_p.E69K|SYPL2_ENST00000475497.1_3'UTR	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	69	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGCAACAACGAAGCCAAGGA	0.522000													134	263					0	0	0.003610	0	0
ZNF230	7773	broad.mit.edu	37	19	44514558	44514558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:44514558C>T	ENST00000429154.2	+	5	595	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	123	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AGGTGATGTCCCCTCCCAGGT	0.438000													30	30					0	0	0.002445	0	0
PDGFC	56034	broad.mit.edu	37	4	157689052	157689052	+	Missense_Mutation	SNP	C	C	T	rs138079287		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:157689052C>T	ENST00000502773.1	-	5	1284	c.794G>A	c.(793-795)aGa>aAa	p.R265K	PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.R102K|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.R110K	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	265					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GGTATCGGTTCTCTTTAGTTC	0.453000													41	65					0	0	0.002222	0	0
MAP3K5	4217	broad.mit.edu	37	6	136901503	136901503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136901503C>T	ENST00000359015.4	-	25	3813	c.3453G>A	c.(3451-3453)tgG>tgA	p.W1151*	MAP3K5_ENST00000355845.4_Nonsense_Mutation_p.W398*|MAP3K5_ENST00000463140.1_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1151					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGGCAAACATCCAGTGCGGCT	0.398000													17	52					0	0	0.000958	0	0
MMP26	56547	broad.mit.edu	37	11	5011062	5011062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5011062G>A	ENST00000380390.1	+	3	500	c.284G>A	c.(283-285)gGa>gAa	p.G95E	MMP26_ENST00000300762.1_Missense_Mutation_p.G95E			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	95					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATCTCGCCAGGAAGATGCAAG	0.522000													11	17					0	0	0.002450	0	0
PIPSL	266971	broad.mit.edu	37	10	95718736	95718736	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95718736C>T	ENST00000480546.1	-	0	2561					NR_002319.2																						CATCCTCCTCCTTGGCTGGCT	0.527000													16	23					0	0	0.006122	0	0
STX6	10228	broad.mit.edu	37	1	180962549	180962549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:180962549G>A	ENST00000258301.5	-	4	550	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	STX6_ENST00000542060.1_Nonsense_Mutation_p.Q4*	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	105					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						GTTGACATCTGATCTTTCATG	0.308000													49	52					0	0	0.003610	0	0
FLNC	2318	broad.mit.edu	37	7	128480724	128480724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:128480724C>T	ENST00000325888.8	+	10	1933	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C	FLNC_ENST00000346177.6_Missense_Mutation_p.R558C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	558					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGCCATCCCTCGCAGGTGAGT	0.642000													72	35					0	0	0.003610	0	0
CDH6	1004	broad.mit.edu	37	5	31305390	31305390	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:31305390T>C	ENST00000265071.2	+	7	1374	c.1109T>C	c.(1108-1110)gTt>gCt	p.V370A	CDH6_ENST00000514738.1_Missense_Mutation_p.V315A	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	370	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAGCCACGGTTAGAATTGTG	0.428000													29	59					0	0	0.002445	0	0
GPR98	84059	broad.mit.edu	37	5	89986685	89986685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:89986685C>T	ENST00000405460.2	+	31	6874	c.6778C>T	c.(6778-6780)Cga>Tga	p.R2260*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2260					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)		GCCAATAATTCGAAATTCTGG	0.438000													9	4					0	0	0.004482	0	0
SCN9A	6335	broad.mit.edu	37	2	167085452	167085452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167085452G>A	ENST00000303354.6	-	22	4298	c.3958C>T	c.(3958-3960)Cct>Tct	p.P1320S	SCN9A_ENST00000375387.4_Missense_Mutation_p.P1320S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.P1308S|SCN9A_ENST00000409435.1_Missense_Mutation_p.P1319S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1319						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATGATGGAAGGAATTGCTCCT	0.353000													50	51					0	0	0.003610	0	0
DBF4B	80174	broad.mit.edu	37	17	42828064	42828064	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:42828064C>T	ENST00000315005.3	+	14	1429	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	431					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CACAACCCTCCTGCCGGCCTT	0.622000													27	5					0	0	0.001061	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822208	129822208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:129822208C>T	ENST00000422113.2	-	4	1596	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	424						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)		CCAATCAAGTCCTTTGGGCTC	0.607000													34	53					0	0	0.004878	0	0
ADCY2	108	broad.mit.edu	37	5	7817041	7817041	+	Silent	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:7817041G>T	ENST00000338316.4	+	23	3035	c.2946G>T	c.(2944-2946)ggG>ggT	p.G982G	ADCY2_ENST00000537121.1_Silent_p.G802G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	982					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCCTGGTAGGGAAGCTGGATG	0.512000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	35					3.28513e-13	6.15896e-13	0.003954	1	0
TGM2	7052	broad.mit.edu	37	20	36766714	36766714	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:36766714C>T	ENST00000361475.2	-	10	1589	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	TGM2_ENST00000536701.1_Silent_p.G391G|TGM2_ENST00000536724.1_Silent_p.G412G	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	472					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GCATGGCCATCCCTGTCTCCT	0.577000													65	33					0	0	0.003610	0	0
GYS2	2998	broad.mit.edu	37	12	21712032	21712032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21712032G>A	ENST00000261195.2	-	10	1555	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	434					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TACCTGAGTTGAAAAGATGGC	0.308000													15	29					0	0	0.004007	0	0
NTHL1	4913	broad.mit.edu	37	16	2096242	2096242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2096242G>A	ENST00000219066.1	-	2	283	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	89					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CAGTCCTGGGGCTCCCAGACT	0.597000								Base excision repair (BER), DNA glycosylases					23	50					0	0	0.004656	0	0
FTMT	94033	broad.mit.edu	37	5	121188116	121188116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:121188116G>A	ENST00000321339.1	+	1	467	c.458G>A	c.(457-459)tGg>tAg	p.W153*		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	153	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CAGGACGACTGGGAAAGCGGG	0.582000													20	8					0	0	0.001523	0	0
FZD4	8322	broad.mit.edu	37	11	86665987	86665987	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:86665987G>A	ENST00000531380.1	-	1	446	c.141C>T	c.(139-141)ccC>ccT	p.P47P		NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	47	FZ.				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)				AGATGCGGATGGGGTCGCAGC	0.672000													12	22					0	0	0.001855	0	0
CPA5	93979	broad.mit.edu	37	7	130007273	130007273	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:130007273A>G	ENST00000485477.1	+	10	2028	c.899A>G	c.(898-900)gAg>gGg	p.E300G	CPA5_ENST00000474905.1_Missense_Mutation_p.E300G|CPA5_ENST00000393213.3_Missense_Mutation_p.E300G|CPA5_ENST00000461828.1_Missense_Mutation_p.E300G|CPA5_ENST00000355388.3_Missense_Mutation_p.E300G|CPA5_ENST00000431780.2_Missense_Mutation_p.E300G|CPA5_ENST00000466363.2_Missense_Mutation_p.E300G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	300					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTCAGTCGGAGCCGGAGGTG	0.507000													12	56					0	0	0.000978	0	0
CD2	914	broad.mit.edu	37	1	117297170	117297170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:117297170C>T	ENST00000369478.3	+	1	164	c.56C>T	c.(55-57)tCc>tTc	p.S19F	CD2_ENST00000369477.1_Missense_Mutation_p.S19F	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	19					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AATGTTTCTTCCAAAGGTAAG	0.403000													31	35					0	0	0.003271	0	0
DVL1	1855	broad.mit.edu	37	1	1275457	1275457	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:1275457G>A	ENST00000378888.5	-	8	1154	c.870C>T	c.(868-870)gcC>gcT	p.A290A	DVL1_ENST00000378891.5_Silent_p.A290A			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	290	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCGTCAGCGGCCACAGCCC	0.637000													14	24					0	0	0.003163	0	0
TBC1D24	57465	broad.mit.edu	37	16	2548287	2548287	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2548287C>T	ENST00000567020.1	+	3	1154	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	TBC1D24_ENST00000434757.2_Silent_p.I344I|TBC1D24_ENST00000293970.5_Silent_p.I344I|RP11-20I23.1_ENST00000564543.1_Intron	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	344					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GCTCGGAGATCGTCAGCGTGA	0.637000													4	5					0	0	0.000602	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768859	127768859	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:127768859T>A	ENST00000483725.3	-	5	941	c.605A>T	c.(604-606)gAa>gTa	p.E202V	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	202							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ATTTGGCATTTCCTGGAGAAA	0.338000													22	35					0	0	0.003954	0	0
PIGQ	9091	broad.mit.edu	37	16	632972	632972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:632972C>T	ENST00000026218.5	+	10	1709	c.1621C>T	c.(1621-1623)Ccg>Tcg	p.P541S	PIGQ_ENST00000409527.2_Silent_p.C561C|PIGQ_ENST00000321878.5_Silent_p.C561C	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	541					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCGCCCTGTGCCGCAAGCTGT	0.652000													24	28					0	0	0.002780	0	0
DNAI2	64446	broad.mit.edu	37	17	72278044	72278044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:72278044G>A	ENST00000579490.1	+	1	394	c.259G>A	c.(259-261)Gac>Aac	p.D87N	DNAI2_ENST00000446837.2_Missense_Mutation_p.D30N|DNAI2_ENST00000582036.1_Missense_Mutation_p.D30N|DNAI2_ENST00000311014.6_Missense_Mutation_p.D30N|DNAI2_ENST00000307504.5_5'UTR			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	30					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGAACATCGACATCATGCC	0.602000									Kartagener syndrome				66	11					0	0	0.003610	0	0
CCNL2	81669	broad.mit.edu	37	1	1333983	1333983	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:1333983G>A	ENST00000400809.3	-	2	362	c.357C>T	c.(355-357)tcC>tcT	p.S119S	CCNL2_ENST00000408918.4_Silent_p.S119S	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	119	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTACCTCCATGGAGTGCTTCA	0.478000													52	78					0	0	0.003610	0	0
NACC1	112939	broad.mit.edu	37	19	13246834	13246834	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:13246834C>T	ENST00000292431.4	+	2	939	c.813C>T	c.(811-813)acC>acT	p.T271T		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	271					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCGCCTACACCAGCGACAGCC	0.657000													12	24					0	0	0.001855	0	0
DNAH2	146754	broad.mit.edu	37	17	7689896	7689896	+	Silent	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7689896T>C	ENST00000572933.1	+	41	7817	c.6357T>C	c.(6355-6357)ccT>ccC	p.P2119P	DNAH2_ENST00000389173.2_Silent_p.P2119P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2119	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGAGTTCCCTTTGAACCCCA	0.498000													23	5					0	0	0.003954	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576786	33576786	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:33576786C>T	ENST00000504830.1	-	19	3680	c.3345G>A	c.(3343-3345)tcG>tcA	p.S1115S	ADAMTS12_ENST00000352040.3_Silent_p.S1030S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1115	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						GGCCTCCCTCCGAGGTAGGAC	0.493000										HNSCC(64;0.19)			27	50					0	0	0.001061	0	0
TTLL9	164395	broad.mit.edu	37	20	30497607	30497607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30497607G>A	ENST00000375938.4	+	6	639	c.386G>A	c.(385-387)gGa>gAa	p.G129E	TTLL9_ENST00000375921.2_Missense_Mutation_p.G79E|TTLL9_ENST00000375922.4_Missense_Mutation_p.G79E|TTLL9_ENST00000310998.4_Missense_Mutation_p.G79E|TTLL9_ENST00000535842.1_Missense_Mutation_p.G129E|TTLL9_ENST00000375934.4_Missense_Mutation_p.G111E			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	129	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGTGAGGCAGGAAAGCTGGAG	0.552000													10	30					0	0	0.000443	0	0
NSUN2	54888	broad.mit.edu	37	5	6620225	6620225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:6620225G>A	ENST00000264670.6	-	7	1120	c.809C>T	c.(808-810)cCt>cTt	p.P270L	NSUN2_ENST00000539938.1_Missense_Mutation_p.P34L|NSUN2_ENST00000506139.1_Missense_Mutation_p.P235L	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	270						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ATACCTGCAAGGGACATCACA	0.408000													32	38					0	0	0.001786	0	0
SPERT	220082	broad.mit.edu	37	13	46287745	46287745	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:46287745C>T	ENST00000378966.3	+	2	893	c.477C>T	c.(475-477)atC>atT	p.I159I	SPERT_ENST00000310521.1_Silent_p.I195I			Q8NA61	SPERT_HUMAN	spermatid associated	195						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGAACAAGATCCTACAGGTCT	0.632000													20	30					0	0	0.001216	0	0
CR1	1378	broad.mit.edu	37	1	207793385	207793385	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207793385C>T	ENST00000367049.4	+	43	7227	c.7227C>T	c.(7225-7227)gaC>gaT	p.D2409D	CR1_ENST00000367052.1_Silent_p.D1959D|CR1_ENST00000367051.1_Silent_p.D1959D|CR1_ENST00000367053.1_Silent_p.D1959D|CR1_ENST00000400960.2_Silent_p.D1959D	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1959					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACAGATGGGACCCTCCTCTGG	0.478000											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	16					0	0	0.004007	0	0
ETNPPL	64850	broad.mit.edu	37	4	109672152	109672152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:109672152G>A	ENST00000296486.3	-	7	795	c.641C>T	c.(640-642)tCc>tTc	p.S214F	ETNPPL_ENST00000512646.1_Missense_Mutation_p.S156F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.S208F|ETNPPL_ENST00000510706.1_Missense_Mutation_p.S174F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		ACTCTGCATGGATTCAGCAAT	0.458000													60	78					0	0	0.003610	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508675	106508675	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:106508675C>T	ENST00000359195.3	+	2	979	c.669C>T	c.(667-669)gtC>gtT	p.V223V	PIK3CG_ENST00000440650.2_Silent_p.V223V|PIK3CG_ENST00000496166.1_Silent_p.V223V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	223					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTTCATCGTCATTCACCGCA	0.587000													70	48					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110489617	110489617	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110489617C>T	ENST00000378402.5	+	53	9185	c.9081C>T	c.(9079-9081)gcC>gcT	p.A3027A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3027					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGCGACCAGCCACATATAAGT	0.378000										HNSCC(38;0.096)			18	51					0	0	0.006122	0	0
THEG	51298	broad.mit.edu	37	19	373504	373504	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:373504G>A	ENST00000342640.4	-	4	573	c.531C>T	c.(529-531)ttC>ttT	p.F177F	THEG_ENST00000346878.2_Silent_p.F153F	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	177					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		TGTCCTCAAGGAACCGCTCGG	0.682000													15	23					0	0	0.004990	0	0
WISP1	8840	broad.mit.edu	37	8	134239812	134239812	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:134239812C>T	ENST00000250160.6	+	5	1069	c.963C>T	c.(961-963)tcC>tcT	p.S321S	WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000377863.2_Silent_p.S149S|WISP1_ENST00000519433.1_Silent_p.S76S|WISP1_ENST00000220856.6_Silent_p.S234S	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	321	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TCGACGTGTCCTTCCAGTGTC	0.517000													59	36					0	0	0.003610	0	0
ELTD1	64123	broad.mit.edu	37	1	79357337	79357337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:79357337C>T	ENST00000370742.3	-	14	1945	c.1882G>A	c.(1882-1884)Ggc>Agc	p.G628S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	628					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CAGGTGGTGCCGAGAAGGAAC	0.473000													13	28					0	0	0.001855	0	0
VWA7	80737	broad.mit.edu	37	6	31744340	31744340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:31744340G>A	ENST00000375686.3	-	2	454	c.217C>T	c.(217-219)Cgt>Tgt	p.R73C	VWA7_ENST00000375688.4_Missense_Mutation_p.R73C|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R73C	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	73						extracellular region											TCCTCAAGACGAAGAGGGGGG	0.632000													53	85					0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10419944	10419944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10419944C>T	ENST00000226207.5	-	3	110	c.16G>A	c.(16-18)Gag>Aag	p.E6K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	6	Myosin head-like.					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						ATGGCCATCTCAGAGTCGGAA	0.478000													41	8					0	0	0.001951	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884877	15884877	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:15884877C>T	ENST00000285670.2	-	5	675	c.501G>A	c.(499-501)gaG>gaA	p.E167E	SAMSN1_ENST00000400566.1_Silent_p.E99E|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	99	SH3.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGTGGGCATTCTCTCCATCTT	0.443000													43	69					0	0	0.003610	0	0
OR7G1	125962	broad.mit.edu	37	19	9226317	9226317	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9226317C>T	ENST00000293614.1	-	1	122	c.123G>A	c.(121-123)ggG>ggA	p.G41G	OR7G1_ENST00000541538.1_Silent_p.G41G			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TGAGCAGGTTCCCCAGGATGG	0.473000													53	66					0	0	0.003610	0	0
ZNF264	9422	broad.mit.edu	37	19	57723784	57723784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:57723784C>T	ENST00000263095.6	+	4	1733	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F	ZNF264_ENST00000536056.1_Missense_Mutation_p.S440F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		ACCCACTGCTCTACTTTTATC	0.517000													19	29					0	0	0.006122	0	0
ARMC2	84071	broad.mit.edu	37	6	109233636	109233636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:109233636G>T	ENST00000392644.4	+	10	1393	c.1225G>T	c.(1225-1227)Gga>Tga	p.G409*	ARMC2_ENST00000368972.3_Nonsense_Mutation_p.G244*	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	409							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TGGAAATCTGGGATTTCTTAA	0.328000													29	43					1.5548e-18	2.92187e-18	0.005443	1	0
PTHLH	5744	broad.mit.edu	37	12	28116681	28116681	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:28116681G>A	ENST00000535992.1	-	3	470	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	PTHLH_ENST00000201015.4_Nonsense_Mutation_p.Q42*|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Nonsense_Mutation_p.Q42*|PTHLH_ENST00000539239.1_Nonsense_Mutation_p.Q42*|PTHLH_ENST00000545234.1_Nonsense_Mutation_p.Q42*|PTHLH_ENST00000395872.1_Nonsense_Mutation_p.Q42*|PTHLH_ENST00000354417.3_Nonsense_Mutation_p.Q42*|PTHLH_ENST00000395868.3_Nonsense_Mutation_p.Q42*			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	42					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					TGGAGGAGCTGATGTTCAGAC	0.408000													45	66					0	0	0.003610	0	0
NT5C1B	93034	broad.mit.edu	37	2	18767596	18767596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:18767596C>T	ENST00000304081.4	-	3	282	c.182G>A	c.(181-183)tGg>tAg	p.W61*	NT5C1B_ENST00000600945.1_Nonsense_Mutation_p.W121*|NT5C1B-RDH14_ENST00000532967.1_Nonsense_Mutation_p.W121*|NT5C1B_ENST00000359846.2_Nonsense_Mutation_p.W121*|NT5C1B_ENST00000460052.1_5'UTR	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TATTCTAGACCATTGACTGCG	0.498000													18	29					0	0	0.004990	0	0
BSN	8927	broad.mit.edu	37	3	49699923	49699923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49699923C>T	ENST00000296452.4	+	6	10759	c.10645C>T	c.(10645-10647)Cgg>Tgg	p.R3549W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3549					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGACGGACCTCGGGCCCACGC	0.617000													19	30					0	0	0.001216	0	0
ZFP42	132625	broad.mit.edu	37	4	188924786	188924786	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:188924786C>T	ENST00000326866.4	+	4	1233	c.825C>T	c.(823-825)ttC>ttT	p.F275F	ZFP42_ENST00000509524.1_Silent_p.F275F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	275					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AGAAACGTTTCGTGTGTCCCT	0.488000													27	32					0	0	0.001271	0	0
LRP1B	53353	broad.mit.edu	37	2	141135811	141135811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141135811C>T	ENST00000389484.3	-	68	11547	c.10576G>A	c.(10576-10578)Gac>Aac	p.D3526N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3526	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAAACACAGTCCCCATTGGCA	0.398000										TSP Lung(27;0.18)			17	38					0	0	0.001882	0	0
PTPRC	5788	broad.mit.edu	37	1	198676048	198676048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:198676048C>T	ENST00000367376.2	+	9	1036	c.865C>T	c.(865-867)Cct>Tct	p.P289S	PTPRC_ENST00000442510.2_Missense_Mutation_p.P291S|PTPRC_ENST00000594404.1_Missense_Mutation_p.P128S|PTPRC_ENST00000352140.3_Missense_Mutation_p.P241S|PTPRC_ENST00000348564.6_Missense_Mutation_p.P130S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	289					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATGTACTGCTCCTGATAAGAC	0.323000													64	78					0	0	0.003610	0	0
CDH18	1016	broad.mit.edu	37	5	19838955	19838955	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:19838955G>A	ENST00000507958.1	-	5	1131	c.141C>T	c.(139-141)gtC>gtT	p.V47V	CDH18_ENST00000502796.1_Silent_p.V47V|CDH18_ENST00000274170.4_Silent_p.V47V|CDH18_ENST00000506372.1_Silent_p.V47V|CDH18_ENST00000511273.1_Silent_p.V47V|CDH18_ENST00000382275.1_Silent_p.V47V			Q13634	CAD18_HUMAN	cadherin 18, type 2	47					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GACGATGATGGACTTCGGTTT	0.428000													29	39					0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179641978	179641978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179641978G>A	ENST00000589042.1	-	27	4936	c.4712C>T	c.(4711-4713)tCc>tTc	p.S1571F	TTN_ENST00000360870.5_Missense_Mutation_p.S1571F|TTN_ENST00000460472.2_Missense_Mutation_p.S1525F|TTN_ENST00000591111.1_Missense_Mutation_p.S1571F|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S1525F|TTN_ENST00000342992.6_Missense_Mutation_p.S1571F|TTN_ENST00000342175.6_Missense_Mutation_p.S1525F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1306	Ig-like 7.						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)			TTCAAGTCGGGAACCTTCCTT	0.388000													30	37					0	0	0.001271	0	0
IL17RE	132014	broad.mit.edu	37	3	9952858	9952858	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9952858G>A	ENST00000454190.2	+	10	1111	c.1026_splice	c.e10+1	p.K342_splice	IL17RE_ENST00000421412.1_Splice_Site_p.K375_splice|IL17RE_ENST00000383814.3_Splice_Site_p.K342_splice|IL17RE_ENST00000295980.3_Splice_Site_p.K342_splice	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	342						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TCTGCTTCAAGGTACAACCAT	0.502000													53	58					0	0	0.003610	0	0
MSH2	4436	broad.mit.edu	37	2	47693882	47693882	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:47693882C>T	ENST00000406134.1	+	10	1658	c.1596C>T	c.(1594-1596)gtC>gtT	p.V532V	MSH2_ENST00000233146.2_Silent_p.V532V|MSH2_ENST00000543555.1_Silent_p.V466V			P43246	MSH2_HUMAN	mutS homolog 2	532					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.?(2)		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)			AAGAAAAAGTCCTTCGTAACA	0.343000			"""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				38	34					0	0	0.005524	0	0
FGD5	152273	broad.mit.edu	37	3	14863037	14863037	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14863037A>G	ENST00000285046.5	+	1	2569	c.2459A>G	c.(2458-2460)tAc>tGc	p.Y820C	FGD5_ENST00000543601.1_Missense_Mutation_p.Y579C	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	820					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AATGATGGCTACGTGGACATG	0.527000													23	33					0	0	0.001882	0	0
CCDC3	83643	broad.mit.edu	37	10	12940599	12940599	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:12940599C>T	ENST00000378839.1	-	7	1207	c.255G>A	c.(253-255)ctG>ctA	p.L85L	CCDC3_ENST00000378825.3_Silent_p.L210L			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	210						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			TGCGCTTCTCCAGGGTGGCCA	0.617000													26	35					0	0	0.001786	0	0
EGR1	1958	broad.mit.edu	37	5	137802462	137802462	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:137802462C>T	ENST00000239938.4	+	2	596	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	108					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTCCTGACATCTCTCTGAACA	0.577000													49	27					0	0	0.003610	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17135978	17135978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17135978G>A	ENST00000265970.7	-	19	3250	c.3251C>T	c.(3250-3252)tCc>tTc	p.S1084F	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.S704F	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1084					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTGAAAAAAGGACTGTACTCG	0.318000													35	50					0	0	0.005524	0	0
RMDN2	151393	broad.mit.edu	37	2	38201340	38201340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:38201340C>T	ENST00000407257.1	+	3	1291	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	RMDN2_ENST00000417700.2_Missense_Mutation_p.R59C|RMDN2_ENST00000406384.1_Missense_Mutation_p.R204C|RMDN2_ENST00000354545.2_Missense_Mutation_p.R204C|RMDN2_ENST00000234195.3_Missense_Mutation_p.R382C|RMDN2-AS1_ENST00000414365.2_RNA					regulator of microtubule dynamics 2																		TGAACTACTTCGTGACCACAA	0.338000													26	29					0	0	0.001512	0	0
SH3GL1	6455	broad.mit.edu	37	19	4361744	4361744	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4361744C>T	ENST00000269886.3	-	10	1138	c.960G>A	c.(958-960)gaG>gaA	p.E320E	SH3GL1_ENST00000417295.2_Silent_p.E272E|SH3GL1_ENST00000598564.1_Silent_p.E256E	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	320	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCCCGTCGTTCTCGGGCTCGA	0.687000			T	MLL	AL								14	36					0	0	0.004990	0	0
C1orf127	148345	broad.mit.edu	37	1	11008286	11008286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:11008286C>T	ENST00000377004.4	-	12	1905	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R	C1orf127_ENST00000377008.4_Missense_Mutation_p.G469R	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	487										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCCTGGCCCCCTCCCTGGGG	0.642000													32	37					0	0	0.002836	0	0
DAPK1	1612	broad.mit.edu	37	9	90312085	90312085	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:90312085C>T	ENST00000469640.2	+	22	2952	c.2577C>T	c.(2575-2577)ttC>ttT	p.F859F	DAPK1_ENST00000358077.5_Silent_p.F859F|DAPK1_ENST00000491893.1_Intron|DAPK1_ENST00000472284.1_Silent_p.F859F|DAPK1_ENST00000408954.3_Silent_p.F859F			P53355	DAPK1_HUMAN	death-associated protein kinase 1	859					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGCTCAGTTTCCTGAAGTCCC	0.493000									Chronic Lymphocytic Leukemia, Familial Clustering of				29	1					0	0	0.001061	0	0
DNAH7	56171	broad.mit.edu	37	2	196746636	196746636	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196746636G>A	ENST00000312428.6	-	36	5944	c.5844C>T	c.(5842-5844)atC>atT	p.I1948I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1948	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTGGCACAATGATTTCATTAA	0.373000													28	41					0	0	0.005443	0	0
ATP1A2	477	broad.mit.edu	37	1	160098870	160098870	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160098870C>T	ENST00000361216.3	+	10	1406	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	ATP1A2_ENST00000392233.3_Silent_p.S439S|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	439					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAACATCTCCGTGTCTAAGG	0.567000													5	11					0	0	0.000602	0	0
RETNLB	84666	broad.mit.edu	37	3	108476021	108476021	+	Silent	SNP	G	G	A	rs145650386	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108476021G>A	ENST00000295755.6	-	1	210	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	4					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GGAGGCAAGAGGACGGCCCCA	0.522000													9	21					0	0	0.000443	0	0
CDH23	64072	broad.mit.edu	37	10	73544059	73544059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:73544059C>T	ENST00000224721.6	+	41	5404	c.5399C>T	c.(5398-5400)tCt>tTt	p.S1800F		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1795	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTTGTGATCTCTCCTGTGGAG	0.607000													12	22					0	0	0.003163	0	0
TNN	63923	broad.mit.edu	37	1	175046581	175046581	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:175046581C>T	ENST00000239462.4	+	2	140	c.27C>T	c.(25-27)ttC>ttT	p.F9F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	9					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)		TGTTCCGCTTCCCTATGGGGC	0.572000													32	83					0	0	0.003271	0	0
MIER2	54531	broad.mit.edu	37	19	311857	311857	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:311857G>A	ENST00000264819.4	-	10	982	c.972C>T	c.(970-972)atC>atT	p.I324I		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	324	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TGTTGGCCTGGATCAGGTGAA	0.622000													11	21					0	0	0.000978	0	0
ZNF551	90233	broad.mit.edu	37	19	58198865	58198865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58198865C>T	ENST00000282296.5	+	3	1407	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	ZNF551_ENST00000356715.4_Nonsense_Mutation_p.R392*|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAATCTCATTCGACATAGAAG	0.423000													54	57					0	0	0.003610	0	0
SCN3A	6328	broad.mit.edu	37	2	165950958	165950958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:165950958C>T	ENST00000360093.3	-	26	4953	c.4462G>A	c.(4462-4464)Gaa>Aaa	p.E1488K	SCN3A_ENST00000283254.7_Missense_Mutation_p.E1488K|SCN3A_ENST00000409101.3_Missense_Mutation_p.E1439K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1488						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)	TTTTTCTGTTCCTCTGTCATA	0.343000													82	133					0	0	0.003610	0	0
ZNF215	7762	broad.mit.edu	37	11	6953620	6953620	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6953620G>A	ENST00000278319.5	+	3	705	c.117G>A	c.(115-117)gtG>gtA	p.V39V	ZNF215_ENST00000529903.1_Silent_p.V39V|ZNF215_ENST00000414517.2_Silent_p.V39V|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	39					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ACCCCGTCGTGGAGACACATG	0.493000													33	63					0	0	0.001706	0	0
TMEM132A	54972	broad.mit.edu	37	11	60701033	60701033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60701033C>T	ENST00000005286.4	+	8	1532	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	TMEM132A_ENST00000453848.2_Missense_Mutation_p.A459V	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	459						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCTGTGATGCCGTGTTCGTG	0.701000													10	19					0	0	0.001368	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188221	70188221	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:70188221C>T	ENST00000320256.4	-	1	1176	c.600G>A	c.(598-600)ggG>ggA	p.G200G		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	200					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGCCAATCTTCCCCTTGAGAT	0.602000													29	46					0	0	0.003271	0	0
DEPDC1	55635	broad.mit.edu	37	1	68944952	68944952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:68944952G>A	ENST00000456315.2	-	10	2101	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	DEPDC1_ENST00000370966.5_Missense_Mutation_p.L379F|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	663					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.L663F(1)|p.L379F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AGCTCATCAAGATCCACTTCT	0.348000													25	23					0	0	0.003330	0	0
MPP7	143098	broad.mit.edu	37	10	28420556	28420556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:28420556G>A	ENST00000337532.5	-	7	656	c.380C>T	c.(379-381)cCt>cTt	p.P127L	MPP7_ENST00000375719.3_Missense_Mutation_p.P127L|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000540098.1_Missense_Mutation_p.P127L|MPP7_ENST00000375732.1_Missense_Mutation_p.P127L|MPP7_ENST00000445954.2_Missense_Mutation_p.P2L	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	127					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AATATCTTCAGGCATAGGAGG	0.388000													31	32					0	0	0.001786	0	0
DNAH8	1769	broad.mit.edu	37	6	38757653	38757653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38757653G>A	ENST00000359357.3	+	17	2261	c.2007G>A	c.(2005-2007)atG>atA	p.M669I	DNAH8_ENST00000449981.2_Missense_Mutation_p.M886I|DNAH8_ENST00000441566.1_Missense_Mutation_p.M669I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCCCAAAAATGAAAAAGGTTG	0.338000													28	37					0	0	0.001271	0	0
PTGER4	5734	broad.mit.edu	37	5	40681542	40681542	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:40681542C>T	ENST00000302472.3	+	2	1471	c.447C>T	c.(445-447)ctC>ctT	p.L149L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	149					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.L149L(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCAACGTGCTCTTTTGCGCGC	0.602000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	44					0	0	0.004289	0	0
LINC00842	643650	broad.mit.edu	37	10	47133601	47133601	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:47133601G>A	ENST00000422732.2	-	0	435					NR_033957.1																						ccaccaccacgactgccacca	0.483000													8	42					0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13914692	13914692	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13914692G>A	ENST00000265104.4	-	10	1361	c.1257C>T	c.(1255-1257)tcC>tcT	p.S419S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	419	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)					GGTTCCAGATGGAAGCGGTTC	0.343000									Kartagener syndrome				33	53					0	0	0.002445	0	0
EVI5	7813	broad.mit.edu	37	1	93202034	93202034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:93202034G>A	ENST00000370331.1	-	2	211	c.202C>T	c.(202-204)Cca>Tca	p.P68S	EVI5_ENST00000540033.1_Missense_Mutation_p.P68S|EVI5_ENST00000543509.1_Missense_Mutation_p.P68S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	68	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GAAAGGGCTGGTGTTGATAGT	0.468000													42	53					0	0	0.002222	0	0
TRAV13-1	28671	broad.mit.edu	37	14	22337365	22337365	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22337365C>T	ENST00000390436.2	+	0	179																											CAAACTACTTCCCTTGGTATA	0.438000													72	89					0	0	0.003610	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185364881	185364881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:185364881G>A	ENST00000382199.2	-	15	1734	c.1639C>T	c.(1639-1641)Cgt>Tgt	p.R547C	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.R553C|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.R490C|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.R504C	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	547	KH 4.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GTTTGGTCACGAGGCACGATG	0.532000													143	201					0	0	0.003610	0	0
RHAG	6005	broad.mit.edu	37	6	49582516	49582516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:49582516C>T	ENST00000371175.4	-	5	717	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	RHAG_ENST00000229810.7_Missense_Mutation_p.E231K	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	231					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCTCCAGGTTCAGCAATGGCC	0.502000													25	38					0	0	0.001786	0	0
SNAP91	9892	broad.mit.edu	37	6	84417550	84417550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:84417550C>T	ENST00000428679.2	-	2	690	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	SNAP91_ENST00000437520.1_Missense_Mutation_p.E33K|SNAP91_ENST00000439399.2_Missense_Mutation_p.E33K|SNAP91_ENST00000521485.1_Missense_Mutation_p.E33K|SNAP91_ENST00000520302.1_Missense_Mutation_p.E33K|SNAP91_ENST00000369694.2_Missense_Mutation_p.E33K|SNAP91_ENST00000195649.6_Missense_Mutation_p.E33K|SNAP91_ENST00000520213.1_Missense_Mutation_p.E33K|SNAP91_ENST00000521743.1_Missense_Mutation_p.E33K			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	33	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CCCATTACTTCATGAGTAGTG	0.567000													36	46					0	0	0.002522	0	0
TNR	7143	broad.mit.edu	37	1	175365860	175365860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:175365860C>T	ENST00000367674.1	-	5	1768	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	TNR_ENST00000263525.2_Missense_Mutation_p.E354K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	354	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)					ATCACATATTCCGTCACTGCC	0.622000													41	42					0	0	0.002222	0	0
FILIP1	27145	broad.mit.edu	37	6	76023970	76023970	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:76023970C>T	ENST00000393004.2	-	5	1799	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	FILIP1_ENST00000370020.1_Silent_p.V427V|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.V526V			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	526										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGAGTCCATCCACTTTTCTCT	0.303000													22	31					0	0	0.001882	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76528864	76528864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:76528864G>A	ENST00000307431.8	+	15	2520	c.2135G>A	c.(2134-2136)gGa>gAa	p.G712E	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G716E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G640E|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G664E|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	713	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACCTACTGGGGAGGTTCTTCG	0.423000													51	72					0	0	0.003610	0	0
FGD5	152273	broad.mit.edu	37	3	14861370	14861370	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14861370G>A	ENST00000285046.5	+	1	902	c.792G>A	c.(790-792)gaG>gaA	p.E264E	FGD5_ENST00000543601.1_Silent_p.E23E	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	264	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGTCCAGGAGGCAGAGACAG	0.622000													10	7					0	0	0.000443	0	0
CTAGE9	643854	broad.mit.edu	37	6	132031899	132031899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:132031899C>T	ENST00000314099.8	-	1	307	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	87						integral to membrane				endometrium(1)|lung(1)	2						CATTTTTCTTCAATTAGTCCA	0.383000													36	69					0	0	0.003610	0	0
NLRP1	22861	broad.mit.edu	37	17	5424903	5424903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:5424903G>A	ENST00000345221.3	-	13	4278	c.3724C>T	c.(3724-3726)Cat>Tat	p.H1242Y	NLRP1_ENST00000262467.5_Missense_Mutation_p.H1246Y|NLRP1_ENST00000269280.4_Missense_Mutation_p.H1242Y|NLRP1_ENST00000572272.1_Missense_Mutation_p.H1242Y|NLRP1_ENST00000354411.3_Missense_Mutation_p.H1212Y|NLRP1_ENST00000577119.1_Missense_Mutation_p.H1212Y	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1242					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTCAGGATGGACGCGGTGG	0.552000													38	10					0	0	0.004878	0	0
TNFSF18	8995	broad.mit.edu	37	1	173020090	173020090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:173020090G>A	ENST00000404377.3	-	1	13	c.13C>T	c.(13-15)Cct>Tct	p.P5S	RP1-15D23.2_ENST00000432694.1_RNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	5					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						ATGGGTGAAGGATGCAATGTC	0.373000													33	19					0	0	0.003271	0	0
GRIK3	2899	broad.mit.edu	37	1	37356632	37356632	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:37356632G>A	ENST00000373091.3	-	2	197	c.181C>T	c.(181-183)Cga>Tga	p.R61*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.R61*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	61					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCAGAAAATCGAAAGGCATGC	0.502000													78	119					0	0	0.003610	0	0
SCN7A	6332	broad.mit.edu	37	2	167279822	167279822	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167279822A>T	ENST00000409855.1	-	18	3100	c.2974T>A	c.(2974-2976)Ttt>Att	p.F992I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	992					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TAGGCCTTAAAACCATATGCC	0.318000													39	52					0	0	0.002222	0	0
ZEB1	6935	broad.mit.edu	37	10	31809275	31809275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31809275C>T	ENST00000446923.2	+	7	1355	c.964C>T	c.(964-966)Caa>Taa	p.Q322*	ZEB1_ENST00000320985.10_Nonsense_Mutation_p.Q338*|ZEB1_ENST00000542815.3_Nonsense_Mutation_p.Q271*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.Q318*|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.Q339*|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	338					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)				TAAACCCCTTCAAGAACAACT	0.423000													11	23					0	0	0.000673	0	0
TLR4	7099	broad.mit.edu	37	9	120475721	120475721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:120475721G>A	ENST00000355622.6	+	3	1416	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E399K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	439					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						ACAAATGAGTGAGTTTTCAGT	0.388000													76	10					0	0	0.003610	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11846618	11846618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:11846618G>A	ENST00000396516.2	-	21	2830	c.2633C>T	c.(2632-2634)tCc>tTc	p.S878F	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.S878F|ZC3H7A_ENST00000575984.1_Missense_Mutation_p.S74F			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	878						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GTGCTTCTCGGAGGAGATGTG	0.498000													25	32					0	0	0.004656	0	0
ZNF728	388523	broad.mit.edu	37	19	23159597	23159597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:23159597G>A	ENST00000594710.1	-	4	687	c.542C>T	c.(541-543)tCa>tTa	p.S181L		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		CATGCAAAATGATCTGACATA	0.318000													12	19					0	0	0.001368	0	0
KCNK10	54207	broad.mit.edu	37	14	88729757	88729757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:88729757G>A	ENST00000340700.5	-	2	627	c.176C>T	c.(175-177)tCc>tTc	p.S59F	KCNK10_ENST00000319231.5_Missense_Mutation_p.S64F|KCNK10_ENST00000312350.5_Missense_Mutation_p.S64F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	59					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCCCCCTTGGGAGGTGCCTTC	0.617000													51	14					0	0	0.003610	0	0
PCDH15	65217	broad.mit.edu	37	10	55566490	55566490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55566490C>T	ENST00000373965.2	-	36	5298	c.4904G>A	c.(4903-4905)aGg>aAg	p.R1635K	PCDH15_ENST00000414778.1_Missense_Mutation_p.R1632K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				GCTTTTCAGCCTGTTCCTTAG	0.448000										HNSCC(58;0.16)			53	125					0	0	0.003610	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891962	5891962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:5891962C>T	ENST00000581347.1	-	3	746	c.101G>A	c.(100-102)aGg>aAg	p.R34K	TMEM200C_ENST00000383490.2_Missense_Mutation_p.R34K|RP11-945C19.4_ENST00000577694.1_RNA			A6NKL6	T200C_HUMAN	transmembrane protein 200C	34						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GTTCTTGCGCCTCTTCTTGGC	0.602000													11	29					0	0	0.000978	0	0
LETMD1	25875	broad.mit.edu	37	12	51442931	51442931	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:51442931C>T	ENST00000418425.2	+	2	256	c.237C>T	c.(235-237)ttC>ttT	p.F79F	LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000380123.2_Silent_p.F79F|LETMD1_ENST00000550929.1_Silent_p.F23F|LETMD1_ENST00000547008.1_Silent_p.F79F|LETMD1_ENST00000262055.4_Silent_p.F79F|LETMD1_ENST00000548516.1_3'UTR	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	79	LETM1.|Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTCGTCATTTCCCCCGCTTCT	0.418000													27	34					0	0	0.001512	0	0
SP100	6672	broad.mit.edu	37	2	231404077	231404077	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:231404077C>T	ENST00000340126.4	+	25	2221	c.2190C>T	c.(2188-2190)atC>atT	p.I730I	AC010149.4_ENST00000455357.1_RNA|AC010149.4_ENST00000414539.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	478					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACTGCCACATCCCATCCGTGG	0.507000													17	28					0	0	0.001216	0	0
ZFHX3	463	broad.mit.edu	37	16	72829897	72829897	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72829897G>A	ENST00000268489.5	-	9	7356	c.6684C>T	c.(6682-6684)ccC>ccT	p.P2228P	ZFHX3_ENST00000397992.5_Silent_p.P1314P	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2228					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCGGCGAAGGGGGCCGGGAGT	0.527000													42	58					0	0	0.001951	0	0
MYLK2	85366	broad.mit.edu	37	20	30409334	30409334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30409334G>A	ENST00000375994.2	+	3	839	c.566G>A	c.(565-567)aGg>aAg	p.R189K	MYLK2_ENST00000375985.4_Missense_Mutation_p.R189K			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	189					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)			ACGGATCCCAGGCCAGCCAAG	0.592000													15	41					0	0	0.004007	0	0
SLC4A10	57282	broad.mit.edu	37	2	162751198	162751198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:162751198G>A	ENST00000375514.5	+	11	1434	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D372N|SLC4A10_ENST00000446997.1_Missense_Mutation_p.D402N|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D372N|SLC4A10_ENST00000421911.1_Missense_Mutation_p.D402N|SLC4A10_ENST00000535165.1_Missense_Mutation_p.M372I	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	402					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTATTTCATGATGTTGCCTA	0.318000													13	13					0	0	0.001368	0	0
TBX21	30009	broad.mit.edu	37	17	45822198	45822198	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45822198C>T	ENST00000177694.1	+	6	1285	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	358					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACTCTCCTCTCCTACCCAACC	0.577000													65	14					0	0	0.003610	0	0
ZNF418	147686	broad.mit.edu	37	19	58437565	58437565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58437565G>A	ENST00000396147.1	-	4	2275	c.1984C>T	c.(1984-1986)Ctc>Ttc	p.L662F	ZNF418_ENST00000595830.1_Missense_Mutation_p.L662F|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.L577F|ZNF418_ENST00000425570.3_Missense_Mutation_p.L683F	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGTCGAAGGAGAGAAGAGCTT	0.408000													30	45					0	0	0.002836	0	0
SNIP1	79753	broad.mit.edu	37	1	38006000	38006000	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:38006000A>T	ENST00000296215.6	-	3	756	c.684T>A	c.(682-684)ctT>ctA	p.L228L		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	228					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GTGCCCCAGAAAGTTCAAAGC	0.507000													22	43					0	0	0.002780	0	0
KRT20	54474	broad.mit.edu	37	17	39036418	39036418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39036418C>T	ENST00000167588.3	-	4	767	c.726G>A	c.(724-726)atG>atA	p.M242I		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	242	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				ACTTCTGCCTCATTTCATTCA	0.483000													68	22					0	0	0.003610	0	0
CYC1	1537	broad.mit.edu	37	8	145151587	145151587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145151587C>T	ENST00000318911.4	+	5	785	c.712C>T	c.(712-714)Cct>Tct	p.P238S		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	238					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	p.P238T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCTACTTTCCTGGCCAGGC	0.577000													34	31					0	0	0.003755	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103524668	103524668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:103524668C>T	ENST00000602836.1	+	21	4075	c.4075C>T	c.(4075-4077)Cga>Tga	p.1359_1359ins*	ERCC5_ENST00000355739.4_Silent_p.A933A|ERCC5_ENST00000375954.1_Silent_p.A166A	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CAGCTGTTGCCGAGGCCTACC	0.433000													18	8					0	0	0.001216	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905720	132905720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:132905720C>T	ENST00000409867.1	-	6	1010	c.761G>A	c.(760-762)aGa>aAa	p.R254K	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						ATCAGGTGTTCTTTCCACCAA	0.438000													7	16					0	0	0.000673	0	0
TRIM60	166655	broad.mit.edu	37	4	165961311	165961311	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:165961311C>T	ENST00000512596.1	+	3	303	c.87C>T	c.(85-87)atC>atT	p.I29I	TRIM60_ENST00000508504.1_Silent_p.I29I|TRIM60_ENST00000341062.5_Silent_p.I29I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	29						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CAGTGACCATCAACTGTGGGC	0.507000													24	29					0	0	0.003954	0	0
NFATC1	4772	broad.mit.edu	37	18	77208917	77208917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:77208917G>A	ENST00000253506.5	+	4	1891	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	NFATC1_ENST00000329101.4_Missense_Mutation_p.E495K|NFATC1_ENST00000427363.2_Missense_Mutation_p.E508K|NFATC1_ENST00000542384.1_Missense_Mutation_p.E508K|NFATC1_ENST00000397790.2_Missense_Mutation_p.E36K|NFATC1_ENST00000587635.1_Missense_Mutation_p.E508K|NFATC1_ENST00000592223.1_Missense_Mutation_p.E495K|NFATC1_ENST00000591814.1_Missense_Mutation_p.E508K|NFATC1_ENST00000586434.1_Missense_Mutation_p.E495K|NFATC1_ENST00000318065.5_Missense_Mutation_p.E495K|NFATC1_ENST00000545796.1_Missense_Mutation_p.E36K	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	508	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CACCAGCCACGAGGCCATCCT	0.657000													14	17					0	0	0.003163	0	0
GPR98	84059	broad.mit.edu	37	5	90052350	90052350	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:90052350G>A	ENST00000405460.2	+	56	11756	c.11660G>A	c.(11659-11661)gGa>gAa	p.G3887E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3887					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)		TTCTCTACAGGACAGCCAAGT	0.448000													46	13					0	0	0.003610	0	0
EHD2	30846	broad.mit.edu	37	19	48220223	48220223	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:48220223G>A	ENST00000263277.3	+	2	605	c.354G>A	c.(352-354)ccG>ccA	p.P118P	CTD-2571L23.8_ENST00000599924.1_lincRNA|EHD2_ENST00000538399.1_Intron	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	118					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TCGTGGACCCGGACAAGCCCT	0.622000													17	37					0	0	0.000958	0	0
SHANK1	50944	broad.mit.edu	37	19	51192574	51192574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51192574G>A	ENST00000391813.1	-	1	87	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000359082.3_Intron			Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1208					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGTGGTGGGGGGAGTGGAGAA	0.557000													7	11					0	0	0.003080	0	0
CXADRP3	440224	broad.mit.edu	37	18	14479219	14479219	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:14479219G>A	ENST00000581457.1	-	0	689					NR_024076.1																						AACTTCTGGTGAAATCCGCGA	0.567000													4	11					0	0	0.000248	0	0
NOTCH3	4854	broad.mit.edu	37	19	15290071	15290071	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15290071C>T	ENST00000263388.2	-	22	3558	c.3483G>A	c.(3481-3483)gaG>gaA	p.E1161E		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1161	EGF-like 30; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGCAGTCATCCTCATTAATCT	0.642000													9	21					0	0	0.000443	0	0
FAM47C	442444	broad.mit.edu	37	X	37028481	37028481	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:37028481C>T	ENST00000358047.3	+	1	2050	c.1998C>T	c.(1996-1998)ctC>ctT	p.L666L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	666										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						TGTCCAGTCTCCCCCCGGAGC	0.637000													9	7					0	0	0.002450	0	0
RAB39A	54734	broad.mit.edu	37	11	107832799	107832799	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:107832799C>T	ENST00000320578.2	+	2	421	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	119					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.R119W(1)									ACAGCCATTTCGGATTGTATT	0.378000													23	28					0	0	0.001882	0	0
NME8	51314	broad.mit.edu	37	7	37924006	37924006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:37924006G>A	ENST00000199447.4	+	13	1468	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	NME8_ENST00000440017.1_Missense_Mutation_p.E366K|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	366	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CAAGGAATATGAAAATGAAGA	0.308000													28	44					0	0	0.001271	0	0
POU1F1	5449	broad.mit.edu	37	3	87309064	87309064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:87309064C>T	ENST00000350375.2	-	6	980	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	POU1F1_ENST00000560656.1_3'UTR|POU1F1_ENST00000344265.3_Missense_Mutation_p.E312K	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	286					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TCAAGATGTTCCTTAGAAATA	0.358000													14	27					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179481726	179481726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179481726C>T	ENST00000589042.1	-	256	48114	c.47890G>A	c.(47890-47892)Gat>Aat	p.D15964N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D6899N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D14323N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D7024N|TTN_ENST00000342992.6_Missense_Mutation_p.D13396N|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.D7091N|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14323	Fibronectin type-III 16.						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)			GCACTTAAATCCATTGTTGGT	0.423000													46	86					0	0	0.003610	0	0
KCNB2	9312	broad.mit.edu	37	8	73480462	73480462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:73480462G>A	ENST00000523207.1	+	2	1081	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	165					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCGAGAAGGAGAAGAGTTTGA	0.458000													45	156					0	0	0.003610	0	0
SYT9	143425	broad.mit.edu	37	11	7324533	7324533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7324533C>T	ENST00000318881.6	+	2	646	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	SYT9_ENST00000396716.2_Missense_Mutation_p.P105S	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	137						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CCCTGACATTCCCCTCTCCAC	0.612000													9	7					0	0	0.001368	0	0
LRP5L	91355	broad.mit.edu	37	22	25753304	25753304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:25753304G>A	ENST00000444995.3	-	5	1056	c.356C>T	c.(355-357)tCc>tTc	p.S119F	LRP5L_ENST00000402785.2_Missense_Mutation_p.S119F|LRP5L_ENST00000402859.2_Missense_Mutation_p.S119F			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	119										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						CCACCCGAGGGAAGCATTGAC	0.602000													16	58					0	0	0.004990	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021436	46021436	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46021436C>T	ENST00000380102.2	+	1	940	c.915C>T	c.(913-915)acC>acT	p.T305T	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	305	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTGCACCACCTCCTGCTGCA	0.672000													14	32					0	0	0.004990	0	0
IGSF10	285313	broad.mit.edu	37	3	151171421	151171421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151171421G>A	ENST00000282466.3	-	3	465	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	156					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCACCAGGCGGAGAAAGTTG	0.408000													28	32					0	0	0.004656	0	0
ATP5L	10632	broad.mit.edu	37	11	118277725	118277725	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:118277725C>T	ENST00000300688.3	+	2	638	c.126C>T	c.(124-126)acC>acT	p.T42T	ATP5L_ENST00000529770.1_3'UTR|ATP5L_ENST00000524422.1_Silent_p.T42T	NM_006476.4	NP_006467.4	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G	42					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)		TTCCTCCCACCCCTGCTGAGA	0.463000													11	10					0	0	0.000673	0	0
LAMA3	3909	broad.mit.edu	37	18	21399891	21399891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:21399891G>A	ENST00000313654.9	+	19	2475	c.2234G>A	c.(2233-2235)cGa>cAa	p.R745Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R745Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	745					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R745Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAGACCTTCGATTTGGATTT	0.443000													26	34					0	0	0.005443	0	0
DGKZ	8525	broad.mit.edu	37	11	46388891	46388891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:46388891C>T	ENST00000454345.1	+	3	904	c.779C>T	c.(778-780)aCc>aTc	p.T260I	DGKZ_ENST00000421244.2_Missense_Mutation_p.T71I|DGKZ_ENST00000343674.6_Missense_Mutation_p.T88I|DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000395574.3_Missense_Mutation_p.T37I|DGKZ_ENST00000532868.2_Missense_Mutation_p.T76I|DGKZ_ENST00000456247.2_Missense_Mutation_p.T71I|DGKZ_ENST00000527911.1_Missense_Mutation_p.T71I|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000318201.8_Missense_Mutation_p.T71I	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	260	Poly-Pro.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCTCCGCCCACCCCTGGGGCC	0.662000													12	15					0	0	0.004007	0	0
DENND5A	23258	broad.mit.edu	37	11	9161242	9161242	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:9161242G>A	ENST00000328194.3	-	23	4160	c.3840C>T	c.(3838-3840)tcC>tcT	p.S1280S	DENND5A_ENST00000530044.1_3'UTR|DENND5A_ENST00000527700.1_Silent_p.S623S	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1280	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTTGACAAGGGACGTCTCCA	0.507000													8	10					0	0	0.004482	0	0
BTBD11	121551	broad.mit.edu	37	12	108051355	108051355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:108051355G>A	ENST00000280758.5	+	17	3703	c.3175G>A	c.(3175-3177)Gaa>Aaa	p.E1059K	BTBD11_ENST00000357167.4_Missense_Mutation_p.E596K|BTBD11_ENST00000494235.2_Missense_Mutation_p.E138K|BTBD11_ENST00000420571.2_Missense_Mutation_p.E940K	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1059						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGTCCTCATTGAAAACGAAGC	0.478000													20	31					0	0	0.001523	0	0
THBS1	7057	broad.mit.edu	37	15	39874122	39874122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39874122C>T	ENST00000260356.5	+	2	229	c.64C>T	c.(64-66)Cca>Tca	p.P22S		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	22					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAACCGCATTCCAGGTGAGTT	0.602000											OREG0023050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	23					0	0	0.004007	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382494	41382494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41382494C>T	ENST00000377801.3	-	2	320	c.246G>A	c.(244-246)atG>atA	p.M82I	PLCXD3_ENST00000328457.3_Missense_Mutation_p.M82I			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	82	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CAGTAAAATTCATTGTCTGAG	0.453000													25	43					0	0	0.002780	0	0
PRSS55	203074	broad.mit.edu	37	8	10389019	10389019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:10389019G>A	ENST00000328655.3	+	3	602	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	PRSS55_ENST00000522210.1_Missense_Mutation_p.E188K|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	188	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CACATGGCGCGAATGCTGGGT	0.607000													31	15					0	0	0.002096	0	0
LCA5L	150082	broad.mit.edu	37	21	40778104	40778104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:40778104C>T	ENST00000358268.2	-	10	2245	c.1717G>A	c.(1717-1719)Ggg>Agg	p.G573R	LCA5L_ENST00000380671.2_Missense_Mutation_p.G573R|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.G573R|LCA5L_ENST00000495240.1_5'UTR			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	573										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				GGCTCATACCCACTGTCAGAA	0.458000													34	54					0	0	0.005524	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24950850	24950850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:24950850G>A	ENST00000289968.6	-	17	1628	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	ARHGAP17_ENST00000303665.5_Intron|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	520					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GAAAGCGGGGGATATGTGCTT	0.592000													4	8					0	0	0.000248	0	0
DDX60L	91351	broad.mit.edu	37	4	169344861	169344861	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:169344861C>T	ENST00000511577.1	-	15	2242	c.1995G>A	c.(1993-1995)gaG>gaA	p.E665E	DDX60L_ENST00000505890.1_Silent_p.E665E|DDX60L_ENST00000260184.7_Silent_p.E665E			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	665							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)		CTGGGTATCTCTCCAGGAGTG	0.313000													13	29					0	0	0.004990	0	0
ENPP5	59084	broad.mit.edu	37	6	46129479	46129479	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46129479C>A	ENST00000371383.2	-	5	1278	c.1018G>T	c.(1018-1020)Ggt>Tgt	p.G340C	ENPP5_ENST00000230565.3_Missense_Mutation_p.G340C			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	340						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTATCGTAACCGTGGTTGCCT	0.358000													8	212					0.000274275	0.000510682	0.004482	1	0
GTF3C2	2976	broad.mit.edu	37	2	27552031	27552031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:27552031G>A	ENST00000359541.2	-	14	2425	c.1996C>T	c.(1996-1998)Ccc>Tcc	p.P666S	GTF3C2_ENST00000264720.3_Missense_Mutation_p.P666S			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	666						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTGTAGGGAAGCAGCCAG	0.517000													97	103					0	0	0.003610	0	0
CADM2	253559	broad.mit.edu	37	3	86115863	86115863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:86115863C>T	ENST00000383699.3	+	10	1772	c.1145C>T	c.(1144-1146)gCt>gTt	p.A382V	CADM2_ENST00000405615.2_Missense_Mutation_p.A415V|CADM2_ENST00000407528.2_Missense_Mutation_p.A413V	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	413					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCACCAGATGCTGATACAGCC	0.378000													28	40					0	0	0.005443	0	0
PRSS12	8492	broad.mit.edu	37	4	119216939	119216939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:119216939G>A	ENST00000296498.3	-	10	2192	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	637	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TTACCTTAAAGAATTTTTCCC	0.358000													33	45					0	0	0.001485	0	0
DTL	51514	broad.mit.edu	37	1	212216443	212216443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:212216443G>A	ENST00000366991.4	+	2	475	c.161G>A	c.(160-162)gGa>gAa	p.G54E	DTL_ENST00000475419.1_Intron|DTL_ENST00000542077.1_Intron	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	54					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CCTCCTTTTGGATGTACCTTC	0.403000													35	82					0	0	0.001287	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823898	38823898	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:38823898G>A	ENST00000303592.3	-	2	498	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	80					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGAAGAAGGCGATACACCAGA	0.687000													14	10					0	0	0.003163	0	0
CCDC88B	283234	broad.mit.edu	37	11	64119691	64119691	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64119691C>T	ENST00000356786.5	+	19	3233	c.3189C>T	c.(3187-3189)tcC>tcT	p.S1063S	CCDC88B_ENST00000359902.2_Silent_p.S215S|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1063					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CACGGCAGTCCCAGGAGGAGA	0.692000													4	6					0	0	0.000248	0	0
NUDT7	283927	broad.mit.edu	37	16	77775526	77775526	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:77775526C>T	ENST00000564085.1	+	5	559	c.490C>T	c.(490-492)Cca>Tca	p.P164S	NUDT7_ENST00000563839.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000268533.5_Silent_p.F132F|NUDT7_ENST00000437314.3_Silent_p.F79F|NUDT7_ENST00000564031.1_3'UTR	NM_001243657.1	NP_001230586.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	0	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						ACCACAACTTCCAGGCCCAGC	0.438000													26	36					0	0	0.005443	0	0
LRRC55	219527	broad.mit.edu	37	11	56949644	56949644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56949644G>A	ENST00000497933.1	+	1	424	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	63						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCAGGTGGTGGATTGTAGCAG	0.627000													14	13					0	0	0.003163	0	0
RXFP4	339403	broad.mit.edu	37	1	155912019	155912019	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155912019G>A	ENST00000368318.3	+	1	540	c.519G>A	c.(517-519)acG>acA	p.T173T		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	173						integral to membrane|plasma membrane	angiotensin type II receptor activity	p.V172fs*10(1)		endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCCTGGTGACGGTGCCCACAG	0.682000													46	31					0	0	0.003610	0	0
CCND2	894	broad.mit.edu	37	12	4409166	4409166	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:4409166C>T	ENST00000261254.3	+	5	1130	c.861C>T	c.(859-861)atC>atT	p.I287I		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	287					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TGCGGGATATCGACCTGTGAG	0.517000			T	IGL@	"""NHL,CLL"""								10	22					0	0	0.000673	0	0
EXPH5	23086	broad.mit.edu	37	11	108384262	108384262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:108384262G>A	ENST00000265843.4	-	6	2082	c.1972C>T	c.(1972-1974)Cca>Tca	p.P658S	EXPH5_ENST00000525344.1_Missense_Mutation_p.P651S|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.P582S|EXPH5_ENST00000443411.1_Missense_Mutation_p.P470S	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	658					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGCTTATTTGGAAAAATTTTC	0.448000													28	42					0	0	0.001512	0	0
CCDC60	160777	broad.mit.edu	37	12	119968742	119968742	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:119968742C>T	ENST00000327554.2	+	13	1890	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	475										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAAAAAGATCCTGGTGAAAC	0.488000													33	58					0	0	0.001706	0	0
NID1	4811	broad.mit.edu	37	1	236189432	236189432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:236189432G>A	ENST00000264187.6	-	8	1830	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	NID1_ENST00000366595.3_Missense_Mutation_p.S583F	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	583	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGTGGAGGAGGAAGTGATCAC	0.567000													18	31					0	0	0.000958	0	0
PKHD1	5314	broad.mit.edu	37	6	51890163	51890163	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:51890163T>A	ENST00000371117.3	-	32	4720	c.4445A>T	c.(4444-4446)gAa>gTa	p.E1482V	PKHD1_ENST00000340994.4_Missense_Mutation_p.E1482V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1482					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)					ACTTGCCTCTTCCCTTATGAA	0.542000													18	28					0	0	0.004990	0	0
FOXC2	2303	broad.mit.edu	37	16	86602184	86602184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:86602184G>A	ENST00000320354.4	+	1	1328	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	415	Ala/Pro-rich.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						gccgcagcccggggccgccgc	0.771000									Late-onset Hereditary Lymphedema				4	4					0	0	0.000602	0	0
AGBL1	123624	broad.mit.edu	37	15	86940627	86940627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:86940627G>A	ENST00000441037.2	+	17	2362	c.2267G>A	c.(2266-2268)cGa>cAa	p.R756Q	AGBL1_ENST00000421325.2_Missense_Mutation_p.R756Q|AGBL1_ENST00000389298.3_Missense_Mutation_p.R487Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	756					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATCACTGCTCGAGTTCATCCA	0.433000													13	29					0	0	0.002450	0	0
LMX1A	4009	broad.mit.edu	37	1	165183025	165183025	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:165183025G>A	ENST00000342310.3	-	5	904	c.522C>T	c.(520-522)ctC>ctT	p.L174L	LMX1A_ENST00000367893.4_Silent_p.L174L|LMX1A_ENST00000294816.2_Silent_p.L174L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	174						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)					CTGACTTGCAGAGACTTTCTT	0.488000													78	79					0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181702759	181702759	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181702759C>T	ENST00000526775.1	+	20	3243	c.3078C>T	c.(3076-3078)gtC>gtT	p.V1026V	CACNA1E_ENST00000367567.4_Silent_p.V652V|CACNA1E_ENST00000367570.1_Silent_p.V1045V|CACNA1E_ENST00000360108.3_Silent_p.V1026V|CACNA1E_ENST00000357570.5_Silent_p.V996V|CACNA1E_ENST00000367573.2_Silent_p.V1045V|CACNA1E_ENST00000358338.5_Silent_p.V977V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1045					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGGCCGGGTCATCAGCCAGA	0.652000													6	15					0	0	0.001168	0	0
ZNF511	118472	broad.mit.edu	37	10	135165858	135165858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:135165858G>A	ENST00000368554.4	+	8	869	c.847G>A	c.(847-849)Gag>Aag	p.E283K	PRAP1_ENST00000423766.1_Missense_Mutation_p.E125K|PRAP1_ENST00000433452.2_Missense_Mutation_p.E124K|PRAP1_ENST00000458230.1_Missense_Mutation_p.E115K|PRAP1_ENST00000463201.1_3'UTR			Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CCAGGGCGAGGAGAGGCCCCG	0.657000													17	45					0	0	0.004990	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601385	46601385	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:46601385C>T	ENST00000398637.5	-	7	1102	c.408G>A	c.(406-408)aaG>aaA	p.K136K	SLC38A1_ENST00000549049.1_Silent_p.K136K|SLC38A1_ENST00000552197.1_Silent_p.K136K|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Silent_p.K136K|SLC38A1_ENST00000439706.1_Silent_p.K136K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	136					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GTTCCCCCAGCTTTTCATACA	0.378000													33	67					0	0	0.005524	0	0
NFATC4	4776	broad.mit.edu	37	14	24845740	24845740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:24845740C>T	ENST00000413692.2	+	10	2630	c.2486C>T	c.(2485-2487)cCt>cTt	p.P829L	NFATC4_ENST00000553469.1_Missense_Mutation_p.P798L|NFATC4_ENST00000554661.1_Missense_Mutation_p.P696L|NFATC4_ENST00000556759.1_Missense_Mutation_p.P301L|NFATC4_ENST00000554050.1_Missense_Mutation_p.P766L|NFATC4_ENST00000556279.1_Missense_Mutation_p.P798L|NFATC4_ENST00000250373.4_Missense_Mutation_p.P766L|NFATC4_ENST00000556169.1_Missense_Mutation_p.P754L|NFATC4_ENST00000555802.1_Missense_Mutation_p.P54L|NFATC4_ENST00000557451.1_Missense_Mutation_p.P696L|NFATC4_ENST00000554344.1_Missense_Mutation_p.P696L|NFATC4_ENST00000555453.1_Missense_Mutation_p.P754L|NFATC4_ENST00000553708.1_Missense_Mutation_p.P766L|NFATC4_ENST00000555393.1_Missense_Mutation_p.P54L|NFATC4_ENST00000555167.1_Missense_Mutation_p.P301L|NFATC4_ENST00000555590.1_Missense_Mutation_p.P779L|NFATC4_ENST00000539237.2_Missense_Mutation_p.P798L|NFATC4_ENST00000422617.3_Missense_Mutation_p.P754L|NFATC4_ENST00000554591.1_Missense_Mutation_p.P829L|NFATC4_ENST00000553879.1_Missense_Mutation_p.P696L|NFATC4_ENST00000554966.1_Missense_Mutation_p.P779L|NFATC4_ENST00000554473.1_Missense_Mutation_p.P301L|NFATC4_ENST00000424781.2_Missense_Mutation_p.P779L|NFATC4_ENST00000557767.1_Missense_Mutation_p.P54L	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	766	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGATGTTCCCTGAGACTAGG	0.617000													16	7					0	0	0.000958	0	0
KCNMA1	3778	broad.mit.edu	37	10	78709044	78709044	+	Silent	SNP	G	G	A	rs2229009	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:78709044G>A	ENST00000286627.5	-	21	3343	c.2391C>T	c.(2389-2391)atC>atT	p.I797I	RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000406533.3_Silent_p.I859I|KCNMA1_ENST00000372443.1_Silent_p.I797I|KCNMA1_ENST00000286628.8_Silent_p.I855I|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404771.3_Silent_p.I855I|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000372440.1_Silent_p.I797I|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000354353.5_Silent_p.I858I|KCNMA1_ENST00000404857.1_Silent_p.I838I	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	855					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCCGGAGGCCGATCAGGGCTG	0.562000													19	19					0	0	0.001216	0	0
IYD	389434	broad.mit.edu	37	6	150690271	150690271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:150690271G>A	ENST00000344419.3	+	1	244	c.104G>A	c.(103-105)aGa>aAa	p.R35K	IYD_ENST00000229447.5_Missense_Mutation_p.R35K|IYD_ENST00000392256.2_Missense_Mutation_p.R35K|IYD_ENST00000392255.3_Missense_Mutation_p.R35K|IYD_ENST00000500320.3_Missense_Mutation_p.R35K	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	35					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		GGGGAGCCTAGAACCAGGGCC	0.488000													37	48					0	0	0.004878	0	0
ANKRD24	170961	broad.mit.edu	37	19	4224189	4224189	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4224189G>A	ENST00000600132.1	+	21	3639	c.3363_splice	c.e21+1	p.Q1121_splice	ANKRD24_ENST00000318934.4_Splice_Site_p.Q1121_splice|ANKRD24_ENST00000262970.5_Splice_Site_p.Q1211_splice	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1121										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ATGCCATTCAGGTGAGtggcc	0.597000													7	14					0	0	0.001984	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827025	43827025	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:43827025G>A	ENST00000420765.1	-	31	4331	c.4149C>T	c.(4147-4149)taC>taT	p.Y1383Y	PPIP5K1_ENST00000360135.4_Silent_p.Y1356Y|PPIP5K1_ENST00000381885.1_Silent_p.Y1379Y|PPIP5K1_ENST00000360301.4_Silent_p.Y1358Y|PPIP5K1_ENST00000396923.3_Silent_p.Y1383Y|PPIP5K1_ENST00000348806.6_Silent_p.Y1356Y|PPIP5K1_ENST00000334933.4_Silent_p.Y1358Y|PPIP5K1_ENST00000381879.4_Silent_p.Y1359Y	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1383					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						AGAACTCCTGGTATGGCTGGA	0.522000													36	47					0	0	0.004878	0	0
PROC	5624	broad.mit.edu	37	2	128186197	128186197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:128186197G>A	ENST00000453608.2	+	8	1234	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K	PROC_ENST00000234071.3_Missense_Mutation_p.R354K|PROC_ENST00000422777.3_Missense_Mutation_p.R354K|PROC_ENST00000409048.1_Missense_Mutation_p.R388K			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	354	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GAGGCCAAGAGAAACCGCACC	0.602000													41	76					0	0	0.003610	0	0
VPS52	6293	broad.mit.edu	37	6	33236869	33236869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33236869C>T	ENST00000445902.2	-	6	688	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	VPS52_ENST00000436044.2_Missense_Mutation_p.R32Q|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	157					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATTTCGAAGTCGAATGTTCAT	0.537000													40	55					0	0	0.001485	0	0
KCTD14	65987	broad.mit.edu	37	11	77734242	77734242	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:77734242G>A	ENST00000353172.5	-	1	98	c.54C>T	c.(52-54)acC>acT	p.T18T	RP11-7I15.4_ENST00000526730.1_RNA|NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron|KCTD14_ENST00000533144.1_Intron	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	18						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GGGGCAGAGGGGTCTGGCTCG	0.711000													19	23					0	0	0.002780	0	0
MOV10L1	54456	broad.mit.edu	37	22	50596499	50596499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:50596499G>A	ENST00000262794.5	+	23	3163	c.3080G>A	c.(3079-3081)cGg>cAg	p.R1027Q	MOV10L1_ENST00000395852.1_Missense_Mutation_p.R154Q|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R1007Q|MOV10L1_ENST00000545383.1_Missense_Mutation_p.R1027Q|MOV10L1_ENST00000395843.1_Missense_Mutation_p.R70Q|MOV10L1_ENST00000354853.2_Missense_Mutation_p.R70Q|MOV10L1_ENST00000395858.3_Missense_Mutation_p.R1027Q	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1027					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCGAGGCACGGGAGGGAAAA	0.577000													25	45					0	0	0.001512	0	0
FNDC1	84624	broad.mit.edu	37	6	159687136	159687136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:159687136C>T	ENST00000297267.9	+	21	5505	c.5305C>T	c.(5305-5307)Cca>Tca	p.P1769S	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1706S	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1769						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TATCTGGATCCCATTCGCTTT	0.488000													15	17					0	0	0.006122	0	0
C12orf74	338809	broad.mit.edu	37	12	93100769	93100769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:93100769C>T	ENST00000544406.2	+	2	628	c.362C>T	c.(361-363)tCa>tTa	p.S121L	C12orf74_ENST00000397833.3_Missense_Mutation_p.S121L			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	121										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GCAGCTGACTCACTGGAGCCC	0.552000													21	46					0	0	0.002299	0	0
GUSBP11	91316	broad.mit.edu	37	22	23980795	23980795	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:23980795G>A	ENST00000390329.2	-	0	191				AP000347.4_ENST00000430707.2_RNA																							CCTGTGGGTGGGGTGGGGGCT	0.597000													9	6					0	0	0.000443	0	0
ABCA8	10351	broad.mit.edu	37	17	66878783	66878783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:66878783C>T	ENST00000269080.2	-	28	3802	c.3665G>A	c.(3664-3666)aGa>aAa	p.R1222K	ABCA8_ENST00000586539.1_Missense_Mutation_p.R1262K|ABCA8_ENST00000430352.2_Missense_Mutation_p.R1262K	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1222						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TGTTCTCACTCTTTCCATCTG	0.348000													59	8					0	0	0.003610	0	0
GPR152	390212	broad.mit.edu	37	11	67220040	67220040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:67220040C>T	ENST00000312457.2	-	1	160	c.156G>A	c.(154-156)tgG>tgA	p.W52*	CABP4_ENST00000438189.2_5'UTR|CABP4_ENST00000542025.2_3'UTR	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	52						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGCCGGCCAGCCACGCCATCA	0.662000													5	7					0	0	0.000602	0	0
MICAL3	57553	broad.mit.edu	37	22	18300464	18300464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:18300464G>A	ENST00000441493.2	-	26	5315	c.4963C>T	c.(4963-4965)Ctc>Ttc	p.L1655F		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1655						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GAGCCCCTGAGAGTGGGGCGT	0.701000													10	21					0	0	0.001855	0	0
PCDH15	65217	broad.mit.edu	37	10	55721651	55721651	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55721651C>T	ENST00000373965.2	-	23	3285	c.2889_splice	c.e23-1	p.G964_splice	PCDH15_ENST00000395430.1_Splice_Site_p.G957_splice|PCDH15_ENST00000395445.1_Splice_Site_p.G964_splice|PCDH15_ENST00000395432.2_Splice_Site_p.G920_splice|PCDH15_ENST00000395433.1_Splice_Site_p.G935_splice|PCDH15_ENST00000361849.3_Splice_Site_p.G957_splice|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Splice_Site_p.G962_splice|PCDH15_ENST00000409834.1_Splice_Site_p.G568_splice|PCDH15_ENST00000437009.1_Splice_Site_p.G886_splice|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Splice_Site_p.G957_splice|PCDH15_ENST00000395438.1_Splice_Site_p.G957_splice|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	957	Cadherin 9.				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)				TGCAGGTAATCCCtaaaataa	0.308000										HNSCC(58;0.16)			21	35					0	0	0.001882	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779687	133779687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:133779687C>T	ENST00000372338.4	-	7	1392	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	FIBCD1_ENST00000448616.1_Missense_Mutation_p.G384S|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G226S	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	384	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		AACCTCATGCCGCTGTGCTTC	0.632000													50	10					0	0	0.003610	0	0
APC2	10297	broad.mit.edu	37	19	1465875	1465875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1465875G>A	ENST00000535453.1	+	14	4288	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.E859K|APC2_ENST00000238483.4_Missense_Mutation_p.E585K			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	859					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCAGCTGGTGGAGGACATCTC	0.692000													6	7					0	0	0.001984	0	0
RNPEP	6051	broad.mit.edu	37	1	201974754	201974754	+	Silent	SNP	C	C	A	rs145130543		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201974754C>A	ENST00000295640.4	+	11	1906	c.1863C>A	c.(1861-1863)ctC>ctA	p.L621L	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Silent_p.L582L	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	621					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CCCAGACCCTCGCCAAGGAGA	0.542000													44	40					1.23103e-26	2.31847e-26	0.003214	1	0
MROH8	140699	broad.mit.edu	37	20	35738759	35738759	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:35738759C>T	ENST00000400441.3	-	22	2814		c.e22-1		MROH8_ENST00000441008.2_Splice_Site_p.G925_splice|MROH8_ENST00000217333.8_Splice_Site					maestro heat-like repeat family member 8																		ACTTTTTTTCCTAAGTGTGGA	0.408000													102	56					0	0	0.003610	0	0
FLT3LG	2323	broad.mit.edu	37	19	49982275	49982275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49982275C>T	ENST00000595510.1	+	5	507	c.206C>T	c.(205-207)tCc>tTc	p.S69F	FLT3LG_ENST00000204637.2_Missense_Mutation_p.S69F|FLT3LG_ENST00000344019.3_Missense_Mutation_p.S151F|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000594009.1_Missense_Mutation_p.S151F|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Missense_Mutation_p.S133F|FLT3LG_ENST00000597551.1_Missense_Mutation_p.S151F|FLT3LG_ENST00000600429.1_Missense_Mutation_p.S151F			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	151					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CAGAACTTCTCCCGGTGCCTG	0.642000													6	10					0	0	0.004482	0	0
PTPRC	5788	broad.mit.edu	37	1	198711129	198711129	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:198711129C>T	ENST00000367376.2	+	24	2700	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	PTPRC_ENST00000442510.2_Silent_p.F845F|PTPRC_ENST00000594404.1_Silent_p.F682F|PTPRC_ENST00000352140.3_Silent_p.F795F|PTPRC_ENST00000348564.6_Silent_p.F684F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	843	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GCAATTTCTTCAGTGGTCCCA	0.473000													7	20					0	0	0.003080	0	0
BABAM1	29086	broad.mit.edu	37	19	17387376	17387376	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17387376C>T	ENST00000359435.4	+	7	835	c.642C>T	c.(640-642)atC>atT	p.I214I	BABAM1_ENST00000447614.2_Silent_p.I214I|BABAM1_ENST00000601043.1_Silent_p.I214I|BABAM1_ENST00000598188.1_Silent_p.I214I|BABAM1_ENST00000595632.1_Silent_p.I139I|CTD-2278I10.6_ENST00000596542.1_Silent_p.I136I	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	214	VWFA-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						TCCGCACCATCCTTGTCTACA	0.617000													4	4					0	0	0.000248	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421925	153421925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:153421925C>T	ENST00000369951.4	+	5	961	c.901C>T	c.(901-903)Cct>Tct	p.P301S		NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	301					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCTTCCACCCTTTGATGGC	0.542000													86	19					0	0	0.003610	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263446	144263446	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:144263446C>T	ENST00000360537.2	-	5	2420	c.507G>A	c.(505-507)aaG>aaA	p.K169K	PLAGL1_ENST00000429150.1_Silent_p.K169K|PLAGL1_ENST00000367572.1_Silent_p.K117K|PLAGL1_ENST00000392309.1_Silent_p.K169K|PLAGL1_ENST00000437412.1_Silent_p.K117K|PLAGL1_ENST00000416623.1_Silent_p.K169K|PLAGL1_ENST00000444202.1_Silent_p.K169K|PLAGL1_ENST00000367571.1_Silent_p.K169K|PLAGL1_ENST00000392307.1_Silent_p.K117K|PLAGL1_ENST00000354765.2_Silent_p.K169K			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	169					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GTCGCACATCCTTCCGGGTGT	0.572000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	135	181					0	0	0.003610	0	0
TOX2	84969	broad.mit.edu	37	20	42635366	42635366	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:42635366C>T	ENST00000358131.5	+	3	580	c.372C>T	c.(370-372)ctC>ctT	p.L124L	TOX2_ENST00000341197.3_Silent_p.L115L|TOX2_ENST00000372999.1_Silent_p.L73L|TOX2_ENST00000423191.1_Silent_p.L73L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCATGGACCTCCCAGCCATCA	0.637000													20	12					0	0	0.001216	0	0
COL6A2	1292	broad.mit.edu	37	21	47542842	47542842	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:47542842A>G	ENST00000300527.4	+	21	1766	c.1662A>G	c.(1660-1662)aaA>aaG	p.K554K	COL6A2_ENST00000310645.5_Silent_p.K554K|COL6A2_ENST00000357838.4_Silent_p.K554K|COL6A2_ENST00000409416.1_Silent_p.K554K|COL6A2_ENST00000397763.1_Silent_p.K554K	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	554	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AAGGAGAGAAAGGAGAGCCTG	0.587000													9	25					0	0	0.000673	0	0
PHF20L1	51105	broad.mit.edu	37	8	133806708	133806708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133806708C>T	ENST00000395386.2	+	3	435	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000315808.10_Missense_Mutation_p.H46Y|PHF20L1_ENST00000337920.4_Missense_Mutation_p.H46Y|PHF20L1_ENST00000395390.2_Missense_Mutation_p.H46Y|PHF20L1_ENST00000395383.1_Missense_Mutation_p.H46Y|PHF20L1_ENST00000395376.1_Missense_Mutation_p.H46Y|PHF20L1_ENST00000395379.1_Missense_Mutation_p.H46Y|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	46	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATGTTGGTCCATTTTGAGCG	0.383000													19	45					0	0	0.001216	0	0
ZNF763	284390	broad.mit.edu	37	19	12089716	12089716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:12089716C>T	ENST00000343949.5	+	4	1141	c.986C>T	c.(985-987)tCc>tTc	p.S329F	ZNF763_ENST00000545530.1_Missense_Mutation_p.S204F|ZNF763_ENST00000590798.1_Missense_Mutation_p.S346F|ZNF763_ENST00000358987.3_Missense_Mutation_p.S326F|ZNF763_ENST00000538752.1_Missense_Mutation_p.S346F	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AGTTACAGATCCTATCTTAGA	0.403000													25	40					0	0	0.002780	0	0
SPAG7	9552	broad.mit.edu	37	17	4862935	4862935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:4862935G>A	ENST00000573366.1	-	7	1283	c.425C>T	c.(424-426)cCc>cTc	p.P142L	SPAG7_ENST00000206020.3_Missense_Mutation_p.P193L|SPAG7_ENST00000575142.1_3'UTR			O75391	SPAG7_HUMAN	sperm associated antigen 7	193						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ATTGGCCACGGGCACTAGGGG	0.612000													44	8					0	0	0.002222	0	0
IL10RA	3587	broad.mit.edu	37	11	117869548	117869548	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117869548A>G	ENST00000227752.3	+	7	1049	c.929A>G	c.(928-930)aAc>aGc	p.N310S	IL10RA_ENST00000541785.1_Missense_Mutation_p.N290S|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000545409.1_Missense_Mutation_p.N161S	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	310						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GAGCTGAAGAACTTGGACCTG	0.597000													10	16					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179588212	179588212	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179588212C>T	ENST00000589042.1	-	74	21839	c.21615G>A	c.(21613-21615)ggG>ggA	p.G7205G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Silent_p.G6888G|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.G5961G|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6888	Ig-like 54.						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)			AGGTGTATTCCCCACTCTGAG	0.433000													16	15					0	0	0.004007	0	0
TCP11L2	255394	broad.mit.edu	37	12	106708261	106708261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:106708261C>T	ENST00000546625.1	+	3	442	c.283C>T	c.(283-285)Cca>Tca	p.P95S	TCP11L2_ENST00000547153.1_Missense_Mutation_p.P95S|TCP11L2_ENST00000299045.3_Missense_Mutation_p.P95S			Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	95										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						AGAGGCTCTCCCAGAAAAGAG	0.418000													10	34					0	0	0.000673	0	0
FLNA	2316	broad.mit.edu	37	X	153590643	153590643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:153590643C>T	ENST00000422373.1	-	18	2871	c.2623G>A	c.(2623-2625)Gtg>Atg	p.V875M	FLNA_ENST00000360319.4_Missense_Mutation_p.V875M|FLNA_ENST00000369850.3_Missense_Mutation_p.V875M|FLNA_ENST00000344736.4_Missense_Mutation_p.V875M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	875					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGGCCTTCACCTTACTGGCG	0.662000													25	1					0	0	0.003330	0	0
GSE1	23199	broad.mit.edu	37	16	85682309	85682309	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:85682309C>T	ENST00000253458.7	+	3	554	c.378C>T	c.(376-378)atC>atT	p.I126I	GSE1_ENST00000405402.2_Silent_p.I22I|GSE1_ENST00000393243.1_Silent_p.I53I	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein																		TGGTGACCATCGCTCCAACCA	0.677000													17	22					0	0	0.001216	0	0
MYO5B	4645	broad.mit.edu	37	18	47438483	47438483	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:47438483G>A	ENST00000285039.7	-	18	2450	c.2151C>T	c.(2149-2151)gcC>gcT	p.A717A		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	717	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGTCTGTGTTGGCGAGCTCTC	0.562000													77	82					0	0	0.003610	0	0
ABCC6	368	broad.mit.edu	37	16	16286741	16286741	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:16286741G>A	ENST00000205557.7	-	11	1406	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	459	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGAGGCTCAGGAAGACAGCGA	0.587000													18	38					0	0	0.003330	0	0
MAPK10	5602	broad.mit.edu	37	4	86985432	86985432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:86985432G>A	ENST00000395169.3	-	11	1703	c.983C>T	c.(982-984)gCc>gTc	p.A328V	MAPK10_ENST00000395157.3_Missense_Mutation_p.A221V|MAPK10_ENST00000449047.2_Missense_Mutation_p.A221V|MAPK10_ENST00000395161.2_Missense_Mutation_p.A366V|MAPK10_ENST00000359221.3_Missense_Mutation_p.A366V|MAPK10_ENST00000395166.1_Missense_Mutation_p.A328V|MAPK10_ENST00000361569.2_Missense_Mutation_p.A366V|MAPK10_ENST00000395160.3_Missense_Mutation_p.A221V	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	366	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTCCACTTCGGCTGGGTCATA	0.443000													47	58					0	0	0.003610	0	0
NOL4	8715	broad.mit.edu	37	18	31538379	31538379	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:31538379G>A	ENST00000261592.5	-	7	1357	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	NOL4_ENST00000535384.1_Missense_Mutation_p.P69S|NOL4_ENST00000535475.1_Missense_Mutation_p.P199S|NOL4_ENST00000269185.4_Missense_Mutation_p.P240S|NOL4_ENST00000538587.1_Missense_Mutation_p.P280S|NOL4_ENST00000589544.1_Missense_Mutation_p.P354S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	354						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTATGTGCAGGAGACTGAAAA	0.383000													33	43					0	0	0.002096	0	0
AADAC	13	broad.mit.edu	37	3	151545418	151545418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151545418C>T	ENST00000232892.6	+	5	784	c.658C>T	c.(658-660)Cct>Tct	p.P220S	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	220					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTTAATTTATCCTGCCCTTCA	0.348000													23	33					0	0	0.003330	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865634	6865634	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:6865634C>T	ENST00000307659.5	+	7	3980	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	KIAA0232_ENST00000425103.1_Silent_p.F1175F	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1175							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CTGGAAAATTCCTTCCCAGGT	0.413000													28	43					0	0	0.001786	0	0
COL7A1	1294	broad.mit.edu	37	3	48623767	48623767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48623767G>A	ENST00000328333.8	-	26	3655	c.3548C>T	c.(3547-3549)tCt>tTt	p.S1183F	COL7A1_ENST00000454817.1_Missense_Mutation_p.S1183F	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1183	Nonhelical region (NC1).|VWFA 2.				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)		CTCCTTACCAGAAGCCTGGGC	0.587000													56	64					0	0	0.003610	0	0
FRMD5	84978	broad.mit.edu	37	15	44166470	44166470	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:44166470C>T	ENST00000417257.1	-	14	1502	c.1326G>A	c.(1324-1326)ctG>ctA	p.L442L	FRMD5_ENST00000484674.1_Silent_p.L348L|FRMD5_ENST00000402883.1_Silent_p.L442L	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	442						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AAAGCAACATCAGCTCCAGGC	0.587000													16	30					0	0	0.004007	0	0
CLCA4	22802	broad.mit.edu	37	1	87040296	87040296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87040296G>A	ENST00000370563.3	+	10	1583	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	514						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)		AGTACAGTGGGAAAGGACACG	0.393000													43	36					0	0	0.002852	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996862	62996862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62996862C>T	ENST00000306494.6	-	1	262	c.263G>A	c.(262-264)tGt>tAt	p.C88Y	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	88					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AAAGCGACGACACTTCTCTGG	0.542000													22	29					0	0	0.001523	0	0
DNAH9	1770	broad.mit.edu	37	17	11535903	11535903	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:11535903G>A	ENST00000262442.3	+	8	1586		c.e8-1		DNAH9_ENST00000454412.2_Splice_Site	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTCTCTTCAGGACTTTGAAA	0.383000													35	13					0	0	0.001485	0	0
TTN	7273	broad.mit.edu	37	2	179616047	179616047	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179616047G>A	ENST00000360870.5	-	46	11302	c.11080C>T	c.(11080-11082)Ctg>Ttg	p.L3694L	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9540	Ig-like 22.						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)			TCCTTGTCCAGGAAACTTTCA	0.343000													41	56					0	0	0.002522	0	0
RP11-123M6.2	0	broad.mit.edu	37	14	101318772	101318772	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:101318772G>A	ENST00000554041.1	-	0	143				MIR770_ENST00000390219.1_RNA																							AGGGCCACATGAGCTGGGCCT	0.597000													28	8					0	0	0.002445	0	0
CTIF	9811	broad.mit.edu	37	18	46385732	46385732	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:46385732G>A	ENST00000256413.3	+	12	1894	c.1599G>A	c.(1597-1599)cgG>cgA	p.R533R	CTIF_ENST00000382998.4_Silent_p.R535R	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	533	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GTACAGGCCGGCTGCTGGAGG	0.637000													34	40					0	0	0.005524	0	0
PLIN4	729359	broad.mit.edu	37	19	4511347	4511347	+	Silent	SNP	C	C	T	rs71263980		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4511347C>T	ENST00000301286.3	-	3	2582	c.2583G>A	c.(2581-2583)gtG>gtA	p.V861V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	861	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCCCTTTGGCCACTTTCGCAG	0.577000													24	62					0	0	0.005443	0	0
FGF7	2252	broad.mit.edu	37	15	49775424	49775424	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:49775424G>A	ENST00000267843.4	+	3	974	c.363G>A	c.(361-363)atG>atA	p.M121I	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	121					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ATCTTGCAATGAACAAGGAAG	0.353000													17	30					0	0	0.001216	0	0
KCNB1	3745	broad.mit.edu	37	20	48098645	48098645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:48098645C>T	ENST00000371741.4	-	1	539	c.373G>A	c.(373-375)Gac>Aac	p.D125N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	125					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGATCTCGTCGATGCCCCAG	0.597000													16	52					0	0	0.006122	0	0
CFAP54	144535	broad.mit.edu	37	12	97073425	97073425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:97073425G>A	ENST00000524981.3	+	7	964	c.964G>A	c.(964-966)Gac>Aac	p.D322N				Q6ZTY8	CL063_HUMAN		296										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GGACGTGACAGACACCTTGAG	0.458000													46	69					0	0	0.003214	0	0
IKZF1	10320	broad.mit.edu	37	7	50468158	50468158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:50468158G>A	ENST00000331340.3	+	8	1548	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	IKZF1_ENST00000438033.1_Missense_Mutation_p.E378K|IKZF1_ENST00000439701.1_Missense_Mutation_p.E423K|IKZF1_ENST00000359197.5_Missense_Mutation_p.E423K|IKZF1_ENST00000357364.4_Missense_Mutation_p.E378K|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Missense_Mutation_p.E378K|IKZF1_ENST00000346667.4_Missense_Mutation_p.E235K|IKZF1_ENST00000349824.4_Missense_Mutation_p.E322K	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	465					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GTACAAGTGCGAACACTGCCG	0.627000			"""D,T"""	BCL6	"""ALL, DLBCL"""								7	9					0	0	0.003080	0	0
TACC2	10579	broad.mit.edu	37	10	123985961	123985961	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123985961C>T	ENST00000369005.1	+	13	8029	c.7689C>T	c.(7687-7689)ccC>ccT	p.P2563P	TACC2_ENST00000360561.3_Silent_p.P641P|TACC2_ENST00000515603.1_Silent_p.P2518P|TACC2_ENST00000368999.1_Silent_p.P653P|TACC2_ENST00000453444.2_Silent_p.P2567P|TACC2_ENST00000334433.3_Silent_p.P2563P|TACC2_ENST00000260733.3_Silent_p.P641P|TACC2_ENST00000369001.1_Silent_p.P267P|TACC2_ENST00000513429.1_Silent_p.P709P|TACC2_ENST00000515273.1_Silent_p.P2567P|TACC2_ENST00000369004.3_Silent_p.P653P|TACC2_ENST00000369000.1_Silent_p.P263P|TACC2_ENST00000358010.1_Silent_p.P709P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2563						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGTCATCTCCCGTCCGCATGT	0.522000													4	9					0	0	0.000248	0	0
KIF18A	81930	broad.mit.edu	37	11	28058204	28058204	+	Silent	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:28058204A>C	ENST00000263181.6	-	14	2246	c.1956T>G	c.(1954-1956)tcT>tcG	p.S652S		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	652					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTCCACCTGAAGATGAGCCTA	0.333000													20	19					0	0	0.001216	0	0
AGRN	375790	broad.mit.edu	37	1	981387	981387	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:981387C>T	ENST00000379370.2	+	16	2774	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	908					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCTGTGAGTTCGGTGCGCGGT	0.657000													24	18					0	0	0.003330	0	0
CACNA1S	779	broad.mit.edu	37	1	201063147	201063147	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201063147C>T	ENST00000362061.3	-	3	487	c.261G>A	c.(259-261)gaG>gaA	p.E87E	CACNA1S_ENST00000367338.3_Silent_p.E87E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	87					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACTCCAGCTTCTCCTGTGGGA	0.547000													27	18					0	0	0.003271	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882665	144882665	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:144882665G>A	ENST00000369359.4	-	27	3803	c.3765C>T	c.(3763-3765)ctC>ctT	p.L1255L	PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Silent_p.L1118L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.L1118L|PDE4DIP_ENST00000530740.1_Silent_p.L1255L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1118					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)		GTTCTTTGAGGAGGTTGATGA	0.453000			T	PDGFRB	MPD								72	171					0	0	0.003610	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14764014	14764014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:14764014G>A	ENST00000358984.4	+	7	1330	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E384K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	384										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAATAAAACTGAAGTTTTGGA	0.368000													9	2					0	0	0.004482	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49663121	49663121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:49663121G>A	ENST00000249601.4	-	6	1012	c.716C>T	c.(715-717)cCc>cTc	p.P239L	ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P149L|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P245L|ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P130L|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P255L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	239	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACGGGCTCGGGGAGCTCCCG	0.662000													6	17					0	0	0.001168	0	0
ATP2A1	487	broad.mit.edu	37	16	28892244	28892244	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:28892244C>T	ENST00000395503.4	+	4	412	c.228C>T	c.(226-228)gcC>gcT	p.A76A	ATP2A1_ENST00000536376.1_5'UTR|ATP2A1_ENST00000357084.3_Silent_p.A76A	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	76					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AGGTGCTGGCCTGGTTTGAGG	0.522000													26	33					0	0	0.005443	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891226	29891226	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:29891226G>A	ENST00000308713.5	-	9	2059	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P441L|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P397L|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P467L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	511	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGTTCTGTGGGATCCACACA	0.622000													52	79					0	0	0.003610	0	0
ROBO2	6092	broad.mit.edu	37	3	77666791	77666791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:77666791C>T	ENST00000461745.1	+	22	4321	c.3421C>T	c.(3421-3423)Cct>Tct	p.P1141S	ROBO2_ENST00000332191.8_Missense_Mutation_p.P1141S|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1157S|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1141					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCTTCTTCTCCTGCTATCTC	0.507000													20	36					0	0	0.002299	0	0
PKHD1	5314	broad.mit.edu	37	6	51586802	51586802	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:51586802A>G	ENST00000340994.4	-	61	10433	c.10173T>C	c.(10171-10173)gcT>gcC	p.A3391A	PKHD1_ENST00000371117.3_Intron	NM_170724.2	NP_733842.2	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3391					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)					AAATCTTCAAAGCCTGCTCAG	0.448000													15	34					0	0	0.000958	0	0
PSG11	5680	broad.mit.edu	37	19	43523025	43523025	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43523025G>A	ENST00000401740.1	-	3	709	c.606C>T	c.(604-606)ctC>ctT	p.L202L	PSG11_ENST00000306322.7_Silent_p.L80L|PSG11_ENST00000403486.1_Silent_p.L80L|PSG11_ENST00000320078.7_Silent_p.L202L|PSG11_ENST00000595312.1_5'UTR			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	202	Ig-like C2-type 1.				female pregnancy	extracellular region		p.L202L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAAATAGAAAGAGGGTCCTGT	0.507000													127	160					0	0	0.003610	0	0
C5AR1	728	broad.mit.edu	37	19	47823764	47823764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:47823764G>A	ENST00000355085.3	+	2	752	c.730G>A	c.(730-732)Gtg>Atg	p.V244M		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	244					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACTCAAGGTGGTGGTGGCAGT	0.572000													22	38					0	0	0.002299	0	0
PDE1B	5153	broad.mit.edu	37	12	54968957	54968957	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:54968957C>T	ENST00000243052.3	+	11	1576	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V	PDE1B_ENST00000550620.1_Silent_p.V360V|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.V339V	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	380	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AGTGGTTGGTCCACAGCCGTT	0.577000													24	46					0	0	0.004656	0	0
CACNA2D1	781	broad.mit.edu	37	7	81579768	81579768	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:81579768G>A	ENST00000356860.3	-	39	3554	c.3216C>T	c.(3214-3216)atC>atT	p.I1072I	CACNA2D1_ENST00000535308.1_Silent_p.I284I|CACNA2D1_ENST00000356253.5_Silent_p.I1084I	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1084						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)	GGATTCCAATGATATACCACA	0.388000													38	29					0	0	0.001287	0	0
RAE1	8480	broad.mit.edu	37	20	55949902	55949902	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:55949902C>T	ENST00000527947.1	+	11	1243	c.1065C>T	c.(1063-1065)agC>agT	p.S355S	RAE1_ENST00000371242.2_Intron|RAE1_ENST00000395840.2_Intron|RAE1_ENST00000395841.2_Intron			P78406	RAE1L_HUMAN	ribonucleic acid export 1	0					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			GGCAGCagagccaggctctgg	0.552000													8	25					0	0	0.004482	0	0
CXCR1	3577	broad.mit.edu	37	2	219029809	219029809	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219029809C>T	ENST00000295683.2	-	2	246	c.126G>A	c.(124-126)gtG>gtA	p.V42V		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	42					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AGGCGATGATCACAACATACT	0.498000													30	68					0	0	0.001786	0	0
SCN10A	6336	broad.mit.edu	37	3	38739607	38739607	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38739607A>C	ENST00000449082.2	-	27	5103	c.5104T>G	c.(5104-5106)Ttc>Gtc	p.F1702V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1702					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAGGTGGTGAAGAAGATGATG	0.552000													24	32					0	0	0.002780	0	0
MRPL10	124995	broad.mit.edu	37	17	45904462	45904462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45904462G>A	ENST00000290208.7	-	3	813	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	MRPL10_ENST00000414011.1_Missense_Mutation_p.L121F|MRPL10_ENST00000351111.2_Missense_Mutation_p.L111F			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	111					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TGTCGCATAAGAAGCTTGTCC	0.567000													53	8					0	0	0.003610	0	0
OR4C15	81309	broad.mit.edu	37	11	55322523	55322523	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55322523C>T	ENST00000314644.2	+	1	741	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATACTCACATCTTTGGCCTCA	0.448000										HNSCC(20;0.049)			13	31					0	0	0.001368	0	0
CDH26	60437	broad.mit.edu	37	20	58569433	58569433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:58569433C>T	ENST00000348616.4	+	11	1855	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Missense_Mutation_p.H519Y	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	519					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGAGCCCCTCCACATCGAGGC	0.547000													9	61					0	0	0.004482	0	0
SLIT2	9353	broad.mit.edu	37	4	20598237	20598237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:20598237C>T	ENST00000504154.1	+	32	3772	c.3520C>T	c.(3520-3522)Cct>Tct	p.P1174S	SLIT2_ENST00000503837.1_Missense_Mutation_p.P1170S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P1166S|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1187S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1174	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCTTCAGATTCCTTCAGCCAA	0.388000													21	14					0	0	0.001216	0	0
ZG16B	124220	broad.mit.edu	37	16	2882090	2882090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2882090C>T	ENST00000382280.3	+	4	636	c.557C>T	c.(556-558)cCa>cTa	p.P186L	ZG16B_ENST00000572863.1_Missense_Mutation_p.P156L	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	186						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGAATTATCCACTAGAGGAG	0.562000													22	39					0	0	0.002299	0	0
IL37	27178	broad.mit.edu	37	2	113675276	113675276	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:113675276C>T	ENST00000263326.3	+	4	372	c.330C>T	c.(328-330)ctC>ctT	p.L110L	IL37_ENST00000353225.3_Silent_p.L70L|IL37_ENST00000352179.3_Silent_p.L89L|IL37_ENST00000311328.2_Silent_p.L84L|IL37_ENST00000349806.3_Silent_p.L49L	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	110					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						GTCCGATTCTCCTGGGGGTCT	0.473000													51	78					0	0	0.003610	0	0
NRIP1	8204	broad.mit.edu	37	21	16340338	16340338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:16340338G>A	ENST00000400202.1	-	3	888	c.176C>T	c.(175-177)cCc>cTc	p.P59L	NRIP1_ENST00000318948.4_Missense_Mutation_p.P59L|NRIP1_ENST00000400199.1_Missense_Mutation_p.P59L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	59					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTGACAGGTGGGAAATGCACT	0.473000													17	19					0	0	0.004990	0	0
PTGIS	5740	broad.mit.edu	37	20	48130849	48130849	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:48130849G>A	ENST00000244043.4	-	7	968	c.939C>T	c.(937-939)ctC>ctT	p.L313L	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	313					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGATACTCTCGAGCTCTCCGC	0.587000													12	40					0	0	0.001368	0	0
AGPAT9	84803	broad.mit.edu	37	4	84511401	84511401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:84511401C>T	ENST00000395226.2	+	7	912	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S	AGPAT9_ENST00000264409.4_Missense_Mutation_p.P232S	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	232					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CCATACTTCCCCCATTGATGT	0.398000													16	39					0	0	0.004990	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107163	120107163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:120107163G>A	ENST00000307128.5	+	6	816	c.603G>A	c.(601-603)atG>atA	p.M201I		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	201							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CATCAAGAATGGTTAAATTTA	0.348000													19	38					0	0	0.002299	0	0
TSPY2	64591	broad.mit.edu	37	Y	6115606	6115606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrY:6115606G>A	ENST00000320701.4	+	3	614	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	TSPY2_ENST00000383042.1_Missense_Mutation_p.E190K	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	190					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						CTGACAGGTGGAAGAAGAGAA	0.448000													29	12					0	0	0.001271	0	0
PDCL2	132954	broad.mit.edu	37	4	56428590	56428590	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:56428590C>T	ENST00000295645.4	-	5	654	c.552G>A	c.(550-552)ggG>ggA	p.G184G		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	184										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TGAGATTTATCCCTCCACATT	0.323000													14	44					0	0	0.004007	0	0
TBC1D5	9779	broad.mit.edu	37	3	17333420	17333420	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:17333420C>T	ENST00000253692.7	-	15	2876	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	TBC1D5_ENST00000429924.2_Silent_p.L356L|TBC1D5_ENST00000429383.4_Silent_p.L404L|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Silent_p.L404L	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	404						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						CCTTAAGAATCAGTGAGTGTA	0.403000													18	30					0	0	0.001216	0	0
TJP3	27134	broad.mit.edu	37	19	3744028	3744028	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3744028C>T	ENST00000541714.2	+	15	2397	c.1935C>T	c.(1933-1935)atC>atT	p.I645I	TJP3_ENST00000587686.1_Silent_p.I664I|TJP3_ENST00000382008.3_Silent_p.I659I|TJP3_ENST00000262968.9_Silent_p.I678I|TJP3_ENST00000539908.2_Silent_p.I609I|TJP3_ENST00000589378.1_Silent_p.I654I	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	659	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTTGAAATCGCAGGTGAGA	0.512000													35	49					0	0	0.005524	0	0
XIST	7503	broad.mit.edu	37	X	73062678	73062678	+	RNA	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73062678T>A	ENST00000429829.1	-	0	9910					NR_001564.2																						CAGCACAATCTTACCTAATAG	0.493000													25	5					0	0	0.003330	0	0
SHD	56961	broad.mit.edu	37	19	4283085	4283085	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4283085C>T	ENST00000543264.2	+	3	1901	c.438C>T	c.(436-438)acC>acT	p.T146T	SHD_ENST00000599689.1_Silent_p.T146T	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	146										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTATGACACCCCTTATGAGG	0.617000													13	24					0	0	0.002450	0	0
ME1	4199	broad.mit.edu	37	6	84055912	84055912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:84055912C>T	ENST00000369705.3	-	5	696	c.580G>A	c.(580-582)Gat>Aat	p.D194N	ME1_ENST00000541327.1_Missense_Mutation_p.D28N|ME1_ENST00000543031.1_Missense_Mutation_p.D119N	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	194					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	GTTCCCACATCCAGAATGACA	0.413000													25	41					0	0	0.001271	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963846	66963846	+	Missense_Mutation	SNP	G	G	A	rs141686243		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:66963846G>A	ENST00000276570.5	+	3	351	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	22	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.E22K(2)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGCTCTATACGAAATTCTTGG	0.398000													62	31					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152285609	152285609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152285609C>T	ENST00000368799.1	-	3	1788	c.1753G>A	c.(1753-1755)Ggg>Agg	p.G585R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	585	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACGTGACCCTGAGTGCCTG	0.567000									Ichthyosis				115	139					0	0	0.003610	0	0
NTN4	59277	broad.mit.edu	37	12	96063853	96063853	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:96063853C>T	ENST00000343702.4	-	8	2028		c.e8+1		PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000344911.4_Splice_Site|NTN4_ENST00000538383.1_Splice_Site|NTN4_ENST00000553059.1_Intron	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4						axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTCAGACTCACCATATGAATA	0.348000													7	24					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13729617	13729617	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13729617G>A	ENST00000265104.4	-	69	11918	c.11814C>T	c.(11812-11814)atC>atT	p.I3938I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3938					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)					TTATGTCCAGGATCCATTTTG	0.368000									Kartagener syndrome				35	52					0	0	0.004878	0	0
PCLO	27445	broad.mit.edu	37	7	82580373	82580373	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82580373C>T	ENST00000423517.2	-	6	9868	c.9531G>A	c.(9529-9531)acG>acA	p.T3177T	PCLO_ENST00000333891.8_Silent_p.T3177T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3108	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T3177T(2)|p.T3108T(1)		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						CAGAGTCTATCGTCTCAGCAG	0.413000													27	13					0	0	0.001512	0	0
GPR176	11245	broad.mit.edu	37	15	40093565	40093565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:40093565G>A	ENST00000299092.3	-	4	1511	c.1313C>T	c.(1312-1314)cCt>cTt	p.P438L	GPR176_ENST00000561100.1_Missense_Mutation_p.P439L|GPR176_ENST00000543580.1_Missense_Mutation_p.P394L	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	439					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGGTTCCACAGGGGCTGCCGG	0.582000													33	54					0	0	0.003271	0	0
OR8B3	390271	broad.mit.edu	37	11	124266917	124266917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124266917C>T	ENST00000354597.3	-	1	347	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	111					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)		ATGTAACATTCAGAGATGACA	0.388000													17	23					0	0	0.006122	0	0
OR52N5	390075	broad.mit.edu	37	11	5799757	5799757	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5799757G>A	ENST00000317093.2	-	1	140	c.108C>T	c.(106-108)tcC>tcT	p.S36S	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAGTGGGAGGGAGATCCATA	0.383000													43	60					0	0	0.003214	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49211794	49211794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49211794G>A	ENST00000332780.2	+	3	708	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	167						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ACCCTGCTATGGGGCCTCCAC	0.612000													14	28					0	0	0.000958	0	0
PSG8	440533	broad.mit.edu	37	19	43262217	43262217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43262217C>T	ENST00000404209.4	-	3	742	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	PSG8_ENST00000406636.3_Missense_Mutation_p.E94K|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.E216K	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	216	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTTCACATTCATAGGGTCCT	0.512000													83	120					0	0	0.003610	0	0
FMNL2	114793	broad.mit.edu	37	2	153482066	153482066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:153482066G>A	ENST00000288670.9	+	16	2319	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q	FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000475377.2_Missense_Mutation_p.R26Q	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	651	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	p.R651Q(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GATGATGAGCGAATTCTGGAG	0.438000													26	36					0	0	0.001512	0	0
NMUR2	56923	broad.mit.edu	37	5	151777638	151777638	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:151777638G>A	ENST00000255262.3	-	2	959	c.794C>T	c.(793-795)tCa>tTa	p.S265L	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	265					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTTGTTGACTGATTTTCTGCA	0.393000													22	9					0	0	0.002299	0	0
COL18A1	80781	broad.mit.edu	37	21	46927500	46927500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46927500G>A	ENST00000359759.4	+	37	4508	c.4487G>A	c.(4486-4488)cGa>cAa	p.R1496Q	COL18A1_ENST00000355480.5_Missense_Mutation_p.R1261Q|COL18A1_ENST00000400337.2_Missense_Mutation_p.R1081Q|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1496	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCACTCCCACGAGGGACGGTA	0.622000													4	7					0	0	0.000602	0	0
MME	4311	broad.mit.edu	37	3	154886527	154886527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:154886527G>A	ENST00000460393.1	+	20	2041	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	MME_ENST00000492661.1_Missense_Mutation_p.G641R|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.G641R|MME_ENST00000360490.2_Missense_Mutation_p.G641R|MME_ENST00000493237.1_Missense_Mutation_p.G641R	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	641					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ACAGCTTAATGGAATTAATAC	0.299000													27	34					0	0	0.001061	0	0
ABCC9	10060	broad.mit.edu	37	12	21998764	21998764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21998764C>T	ENST00000261200.4	-	24	2868	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	ABCC9_ENST00000261201.4_Missense_Mutation_p.E957K|ABCC9_ENST00000345162.2_Missense_Mutation_p.E921K|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	957					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCCTCTTCTTCCTCTACATAC	0.388000													13	31					0	0	0.001368	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167428	140167428	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:140167428G>A	ENST00000458420.3	+	6	1045	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	285					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						GCATCCACCTGGAGACGTGCG	0.527000										HNSCC(16;0.037)			50	67					0	0	0.003610	0	0
PAPPA	5069	broad.mit.edu	37	9	118950101	118950101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:118950101G>A	ENST00000328252.3	+	2	1453	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	362	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CAACCTCTATGAAGATGATCA	0.542000													21	6					0	0	0.001882	0	0
SCN10A	6336	broad.mit.edu	37	3	38738959	38738959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38738959G>A	ENST00000449082.2	-	27	5751	c.5752C>T	c.(5752-5754)Cca>Tca	p.P1918S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1918					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TAGGACGGTGGGAATGATGTG	0.448000													35	75					0	0	0.002222	0	0
MORC1	27136	broad.mit.edu	37	3	108751625	108751625	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108751625C>T	ENST00000232603.5	-	16	1589	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	MORC1_ENST00000483760.1_Missense_Mutation_p.E503K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	503					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCTTTTTCCTGATAATTA	0.289000													31	45					0	0	0.004878	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946493	16946493	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:16946493G>A	ENST00000412962.1	-	0	1026																											GGGCCCGCTCGGCCTCCAGCT	0.677000													4	10					0	0	0.000248	0	0
NEB	4703	broad.mit.edu	37	2	152500515	152500515	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152500515C>T	ENST00000397345.3	-	57	7975	c.7773G>A	c.(7771-7773)aaG>aaA	p.K2591K	NEB_ENST00000604864.1_Silent_p.K2591K|NEB_ENST00000603639.1_Silent_p.K2591K|NEB_ENST00000172853.10_Silent_p.K2591K|NEB_ENST00000427231.2_Silent_p.K2591K|NEB_ENST00000409198.1_Silent_p.K2591K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2591					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTCAAAGTCCTTCTTGTACT	0.542000													104	139					0	0	0.003610	0	0
ITPR3	3710	broad.mit.edu	37	6	33652691	33652691	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33652691C>T	ENST00000374316.5	+	40	6338	c.5278C>T	c.(5278-5280)Ctg>Ttg	p.L1760L	ITPR3_ENST00000605930.1_Silent_p.L1760L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1760					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGCCATCCACCTGCTGGATGG	0.617000													20	20					0	0	0.002299	0	0
POLN	353497	broad.mit.edu	37	4	2160913	2160913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:2160913G>A	ENST00000511885.2	-	14	1933	c.1580C>T	c.(1579-1581)cCa>cTa	p.P527L	POLN_ENST00000382865.1_Missense_Mutation_p.P527L|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	527					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CTTGGGTAATGGATGAAGGTC	0.358000								DNA polymerases (catalytic subunits)					25	52					0	0	0.004289	0	0
GRIA4	2893	broad.mit.edu	37	11	105775926	105775926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:105775926C>T	ENST00000393127.2	+	9	1503	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	GRIA4_ENST00000530497.1_Nonsense_Mutation_p.R353*|GRIA4_ENST00000393125.2_Nonsense_Mutation_p.R353*|GRIA4_ENST00000282499.5_Nonsense_Mutation_p.R353*|GRIA4_ENST00000428631.2_Nonsense_Mutation_p.R353*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.R353*	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	353					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CACTTAGGTTCGAATTCAAGG	0.378000													26	50					0	0	0.001271	0	0
MFF	56947	broad.mit.edu	37	2	228205011	228205011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228205011C>T	ENST00000353339.3	+	6	874	c.433C>T	c.(433-435)Cga>Tga	p.R145*	MFF_ENST00000392059.1_Nonsense_Mutation_p.R145*|MFF_ENST00000337110.7_Nonsense_Mutation_p.R119*|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000409616.1_Nonsense_Mutation_p.R119*|MFF_ENST00000409565.1_Nonsense_Mutation_p.R119*|MFF_ENST00000354503.6_Nonsense_Mutation_p.R119*|MFF_ENST00000304593.9_Nonsense_Mutation_p.R119*|MFF_ENST00000349901.7_Nonsense_Mutation_p.R119*|MFF_ENST00000476924.1_3'UTR	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	145						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TTAACAGATCCGAGCAGTTGG	0.423000													14	34					0	0	0.001855	0	0
OR52J3	119679	broad.mit.edu	37	11	5067961	5067961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5067961C>T	ENST00000380370.1	+	1	206	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCATTCTTTCCACTATTGAT	0.498000													15	27					0	0	0.004007	0	0
CALCRL	10203	broad.mit.edu	37	2	188216896	188216896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:188216896C>T	ENST00000409998.1	-	14	1854	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	CALCRL_ENST00000410068.1_Missense_Mutation_p.G358E|CALCRL_ENST00000392370.3_Missense_Mutation_p.G358E|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	358						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGCAATCTTTCCTTCAGGTCG	0.433000													26	30					0	0	0.003954	0	0
TP73	7161	broad.mit.edu	37	1	3638758	3638758	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:3638758G>A	ENST00000378295.4	+	5	758	c.603G>A	c.(601-603)agG>agA	p.R201R	TP73_ENST00000357733.3_Silent_p.R201R|TP73_ENST00000604479.1_Silent_p.R201R|TP73_ENST00000604074.1_Silent_p.R201R|TP73_ENST00000378288.4_Silent_p.R152R|TP73_ENST00000378290.4_Silent_p.R130R|TP73_ENST00000603362.1_Silent_p.R201R|TP73_ENST00000378285.1_Silent_p.R152R|TP73_ENST00000354437.4_Silent_p.R201R|TP73_ENST00000346387.4_Silent_p.R201R|TP73_ENST00000378280.1_Silent_p.R152R	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	201	DNA-binding (Potential).				cellular response to UV|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|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AGCTCGGGAGGGACTTCAACG	0.662000													5	20					0	0	0.001168	0	0
ZFR2	23217	broad.mit.edu	37	19	3834946	3834946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3834946C>T	ENST00000262961.4	-	2	99	c.89G>A	c.(88-90)gGg>gAg	p.G30E	ZFR2_ENST00000591965.1_5'UTR	NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	30						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ATAGCTGGCCCCCACAGTGGG	0.637000													5	10					0	0	0.001168	0	0
DAW1	164781	broad.mit.edu	37	2	228771902	228771902	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228771902G>A	ENST00000373666.2	+	10	1543	c.907G>A	c.(907-909)Gat>Aat	p.D303N	DAW1_ENST00000309931.2_Missense_Mutation_p.D303N|DAW1_ENST00000545118.1_Missense_Mutation_p.D288N					dynein assembly factor with WDR repeat domains 1																		AACAGGCCATGATGATGAAAT	0.358000													16	21					0	0	0.004990	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126223	121126223	+	Silent	SNP	G	G	A	rs145354820		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:121126223G>A	ENST00000273666.6	+	24	3064	c.2793G>A	c.(2791-2793)agG>agA	p.R931R	STXBP5L_ENST00000497029.1_Silent_p.R905R|STXBP5L_ENST00000472879.1_Silent_p.R907R|STXBP5L_ENST00000492541.1_Silent_p.R931R|STXBP5L_ENST00000471454.1_Silent_p.R907R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	931					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.R931R(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTTGGAGAAGGAAAGTGGTAA	0.398000													19	36					0	0	0.000958	0	0
SLIT3	6586	broad.mit.edu	37	5	168201309	168201309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:168201309G>A	ENST00000519560.1	-	13	1645	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	SLIT3_ENST00000404867.3_Missense_Mutation_p.S409F|SLIT3_ENST00000332966.8_Missense_Mutation_p.S409F	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	409					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATACAGGGAGAGCAAGTT	0.557000													62	30					0	0	0.003610	0	0
MYT1	4661	broad.mit.edu	37	20	62839344	62839344	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62839344G>A	ENST00000536311.1	+	7	1159	c.795G>A	c.(793-795)gaG>gaA	p.E265E	MYT1_ENST00000328439.1_Silent_p.E265E|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	265	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaggaggaag	0.587000													15	9					0	0	0.003163	0	0
FAT4	79633	broad.mit.edu	37	4	126401004	126401004	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126401004G>A	ENST00000394329.3	+	14	12595	c.12582G>A	c.(12580-12582)ggG>ggA	p.G4194G	FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4194	EGF-like 5.				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						GACTCACTGGGAAATACTGTG	0.423000													11	25					0	0	0.000978	0	0
C1orf173	127254	broad.mit.edu	37	1	75038101	75038101	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:75038101A>T	ENST00000326665.5	-	14	3511	c.3293T>A	c.(3292-3294)cTt>cAt	p.L1098H	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1098	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						TTCCGCTTTAAGTTTTTGCTC	0.443000													65	90					0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61894112	61894112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61894112C>T	ENST00000280772.1	-	25	2949	c.2758G>A	c.(2758-2760)Gat>Aat	p.D920N	ANK3_ENST00000373827.2_Missense_Mutation_p.D914N|ANK3_ENST00000503366.1_Missense_Mutation_p.D921N|ANK3_ENST00000355288.2_Missense_Mutation_p.D54N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	920					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAAGACCTATCCGAACTGAAG	0.398000													14	19					0	0	0.003163	0	0
ZNF90	7643	broad.mit.edu	37	19	20216029	20216029	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:20216029G>A	ENST00000418063.2	+	3	242		c.e3-1		ZNF90_ENST00000474284.1_Splice_Site	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90							Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TAATAAAACAGGTATTGTTGT	0.378000													8	27					0	0	0.004482	0	0
NUP153	9972	broad.mit.edu	37	6	17648081	17648081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:17648081G>A	ENST00000262077.2	-	13	1588	c.1589C>T	c.(1588-1590)cCa>cTa	p.P530L	NUP153_ENST00000537253.1_Missense_Mutation_p.P561L	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	530					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTTTACGATTGGAGATGAAAA	0.338000													26	69					0	0	0.001786	0	0
UNC13A	23025	broad.mit.edu	37	19	17756525	17756525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17756525C>T	ENST00000428389.2	-	20	2577	c.2578G>A	c.(2578-2580)Gtg>Atg	p.V860M	UNC13A_ENST00000519716.2_Missense_Mutation_p.V772M|UNC13A_ENST00000551649.1_Missense_Mutation_p.V772M|UNC13A_ENST00000552293.1_Missense_Mutation_p.V772M|UNC13A_ENST00000252773.7_Missense_Mutation_p.V772M|UNC13A_ENST00000550896.1_Missense_Mutation_p.V770M			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	772					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						AGCGTCCGCACCTCAATGATC	0.597000													4	16					0	0	0.001168	0	0
WASF3	10810	broad.mit.edu	37	13	27259953	27259953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:27259953G>A	ENST00000361042.4	+	10	1696	c.1471G>A	c.(1471-1473)Gag>Aag	p.E491K	WASF3_ENST00000335327.5_Missense_Mutation_p.E494K			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	494					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGACGACTCAGAGTTCGACGA	0.607000													19	4					0	0	0.001882	0	0
CD247	919	broad.mit.edu	37	1	167409913	167409913	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:167409913G>A	ENST00000392122.3	-	2	294	c.150C>T	c.(148-150)ttC>ttT	p.F50F	CD247_ENST00000483825.1_5'UTR|CD247_ENST00000362089.5_Silent_p.F50F	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	50					interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TCACTCTCAGGAACAAGGCAG	0.557000													23	18					0	0	0.001512	0	0
TRANK1	9881	broad.mit.edu	37	3	36884166	36884166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36884166G>A	ENST00000429976.2	-	17	5342	c.5095C>T	c.(5095-5097)Cct>Tct	p.P1699S	TRANK1_ENST00000301807.6_Missense_Mutation_p.P1149S|TRANK1_ENST00000428977.2_Missense_Mutation_p.P1149S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1699					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACTCCGCAGGAGTTGAGGTC	0.468000													14	23					0	0	0.001855	0	0
SYNE1	23345	broad.mit.edu	37	6	152718116	152718116	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152718116C>T	ENST00000367255.5	-	50	7952		c.e50-1		SYNE1_ENST00000341594.5_Silent_p.Q2489Q|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						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)		CCAAAATGTTCTGTTTCAGGA	0.383000										HNSCC(10;0.0054)			27	34					0	0	0.001512	0	0
BCAT1	586	broad.mit.edu	37	12	24985736	24985736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:24985736C>T	ENST00000261192.7	-	9	1491	c.965G>A	c.(964-966)gGg>gAg	p.G322E	BCAT1_ENST00000539282.1_Missense_Mutation_p.G334E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G321E|RP11-625L16.3_ENST00000545410.1_RNA|BCAT1_ENST00000539780.1_Missense_Mutation_p.G285E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G261E	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	322					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CACTCTGTTCCCCTCCAGGGC	0.423000													11	6					0	0	0.000978	0	0
EPHA3	2042	broad.mit.edu	37	3	89391080	89391080	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:89391080C>T	ENST00000336596.2	+	5	1371	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	EPHA3_ENST00000452448.2_Silent_p.F382F|EPHA3_ENST00000494014.1_Silent_p.F382F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	382	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGTCCGCTTCCTCCCTCGAC	0.473000										TSP Lung(6;0.00050)			23	23					0	0	0.003330	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761354	92761354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92761354C>T	ENST00000318238.4	-	5	5147	c.3931G>A	c.(3931-3933)Gat>Aat	p.D1311N	SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1311N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1311N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1311										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGACATGGATCCAAATGACAG	0.378000													131	9					0	0	0.003610	0	0
PRB2	653247	broad.mit.edu	37	12	11546698	11546698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:11546698C>T	ENST00000389362.4	-	3	349	c.314G>A	c.(313-315)gGa>gAa	p.G105E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGACTTGTCTCCTTGTGGGGG	0.607000													92	231					0	0	0.003610	0	0
PEMT	10400	broad.mit.edu	37	17	17480299	17480299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:17480299G>A	ENST00000395781.2	-	2	220	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	PEMT_ENST00000255389.5_Missense_Mutation_p.P47S|PEMT_ENST00000435340.2_Missense_Mutation_p.P25S|PEMT_ENST00000395782.1_Missense_Mutation_p.P10S|PEMT_ENST00000395783.1_Missense_Mutation_p.P10S	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	10					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GGATCCAGGGGGTCCACGTAG	0.597000													33	5					0	0	0.001287	0	0
HTR3E	285242	broad.mit.edu	37	3	183824092	183824092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:183824092G>A	ENST00000415389.2	+	8	1568	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	HTR3E_ENST00000425359.2_Missense_Mutation_p.E353K|HTR3E_ENST00000335304.2_Missense_Mutation_p.E383K|HTR3E_ENST00000436361.2_Missense_Mutation_p.E368K|HTR3E_ENST00000440596.2_Missense_Mutation_p.E394K	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	368						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCCAGAAGGAAAATAAGGG	0.667000													5	8					0	0	0.000602	0	0
TACC2	10579	broad.mit.edu	37	10	123970390	123970390	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123970390G>A	ENST00000369005.1	+	9	6790	c.6450G>A	c.(6448-6450)gtG>gtA	p.V2150V	TACC2_ENST00000360561.3_Silent_p.V228V|TACC2_ENST00000515603.1_Silent_p.V2105V|TACC2_ENST00000368999.1_Silent_p.V228V|TACC2_ENST00000453444.2_Silent_p.V2154V|TACC2_ENST00000334433.3_Silent_p.V2150V|TACC2_ENST00000260733.3_Silent_p.V228V|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000513429.1_Silent_p.V296V|TACC2_ENST00000515273.1_Silent_p.V2154V|TACC2_ENST00000369004.3_Silent_p.V228V|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Silent_p.V296V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2150						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCCCCCAGTGAAGGAGACGC	0.517000													38	64					0	0	0.001706	0	0
DIRC1	116093	broad.mit.edu	37	2	189599368	189599368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:189599368C>T	ENST00000308100.4	-	2	550	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	94										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			ATTTTCCACCCCCTCAATGAG	0.383000													40	60					0	0	0.002522	0	0
ZNF215	7762	broad.mit.edu	37	11	6953622	6953622	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6953622A>T	ENST00000278319.5	+	3	707	c.119A>T	c.(118-120)gAg>gTg	p.E40V	ZNF215_ENST00000529903.1_Missense_Mutation_p.E40V|ZNF215_ENST00000414517.2_Missense_Mutation_p.E40V|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	40					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CCCGTCGTGGAGACACATGAC	0.493000													32	64					0	0	0.001485	0	0
AGAP5	729092	broad.mit.edu	37	10	75435613	75435613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:75435613G>A	ENST00000443782.2	-	7	861	c.736C>T	c.(736-738)Ccg>Tcg	p.P246S	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.P269S			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	269					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TGATTCTCCGGGGCTTTCCTC	0.537000													45	63					0	0	0.003610	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350237	51350237	+	Silent	SNP	G	G	A	rs138297422	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:51350237G>A	ENST00000327536.5	-	3	819	c.720C>T	c.(718-720)caC>caT	p.H240H	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	240										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TGGGCGTCAGGTGCCGCTGCA	0.547000													15	22					0	0	0.003163	0	0
KCNB2	9312	broad.mit.edu	37	8	73850006	73850006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:73850006G>A	ENST00000523207.1	+	3	3004	c.2416G>A	c.(2416-2418)Gaa>Aaa	p.E806K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	806					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGCTTCACTGAAATAGATAC	0.527000													14	43					0	0	0.002450	0	0
ADCY8	114	broad.mit.edu	37	8	131916126	131916126	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:131916126G>A	ENST00000286355.5	-	7	3895	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	ADCY8_ENST00000377928.3_Silent_p.I601I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	601					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			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)			ACTCCTTGACGATATCTTCAG	0.483000										HNSCC(32;0.087)			57	34					0	0	0.003610	0	0
FTCD	10841	broad.mit.edu	37	21	47570152	47570152	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:47570152G>A	ENST00000397748.1	-	7	830	c.787C>T	c.(787-789)Cca>Tca	p.P263S	FTCD_ENST00000291670.5_Missense_Mutation_p.P263S|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Missense_Mutation_p.P263S|FTCD_ENST00000397743.1_Missense_Mutation_p.P263S|FTCD_ENST00000359679.2_Missense_Mutation_p.P263S|FTCD_ENST00000355384.2_Missense_Mutation_p.P263S			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	263	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCCACCACTGGGAGGCTCAGC	0.682000													6	13					0	0	0.003080	0	0
C5orf38	153571	broad.mit.edu	37	5	2752787	2752787	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:2752787C>T	ENST00000515640.1	+	2	271	c.252C>T	c.(250-252)ctC>ctT	p.L84L	C5orf38_ENST00000397835.4_Silent_p.L84L|C5orf38_ENST00000505778.1_Silent_p.L84L|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000334000.3_Silent_p.L84L|C5orf38_ENST00000457752.2_Intron			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	84						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		CAAACCGCCTCTGGCAGGACC	0.512000													9	83					0	0	0.000443	0	0
TGIF2LY	90655	broad.mit.edu	37	Y	3447612	3447612	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrY:3447612C>T	ENST00000559055.2	+	1	457	c.327C>T	c.(325-327)ctC>ctT	p.L109L	TGIF2LY_ENST00000321217.4_Silent_p.L109L			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	109						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						GACGCATTCTCCCGGATATGC	0.507000													43	10					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176659413	176659413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176659413G>A	ENST00000367662.3	+	5	3442	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E760K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	760					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						CCCCTGCAAGGAGACAGTGCC	0.557000													60	66					0	0	0.003610	0	0
MAGI3	260425	broad.mit.edu	37	1	114184754	114184754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:114184754C>T	ENST00000369615.1	+	10	1644	c.1582C>T	c.(1582-1584)Cct>Tct	p.P528S	MAGI3_ENST00000369611.4_Missense_Mutation_p.P528S|MAGI3_ENST00000369617.4_Missense_Mutation_p.P553S|MAGI3_ENST00000307546.9_Missense_Mutation_p.P528S	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	553					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCATGAATCCTCAGGATTT	0.468000													83	72					0	0	0.003610	0	0
SSPO	23145	broad.mit.edu	37	7	149492370	149492370	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:149492370G>A	ENST00000378016.2	+	0	6259							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)			CCAGCAGCTGGAACACCCCAC	0.667000													22	19					0	0	0.004656	0	0
SLC9A2	6549	broad.mit.edu	37	2	103281714	103281714	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103281714C>T	ENST00000233969.2	+	3	1051	c.909C>T	c.(907-909)acC>acT	p.T303T		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	303						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTCGATTCACCCATAATATCC	0.453000													36	45					0	0	0.003755	0	0
MYH7B	57644	broad.mit.edu	37	20	33586701	33586701	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33586701G>A	ENST00000262873.7	+	33	4391	c.4299G>A	c.(4297-4299)gaG>gaA	p.E1433E		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1391						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGAGGACCGAGGAGCTGGAGG	0.637000													24	8					0	0	0.002299	0	0
FOXA3	3171	broad.mit.edu	37	19	46375805	46375805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:46375805C>T	ENST00000302177.2	+	2	739	c.542C>T	c.(541-543)tCc>tTc	p.S181F		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	181					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		GTGGCGCGTTCCCCAGACAAG	0.582000													12	25					0	0	0.004007	0	0
HERC2	8924	broad.mit.edu	37	15	28491994	28491994	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:28491994G>A	ENST00000261609.7	-	22	3393	c.3285C>T	c.(3283-3285)ctC>ctT	p.L1095L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1095					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)		GCGTGCACAGGAGGGCTGTGT	0.483000													22	38					0	0	0.004656	0	0
CSF1	1435	broad.mit.edu	37	1	110466437	110466437	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:110466437G>A	ENST00000329608.6	+	6	1585	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Silent_p.P398P|CSF1_ENST00000344188.5_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	398					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	p.P398P(1)		breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGACCCCCCGGAGCCAGGCT	0.667000													11	16					0	0	0.000673	0	0
CD33	945	broad.mit.edu	37	19	51729189	51729189	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51729189C>T	ENST00000436584.2	+	2	223	c.168C>T	c.(166-168)gcC>gcT	p.A56A	CD33_ENST00000391796.3_Silent_p.A183A|CD33_ENST00000421133.2_Silent_p.A56A|CD33_ENST00000262262.4_Silent_p.A183A			P20138	CD33_HUMAN	CD33 molecule	183	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TGTCAGCTGCCCCCACCTCCC	0.622000													22	39					0	0	0.003330	0	0
WDR59	79726	broad.mit.edu	37	16	74908231	74908231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:74908231G>A	ENST00000262144.6	-	26	2931	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	934										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GAAATTGGACGATCCCCGCAC	0.622000													9	14					0	0	0.000673	0	0
TIGD3	220359	broad.mit.edu	37	11	65124164	65124164	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:65124164C>T	ENST00000309880.5	+	2	1092	c.885C>T	c.(883-885)ccC>ccT	p.P295P		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	295	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CCACGCCTCCCCTGCCCAGCT	0.652000													19	33					0	0	0.002299	0	0
NLRP10	338322	broad.mit.edu	37	11	7981729	7981729	+	Missense_Mutation	SNP	G	G	A	rs77351963		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7981729G>A	ENST00000328600.2	-	2	1591	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	477	NACHT.						ATP binding	p.S477C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCAGGTAAGACATGGCATG	0.517000													34	44					0	0	0.003755	0	0
GORAB	92344	broad.mit.edu	37	1	170511645	170511645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:170511645C>T	ENST00000367763.3	+	3	528	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	GORAB_ENST00000367762.1_Missense_Mutation_p.R170C	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	170						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AGAAAAATCTCGTTGGGAAGT	0.403000													60	61					0	0	0.003610	0	0
RYR1	6261	broad.mit.edu	37	19	39025971	39025971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39025971C>T	ENST00000355481.4	+	80	11571	c.11440C>T	c.(11440-11442)Ctt>Ttt	p.L3814F	RYR1_ENST00000359596.3_Missense_Mutation_p.L3819F|RYR1_ENST00000360985.3_Missense_Mutation_p.L3819F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3819					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGATTATCTTAAGGACAA	0.498000													33	30					0	0	0.005524	0	0
IL18RAP	8807	broad.mit.edu	37	2	103039762	103039762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103039762C>T	ENST00000264260.2	+	3	614	c.25C>T	c.(25-27)Ctt>Ttt	p.L9F	IL18RAP_ENST00000409369.1_5'UTR	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	9					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CTGGATATTTCTTTGGCTTGT	0.408000													54	77					0	0	0.003610	0	0
C5AR2	27202	broad.mit.edu	37	19	47844952	47844952	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:47844952T>A	ENST00000595464.1	+	2	1114	c.896T>A	c.(895-897)cTc>cAc	p.L299H	C5AR2_ENST00000600626.1_Missense_Mutation_p.L299H|C5AR2_ENST00000257267.2_Missense_Mutation_p.L299H	NM_001271749.1	NP_001258678.1			complement component 5a receptor 2																		AGGGCTCAACTCCGCCGGTCA	0.632000													21	31					0	0	0.003330	0	0
CAPS2	84698	broad.mit.edu	37	12	75672823	75672823	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:75672823G>A	ENST00000393284.3	-	17	1597	c.996C>T	c.(994-996)atC>atT	p.I332I	RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000409004.1_Intron|CAPS2_ENST00000442339.2_Silent_p.I154I|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409445.3_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	0							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AGGATGATTTGATTTCTTCCT	0.328000													42	63					0	0	0.003214	0	0
SCN9A	6335	broad.mit.edu	37	2	167129007	167129007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167129007G>A	ENST00000303354.6	-	17	3596	c.3256C>T	c.(3256-3258)Ctc>Ttc	p.L1086F	SCN9A_ENST00000375387.4_Missense_Mutation_p.L1086F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.L1074F|SCN9A_ENST00000409435.1_Missense_Mutation_p.L1085F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1085						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GTCACTGTGAGGCTGGGATTG	0.423000													17	28					0	0	0.004007	0	0
DMBX1	127343	broad.mit.edu	37	1	46976938	46976938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:46976938G>A	ENST00000371956.4	+	3	695	c.680G>A	c.(679-681)aGg>aAg	p.R227K	DMBX1_ENST00000360032.3_Missense_Mutation_p.R222K	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	227				R -> K (in Ref. 2; BAC00920).	brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GGCTGCAAGAGGGGCAGCCCC	0.657000													5	6					0	0	0.001984	0	0
UGT1A9	54600	broad.mit.edu	37	2	234580735	234580735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:234580735G>A	ENST00000354728.4	+	1	237	c.155G>A	c.(154-156)gGg>gAg	p.G52E	UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		ATTCTCAGGGGGCATGAGGTG	0.522000													28	36					0	0	0.001786	0	0
ASXL1	171023	broad.mit.edu	37	20	31016187	31016187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:31016187C>T	ENST00000375687.4	+	6	857	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	ASXL1_ENST00000542461.1_3'UTR|ASXL1_ENST00000306058.5_Missense_Mutation_p.L140F|ASXL1_ENST00000470145.1_3'UTR	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	145					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAGTCGACCTCTTTCCAATCC	0.478000			"""F, N, Mis"""		"""MDS, CMML"""								112	61					0	0	0.003610	0	0
COL11A1	1301	broad.mit.edu	37	1	103467519	103467519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:103467519G>A	ENST00000358392.2	-	24	2457	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S	COL11A1_ENST00000353414.4_Missense_Mutation_p.P663S|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.P586S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P702S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	702	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)		TGTGGACCAGGAAGACCCTAT	0.348000													32	37					0	0	0.005524	0	0
TAAR2	9287	broad.mit.edu	37	6	132939236	132939236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:132939236C>T	ENST00000367931.1	-	2	108	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	TAAR2_ENST00000275191.2_5'UTR|TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	37						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AGAGATCTTTCATTTTCTGGG	0.328000													26	43					0	0	0.001061	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904846	73904846	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:73904846C>T	ENST00000342056.2	+	15	2963	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	KCNQ5_ENST00000403813.2_Silent_p.I827I|KCNQ5_ENST00000355635.3_Silent_p.I837I|KCNQ5_ENST00000355194.4_Silent_p.I836I|KCNQ5_ENST00000414165.2_Silent_p.I726I|KCNQ5_ENST00000402622.2_Silent_p.I846I|KCNQ5_ENST00000370398.1_Silent_p.I836I	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	836					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AAAACCTGATCAGGTCGACCG	0.473000													15	29					0	0	0.006122	0	0
KCNH7	90134	broad.mit.edu	37	2	163374315	163374315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:163374315C>T	ENST00000332142.5	-	4	916	c.817G>A	c.(817-819)Gca>Aca	p.A273T	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.A273T	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	273					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACCGAAGATGCTCTCCGTATA	0.463000													27	41					0	0	0.001786	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307132	39307132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:39307132G>A	ENST00000541347.1	-	2	1108	c.869C>T	c.(868-870)cCt>cTt	p.P290L	CX3CR1_ENST00000358309.3_Missense_Mutation_p.P322L|CX3CR1_ENST00000399220.2_Missense_Mutation_p.P290L|CX3CR1_ENST00000542107.1_Missense_Mutation_p.P290L	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	290					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		ATAGATGAGAGGATTCAGGCA	0.498000													39	62					0	0	0.001287	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764416	109764416	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:109764416C>T	ENST00000602699.1	+	0	877					NR_002718.2																						ATGGCCATTTCTAAAGCCTTT	0.502000													18	9					0	0	0.004990	0	0
BRD9	65980	broad.mit.edu	37	5	865593	865593	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:865593G>A	ENST00000323510.4	-	12	1340	c.1341C>T	c.(1339-1341)ggC>ggT	p.G447G	BRD9_ENST00000483173.1_Silent_p.G490G|BRD9_ENST00000467963.1_Silent_p.G543G|BRD9_ENST00000388890.4_Silent_p.G427G			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	543							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACGGCCGAGAGCCGCCGCGCT	0.647000													37	53					0	0	0.001287	0	0
OVOS2	144203	broad.mit.edu	37	12	31267694	31267694	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:31267694G>A	ENST00000542490.1	-	0	757																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CTAAACTACGGCTAAACAAGT	0.333000													25	66					0	0	0.001271	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999814	46999814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:46999814G>A	ENST00000374314.4	+	1	1889	c.934G>A	c.(934-936)Gat>Aat	p.D312N	GPRIN2_ENST00000374317.1_Missense_Mutation_p.D312N			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	312										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TAGGACCAAAGATGTGTGGAC	0.642000													7	67					0	0	0.003080	0	0
UCP3	7352	broad.mit.edu	37	11	73716890	73716890	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:73716890G>A	ENST00000314032.4	-	4	978	c.426C>T	c.(424-426)gtC>gtT	p.V142V	UCP3_ENST00000348534.4_Intron|UCP3_ENST00000426995.2_Silent_p.V142V	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	142					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CCTGAAATCGGACCTTCACCA	0.607000													10	27					0	0	0.000673	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902757	4902757	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4902757C>T	ENST00000381781.2	-	1	122	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	41					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GGGTTAAGATCACCTGCCCTT	0.562000													28	55					0	0	0.001061	0	0
CCDC88C	440193	broad.mit.edu	37	14	91806251	91806251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:91806251C>T	ENST00000389857.6	-	7	687	c.601G>A	c.(601-603)Gac>Aac	p.D201N		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	201					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCCCGCTGGTCGATGAGCCTC	0.667000													7	2					0	0	0.001984	0	0
IGSF10	285313	broad.mit.edu	37	3	151164382	151164382	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151164382G>A	ENST00000282466.3	-	4	3386	c.3387C>T	c.(3385-3387)ttC>ttT	p.F1129F		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1129					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTCAGTCCTGAAATATTTTA	0.413000													55	86					0	0	0.003610	0	0
COL25A1	84570	broad.mit.edu	37	4	109782121	109782121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:109782121G>A	ENST00000399132.1	-	23	1734	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C	COL25A1_ENST00000399126.1_Missense_Mutation_p.R402C|COL25A1_ENST00000399127.1_Missense_Mutation_p.R383C	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	402	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTTTCTCCACGATCCCCCTTT	0.438000													23	26					0	0	0.001061	0	0
CD22	933	broad.mit.edu	37	19	35832744	35832744	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:35832744C>T	ENST00000085219.5	+	9	1977	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	CD22_ENST00000341773.6_Silent_p.L460L|CD22_ENST00000594250.1_Silent_p.L460L|CD22_ENST00000544992.2_Silent_p.L637L|CD22_ENST00000536635.2_Silent_p.L549L|CD22_ENST00000419549.2_Silent_p.L465L|CD22_ENST00000270311.6_Silent_p.L517L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	637	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	ACCAAAGCCTCCCCTACCACA	0.602000													13	22					0	0	0.001855	0	0
ZNF516	9658	broad.mit.edu	37	18	74091181	74091181	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:74091181G>A	ENST00000443185.2	-	4	3206	c.2889C>T	c.(2887-2889)gcC>gcT	p.A963A	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TATTTGTGGGGGCAAAGCCAG	0.662000													19	26					0	0	0.003330	0	0
KISS1R	84634	broad.mit.edu	37	19	917677	917677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:917677G>A	ENST00000234371.5	+	1	328	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	KISS1R_ENST00000606939.1_Missense_Mutation_p.G59R	NM_032551.4	NP_115940.2	Q969F8	KISSR_HUMAN	KISS1 receptor	59					behavior	integral to membrane|plasma membrane	neuropeptide receptor activity|protein binding			cervix(1)|kidney(1)|ovary(1)|pancreas(1)|skin(1)	5		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)		GGGCCTGGTGGGGAACTCGCT	0.692000													6	6					0	0	0.001984	0	0
MYO18B	84700	broad.mit.edu	37	22	26181423	26181423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26181423G>A	ENST00000335473.7	+	11	2591	c.2341G>A	c.(2341-2343)Gat>Aat	p.D781N	MYO18B_ENST00000536101.1_Missense_Mutation_p.D781N|MYO18B_ENST00000407587.2_Missense_Mutation_p.D781N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	781	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCAGATGGCAGATAGCAGCTC	0.617000													3	6					0	0	0.000248	0	0
CCDC138	165055	broad.mit.edu	37	2	109404498	109404498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:109404498C>T	ENST00000295124.4	+	2	164	c.104C>T	c.(103-105)tCa>tTa	p.S35L	CCDC138_ENST00000412964.2_Missense_Mutation_p.S35L|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	35										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TATGATTTTTCAAATTTTTAT	0.269000													12	21					0	0	0.001368	0	0
PKD1	5310	broad.mit.edu	37	16	2159811	2159811	+	Missense_Mutation	SNP	G	G	A	rs151176070		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2159811G>A	ENST00000262304.4	-	15	5565	c.5357C>T	c.(5356-5358)cCg>cTg	p.P1786L	PKD1_ENST00000423118.1_Missense_Mutation_p.P1786L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1786	PKD 13.		P -> L (rare polymorphism).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGAGCCCAGCGGGTTCCCTGC	0.662000													11	17					0	0	0.001368	0	0
SV2B	9899	broad.mit.edu	37	15	91810784	91810784	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:91810784G>A	ENST00000394232.1	+	8	1589		c.e8-1		SV2B_ENST00000545111.2_Splice_Site|SV2B_ENST00000330276.4_Splice_Site	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B						neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATGGGTTGTAGGTCTGGGATA	0.443000													142	203					0	0	0.003610	0	0
C6orf222	389384	broad.mit.edu	37	6	36288992	36288992	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:36288992C>T	ENST00000437635.2	-	10	1785	c.1608G>A	c.(1606-1608)gaG>gaA	p.E536E		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	536										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGATGATGATCTCCTCTAAGG	0.527000													4	0					0	0	0.001168	0	0
OVCH2	341277	broad.mit.edu	37	11	7721935	7721935	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7721935C>T	ENST00000454689.1	-	0	808				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CACATTGTTTCTCCAGCCTCG	0.507000													12	9					0	0	0.000978	0	0
ITGB1BP1	9270	broad.mit.edu	37	2	9554384	9554384	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:9554384G>A	ENST00000360635.3	-	4	970	c.72_splice	c.e4-1	p.S25_splice	ITGB1BP1_ENST00000238091.4_Splice_Site_p.S25_splice|ITGB1BP1_ENST00000456913.2_Splice_Site_p.S25_splice|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000359712.3_Splice_Site_p.S25_splice|ITGB1BP1_ENST00000355346.4_Splice_Site_p.S25_splice|ITGB1BP1_ENST00000488451.1_Splice_Site_p.S25_splice			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	25	Ser/Thr-rich.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		AGAATCCACAGACTGAGAAAC	0.448000													25	48					0	0	0.002780	0	0
CLPTM1	1209	broad.mit.edu	37	19	45493792	45493792	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45493792C>T	ENST00000541297.2	+	10	1695	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	CLPTM1_ENST00000337392.5_Silent_p.F424F|CLPTM1_ENST00000546079.1_Silent_p.F322F			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	424					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCAGCGTCTTCATTGGGGTCC	0.597000													136	183					0	0	0.003610	0	0
TECPR2	9895	broad.mit.edu	37	14	102964022	102964022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:102964022G>A	ENST00000359520.7	+	19	4273	c.4047G>A	c.(4045-4047)tgG>tgA	p.W1349*		NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	1349							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						GGGACTACTGGAAGAAAATTC	0.662000													10	1					0	0	0.001368	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516539	118516539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:118516539C>T	ENST00000361417.2	+	18	3914	c.3503C>T	c.(3502-3504)tCg>tTg	p.S1168L	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S1121L|PHLDB1_ENST00000524713.1_Missense_Mutation_p.S311L|PHLDB1_ENST00000527898.1_Missense_Mutation_p.S219L|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1168										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTCATGGAGTCGAGGGTGAGT	0.592000													17	25					0	0	0.004990	0	0
SSX7	280658	broad.mit.edu	37	X	52677369	52677369	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:52677369C>T	ENST00000298181.5	-	6	566	c.408G>A	c.(406-408)ggG>ggA	p.G136G		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ACAGGTGTTTCCCATCGTTCT	0.483000													77	18					0	0	0.003610	0	0
OR52K2	119774	broad.mit.edu	37	11	4470716	4470716	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4470716C>T	ENST00000325719.4	+	1	192	c.147C>T	c.(145-147)ctC>ctT	p.L49L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCTCCTTCTCATCATCCAGG	0.542000													34	66					0	0	0.004878	0	0
FNDC5	252995	broad.mit.edu	37	1	33333848	33333848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:33333848C>T	ENST00000373471.3	-	3	418	c.127G>A	c.(127-129)Gag>Aag	p.E43K		NM_001171940.1|NM_153756.2	NP_001165411.1|NP_715637.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	102	Fibronectin type-III.					integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AGCACAGGCTCGCTGGCTGGG	0.617000													35	49					0	0	0.003755	0	0
PLCL2	23228	broad.mit.edu	37	3	17052786	17052786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:17052786G>A	ENST00000418129.2	+	2	2035	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	PLCL2_ENST00000396755.2_Missense_Mutation_p.E524K|PLCL2_ENST00000432376.1_Missense_Mutation_p.E524K	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	650	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TTCCTTTAATGAAGTGCTTGC	0.413000													42	65					0	0	0.003214	0	0
RPA3	6119	broad.mit.edu	37	7	7676670	7676670	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:7676670G>A	ENST00000223129.4	-	8	1498	c.327C>T	c.(325-327)ttC>ttT	p.F109F	RPA3_ENST00000396682.2_Silent_p.F109F|RPA3_ENST00000406109.1_Silent_p.F70F|RPA3_ENST00000401447.1_Silent_p.F70F	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	109					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		AAAACTGAGGGAAGTCATGGA	0.318000								Direct reversal of damage;Nucleotide excision repair (NER)					72	84					0	0	0.003610	0	0
AGT	183	broad.mit.edu	37	1	230841680	230841680	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:230841680G>A	ENST00000366667.4	-	3	1337	c.1124_splice	c.e3+1	p.R375_splice		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	375			R -> Q (in RTD).		activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GGCTCCTACCGGGGAGATAGT	0.607000													70	59					0	0	0.003610	0	0
CAPSL	133690	broad.mit.edu	37	5	35910100	35910100	+	Silent	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35910100T>A	ENST00000397367.2	-	4	519	c.393A>T	c.(391-393)atA>atT	p.I131I	CAPSL_ENST00000514524.1_Silent_p.I131I|CAPSL_ENST00000397366.1_Silent_p.I131I	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	131	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTTCGATTGTTATAACACCAT	0.378000													45	71					0	0	0.002852	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717356	2717356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:2717356G>A	ENST00000323469.4	-	2	632	c.449C>T	c.(448-450)tCg>tTg	p.S150L	DIRAS1_ENST00000585334.1_Missense_Mutation_p.S150L	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	150					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CATCTTGGCCGAGGTCTCCAT	0.632000													20	33					0	0	0.001216	0	0
NBEA	26960	broad.mit.edu	37	13	36125135	36125135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:36125135G>A	ENST00000400445.3	+	43	7306	c.6772G>A	c.(6772-6774)Gga>Aga	p.G2258R	NBEA_ENST00000310336.4_Missense_Mutation_p.G2258R|NBEA_ENST00000379939.2_Missense_Mutation_p.G2255R|NBEA_ENST00000537702.1_Missense_Mutation_p.G51R|NBEA_ENST00000540320.1_Missense_Mutation_p.G2258R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2258						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCCTCGGGTTGGAGTAGGGAC	0.358000													19	25					0	0	0.001882	0	0
KRT38	8687	broad.mit.edu	37	17	39596766	39596766	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39596766G>A	ENST00000246646.3	-	1	407	c.408C>T	c.(406-408)ctC>ctT	p.L136L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	136	Coil 1A.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCCTCTCGAGGAGTGTGGCCT	0.592000													49	10					0	0	0.003610	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058080	152058080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152058080C>T	ENST00000368806.1	-	3	2142	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	693							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCTGCTATCTCCCTTTCCAGG	0.458000													56	125					0	0	0.003610	0	0
ATAD2B	54454	broad.mit.edu	37	2	24110840	24110840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:24110840G>A	ENST00000238789.5	-	4	777	c.434C>T	c.(433-435)cCc>cTc	p.P145L		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	145							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCTCGAAGGGGATGGCTTCG	0.353000													12	33					0	0	0.000978	0	0
OTOS	150677	broad.mit.edu	37	2	241078729	241078729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:241078729G>A	ENST00000391989.2	-	5	358	c.128C>T	c.(127-129)tCc>tTc	p.S43F	OTOS_ENST00000319460.1_Missense_Mutation_p.S43F			Q8NHW6	OTOSP_HUMAN	otospiralin	43						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GTCAGAGGTGGAGAAAGGCCA	0.617000													18	40					0	0	0.001216	0	0
SEZ6	124925	broad.mit.edu	37	17	27308743	27308743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:27308743G>A	ENST00000317338.12	-	2	798	c.370C>T	c.(370-372)Cca>Tca	p.P124S	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.P124S|SEZ6_ENST00000442608.3_Missense_Mutation_p.P124S|SEZ6_ENST00000335960.6_Missense_Mutation_p.P124S			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	124	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCCATGGCTGGAGTGGGGCTG	0.647000													29	9					0	0	0.001271	0	0
SCN3A	6328	broad.mit.edu	37	2	166020939	166020939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166020939G>A	ENST00000360093.3	-	6	1056	c.565C>T	c.(565-567)Cca>Tca	p.P189S	SCN3A_ENST00000283254.7_Missense_Mutation_p.P189S|SCN3A_ENST00000409101.3_Missense_Mutation_p.P189S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	189						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)	CAGTTCCATGGATCACGAAGA	0.373000													20	34					0	0	0.001216	0	0
HACE1	57531	broad.mit.edu	37	6	105192055	105192055	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:105192055G>A	ENST00000262903.4	-	22	2769	c.2493C>T	c.(2491-2493)ctC>ctT	p.L831L	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Silent_p.L616L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	831	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CAAACTGTAAGAGAAGAACTC	0.328000													35	66					0	0	0.003271	0	0
SULT1C4	27233	broad.mit.edu	37	2	108999892	108999892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108999892G>A	ENST00000272452.2	+	5	867	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	SULT1C4_ENST00000409309.3_Missense_Mutation_p.E106K	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CTCCTGGCATGAACATGTGAA	0.468000													18	23					0	0	0.001216	0	0
CNGA2	1260	broad.mit.edu	37	X	150911752	150911752	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:150911752C>T	ENST00000329903.4	+	6	810	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	259					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTTGAGTTCTTTGACCGGA	0.522000													53	7					0	0	0.003610	0	0
SLC13A1	6561	broad.mit.edu	37	7	122821071	122821071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:122821071G>A	ENST00000194130.2	-	2	223	c.184C>T	c.(184-186)Cct>Tct	p.P62S	SLC13A1_ENST00000539873.1_5'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	62						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ATTAAACTAGGTAGCAAAGCT	0.423000													36	25					0	0	0.004878	0	0
TTN	7273	broad.mit.edu	37	2	179547523	179547523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179547523C>T	ENST00000589042.1	-	135	33219	c.32995G>A	c.(32995-32997)Gaa>Aaa	p.E10999K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10682K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9755K|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10682	Glu-rich.|Pro-rich.						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)			TCCTCAAATTCTTTATAATCA	0.363000													64	87					0	0	0.003610	0	0
C11orf30	56946	broad.mit.edu	37	11	76207326	76207326	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:76207326C>T	ENST00000529032.1	+	8	1176	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	C11orf30_ENST00000524490.1_Intron|C11orf30_ENST00000343878.3_Silent_p.A392A|C11orf30_ENST00000524767.1_Silent_p.A407A|C11orf30_ENST00000533248.1_Silent_p.A406A|C11orf30_ENST00000334736.3_Silent_p.A392A|C11orf30_ENST00000525038.1_Silent_p.A407A|C11orf30_ENST00000525919.1_Silent_p.A393A			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	392	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TAGTGAGTGCCCCAACTCAGA	0.448000													31	31					0	0	0.001512	0	0
KCNC1	3746	broad.mit.edu	37	11	17793712	17793712	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17793712G>A	ENST00000379472.3	+	2	1101	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	KCNC1_ENST00000265969.6_Silent_p.L357L	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	357						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGGGCGTGCTGATCTTCGCCA	0.612000													10	14					0	0	0.000673	0	0
TNNT2	7139	broad.mit.edu	37	1	201335988	201335988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201335988C>T	ENST00000509001.1	-	7	467	c.181G>A	c.(181-183)Gag>Aag	p.E61K	TNNT2_ENST00000236918.7_Missense_Mutation_p.E66K|TNNT2_ENST00000458432.2_Missense_Mutation_p.E73K|TNNT2_ENST00000360372.4_Missense_Mutation_p.E56K|TNNT2_ENST00000421663.2_Missense_Mutation_p.E63K|TNNT2_ENST00000367320.2_Missense_Mutation_p.E70K|TNNT2_ENST00000367317.4_Missense_Mutation_p.E61K|TNNT2_ENST00000367315.2_Missense_Mutation_p.E61K|TNNT2_ENST00000367318.5_Missense_Mutation_p.E61K|TNNT2_ENST00000367322.1_Missense_Mutation_p.E61K	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	71					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TTGGACTCCTCCATTGGGCCA	0.597000													41	33					0	0	0.003610	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231709	29231709	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29231709C>T	ENST00000441381.1	+	0	180																											AGATGTTTATCCAGTAATGGC	0.408000													44	58					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238277429	238277429	+	Silent	SNP	G	G	A	rs147215386		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:238277429G>A	ENST00000295550.4	-	10	5129	c.4677C>T	c.(4675-4677)ttC>ttT	p.F1559F	COL6A3_ENST00000409809.1_Silent_p.F1353F|COL6A3_ENST00000347401.3_Silent_p.F1358F|COL6A3_ENST00000353578.4_Silent_p.F1353F|COL6A3_ENST00000472056.1_Silent_p.F952F|COL6A3_ENST00000346358.4_Silent_p.F1359F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1559	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCACCTGGGCGAACCTGGACA	0.572000													27	40					0	0	0.004656	0	0
GPR68	8111	broad.mit.edu	37	14	91700725	91700725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:91700725C>T	ENST00000531499.2	-	2	1009	c.670G>A	c.(670-672)Gac>Aac	p.D224N	GPR68_ENST00000238699.3_Missense_Mutation_p.D234N|GPR68_ENST00000535815.1_Missense_Mutation_p.D224N			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	224					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TGGATCTGGTCCTTGCGGCTC	0.677000													8	2					0	0	0.004482	0	0
FAT4	79633	broad.mit.edu	37	4	126372579	126372579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126372579C>T	ENST00000394329.3	+	9	10421	c.10408C>T	c.(10408-10410)Cga>Tga	p.R3470*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1768*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3470	Cadherin 33.				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						AGAATTAGATCGAGAAACCCT	0.448000													30	47					0	0	0.001271	0	0
KCNB2	9312	broad.mit.edu	37	8	73848499	73848499	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:73848499C>T	ENST00000523207.1	+	3	1497	c.909C>T	c.(907-909)ttC>ttT	p.F303F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	303					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCCAGATCTTCCGAATCATGC	0.527000													22	42					0	0	0.001523	0	0
CCDC102B	79839	broad.mit.edu	37	18	66541936	66541936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:66541936G>A	ENST00000360242.5	+	5	1084	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	CCDC102B_ENST00000319445.6_Missense_Mutation_p.E323K|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E323K|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E323K	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	323										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ACATAATGATGAAATGCAAGA	0.363000													13	32					0	0	0.001855	0	0
INTS6	26512	broad.mit.edu	37	13	51963578	51963578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:51963578G>A	ENST00000311234.4	-	6	1088	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	INTS6_ENST00000463928.1_Missense_Mutation_p.R206C|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.R193C|INTS6_ENST00000497989.1_Missense_Mutation_p.R28C|INTS6_ENST00000420668.2_Silent_p.A144A	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	206	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		GAATATGAACGGCCTGAGATT	0.368000													31	59					0	0	0.002096	0	0
ELOVL2	54898	broad.mit.edu	37	6	10995379	10995379	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:10995379G>A	ENST00000354666.3	-	5	449	c.366C>T	c.(364-366)tcC>tcT	p.S122S		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	122					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CTACTGATTTGGAGAAATAGT	0.408000													18	32					0	0	0.001882	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407156	38407156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38407156G>A	ENST00000322350.5	+	8	1401	c.1055G>A	c.(1054-1056)tGc>tAc	p.C352Y	EGFLAM_ENST00000354891.3_Missense_Mutation_p.C352Y|EGFLAM_ENST00000336740.6_Missense_Mutation_p.C118Y|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	352	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GAAACTCTCTGCTCTGCTGAC	0.562000													30	26					0	0	0.001512	0	0
CAMKV	79012	broad.mit.edu	37	3	49898695	49898695	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49898695C>T	ENST00000477224.1	-	6	958	c.480G>A	c.(478-480)tcG>tcA	p.S160S	CAMKV_ENST00000488336.1_Silent_p.S160S|CAMKV_ENST00000467248.1_Silent_p.S85S|CAMKV_ENST00000466940.1_Silent_p.S117S|CAMKV_ENST00000463537.1_Silent_p.S160S|CAMKV_ENST00000296471.7_Silent_p.S160S			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	160	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGACAATCTTCGAGTTCTTCA	0.542000													11	24					0	0	0.001368	0	0
KIF5C	3800	broad.mit.edu	37	2	149866805	149866805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:149866805C>T	ENST00000435030.1	+	24	3075	c.2707C>T	c.(2707-2709)Cgt>Tgt	p.R903C	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.R671C|KIF5C_ENST00000414838.2_Missense_Mutation_p.R808C			O60282	KIF5C_HUMAN	kinesin family member 5C	903	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGTGGATCGTATCAAGGA	0.647000													4	2					0	0	0.001984	0	0
CCDC110	256309	broad.mit.edu	37	4	186381301	186381301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:186381301C>T	ENST00000307588.3	-	6	515	c.440G>A	c.(439-441)aGt>aAt	p.S147N	CCDC110_ENST00000510617.1_Missense_Mutation_p.S147N|CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Missense_Mutation_p.S110N	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	147						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ACTATCACCACTTAATTTTTC	0.373000													29	52					0	0	0.001512	0	0
BAGE2	85319	broad.mit.edu	37	21	11038751	11038751	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:11038751G>A	ENST00000470054.1	-	0	1452									B melanoma antigen family, member 2															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)		GGTCTACCAGGAGAAAATTTT	0.373000													26	84					0	0	0.004656	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324175	61324175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61324175G>A	ENST00000283752.5	-	7	801	c.658C>T	c.(658-660)Cat>Tat	p.H220Y	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Intron	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	220					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GAGGCAAAATGAAAAGATGTG	0.398000													19	30					0	0	0.006122	0	0
AKR1D1	6718	broad.mit.edu	37	7	137782621	137782621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:137782621G>A	ENST00000242375.3	+	4	430	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	AKR1D1_ENST00000411726.2_Missense_Mutation_p.E130K|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.E130K	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	130					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GCCAGGAGATGAAATATACCC	0.294000													63	47					0	0	0.003610	0	0
C2orf62	375307	broad.mit.edu	37	2	219232241	219232241	+	Splice_Site	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219232241G>T	ENST00000289388.3	+	9	950	c.921_splice	c.e9+1	p.K307_splice	AC021016.6_ENST00000441749.1_RNA|C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	307										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGACCGGAAGGTGAGGGGAG	0.547000													23	41					1.37878e-21	2.59365e-21	0.003330	1	0
SLC9A2	6549	broad.mit.edu	37	2	103300637	103300637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103300637C>T	ENST00000233969.2	+	5	1409	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	423						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCGGACCATTCCCCTGACCTT	0.463000													27	46					0	0	0.005443	0	0
TONSL	4796	broad.mit.edu	37	8	145667672	145667672	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145667672G>A	ENST00000409379.3	-	6	731	c.702C>T	c.(700-702)acC>acT	p.T234T		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	234					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCTTCCTCATGGTGTGCGCAC	0.647000													19	32					0	0	0.001523	0	0
LZIC	84328	broad.mit.edu	37	1	9994837	9994837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:9994837G>A	ENST00000377223.1	-	5	566	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	LZIC_ENST00000377213.1_Missense_Mutation_p.R107W|LZIC_ENST00000541052.1_Missense_Mutation_p.R128W|LZIC_ENST00000400903.2_Missense_Mutation_p.R107W			Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	107							beta-catenin binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		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;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		AACCTTGTCCGAAGCTGACCT	0.398000													112	171					0	0	0.003610	0	0
ATP13A4	84239	broad.mit.edu	37	3	193177020	193177020	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:193177020G>A	ENST00000342695.4	-	14	1846	c.1523_splice	c.e14-1	p.G508_splice	ATP13A4_ENST00000295548.3_Splice_Site_p.G508_splice|ATP13A4_ENST00000392443.3_Splice_Site_p.G489_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	508					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTCCTGAAAGCTTAAGGAGA	0.458000													18	26					0	0	0.001216	0	0
ENPEP	2028	broad.mit.edu	37	4	111397853	111397853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:111397853G>A	ENST00000265162.5	+	1	625	c.283G>A	c.(283-285)Gac>Aac	p.D95N		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	95					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCGACTGCCGGACTTCGTCAA	0.612000													15	38					0	0	0.004990	0	0
NOS1	4842	broad.mit.edu	37	12	117768576	117768576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:117768576G>A	ENST00000317775.6	-	2	984	c.299C>T	c.(298-300)cCt>cTt	p.P100L	NOS1_ENST00000338101.4_Missense_Mutation_p.P100L|NOS1_ENST00000344089.3_Missense_Mutation_p.P100L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	100	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAAACCTTCAGGGCCCCTCAG	0.627000													11	18					0	0	0.001368	0	0
SOCS6	9306	broad.mit.edu	37	18	67992221	67992221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:67992221C>T	ENST00000397942.3	+	2	633	c.317C>T	c.(316-318)tCc>tTc	p.S106F	SOCS6_ENST00000582322.1_Missense_Mutation_p.S106F	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	106	Poly-Ser.				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				ACCTTCTCCTCCTCCTCAGCA	0.582000													27	31					0	0	0.005443	0	0
DUSP8	1850	broad.mit.edu	37	11	1586989	1586989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1586989C>T	ENST00000397374.3	-	2	195	c.68G>A	c.(67-69)gGg>gAg	p.G23E	DUSP8_ENST00000331588.4_Missense_Mutation_p.G23E	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	23	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCCCCCAGGCCCGCCCCGCAG	0.662000													21	47					0	0	0.003330	0	0
COL4A4	1286	broad.mit.edu	37	2	227968695	227968695	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:227968695C>T	ENST00000396625.3	-	13	1016	c.809G>A	c.(808-810)gGa>gAa	p.G270E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G270E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	270	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TACCTTTTCTCCTTTATAGAG	0.398000													18	26					0	0	0.001523	0	0
ANK3	288	broad.mit.edu	37	10	61946557	61946557	+	Silent	SNP	G	G	A	rs146438080	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61946557G>A	ENST00000280772.1	-	17	2192	c.2001C>T	c.(1999-2001)tcC>tcT	p.S667S	ANK3_ENST00000373827.2_Silent_p.S661S|ANK3_ENST00000503366.1_Silent_p.S650S	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	667					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGAGATGGACGGAAGCAATTC	0.522000													20	24					0	0	0.001216	0	0
PPP6R3	55291	broad.mit.edu	37	11	68312445	68312445	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:68312445T>A	ENST00000393799.2	+	4	634	c.367T>A	c.(367-369)Ttc>Atc	p.F123I	PPP6R3_ENST00000393801.3_Missense_Mutation_p.F123I|PPP6R3_ENST00000524845.1_Missense_Mutation_p.F123I|PPP6R3_ENST00000527403.2_Missense_Mutation_p.F123I|PPP6R3_ENST00000265636.5_Missense_Mutation_p.F123I|PPP6R3_ENST00000265637.4_Missense_Mutation_p.F123I|PPP6R3_ENST00000393800.2_Missense_Mutation_p.F123I|PPP6R3_ENST00000524904.1_Missense_Mutation_p.F123I|PPP6R3_ENST00000534534.1_Missense_Mutation_p.F32I|PPP6R3_ENST00000529710.1_Missense_Mutation_p.F123I			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	123					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ACTTGCCAGTTTCTTCAGCAA	0.398000													22	40					0	0	0.003330	0	0
PSMC4	5704	broad.mit.edu	37	19	40480235	40480235	+	Silent	SNP	C	C	T	rs138214626		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:40480235C>T	ENST00000157812.2	+	4	555	c.357C>T	c.(355-357)atC>atT	p.I119I	PSMC4_ENST00000455878.2_Silent_p.I88I	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	119					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGAGCACCATCGATCGGGAGC	0.597000													11	32					0	0	0.001855	0	0
XIRP2	129446	broad.mit.edu	37	2	168098326	168098326	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168098326C>T	ENST00000409195.1	+	8	1171	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	XIRP2_ENST00000420519.1_Missense_Mutation_p.S394L|XIRP2_ENST00000409043.1_Missense_Mutation_p.S361L|XIRP2_ENST00000409756.2_Missense_Mutation_p.S361L|XIRP2_ENST00000409605.1_Missense_Mutation_p.S139L|XIRP2_ENST00000295237.9_Missense_Mutation_p.S361L|XIRP2_ENST00000409273.1_Missense_Mutation_p.S139L|XIRP2_ENST00000409728.1_Missense_Mutation_p.S394L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	186					actin cytoskeleton organization	cell junction	actin binding	p.S394*(1)|p.S361*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAAAGGTTTCGACTAAGTTG	0.363000													38	46					0	0	0.004289	0	0
HOPX	84525	broad.mit.edu	37	4	57522114	57522114	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:57522114T>A	ENST00000554144.1	-	3	641	c.107A>T	c.(106-108)gAg>gTg	p.E36V	HOPX_ENST00000503639.3_Missense_Mutation_p.E18V|HOPX_ENST00000381260.3_Missense_Mutation_p.E18V|HOPX_ENST00000508121.1_Missense_Mutation_p.E36V|HOPX_ENST00000555760.2_Missense_Mutation_p.E18V|HOPX_ENST00000556614.2_Missense_Mutation_p.E18V|HOPX_ENST00000317745.7_Missense_Mutation_p.E18V|HOPX_ENST00000381255.3_Missense_Mutation_p.E18V|HOPX_ENST00000337881.7_Missense_Mutation_p.E18V|HOPX_ENST00000420433.1_Missense_Mutation_p.E36V|HOPX_ENST00000553379.2_Missense_Mutation_p.E18V|HOPX_ENST00000556376.2_Missense_Mutation_p.E18V	NM_001145460.1	NP_001138932.1	Q9BPY8	HOP_HUMAN	HOP homeobox	18					negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					GAAGTTGTACTCCAGGATTTC	0.677000													4	10					0	0	0.000602	0	0
DSC1	1823	broad.mit.edu	37	18	28725645	28725645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:28725645G>A	ENST00000257197.3	-	7	1129	c.868C>T	c.(868-870)Cat>Tat	p.H290Y	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.H290Y	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	290	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.H290Y(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGCTTTGGATGATCTGGGATT	0.408000													37	49					0	0	0.004878	0	0
NEGR1	257194	broad.mit.edu	37	1	71873224	71873224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:71873224C>T	ENST00000357731.4	-	7	1209	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	NEGR1_ENST00000434200.1_Missense_Mutation_p.G278R|NEGR1_ENST00000306821.3_Missense_Mutation_p.G196R|ZRANB2-AS2_ENST00000430605.1_RNA	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	324					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCAGCGCTCCCGGTAATTCCA	0.393000													6	18					0	0	0.003080	0	0
RFPL3	10738	broad.mit.edu	37	22	32754371	32754371	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:32754371G>A	ENST00000249007.4	+	1	518	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	RFPL3_ENST00000382088.3_Missense_Mutation_p.E76K|RFPL3_ENST00000397468.1_Missense_Mutation_p.E76K	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	105							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCACATCAAGGAACTGGAGCC	0.517000													35	37					0	0	0.003755	0	0
HERPUD2	64224	broad.mit.edu	37	7	35674035	35674035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:35674035G>A	ENST00000396081.1	-	7	1750	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Nonsense_Mutation_p.Q316*	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	316					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						CATCCAGCTTGGTGTCTGTTC	0.343000													26	29					0	0	0.001271	0	0
RNF152	220441	broad.mit.edu	37	18	59483292	59483292	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:59483292G>A	ENST00000312828.3	-	2	1504	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	135					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GTTCAGCAGGGATGGTCACCA	0.692000													14	21					0	0	0.004990	0	0
SLIT1	6585	broad.mit.edu	37	10	98781151	98781151	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:98781151G>A	ENST00000266058.4	-	26	2847	c.2602C>T	c.(2602-2604)Cta>Tta	p.L868L	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.L868L	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	868	LRRCT 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCACAGTATAGGGGGTTGGCA	0.607000													8	15					0	0	0.003080	0	0
BCOR	54880	broad.mit.edu	37	X	39923791	39923791	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:39923791A>T	ENST00000342274.4	-	7	3662	c.3300T>A	c.(3298-3300)ctT>ctA	p.L1100L	BCOR_ENST00000397354.3_Silent_p.L1100L|BCOR_ENST00000378463.1_5'UTR|BCOR_ENST00000378444.4_Silent_p.L1100L|BCOR_ENST00000378455.4_Silent_p.L1082L	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1100					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCTCCACAGGAAGATCTTTGT	0.587000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						23	4					0	0	0.002780	0	0
ASZ1	136991	broad.mit.edu	37	7	117007497	117007497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:117007497G>A	ENST00000284629.2	-	12	1246	c.1184C>T	c.(1183-1185)cCc>cTc	p.P395L		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	395					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AAAATTCTGGGGAGAAGCCCA	0.284000													69	10					0	0	0.003610	0	0
WDR96	80217	broad.mit.edu	37	10	105945764	105945764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:105945764C>T	ENST00000357060.3	-	15	2093	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R	WDR96_ENST00000278064.2_Missense_Mutation_p.G591R|WDR96_ENST00000428666.1_Missense_Mutation_p.G661R	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	660										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACAGAATTCCACATTTAGCT	0.338000													29	65					0	0	0.001512	0	0
CSMD1	64478	broad.mit.edu	37	8	3200966	3200966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:3200966C>T	ENST00000602557.1	-	24	4039	c.3484G>A	c.(3484-3486)Gat>Aat	p.D1162N	CSMD1_ENST00000602723.1_Missense_Mutation_p.D1162N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D1161N|CSMD1_ENST00000520002.1_Missense_Mutation_p.D1162N|CSMD1_ENST00000539096.1_Missense_Mutation_p.D1161N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D1161N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D1162N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1162	CUB 7.					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)		TCTTTTCCATCATATACCTGA	0.418000													19	3					0	0	0.006122	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982957	92982957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:92982957C>T	ENST00000523629.1	-	11	1922	c.1468G>A	c.(1468-1470)Gtc>Atc	p.V490I	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.V463I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.V453I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.V490I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.V453I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.V453I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.V463I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.V501I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	490					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCTCGGCGACCGTGCGCTCC	0.602000													18	31					0	0	0.003330	0	0
KBTBD12	166348	broad.mit.edu	37	3	127702959	127702959	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:127702959C>T	ENST00000405109.1	+	6	2177	c.1710C>T	c.(1708-1710)tcC>tcT	p.S570S	KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000343941.4_Silent_p.S145S|KBTBD12_ENST00000405256.1_Silent_p.S570S|KBTBD12_ENST00000407609.3_Silent_p.S177S			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	570										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AGGTTATCTCCAAAGAAATAT	0.438000													34	58					0	0	0.004289	0	0
ROS1	6098	broad.mit.edu	37	6	117662562	117662562	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117662562C>T	ENST00000368508.3	-	29	5101		c.e29+1		GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTCACTGTACCTTTAACACA	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								26	41					0	0	0.004656	0	0
NIPBL	25836	broad.mit.edu	37	5	36984971	36984971	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:36984971C>A	ENST00000282516.8	+	10	2188	c.1689C>A	c.(1687-1689)tcC>tcA	p.S563S	NIPBL_ENST00000448238.2_Silent_p.S563S|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	563					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTCAGACTCCATAAAAAAGC	0.408000													17	153					0.000566183	0.00105378	0.004990	1	0
VSTM1	284415	broad.mit.edu	37	19	54545034	54545034	+	Splice_Site	SNP	G	G	A	rs148134957	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54545034G>A	ENST00000338372.2	-	8	765	c.591_splice	c.e8+1	p.S197_splice	VSTM1_ENST00000376626.1_Splice_Site_p.S166_splice|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Splice_Site_p.S109_splice	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	197						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGGACTCACCGAGAGAGATAC	0.458000													6	26					0	0	0.003080	0	0
ITGB3	3690	broad.mit.edu	37	17	45367084	45367084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45367084C>T	ENST00000559488.1	+	7	993	c.977C>T	c.(976-978)tCc>tTc	p.S326F	ITGB3_ENST00000571680.1_Missense_Mutation_p.S326F|ITGB3_ENST00000560629.1_Silent_p.I314I|ITGB3_ENST00000435993.2_Missense_Mutation_p.S279F	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	326	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GAGAAGCTATCCCAGAAAAAC	0.448000													46	5					0	0	0.003610	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29493372	29493372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:29493372G>A	ENST00000283351.4	-	5	1066	c.731C>T	c.(730-732)cCt>cTt	p.P244L	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P190L|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.P244L	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	244					ER to Golgi vesicle-mediated transport	cis-Golgi network		p.P244H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGACTCCAAGGATCTGGTAT	0.318000													33	57					0	0	0.002836	0	0
KIF1B	23095	broad.mit.edu	37	1	10383993	10383993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:10383993C>T	ENST00000377086.1	+	25	2612	c.2410C>T	c.(2410-2412)Cct>Tct	p.P804S	KIF1B_ENST00000263934.6_Missense_Mutation_p.P758S|KIF1B_ENST00000377081.1_Missense_Mutation_p.P804S			O60333	KIF1B_HUMAN	kinesin family member 1B	804					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCCTTTGCCTCCTGAATTACT	0.448000													56	53					0	0	0.003610	0	0
LTN1	26046	broad.mit.edu	37	21	30338887	30338887	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:30338887G>A	ENST00000361371.4	-	10	2076	c.1926C>T	c.(1924-1926)gtC>gtT	p.V642V	LTN1_ENST00000389195.2_Silent_p.V688V|LTN1_ENST00000389194.2_Silent_p.V688V	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	642							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GTTTGGCTTGGACAATACTCT	0.383000													19	37					0	0	0.006122	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805857	169805857	+	Missense_Mutation	SNP	C	C	T	rs148835131	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:169805857C>T	ENST00000274629.4	-	4	869	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	143					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		ACGCTGGTTTCGTTCCCCCGA	0.617000													14	4					0	0	0.002450	0	0
VWA9	81556	broad.mit.edu	37	15	65899684	65899684	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:65899684G>A	ENST00000395644.4	-	2	370	c.35C>T	c.(34-36)tCc>tTc	p.S12F	VWA9_ENST00000313182.2_Missense_Mutation_p.S12F|VWA9_ENST00000569491.1_Missense_Mutation_p.S12F|VWA9_ENST00000442903.3_Missense_Mutation_p.S12F|VWA9_ENST00000420799.2_Intron|VWA9_ENST00000431261.2_5'UTR|VWA9_ENST00000567744.1_Missense_Mutation_p.S48F					von Willebrand factor A domain containing 9																		TCGGGTCATGGAAAGGGATAC	0.478000													9	19					0	0	0.000673	0	0
OR51B4	79339	broad.mit.edu	37	11	5322356	5322356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5322356C>T	ENST00000380224.1	-	1	870	c.821G>A	c.(820-822)aGc>aAc	p.S274N	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGACATAGCTCATGGTAAT	0.418000													19	36					0	0	0.002299	0	0
ITGAD	3681	broad.mit.edu	37	16	31427896	31427896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:31427896G>A	ENST00000389202.2	+	20	2477	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	810					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGCAGGTGAGGATTCCTACGG	0.612000													39	50					0	0	0.001706	0	0
DCC	1630	broad.mit.edu	37	18	51053061	51053061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:51053061C>T	ENST00000442544.2	+	28	4802	c.4186C>T	c.(4186-4188)Cct>Tct	p.P1396S	DCC_ENST00000581580.1_Missense_Mutation_p.P1029S|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1396					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCCTTTGCTTCCTGTGTCTGT	0.473000													18	43					0	0	0.004990	0	0
BCL11A	53335	broad.mit.edu	37	2	60688199	60688199	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:60688199G>A	ENST00000335712.6	-	4	2075	c.1848C>T	c.(1846-1848)ggC>ggT	p.G616G	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.G582G|BCL11A_ENST00000537768.1_Silent_p.G285G|BCL11A_ENST00000358510.4_Silent_p.G582G|BCL11A_ENST00000356842.4_Silent_p.G616G|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	616					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTTTGGACAGGCCCCCCGAGG	0.667000			T	IGH@	B-CLL								65	94					0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219903722	219903722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219903722C>T	ENST00000341552.5	-	3	132	c.49G>A	c.(49-51)Gag>Aag	p.E17K	CCDC108_ENST00000453220.1_Missense_Mutation_p.E17K|CCDC108_ENST00000441968.1_Missense_Mutation_p.E17K|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000295729.2_Intron|CCDC108_ENST00000409865.3_Intron	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	17						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGGATTCTCCACCTTCTGG	0.433000													20	17					0	0	0.001523	0	0
POLR2A	5430	broad.mit.edu	37	17	7405399	7405399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7405399C>T	ENST00000322644.6	+	15	2929	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	844	Bridging helix.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CATGGGGGGTCGTGAGGGGCT	0.587000													13	2					0	0	0.001855	0	0
C2orf54	79919	broad.mit.edu	37	2	241830991	241830991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:241830991C>T	ENST00000307486.8	-	2	355	c.257G>A	c.(256-258)gGg>gAg	p.G86E	C2orf54_ENST00000402775.2_Missense_Mutation_p.G67E|C2orf54_ENST00000388934.4_Missense_Mutation_p.G235E			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	235										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CAGGTCCACCCCTTGGCTGAG	0.677000													25	25					0	0	0.001512	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449677	61449677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61449677G>A	ENST00000398019.2	+	2	396	c.71G>A	c.(70-72)gGa>gAa	p.G24E	SERPINB7_ENST00000546027.1_Missense_Mutation_p.G24E|SERPINB7_ENST00000336429.2_Missense_Mutation_p.G24E|SERPINB7_ENST00000540675.1_Missense_Mutation_p.G24E	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	24					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GACAATCAAGGAAATGGAAAT	0.502000													20	38					0	0	0.001216	0	0
HRNR	388697	broad.mit.edu	37	1	152195619	152195619	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152195619C>T	ENST00000368801.2	-	2	186	c.111G>A	c.(109-111)ctG>ctA	p.L37L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	37	EF-hand 1.|S-100-like.				keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTCATTTTCCAGAAGTTCTT	0.428000													28	87					0	0	0.001271	0	0
DOCK4	9732	broad.mit.edu	37	7	111555930	111555930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:111555930C>T	ENST00000428084.1	-	13	1368	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.G366R			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	366					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAATGTCTCCGTGCAATAGC	0.353000													7	23					0	0	0.001984	0	0
OR52R1	119695	broad.mit.edu	37	11	4825705	4825705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4825705G>A	ENST00000380382.1	-	1	142	c.143C>T	c.(142-144)tCc>tTc	p.S48F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGGCTTTTGGATGGGACTAT	0.338000													26	49					0	0	0.001061	0	0
OR2AT4	341152	broad.mit.edu	37	11	74800530	74800530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:74800530G>A	ENST00000305159.3	-	1	269	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GTGGTGAAAAGGATGTCCAAG	0.527000													29	23					0	0	0.001061	0	0
CSMD3	114788	broad.mit.edu	37	8	113418864	113418864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:113418864C>T	ENST00000297405.5	-	35	5942	c.5698G>A	c.(5698-5700)Gtt>Att	p.V1900I	CSMD3_ENST00000455883.2_Missense_Mutation_p.V1796I|CSMD3_ENST00000343508.3_Missense_Mutation_p.V1860I|CSMD3_ENST00000352409.3_Missense_Mutation_p.V1830I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1900	Sushi 10.					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						TCAAAAAGAACCGATGAACCG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	72					0	0	0.001512	0	0
ULK4	54986	broad.mit.edu	37	3	41841661	41841661	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:41841661T>C	ENST00000301831.4	-	20	2435	c.1973A>G	c.(1972-1974)cAc>cGc	p.H658R		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	658							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGCAGTGGAGTGTCTGAATAG	0.403000													34	64					0	0	0.003755	0	0
CCDC67	159989	broad.mit.edu	37	11	93170756	93170756	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:93170756C>T	ENST00000298050.3	+	14	1786	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	CCDC67_ENST00000525646.1_Silent_p.F304F	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	562										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CACAGCATTTCCTTCTGGAAG	0.363000													21	37					0	0	0.001523	0	0
OLFM3	118427	broad.mit.edu	37	1	102296230	102296230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:102296230G>A	ENST00000370103.4	-	3	583	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	OLFM3_ENST00000536598.1_Nonsense_Mutation_p.Q49*|OLFM3_ENST00000359814.3_Nonsense_Mutation_p.Q144*|OLFM3_ENST00000338858.5_Nonsense_Mutation_p.Q144*|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	144						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AAACCTACCTGAAAATGCTTG	0.418000													62	91					0	0	0.003610	0	0
CDH11	1009	broad.mit.edu	37	16	65032559	65032559	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:65032559C>T	ENST00000394156.3	-	4	882	c.429G>A	c.(427-429)tcG>tcA	p.S143S	CDH11_ENST00000566827.1_Silent_p.S17S|CDH11_ENST00000268603.4_Silent_p.S143S			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	143	Cadherin 1.				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)		CAATGAATTCCGACGGTGGCT	0.557000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			14	23					0	0	0.003163	0	0
ACKR3	57007	broad.mit.edu	37	2	237490196	237490196	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:237490196G>A	ENST00000272928.3	+	2	1398	c.1088G>A	c.(1087-1089)tGa>tAa	p.*363*		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		AGCACCAAATGATCTGCCCTG	0.512000													17	25					0	0	0.000958	0	0
UNC13C	440279	broad.mit.edu	37	15	54624244	54624244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:54624244G>A	ENST00000545554.1	+	14	4429	c.4429G>A	c.(4429-4431)Gaa>Aaa	p.E1477K	UNC13C_ENST00000537900.1_Missense_Mutation_p.E1475K|UNC13C_ENST00000260323.11_Missense_Mutation_p.E1477K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1477					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTACAGAGGGAAAAATTCAT	0.318000													7	5					0	0	0.003080	0	0
PTPN22	26191	broad.mit.edu	37	1	114394690	114394690	+	Missense_Mutation	SNP	G	G	A	rs143665827		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:114394690G>A	ENST00000359785.5	-	10	922	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	PTPN22_ENST00000525799.1_Missense_Mutation_p.R136W|PTPN22_ENST00000538253.1_Missense_Mutation_p.R19W|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.R263W	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	263	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCATTTCCCGGATCAAACTG	0.348000													13	27					0	0	0.003163	0	0
PDE6C	5146	broad.mit.edu	37	10	95400676	95400676	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95400676G>A	ENST00000371447.3	+	14	1875		c.e14-1			NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime						visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TATTTTTTTAGACAGGAAGAT	0.363000													13	29					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179586739	179586739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179586739C>T	ENST00000589042.1	-	78	22875	c.22651G>A	c.(22651-22653)Gat>Aat	p.D7551N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D7234N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D6307N|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7234	Ig-like 57.						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)			TCCTTGTTATCTTTTGACCAA	0.418000													64	134					0	0	0.003610	0	0
NPHS1	4868	broad.mit.edu	37	19	36339218	36339218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36339218C>T	ENST00000378910.5	-	10	1251	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	NPHS1_ENST00000353632.6_Missense_Mutation_p.E418K	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	418	Ig-like C2-type 4.				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)			CTGAAGGCCTCACATGTGAGG	0.592000													35	28					0	0	0.003755	0	0
PCED1B	91523	broad.mit.edu	37	12	47629002	47629002	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:47629002G>A	ENST00000546455.1	+	4	887	c.156G>A	c.(154-156)ggG>ggA	p.G52G	PCED1B_ENST00000432328.1_Silent_p.G52G					PC-esterase domain containing 1B																		GAGCAAGGGGGGAGCTGAACT	0.612000													15	22					0	0	0.003163	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716574	39716574	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:39716574G>A	ENST00000553728.1	+	4	1009	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MIA2_ENST00000556784.1_Missense_Mutation_p.E265K|MIA2_ENST00000280082.3_Missense_Mutation_p.E266K																							TGACCTAGAGGAATTAAATAA	0.388000													28	9					0	0	0.005443	0	0
OPN4	94233	broad.mit.edu	37	10	88418296	88418296	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:88418296C>T	ENST00000372071.2	+	5	740	c.513C>T	c.(511-513)acC>acT	p.T171T	OPN4_ENST00000241891.5_Silent_p.T160T	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	160					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCATGATCACCCTGACGGCCA	0.627000													22	26					0	0	0.001882	0	0
ZNF324	25799	broad.mit.edu	37	19	58982657	58982657	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58982657C>T	ENST00000536459.2	+	4	1507	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ZNF324_ENST00000535298.1_Silent_p.F43F|ZNF324_ENST00000196482.3_Silent_p.F266F			O75467	Z324A_HUMAN	zinc finger protein 324	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAAAGTGTTCGTGAAGAGCT	0.657000													12	13					0	0	0.004007	0	0
OGDHL	55753	broad.mit.edu	37	10	50955095	50955095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:50955095C>A	ENST00000374103.4	-	9	1232	c.1147G>T	c.(1147-1149)Gga>Tga	p.G383*	OGDHL_ENST00000432695.1_Nonsense_Mutation_p.G174*|OGDHL_ENST00000419399.1_Nonsense_Mutation_p.G326*	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	383					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGGGCATCTCCACGGTAGAAC	0.642000													19	30					1.10923e-09	2.07508e-09	0.002780	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801392	185801392	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:185801392G>A	ENST00000302277.6	+	4	1863	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	423						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GACAATGTGAGCCATTTGTAC	0.363000													66	108					0	0	0.003610	0	0
VAT1L	57687	broad.mit.edu	37	16	77918617	77918617	+	Missense_Mutation	SNP	G	G	A	rs143077114	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:77918617G>A	ENST00000302536.2	+	7	1148	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	332							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GGCCTCATTCGGGGAGTGGTG	0.512000													11	12					0	0	0.000673	0	0
DCC	1630	broad.mit.edu	37	18	50985705	50985705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:50985705G>A	ENST00000442544.2	+	24	4112	c.3496G>A	c.(3496-3498)Gaa>Aaa	p.E1166K	DCC_ENST00000581580.1_Missense_Mutation_p.E801K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1166					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAAAATATTGAAAAGCCATC	0.537000													35	64					0	0	0.002836	0	0
PSKH2	85481	broad.mit.edu	37	8	87076613	87076613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:87076613G>A	ENST00000276616.2	-	2	507	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	145	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CGATCAAAGAGCTCCCCTCCG	0.522000													17	49					0	0	0.004990	0	0
SLC5A7	60482	broad.mit.edu	37	2	108625095	108625095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108625095C>T	ENST00000264047.2	+	8	1346	c.1070C>T	c.(1069-1071)tCc>tTc	p.S357F	SLC5A7_ENST00000540517.1_Missense_Mutation_p.S252F|SLC5A7_ENST00000409059.1_Missense_Mutation_p.S357F	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	357					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCAGCAAGTTCCATGTTTGCA	0.418000													20	30					0	0	0.004656	0	0
ASB17	127247	broad.mit.edu	37	1	76384686	76384686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:76384686G>A	ENST00000284142.6	-	3	978	c.839C>T	c.(838-840)tCa>tTa	p.S280L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	280	SOCS box.				intracellular signal transduction			p.S280L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						AATTAGAAGTGAAAATATTCC	0.348000													33	61					0	0	0.003271	0	0
MYO18B	84700	broad.mit.edu	37	22	26231410	26231410	+	Splice_Site	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26231410G>T	ENST00000335473.7	+	17	3458	c.3208_splice	c.e17+1	p.G1070_splice	MYO18B_ENST00000536101.1_Splice_Site_p.G1070_splice|MYO18B_ENST00000407587.2_Splice_Site_p.G1071_splice	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1070	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGGACTGAAGGTAAGGAAGC	0.562000													27	43					1.88708e-17	3.54491e-17	0.001512	1	0
SEMA3G	56920	broad.mit.edu	37	3	52476763	52476763	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:52476763C>T	ENST00000231721.2	-	2	275	c.276_splice	c.e2+1	p.E92_splice		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	92	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TCCAGCTCACCTCCCGGGGAT	0.617000													15	19					0	0	0.004007	0	0
LY9	4063	broad.mit.edu	37	1	160771614	160771614	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160771614C>T	ENST00000368039.2	+	3	490	c.489C>T	c.(487-489)atC>atT	p.I163I	LY9_ENST00000471816.1_Intron|LY9_ENST00000263285.5_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	167	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCACGTCATCGAGGGTGACC	0.527000													100	69					0	0	0.003610	0	0
CNTLN	54875	broad.mit.edu	37	9	17466874	17466874	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:17466874C>T	ENST00000380647.3	+	23	3924	c.3840C>T	c.(3838-3840)ttC>ttT	p.F1280F	CNTLN_ENST00000262360.5_Silent_p.F1280F|CNTLN_ENST00000425824.1_Silent_p.F1280F			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1280						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAGAAGAGTTCACCACATTTG	0.393000													36	14					0	0	0.001951	0	0
OR2G2	81470	broad.mit.edu	37	1	247752441	247752441	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247752441C>T	ENST00000320065.1	+	1	780	c.780C>T	c.(778-780)ttC>ttT	p.F260F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F260F(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ccatcatcttcatgtatctgc	0.473000													46	35					0	0	0.003610	0	0
AP3S1	1176	broad.mit.edu	37	5	115249169	115249169	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:115249169C>T	ENST00000316788.7	+	6	1121	c.564C>T	c.(562-564)aaC>aaT	p.N188N	AP3S1_ENST00000505423.1_3'UTR	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	188					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		AAGTGCCAAACCTGCCCTCTT	0.398000													19	66					0	0	0.001882	0	0
PSG7	5676	broad.mit.edu	37	19	43428850	43428850	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43428850G>A	ENST00000406070.2	-	0	1466					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				attttcccatgaaatttacat	0.428000													11	21					0	0	0.001368	0	0
ZP1	22917	broad.mit.edu	37	11	60637362	60637362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60637362G>A	ENST00000278853.5	+	3	671	c.671G>A	c.(670-672)cGa>cAa	p.R224Q		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	224					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTGAACAAACGAGATTACATA	0.562000													15	26					0	0	0.004990	0	0
IGBP1	3476	broad.mit.edu	37	X	69366643	69366643	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:69366643A>T	ENST00000342206.6	+	3	1142	c.643A>T	c.(643-645)Ata>Tta	p.I215L	IGBP1_ENST00000356413.4_Missense_Mutation_p.I215L			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	215					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						TGACCAGGAAATAAAGATCCT	0.408000													12	6					0	0	0.001855	0	0
RFX6	222546	broad.mit.edu	37	6	117252551	117252551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117252551C>T	ENST00000332958.2	+	19	2685	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	890					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TATGGAACTTCCAACCAGTAT	0.418000													37	41					0	0	0.003755	0	0
DAO	1610	broad.mit.edu	37	12	109294211	109294211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:109294211G>A	ENST00000228476.3	+	11	1148	c.944G>A	c.(943-945)gGg>gAg	p.G315E	DAO_ENST00000551281.1_Missense_Mutation_p.G249E	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	315					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGAGGCTACGGGCTCACCATC	0.537000													25	39					0	0	0.005443	0	0
FCRL3	115352	broad.mit.edu	37	1	157668387	157668387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157668387G>A	ENST00000368184.3	-	4	376	c.85C>T	c.(85-87)Cct>Tct	p.P29S	FCRL3_ENST00000368186.5_Missense_Mutation_p.P29S	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	29	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GACCATGGAGGATTGAGGAGA	0.507000													36	32					0	0	0.004878	0	0
SCN9A	6335	broad.mit.edu	37	2	167085308	167085308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167085308G>A	ENST00000303354.6	-	22	4442	c.4102C>T	c.(4102-4104)Cgt>Tgt	p.R1368C	SCN9A_ENST00000375387.4_Missense_Mutation_p.R1368C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1356C|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1367C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1367						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CATTCGGAACGATTTGGAACT	0.403000													90	120					0	0	0.003610	0	0
CACNA1I	8911	broad.mit.edu	37	22	40064362	40064362	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40064362G>A	ENST00000336649.4	+	27	4188	c.4188G>A	c.(4186-4188)ctG>ctA	p.L1396L	CACNA1I_ENST00000402142.3_Silent_p.L1390L|CACNA1I_ENST00000407673.1_Silent_p.L1355L|CACNA1I_ENST00000404898.1_Silent_p.L1355L|CACNA1I_ENST00000401624.1_Silent_p.L1390L|CACNA1I_ENST00000400164.3_Silent_p.L1355L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1390					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACAATGGACTGGATGCTGTTG	0.567000													6	15					0	0	0.001984	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892321	9892321	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:9892321C>T	ENST00000396573.2	-	12	2478	c.2168_splice	c.e12-1	p.G723_splice	GRIN2A_ENST00000330684.3_Splice_Site_p.G723_splice|GRIN2A_ENST00000535259.1_Splice_Site_p.G566_splice|GRIN2A_ENST00000562109.1_Splice_Site_p.G723_splice|GRIN2A_ENST00000404927.2_Splice_Site_p.G723_splice|GRIN2A_ENST00000396575.2_Splice_Site_p.G723_splice	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	723					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)	CGTCCAGCTTCCTGAAATGAC	0.547000													16	17					0	0	0.006122	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471556	61471556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61471556C>T	ENST00000398019.2	+	8	1155	c.830C>T	c.(829-831)cCt>cTt	p.P277L	SERPINB7_ENST00000546027.1_Missense_Mutation_p.P277L|SERPINB7_ENST00000336429.2_Missense_Mutation_p.P277L|SERPINB7_ENST00000540675.1_Missense_Mutation_p.P260L	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	277					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GTATTTTTTCCTCAGTTCAAG	0.353000													15	26					0	0	0.004007	0	0
LOC440040	440040	broad.mit.edu	37	11	49805494	49805494	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:49805494C>T	ENST00000527477.1	+	0	1182																											TGATAAGCTGCTGAAGAAGCT	0.537000													12	9					0	0	0.004007	0	0
CSMD3	114788	broad.mit.edu	37	8	113662510	113662510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:113662510C>T	ENST00000297405.5	-	19	3317	c.3073G>A	c.(3073-3075)Gat>Aat	p.D1025N	CSMD3_ENST00000455883.2_Missense_Mutation_p.D921N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D985N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1025N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1025	Sushi 5.					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						ATGGAGAAATCATGACCATAG	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			89	68					0	0	0.003610	0	0
CORO7	79585	broad.mit.edu	37	16	4409336	4409336	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:4409336G>A	ENST00000251166.4	-	23	2446	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F	CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Silent_p.F767F|CORO7_ENST00000537233.2_Silent_p.F749F|CORO7_ENST00000574025.1_Silent_p.F682F|CORO7_ENST00000539968.1_Silent_p.F547F	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGCACTCCAGGAAGAAAGGGG	0.667000											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20					0	0	0.001984	0	0
PSMD5	5711	broad.mit.edu	37	9	123589142	123589142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:123589142G>A	ENST00000210313.3	-	6	789	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	PSMD5_ENST00000373904.5_Missense_Mutation_p.H196Y|PSMD5-AS1_ENST00000589026.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TGTCGCCCATGATGAGTATAT	0.393000													68	21					0	0	0.003610	0	0
ACSS3	79611	broad.mit.edu	37	12	81532947	81532947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81532947C>T	ENST00000548058.1	+	4	1593	c.683C>T	c.(682-684)cCt>cTt	p.P228L	ACSS3_ENST00000261206.3_Missense_Mutation_p.P227L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	228						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGCATTGAACCTGGAAGGAGG	0.348000													19	25					0	0	0.001882	0	0
KCNH5	27133	broad.mit.edu	37	14	63447650	63447650	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:63447650C>T	ENST00000322893.7	-	6	1150	c.882G>A	c.(880-882)gtG>gtA	p.V294V	KCNH5_ENST00000394968.1_Silent_p.V236V|KCNH5_ENST00000394964.2_Silent_p.V236V|KCNH5_ENST00000420622.2_Silent_p.V294V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	294					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GCAGATCGATCACAAACCAAG	0.408000													51	4					0	0	0.003610	0	0
OR5H2	79310	broad.mit.edu	37	3	98001920	98001920	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:98001920C>T	ENST00000355273.2	+	1	189	c.189C>T	c.(187-189)ccC>ccT	p.P63P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTCACATCCCCATGTACTTTT	0.418000													91	147					0	0	0.003610	0	0
SZT2	23334	broad.mit.edu	37	1	43903468	43903468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43903468C>T	ENST00000562955.1	+	45	6232	c.6232C>T	c.(6232-6234)Cgt>Tgt	p.R2078C	SZT2_ENST00000372442.1_Missense_Mutation_p.R1236C	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2135						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GTAGGGTCCTCGTTCTCCCTT	0.567000													47	52					0	0	0.003610	0	0
SCN2A	6326	broad.mit.edu	37	2	166245684	166245684	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166245684C>T	ENST00000375437.2	+	27	5658	c.5368C>T	c.(5368-5370)Ctg>Ttg	p.L1790L	SCN2A_ENST00000375427.2_Silent_p.L1790L|SCN2A_ENST00000357398.3_Silent_p.L1790L|SCN2A_ENST00000283256.6_Silent_p.L1790L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1790					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGCAGAGCCTCTGAGTGAGGA	0.443000													34	48					0	0	0.002852	0	0
PDGFA	5154	broad.mit.edu	37	7	550580	550580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:550580G>A	ENST00000402802.3	-	4	726	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	PDGFA_ENST00000354513.5_Missense_Mutation_p.R107W	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	107					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		ACCTGACTCCGAGGAATCTCG	0.642000													8	11					0	0	0.000443	0	0
SAP130	79595	broad.mit.edu	37	2	128747391	128747391	+	Silent	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:128747391C>G	ENST00000357702.5	-	13	1736	c.1605G>C	c.(1603-1605)ggG>ggC	p.G535G	SAP130_ENST00000259234.6_Silent_p.G509G|SAP130_ENST00000259235.3_Silent_p.G535G	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	535					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TAGACGCTACCCCAACACCAG	0.488000													14	21					0	0	0.002450	0	0
NLRP4	147945	broad.mit.edu	37	19	56369832	56369832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56369832G>A	ENST00000301295.6	+	3	1495	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	NLRP4_ENST00000587891.1_Missense_Mutation_p.G283E|NLRP4_ENST00000346986.5_Missense_Mutation_p.G358E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	358	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGCAGAAAGGAAAAGACCTG	0.512000													25	39					0	0	0.003954	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36375118	36375118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:36375118G>A	ENST00000312412.4	-	3	399	c.400C>T	c.(400-402)Cct>Tct	p.P134S	RP11-1407O15.2_ENST00000544906.1_5'UTR																kidney(1)|lung(3)	4						AGAGTACTAGGGAAAGACAAG	0.348000													16	38					0	0	0.001882	0	0
WSCD1	23302	broad.mit.edu	37	17	6023659	6023659	+	Missense_Mutation	SNP	C	C	T	rs148765035		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:6023659C>T	ENST00000574946.1	+	9	1796	c.1406C>T	c.(1405-1407)tCg>tTg	p.S469L	WSCD1_ENST00000539421.1_Missense_Mutation_p.S469L|WSCD1_ENST00000573634.1_Missense_Mutation_p.S353L|WSCD1_ENST00000317744.5_Missense_Mutation_p.S469L|WSCD1_ENST00000574232.1_Missense_Mutation_p.S469L			Q658N2	WSCD1_HUMAN	WSC domain containing 1	469						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AGCTACGCCTCGTGGTGGTCC	0.672000													94	22					0	0	0.003610	0	0
FAM49A	81553	broad.mit.edu	37	2	16742265	16742265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:16742265C>T	ENST00000381323.3	-	9	923	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	FAM49A_ENST00000355549.2_Missense_Mutation_p.E235K|FAM49A_ENST00000406434.1_Missense_Mutation_p.E235K	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	235						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TACGGAGTTTCCAGCATGACT	0.403000													30	42					0	0	0.002445	0	0
MYH7B	57644	broad.mit.edu	37	20	33568446	33568446	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33568446C>A	ENST00000262873.7	+	6	626	c.534C>A	c.(532-534)tcC>tcA	p.S178S	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	136	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ATACGGCCTCCGTAGTGGCTG	0.542000													6	158					0.00198382	0.00368579	0.001984	1	0
SLITRK4	139065	broad.mit.edu	37	X	142716504	142716504	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:142716504C>T	ENST00000381779.4	-	2	2646	c.2421G>A	c.(2419-2421)agG>agA	p.R807R	SLITRK4_ENST00000356928.1_Silent_p.R807R|SLITRK4_ENST00000338017.4_Silent_p.R807R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	807						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACTCTTCCTTTGTTCCA	0.428000													40	3					0	0	0.005524	0	0
TULP1	7287	broad.mit.edu	37	6	35467883	35467883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:35467883C>T	ENST00000229771.6	-	14	1449	c.1370G>A	c.(1369-1371)aGc>aAc	p.S457N	TULP1_ENST00000322263.4_Missense_Mutation_p.S404N	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	457					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TTCTATGAGGCTCTCCAGCGT	0.587000													22	45					0	0	0.002780	0	0
ANAPC5	51433	broad.mit.edu	37	12	121784743	121784743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121784743G>A	ENST00000261819.3	-	3	474	c.353C>T	c.(352-354)tCt>tTt	p.S118F	ANAPC5_ENST00000344395.4_Missense_Mutation_p.S19F|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S19F|ANAPC5_ENST00000541887.1_Missense_Mutation_p.S118F	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	118					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			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)					TCCAGAGAAAGAATCTGAAAG	0.383000													135	245					0	0	0.003610	0	0
HHLA2	11148	broad.mit.edu	37	3	108072296	108072296	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108072296C>T	ENST00000357759.5	+	4	501	c.87C>T	c.(85-87)ttC>ttT	p.F29F	HHLA2_ENST00000467761.1_Silent_p.F29F|HHLA2_ENST00000491820.1_Silent_p.F29F|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000489514.2_Silent_p.F29F	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	29						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGGCTTTCTTCATTTATGTTC	0.378000													6	6					0	0	0.001984	0	0
UNC13B	10497	broad.mit.edu	37	9	35295908	35295908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:35295908C>T	ENST00000378495.3	+	8	964	c.742C>T	c.(742-744)Cca>Tca	p.P248S	UNC13B_ENST00000396787.1_Missense_Mutation_p.P260S|UNC13B_ENST00000378496.4_Missense_Mutation_p.P248S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	248					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTGATTATCCAGAGCGGCG	0.483000													6	2					0	0	0.001168	0	0
ZFAT	57623	broad.mit.edu	37	8	135612690	135612690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:135612690G>A	ENST00000520727.1	-	8	2727	c.2428C>T	c.(2428-2430)Cac>Tac	p.H810Y	ZFAT_ENST00000520356.1_Missense_Mutation_p.H810Y|ZFAT_ENST00000429442.2_Missense_Mutation_p.H810Y|ZFAT_ENST00000523399.1_Missense_Mutation_p.H760Y|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.H810Y|ZFAT_ENST00000377838.3_Missense_Mutation_p.H822Y	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGTGCTGTGTGAACTTTAAGA	0.473000													40	90					0	0	0.001287	0	0
DNAH10	196385	broad.mit.edu	37	12	124363814	124363814	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124363814C>T	ENST00000409039.3	+	48	8047	c.8022C>T	c.(8020-8022)ttC>ttT	p.F2674F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2674					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTGCAGATTCCAGACGGTGG	0.527000													3	5					0	0	0.000248	0	0
COL5A3	50509	broad.mit.edu	37	19	10108691	10108691	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:10108691A>T	ENST00000264828.3	-	10	1254	c.1169T>A	c.(1168-1170)tTt>tAt	p.F390Y		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	390	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGGTCCCTCAAACTGCTGCCC	0.552000													33	67					0	0	0.002096	0	0
CDH4	1002	broad.mit.edu	37	20	60419799	60419799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:60419799G>A	ENST00000360469.5	+	5	740	c.652G>A	c.(652-654)Gag>Aag	p.E218K	CDH4_ENST00000543233.1_Missense_Mutation_p.E144K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	218	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCCCCCCATGGAGGTCTTCAG	0.607000													16	56					0	0	0.000958	0	0
TLR5	7100	broad.mit.edu	37	1	223284970	223284970	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:223284970G>A	ENST00000540964.1	-	4	1865	c.1404C>T	c.(1402-1404)acC>acT	p.T468T	TLR5_ENST00000342210.6_Silent_p.T468T			O60602	TLR5_HUMAN	toll-like receptor 5	468			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	p.T468T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCTCTGAAGGGGTTTGATCTC	0.413000													38	44					0	0	0.005524	0	0
SH3GL3	6457	broad.mit.edu	37	15	84237407	84237407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:84237407G>A	ENST00000324537.5	+	7	830	c.338G>A	c.(337-339)gGg>gAg	p.G113E	SH3GL3_ENST00000535412.1_Missense_Mutation_p.G105E|SH3GL3_ENST00000434347.1_Missense_Mutation_p.G113E|SH3GL3_ENST00000427482.2_Missense_Mutation_p.G105E			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	105	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AAGGAGCTCGGGGAAGACTCC	0.517000													14	21					0	0	0.003163	0	0
FAM71B	153745	broad.mit.edu	37	5	156592958	156592958	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:156592958G>A	ENST00000302938.4	-	1	317	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	74						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTGCAGACGATGCCCACTG	0.493000													142	76					0	0	0.003610	0	0
NPAP1	23742	broad.mit.edu	37	15	24923015	24923015	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:24923015C>T	ENST00000329468.2	+	1	2475	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CCTGTGTTTTCCTGAGCCTTC	0.502000													34	39					0	0	0.003755	0	0
COL14A1	7373	broad.mit.edu	37	8	121256239	121256239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121256239G>A	ENST00000297848.3	+	20	2741	c.2471G>A	c.(2470-2472)gGa>gAa	p.G824E	COL14A1_ENST00000309791.4_Missense_Mutation_p.G824E|COL14A1_ENST00000247781.3_Missense_Mutation_p.G729E|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	824	Fibronectin type-III 6.				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)			TCCGCTCCTGGAAAAACCTGT	0.468000													32	94					0	0	0.003755	0	0
CNKSR3	154043	broad.mit.edu	37	6	154727717	154727717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:154727717G>A	ENST00000607772.1	-	13	1983	c.1439C>T	c.(1438-1440)cCc>cTc	p.P480L	CNKSR3_ENST00000479339.1_Missense_Mutation_p.P400L|CNKSR3_ENST00000433165.2_Missense_Mutation_p.P305L	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	480	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCGGTATGGGGGAGAGGAGCT	0.552000													12	20					0	0	0.001368	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656048	46656048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:46656048G>A	ENST00000253255.5	-	1	3171	c.3172C>T	c.(3172-3174)Ctc>Ttc	p.L1058F		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1058					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACACAGGGAGGCAGACTACA	0.562000													10	13					0	0	0.000443	0	0
ADD2	119	broad.mit.edu	37	2	70922898	70922898	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:70922898G>A	ENST00000264436.3	-	6	954	c.510C>T	c.(508-510)atC>atT	p.I170I	ADD2_ENST00000355733.3_Silent_p.I170I|ADD2_ENST00000413157.2_Silent_p.I170I|ADD2_ENST00000407644.2_Silent_p.I170I|ADD2_ENST00000430656.1_Silent_p.I186I	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	170					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTTAGGGCTGATCAGGAAGT	0.522000													17	17					0	0	0.002299	0	0
OGDH	4967	broad.mit.edu	37	7	44715811	44715811	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:44715811C>T	ENST00000443864.2	+	9	1362	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	OGDH_ENST00000222673.5_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000543843.1_Intron|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000444676.1_Intron	NM_001003941.2	NP_001003941.1	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	0					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCATGGAGTTCCGCTCACCAA	0.522000													10	14					0	0	0.000443	0	0
ST7L	54879	broad.mit.edu	37	1	113124694	113124694	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:113124694T>C	ENST00000358039.4	-	9	1293	c.989A>G	c.(988-990)aAc>aGc	p.N330S	ST7L_ENST00000369669.1_Missense_Mutation_p.N147S|ST7L_ENST00000544629.1_Missense_Mutation_p.N265S|ST7L_ENST00000538187.1_Missense_Mutation_p.N274S|ST7L_ENST00000543570.1_Missense_Mutation_p.N313S|ST7L_ENST00000490067.1_Missense_Mutation_p.N313S|ST7L_ENST00000369668.2_Missense_Mutation_p.N330S|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000360743.4_Missense_Mutation_p.N330S|ST7L_ENST00000343210.7_Missense_Mutation_p.N330S|ST7L_ENST00000369666.1_Missense_Mutation_p.N313S	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	330					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCATGGATGTTCAACATGGT	0.348000													39	56					0	0	0.003610	0	0
LMO7	4008	broad.mit.edu	37	13	76432095	76432095	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:76432095G>A	ENST00000357063.3	+	31	6219	c.4959G>A	c.(4957-4959)acG>acA	p.T1653T	LMO7_ENST00000605961.1_3'UTR|LMO7_ENST00000465261.2_Silent_p.T1368T|LMO7_ENST00000341547.4_3'UTR|LMO7_ENST00000321797.8_3'UTR|LMO7_ENST00000377534.3_3'UTR|LMO7_ENST00000526202.1_3'UTR			Q8WWI1	LMO7_HUMAN	LIM domain 7	0	LIM zinc-binding.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCCTCCATACGAAAGCACTGT	0.388000													49	9					0	0	0.003610	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246996	47246996	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:47246996A>G	ENST00000300404.2	+	11	1666	c.1607A>G	c.(1606-1608)aAg>aGg	p.K536R	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.K450R|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.K476R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	536					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GCCCTAGAGAAGACCTACAAT	0.547000													14	168					0	0	0.001855	0	0
RAD9A	5883	broad.mit.edu	37	11	67164708	67164708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:67164708G>A	ENST00000307980.2	+	10	1024	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	311	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GATCGCCATGGAAACCACTAT	0.612000								Other conserved DNA damage response genes					7	21					0	0	0.003080	0	0
PRB2	653247	broad.mit.edu	37	12	11546267	11546267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:11546267C>T	ENST00000389362.4	-	3	780	c.745G>A	c.(745-747)Gga>Aga	p.G249R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGTTGCCTCCTTGTGGGGGT	0.607000													41	78					0	0	0.003610	0	0
AAR2	25980	broad.mit.edu	37	20	34832831	34832831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:34832831C>T	ENST00000373932.3	+	3	1316	c.970C>T	c.(970-972)Ctc>Ttc	p.L324F	AAR2_ENST00000397286.3_Missense_Mutation_p.L324F|AAR2_ENST00000320849.4_Missense_Mutation_p.L324F	NM_015511.3	NP_056326.2			AAR2 splicing factor homolog (S. cerevisiae)																		AGACAACTTCCTCACCAGCAC	0.493000													19	47					0	0	0.001882	0	0
BCL9	607	broad.mit.edu	37	1	147087640	147087640	+	Missense_Mutation	SNP	A	A	G	rs139276872		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:147087640A>G	ENST00000234739.3	+	7	1338	c.598A>G	c.(598-600)Atc>Gtc	p.I200V	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	200					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTTGAAACTATCGTCTCTTT	0.408000			T	"""IGH@, IGL@"""	B-ALL								62	52					0	0	0.003610	0	0
MROH2B	133558	broad.mit.edu	37	5	41052635	41052635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41052635C>T	ENST00000399564.4	-	12	1612	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCCCGAGCTTCAATATAGGAC	0.408000													31	37					0	0	0.001512	0	0
GLB1L2	89944	broad.mit.edu	37	11	134241693	134241693	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:134241693C>T	ENST00000535456.2	+	15	1664	c.1476C>T	c.(1474-1476)aaC>aaT	p.N492N	GLB1L2_ENST00000339772.7_Silent_p.N492N|GLB1L2_ENST00000389881.3_Silent_p.N492N|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	492					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCGAGTCAACTATGGGGAGA	0.547000													23	29					0	0	0.001271	0	0
ZFP42	132625	broad.mit.edu	37	4	188924607	188924607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:188924607G>A	ENST00000326866.4	+	4	1054	c.646G>A	c.(646-648)Gac>Aac	p.D216N	ZFP42_ENST00000509524.1_Missense_Mutation_p.D216N	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	216					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGGTCCCCGAGACCACGTCTG	0.502000													35	60					0	0	0.001287	0	0
PLCG1	5335	broad.mit.edu	37	20	39793702	39793702	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:39793702C>T	ENST00000373272.2	+	13	1752	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	PLCG1_ENST00000373271.1_Silent_p.L449L|PLCG1_ENST00000244007.3_Silent_p.L449L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	449	PI-PLC X-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CCGACGGGCTCCCCTCACCCA	0.592000													19	17					0	0	0.001523	0	0
USH1C	10083	broad.mit.edu	37	11	17542924	17542924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17542924C>T	ENST00000005226.7	-	13	1053	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	USH1C_ENST00000527720.1_Missense_Mutation_p.E321K|USH1C_ENST00000527020.1_Missense_Mutation_p.E333K|USH1C_ENST00000318024.4_Missense_Mutation_p.E352K	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	352					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTCTCATTTTCCTCTGCTGCC	0.493000													40	59					0	0	0.002222	0	0
GPR101	83550	broad.mit.edu	37	X	136112601	136112601	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:136112601G>A	ENST00000298110.1	-	1	1232	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	411						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGGGCCCCAGGGATAGCACAT	0.522000													8	7					0	0	0.004482	0	0
XKR7	343702	broad.mit.edu	37	20	30556335	30556335	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30556335C>A	ENST00000217299.3	+	1	531	c.357C>A	c.(355-357)ccC>ccA	p.P119P		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	119						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ACTCGGAGCCCGCAGGGTCCC	0.647000													7	10					0.00198382	0.00368579	0.001984	1	0
PAK3	5063	broad.mit.edu	37	X	110435809	110435809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:110435809G>A	ENST00000519681.1	+	14	1460	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	PAK3_ENST00000518291.1_Missense_Mutation_p.E355K|PAK3_ENST00000425146.1_Missense_Mutation_p.E319K|PAK3_ENST00000360648.4_Missense_Mutation_p.E355K|PAK3_ENST00000446737.1_Missense_Mutation_p.E319K|PAK3_ENST00000372010.1_Missense_Mutation_p.E334K|PAK3_ENST00000262836.4_Missense_Mutation_p.E334K|PAK3_ENST00000372007.4_Missense_Mutation_p.E319K|PAK3_ENST00000417227.1_Missense_Mutation_p.E340K			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	334	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GGTCATGAGGGAAAATAAGAA	0.308000										TSP Lung(19;0.15)			18	1					0	0	0.001216	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366631	7366631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7366631G>A	ENST00000311403.4	-	4	2009	c.1670C>T	c.(1669-1671)gCc>gTc	p.A557V	ZBTB4_ENST00000380599.4_Missense_Mutation_p.A557V	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCGGCCCTTGGCCTCCTCCGT	0.701000													7	2					0	0	0.001984	0	0
ATN1	1822	broad.mit.edu	37	12	7047681	7047681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7047681C>T	ENST00000356654.4	+	7	2792	c.2555C>T	c.(2554-2556)cCa>cTa	p.P852L	ATN1_ENST00000396684.2_Missense_Mutation_p.P852L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	852					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.P852Q(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTGGAATGCCCATCTCTGGGC	0.592000											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	12					0	0	0.003163	0	0
CYP3A5	1577	broad.mit.edu	37	7	99273833	99273833	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99273833T>C	ENST00000343703.5	-	3	428		c.e3-2		CYP3A5_ENST00000480723.1_Splice_Site|CYP3A5_ENST00000222982.4_Splice_Site|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Splice_Site					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GTCCCATATCTACAAAGTGAA	0.463000													32	25					0	0	0.002445	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555292	44555292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:44555292C>T	ENST00000330682.2	-	1	1157	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	308	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AAAGCAGCTTCCTCCTGGAGC	0.637000													25	418					0	0	0.001271	0	0
KCNK10	54207	broad.mit.edu	37	14	88652128	88652128	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:88652128C>T	ENST00000340700.5	-	7	1819	c.1368G>A	c.(1366-1368)agG>agA	p.R456R	KCNK10_ENST00000319231.5_Silent_p.R461R|KCNK10_ENST00000312350.5_Silent_p.R461R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	456					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCTTGTTTTTCCTCTTGGTGA	0.537000													78	14					0	0	0.003610	0	0
MAGI2	9863	broad.mit.edu	37	7	77789561	77789561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:77789561G>A	ENST00000354212.4	-	16	2879	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S	MAGI2_ENST00000522391.1_Missense_Mutation_p.P876S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P862S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	876						cell junction|synapse|synaptosome	phosphatase binding	p.P876S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACAGAGCCTGGACTTCTCCCG	0.532000													35	20					0	0	0.001287	0	0
PEX16	9409	broad.mit.edu	37	11	45935740	45935740	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:45935740G>A	ENST00000532681.1	-	8	1287	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	PEX16_ENST00000378750.5_Silent_p.L237L|PEX16_ENST00000241041.3_Silent_p.L237L|PEX16_ENST00000532554.1_5'UTR			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	237					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGACCCCACAGGCCCAGGCTG	0.642000													5	7					0	0	0.000602	0	0
OR4M1	441670	broad.mit.edu	37	14	20249364	20249364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20249364G>A	ENST00000315957.4	+	1	964	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGAAACAAGGAAGTAAAGGC	0.358000													17	28					0	0	0.006122	0	0
MSGN1	343930	broad.mit.edu	37	2	17997860	17997860	+	Silent	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:17997860T>G	ENST00000281047.3	+	1	98	c.75T>G	c.(73-75)tcT>tcG	p.S25S		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	25					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCTGCTGTCTTCCTGGGACT	0.597000													23	39					0	0	0.002780	0	0
VCAN	1462	broad.mit.edu	37	5	82838036	82838036	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:82838036C>T	ENST00000265077.3	+	8	9779	c.9214C>T	c.(9214-9216)Ctg>Ttg	p.L3072L	VCAN_ENST00000343200.5_Silent_p.L2085L|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3072	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACAGATTTCCTGATTGGCAT	0.408000													26	17					0	0	0.003330	0	0
ALK	238	broad.mit.edu	37	2	29543716	29543716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29543716C>T	ENST00000389048.3	-	7	2353	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	483	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AAGCCATCTTCAAAGTTGCAG	0.522000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				58	49					0	0	0.003610	0	0
PDGFRA	5156	broad.mit.edu	37	4	55151583	55151583	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:55151583T>C	ENST00000257290.5	+	17	2700	c.2369T>C	c.(2368-2370)cTt>cCt	p.L790P	FIP1L1_ENST00000507166.1_Missense_Mutation_p.L550P	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	790	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCAGAAGGCCTTACTTTATTG	0.398000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			36	50					0	0	0.001706	0	0
CCDC129	223075	broad.mit.edu	37	7	31617667	31617667	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:31617667G>A	ENST00000409210.1	+	6	697	c.513G>A	c.(511-513)caG>caA	p.Q171Q	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Silent_p.Q263Q|CCDC129_ENST00000451887.2_Silent_p.Q289Q			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	263										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTTCCAAACAGAACATCAGGC	0.468000													10	21					0	0	0.000978	0	0
MYH15	22989	broad.mit.edu	37	3	108219037	108219037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108219037C>T	ENST00000273353.3	-	5	540	c.484G>A	c.(484-486)Ggg>Agg	p.G162R		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	162	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CGCCTCTTCCCTTTGTAGGCG	0.473000													18	20					0	0	0.000958	0	0
DUOX2	50506	broad.mit.edu	37	15	45389917	45389917	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:45389917G>A	ENST00000389039.6	-	28	3973	c.3588C>T	c.(3586-3588)ctC>ctT	p.L1196L	DUOX2_ENST00000603300.1_Silent_p.L1196L			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1196	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCAGGACCAGGAGCAGAAGCA	0.582000													23	42					0	0	0.005443	0	0
GEM	2669	broad.mit.edu	37	8	95262778	95262778	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:95262778G>A	ENST00000297596.2	-	5	915	c.651C>T	c.(649-651)ttC>ttT	p.F217F	GEM_ENST00000396194.2_Silent_p.F217F	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	217					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGGTCTCGATGAACTTGCAGT	0.547000													23	18					0	0	0.002299	0	0
BRINP3	339479	broad.mit.edu	37	1	190067466	190067466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:190067466C>T	ENST00000367462.3	-	8	2214	c.1983G>A	c.(1981-1983)atG>atA	p.M661I	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.M559I	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		661						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)					TATTGATTTTCATATAGCCCA	0.453000													33	83					0	0	0.002445	0	0
CACNB2	783	broad.mit.edu	37	10	18439852	18439852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:18439852G>A	ENST00000282343.8	+	2	299	c.77G>A	c.(76-78)gGa>gAa	p.G26E	CACNB2_ENST00000352115.6_Missense_Mutation_p.G54E|CACNB2_ENST00000377328.1_Missense_Mutation_p.G54E|CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000324631.7_Missense_Mutation_p.G54E|CACNB2_ENST00000377331.2_Missense_Mutation_p.G26E	NM_001167945.1|NM_201571.3	NP_001161417.1|NP_963865.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	54					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATTTAAAGGATCTGATGGA	0.303000													34	67					0	0	0.002836	0	0
PSG4	5672	broad.mit.edu	37	19	43699171	43699171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43699171C>T	ENST00000405312.3	-	4	1201	c.964G>A	c.(964-966)Gac>Aac	p.D322N	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.D229N	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	322	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTGACTGGGTCACTGCGGATG	0.488000													34	63					0	0	0.003271	0	0
OR10T2	128360	broad.mit.edu	37	1	158368795	158368795	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158368795G>A	ENST00000334438.1	-	1	461	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAGCAATAAAGAAACCTGTGG	0.453000													45	34					0	0	0.003214	0	0
SHANK2	22941	broad.mit.edu	37	11	70331836	70331836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:70331836G>A	ENST00000338508.4	-	32	4564	c.4565C>T	c.(4564-4566)tCc>tTc	p.S1522F	SHANK2_ENST00000423696.2_Missense_Mutation_p.S1142F|SHANK2_ENST00000449833.2_Missense_Mutation_p.S926F|SHANK2_ENST00000409161.1_Missense_Mutation_p.S925F			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1142					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCCACCTTCGGAAGACAGGGT	0.552000													27	28					0	0	0.001061	0	0
DNAH5	1767	broad.mit.edu	37	5	13786458	13786458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13786458C>T	ENST00000265104.4	-	52	8754	c.8650G>A	c.(8650-8652)Gaa>Aaa	p.E2884K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2884					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)					TCAGATGTTTCACCTTTGGTG	0.358000									Kartagener syndrome				32	25					0	0	0.003755	0	0
DNAH10	196385	broad.mit.edu	37	12	124272467	124272467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124272467G>A	ENST00000409039.3	+	10	1380	c.1355G>A	c.(1354-1356)cGg>cAg	p.R452Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	452	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGGGAAGATCGGTGGGAGTTT	0.582000													8	5					0	0	0.003080	0	0
CLCA4	22802	broad.mit.edu	37	1	87045722	87045722	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87045722G>A	ENST00000370563.3	+	14	2496	c.2454G>A	c.(2452-2454)aaG>aaA	p.K818K	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	818						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)		TGTCACCAAAGGAGGCCAACT	0.338000													33	37					0	0	0.002445	0	0
BTNL8	79908	broad.mit.edu	37	5	180374560	180374560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:180374560G>A	ENST00000231229.4	+	4	956	c.722G>A	c.(721-723)gGa>gAa	p.G241E	BTNL8_ENST00000533815.2_Missense_Mutation_p.G57E|BTNL8_ENST00000508408.1_Missense_Mutation_p.G241E|BTNL8_ENST00000505126.1_Missense_Mutation_p.G34E|BTNL8_ENST00000400707.3_Missense_Mutation_p.G116E|BTNL8_ENST00000511704.1_Missense_Mutation_p.G125E|BTNL8_ENST00000340184.4_Missense_Mutation_p.G241E	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	241						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGTACTGGGAATACTCTGC	0.428000													108	34					0	0	0.003610	0	0
LOC440040	440040	broad.mit.edu	37	11	49805495	49805495	+	RNA	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:49805495T>G	ENST00000527477.1	+	0	1183																											GATAAGCTGCTGAAGAAGCTC	0.532000													12	10					0	0	0.004007	0	0
LRRC15	131578	broad.mit.edu	37	3	194080236	194080236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:194080236C>T	ENST00000347624.3	-	2	1622	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	LRRC15_ENST00000428839.1_Missense_Mutation_p.E519K|LRRC15_ENST00000439944.2_Missense_Mutation_p.E519K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	513						integral to membrane		p.E513I(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GTGTAGTCTTCCACAGGGCTG	0.557000													14	18					0	0	0.002450	0	0
FAM53B	9679	broad.mit.edu	37	10	126355985	126355985	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:126355985G>T	ENST00000280780.6	-	5	1341	c.911C>A	c.(910-912)gCc>gAc	p.A304D	FAM53B_ENST00000337318.3_Intron|RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Intron			Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	0										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)		tcctcatggggctatctggag	0.498000													6	7					0.000157383	0.00029321	0.003080	1	0
CSMD2	114784	broad.mit.edu	37	1	34276439	34276439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:34276439C>T	ENST00000373381.4	-	10	1527	c.1351G>A	c.(1351-1353)Ggc>Agc	p.G451S	CSMD2_ENST00000338325.1_Missense_Mutation_p.G8S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	411	CUB 3.					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)				CCCGAGGGGCCTCGAAGGTGG	0.537000													40	61					0	0	0.002852	0	0
DNAH5	1767	broad.mit.edu	37	5	13923485	13923485	+	Silent	SNP	G	G	A	rs145920072	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13923485G>A	ENST00000265104.4	-	4	446	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	114	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)					CCTCGGTCACGAACACCTTAG	0.433000									Kartagener syndrome				40	69					0	0	0.001287	0	0
TJP3	27134	broad.mit.edu	37	19	3730372	3730372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3730372G>A	ENST00000541714.2	+	5	743	c.281G>A	c.(280-282)aGg>aAg	p.R94K	TJP3_ENST00000587686.1_Missense_Mutation_p.R113K|TJP3_ENST00000382008.3_Missense_Mutation_p.R94K|TJP3_ENST00000262968.9_Missense_Mutation_p.R113K|TJP3_ENST00000539908.2_Missense_Mutation_p.R58K|TJP3_ENST00000589378.1_Missense_Mutation_p.R103K	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	94						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCCCCGGAGGATCCACCTG	0.692000													4	5					0	0	0.000248	0	0
TRPC1	7220	broad.mit.edu	37	3	142496493	142496493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:142496493C>T	ENST00000273482.6	+	4	941	c.550C>T	c.(550-552)Cga>Tga	p.R184*	TRPC1_ENST00000476941.1_Nonsense_Mutation_p.R218*	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	218					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGATATATATCGATGTTTGGC	0.303000													16	28					0	0	0.004007	0	0
ZFP69B	65243	broad.mit.edu	37	1	40928601	40928601	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:40928601C>T	ENST00000411995.2	+	6	1320	c.945C>T	c.(943-945)gcC>gcT	p.A315A	ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Silent_p.A213A	NM_023070.2	NP_075558.2			ZFP69 zinc finger protein B																		GTGGAAAAGCCTTTAGCCAAA	0.383000													29	35					0	0	0.001786	0	0
GOT1L1	137362	broad.mit.edu	37	8	37794896	37794896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:37794896C>T	ENST00000307599.4	-	4	517	c.418G>A	c.(418-420)Gga>Aga	p.G140R		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	140					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			AAGACGAGTCCATGCAGTTCT	0.537000													5	1					0	0	0.001168	0	0
ZFP14	57677	broad.mit.edu	37	19	36831947	36831947	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36831947A>G	ENST00000270001.7	-	5	896	c.781T>C	c.(781-783)Tgt>Cgt	p.C261R		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	261					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)					GCCTTTCCACATTCCTTACAT	0.433000													21	38					0	0	0.001882	0	0
NFATC1	4772	broad.mit.edu	37	18	77171144	77171144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:77171144C>T	ENST00000253506.5	+	2	1238	c.869C>T	c.(868-870)tCc>tTc	p.S290F	NFATC1_ENST00000329101.4_Missense_Mutation_p.S277F|NFATC1_ENST00000427363.2_Missense_Mutation_p.S290F|NFATC1_ENST00000542384.1_Missense_Mutation_p.S290F|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.S290F|NFATC1_ENST00000592223.1_Missense_Mutation_p.S277F|NFATC1_ENST00000591814.1_Missense_Mutation_p.S290F|NFATC1_ENST00000586434.1_Missense_Mutation_p.S277F|NFATC1_ENST00000318065.5_Missense_Mutation_p.S277F|NFATC1_ENST00000545796.1_Intron	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	290	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGCACGGCTCCCCGCGGGTC	0.687000													13	13					0	0	0.001855	0	0
CTDP1	9150	broad.mit.edu	37	18	77474635	77474635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:77474635C>T	ENST00000299543.7	+	8	1322	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L	CTDP1_ENST00000075430.7_Missense_Mutation_p.P392L	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	392					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		GCCGCCACCCCGCGGGACTCA	0.716000													6	8					0	0	0.003080	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22362746	22362746	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22362746C>T	ENST00000390438.2	+	0	134																											CAGCCATGCTCCTGCTGCTCG	0.537000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	28					0	0	0.001855	0	0
OR4F21	441308	broad.mit.edu	37	8	116933	116933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:116933G>A	ENST00000320901.3	-	1	110	c.92C>T	c.(91-93)tCc>tTc	p.S31F		NM_001005504.1	NP_001005504.1	O95013	O4F21_HUMAN	olfactory receptor, family 4, subfamily F, member 21	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						all_cancers(2;8.42e-24)|all_epithelial(2;5.38e-15)|Lung NSC(2;2.68e-06)|all_lung(2;5.05e-06)|Ovarian(12;0.0731)|Colorectal(14;0.0785)|all_hematologic(2;0.157)|Myeloproliferative disorder(644;0.185)|all_neural(12;0.186)|Acute lymphoblastic leukemia(644;0.244)		Epithelial(5;5.01e-18)|all cancers(2;6.06e-17)|OV - Ovarian serous cystadenocarcinoma(5;8.27e-09)|BRCA - Breast invasive adenocarcinoma(11;1.63e-06)|Colorectal(2;5.31e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0649)		GAGCACAGAGGAAAACACTAG	0.473000													178	14					0	0	0.003610	0	0
MARCO	8685	broad.mit.edu	37	2	119727733	119727733	+	Silent	SNP	C	C	T	rs75633112		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:119727733C>T	ENST00000541757.1	+	4	389	c.9C>T	c.(7-9)ttC>ttT	p.F3F	MARCO_ENST00000327097.4_Silent_p.F81F			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	81					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGATGTATTTCCTCAATGACA	0.582000													21	37					0	0	0.005443	0	0
NTRK1	4914	broad.mit.edu	37	1	156851296	156851296	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156851296C>T	ENST00000368196.3	+	16	2355	c.2235C>T	c.(2233-2235)gcC>gcT	p.A745A	NTRK1_ENST00000531606.1_3'UTR|NTRK1_ENST00000392302.2_Silent_p.A715A|NTRK1_ENST00000358660.3_Silent_p.A748A|NTRK1_ENST00000524377.1_Silent_p.A751A	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	751	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGCCACGTGCCTGCCCACCAG	0.662000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			8	3					0	0	0.004482	0	0
CMTR1	23070	broad.mit.edu	37	6	37442305	37442305	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:37442305C>T	ENST00000373451.4	+	18	1991	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		609					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						TGTAGAAATCCCAGATCTACA	0.507000													15	23					0	0	0.000958	0	0
ANKRD1	27063	broad.mit.edu	37	10	92675338	92675338	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:92675338G>A	ENST00000371697.3	-	8	1059	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	271					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TACATAATCAGGAGTCGGATC	0.468000													20	24					0	0	0.003330	0	0
SLC15A1	6564	broad.mit.edu	37	13	99337053	99337053	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:99337053C>T	ENST00000376503.5	-	23	2107	c.2052G>A	c.(2050-2052)gaG>gaA	p.E684E		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	684					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TCTTTTCATCCTCATCAAATT	0.448000													26	3					0	0	0.005443	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515107	233515107	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:233515107G>A	ENST00000366624.3	+	9	2616	c.2355G>A	c.(2353-2355)ggG>ggA	p.G785G	MLK4_ENST00000366622.1_Silent_p.G231G	NM_032435.2	NP_115811.2																					CCACCTGTGGGGAGGCCAGCA	0.597000													17	43					0	0	0.006122	0	0
ADAP2	55803	broad.mit.edu	37	17	29283361	29283361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:29283361G>A	ENST00000330889.3	+	10	1320	c.985G>A	c.(985-987)Gga>Aga	p.G329R	ADAP2_ENST00000580525.1_Missense_Mutation_p.G335R|AC091177.1_ENST00000442757.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	329	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CTGGAAAGCCGGACTCACCAT	0.562000													30	10					0	0	0.001271	0	0
FAT3	120114	broad.mit.edu	37	11	92085336	92085336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92085336C>T	ENST00000298047.6	+	1	75	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	FAT3_ENST00000541502.1_Missense_Mutation_p.L20F|FAT3_ENST00000409404.2_Missense_Mutation_p.L20F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	20					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTGCCTCATCCTCCTGCTTTT	0.507000										TCGA Ovarian(4;0.039)			190	286					0	0	0.003610	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590111	141590111	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:141590111G>A	ENST00000442267.2	-	9	1622	c.1548C>T	c.(1546-1548)atC>atT	p.I516I		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	516	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGCTCTCCGGGATGCCCTTCA	0.587000													12	15					0	0	0.001855	0	0
CSRNP2	81566	broad.mit.edu	37	12	51457690	51457690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:51457690G>A	ENST00000228515.1	-	5	1768	c.1471C>T	c.(1471-1473)Cct>Tct	p.P491S		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	491					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GGCTCCTCAGGGTTACAATCT	0.557000													31	66					0	0	0.004289	0	0
NCOA6	23054	broad.mit.edu	37	20	33345550	33345550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33345550G>A	ENST00000374796.2	-	8	3571	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	NCOA6_ENST00000359003.2_Missense_Mutation_p.S334F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	334	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTGCCCAGAGAACCCTGGGC	0.587000													54	31					0	0	0.003610	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55063165	55063165	+	RNA	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55063165T>A	ENST00000526016.1	-	0	472					NR_038174.2																						ACTCACATAATCCTGCAGTGA	0.353000													6	9					0	0	0.001168	0	0
MAGI1	9223	broad.mit.edu	37	3	65365218	65365218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:65365218C>T	ENST00000330909.8	-	18	2796	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K	MAGI1_ENST00000402939.2_Missense_Mutation_p.E905K|MAGI1_ENST00000497477.2_Missense_Mutation_p.E905K|MAGI1_ENST00000483466.1_Missense_Mutation_p.E933K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	933					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACCTCGTTCTCGGTTTTGGGC	0.617000													33	55					0	0	0.004289	0	0
ADH4	127	broad.mit.edu	37	4	100047751	100047751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:100047751C>T	ENST00000508393.1	-	9	1334	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	ADH4_ENST00000423445.1_Missense_Mutation_p.G390E|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Missense_Mutation_p.G371E|ADH4_ENST00000505590.1_Missense_Mutation_p.G390E			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	371					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GTACCTTTTTCCTTGGTTCAT	0.343000													27	53					0	0	0.002096	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846528	228846528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228846528C>T	ENST00000392056.3	-	12	5054	c.5008G>A	c.(5008-5010)Gat>Aat	p.D1670N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1641N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1670						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGAAGATATCACCCACTTTC	0.478000													25	27					0	0	0.005443	0	0
COL22A1	169044	broad.mit.edu	37	8	139628251	139628251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139628251C>T	ENST00000303045.6	-	55	4363	c.3917G>A	c.(3916-3918)gGa>gAa	p.G1306E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1286E|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1306	Collagen-like 12.|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)			TACATCTTTTCCTGGTAACCC	0.567000										HNSCC(7;0.00092)			14	24					0	0	0.004007	0	0
OR56B4	196335	broad.mit.edu	37	11	6129543	6129543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6129543G>A	ENST00000316529.3	+	1	630	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCAGGAATGAAATCGAGCA	0.483000													50	61					0	0	0.003610	0	0
CCDC87	55231	broad.mit.edu	37	11	66358741	66358741	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:66358741G>A	ENST00000333861.3	-	1	1813	c.1746C>T	c.(1744-1746)gcC>gcT	p.A582A		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	582										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TCATCAAGGAGGCCTTGTTTG	0.453000													33	58					0	0	0.003271	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796439	69796439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69796439C>T	ENST00000251566.4	-	5	1159	c.1129G>A	c.(1129-1131)Ggg>Agg	p.G377R	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G88R	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	377						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCATAGATCCCATTCATTCCA	0.388000													18	24					0	0	0.006122	0	0
TOLLIP	54472	broad.mit.edu	37	11	1311530	1311530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1311530G>A	ENST00000527886.1	-	3	466	c.86C>T	c.(85-87)cCc>cTc	p.P29L	TOLLIP_ENST00000542915.1_Missense_Mutation_p.P48L|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000528719.1_5'UTR|TOLLIP_ENST00000263646.7_Missense_Mutation_p.P70L|TOLLIP_ENST00000525159.1_Intron|TOLLIP_ENST00000317204.6_Missense_Mutation_p.P98L			Q9H0E2	TOLIP_HUMAN	toll interacting protein	98	Gln-rich.				cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		ATTCCAGCGGGGATTCTTGGC	0.597000													9	16					0	0	0.000443	0	0
CCDC140	151278	broad.mit.edu	37	2	223168963	223168963	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:223168963C>T	ENST00000295226.1	+	2	726	c.342C>T	c.(340-342)tcC>tcT	p.S114S		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	114										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGCACAGTCCACAGACCCCG	0.602000													9	16					0	0	0.000673	0	0
LTK	4058	broad.mit.edu	37	15	41797934	41797934	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:41797934G>A	ENST00000263800.6	-	13	1770	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	LTK_ENST00000561619.1_Silent_p.F256F|LTK_ENST00000453182.2_Silent_p.F428F|LTK_ENST00000355166.5_Silent_p.F497F	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	558	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CCTCCATGAGGAAATCCAGCT	0.612000										TSP Lung(18;0.14)			11	13					0	0	0.000978	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629397	9629397	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:9629397G>A	ENST00000382492.2	-	1	1066	c.748C>T	c.(748-750)Cta>Tta	p.L250L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	250					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TGAAACTTTAGAGAAGAGAGA	0.433000													22	55					0	0	0.001882	0	0
TUBG2	27175	broad.mit.edu	37	17	40811958	40811958	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:40811958C>T	ENST00000251412.7	+	2	355	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	52					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		ACGTCTTTTTCTACCAGGTGC	0.657000													53	3					0	0	0.003610	0	0
SRGAP3	9901	broad.mit.edu	37	3	9094804	9094804	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9094804G>A	ENST00000383836.3	-	9	1657	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Silent_p.S410S	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	410					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGACTTGACGGACTCTGTCG	0.488000			T	RAF1	pilocytic astrocytoma								12	25					0	0	0.000978	0	0
LAMC3	10319	broad.mit.edu	37	9	133901756	133901756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:133901756C>T	ENST00000361069.4	+	2	591	c.458C>T	c.(457-459)gCc>gTc	p.A153V	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	153	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGCAGCCGCGCCGACGGCCCA	0.642000													35	3					0	0	0.004878	0	0
SGCZ	137868	broad.mit.edu	37	8	14412322	14412322	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:14412322G>A	ENST00000382080.1	-	2	868	c.153C>T	c.(151-153)ttC>ttT	p.F51F	SGCZ_ENST00000421524.2_Silent_p.F38F	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	38					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GAAGGACAAAGAAGTATAAGC	0.383000													108	20					0	0	0.003610	0	0
TJP1	7082	broad.mit.edu	37	15	30012097	30012097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:30012097G>A	ENST00000346128.6	-	20	3361	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S	TJP1_ENST00000545208.2_Intron|TJP1_ENST00000356107.6_Missense_Mutation_p.P963S|TJP1_ENST00000400011.2_Intron	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	963					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAGGTGGAAGGAGCTGGGGTG	0.448000													34	62					0	0	0.003271	0	0
ZNF578	147660	broad.mit.edu	37	19	53014946	53014946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:53014946C>T	ENST00000421239.2	+	6	1556	c.1312C>T	c.(1312-1314)Cat>Tat	p.H438Y	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H438Y(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGCTTTTATTCATCAGTCAAG	0.383000													39	60					0	0	0.004878	0	0
SLC6A13	6540	broad.mit.edu	37	12	344366	344366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:344366G>A	ENST00000343164.4	-	7	773	c.721C>T	c.(721-723)Cct>Tct	p.P241S	SLC6A13_ENST00000445055.2_Missense_Mutation_p.P149S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	241					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ATGAGGTAAGGAAATGTGGCC	0.562000													12	9					0	0	0.002450	0	0
EPHA2	1969	broad.mit.edu	37	1	16458581	16458581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:16458581G>A	ENST00000358432.5	-	13	2457	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	768	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGTGGCCTCGGGGTCGTCCTC	0.622000													28	33					0	0	0.001786	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799843	159799843	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159799843C>T	ENST00000289707.5	+	2	377	c.228C>T	c.(226-228)ttC>ttT	p.F76F	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	76						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ATTCCCGCTTCCTGGGCCGAG	0.607000													66	48					0	0	0.003610	0	0
ZNF527	84503	broad.mit.edu	37	19	37879669	37879669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:37879669C>T	ENST00000436120.2	+	5	825	c.718C>T	c.(718-720)Cct>Tct	p.P240S	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATAGGAATTCCTCCTGGGGA	0.343000													32	66					0	0	0.002445	0	0
ZFP42	132625	broad.mit.edu	37	4	188924676	188924676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:188924676C>T	ENST00000326866.4	+	4	1123	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	ZFP42_ENST00000509524.1_Missense_Mutation_p.H239Y	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	239					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TTTCCTGGTTCATACTGGAGA	0.517000													29	25					0	0	0.001512	0	0
PTER	9317	broad.mit.edu	37	10	16528519	16528519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:16528519C>T	ENST00000378000.1	+	4	847	c.601C>T	c.(601-603)Cat>Tat	p.H201Y	PTER_ENST00000535784.2_Missense_Mutation_p.H201Y|PTER_ENST00000423462.2_Missense_Mutation_p.H201Y|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000298942.3_Missense_Mutation_p.H201Y	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	201					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TGTTATTATCCATCCTGGACG	0.498000													30	43					0	0	0.001786	0	0
FRMPD3	84443	broad.mit.edu	37	X	106840597	106840597	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:106840597G>A	ENST00000276185.4	+	15	1587	c.1587G>A	c.(1585-1587)ggG>ggA	p.G529G				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	529						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GCCACCTGGGGAAAAAGGAGA	0.582000													29	7					0	0	0.001512	0	0
FBXL13	222235	broad.mit.edu	37	7	102604101	102604101	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:102604101G>A	ENST00000393772.2	-	8	1029	c.603C>T	c.(601-603)tcC>tcT	p.S201S	FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000456695.1_Silent_p.S201S|FBXL13_ENST00000455112.2_Silent_p.S201S|FBXL13_ENST00000436908.1_Silent_p.S201S|FBXL13_ENST00000379305.3_Silent_p.S201S|FBXL13_ENST00000379306.3_Silent_p.S201S|FBXL13_ENST00000379308.3_Silent_p.S201S|FBXL13_ENST00000313221.4_Silent_p.S201S			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	201										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTTTCACTGAGGAAAAATCAA	0.323000													24	75					0	0	0.003954	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817373	45817373	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:45817373G>A	ENST00000358525.4	-	4	577	c.462C>T	c.(460-462)ctC>ctT	p.L154L	SLC6A20_ENST00000456124.2_Silent_p.L154L|SLC6A20_ENST00000353278.4_Silent_p.L154L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	154					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCGAGATATTGAGGGTTTTCC	0.607000													27	45					0	0	0.001271	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959365	45959365	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:45959365G>A	ENST00000400375.1	-	1	713	c.669C>T	c.(667-669)acC>acT	p.T223T	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	223	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						TGCAGCAGGAGGTGGTGCAGC	0.657000													7	62					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179629430	179629430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179629430G>A	ENST00000589042.1	-	42	10036	c.9812C>T	c.(9811-9813)tCc>tTc	p.S3271F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S3271F|TTN_ENST00000460472.2_Missense_Mutation_p.S3225F|TTN_ENST00000591111.1_Missense_Mutation_p.S3271F|TTN_ENST00000359218.5_Missense_Mutation_p.S3225F|TTN_ENST00000342992.6_Missense_Mutation_p.S3271F|TTN_ENST00000342175.6_Missense_Mutation_p.S3225F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3000	Ig-like 19.						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)			CTTGTACCAGGAAATTTTGGG	0.527000													41	52					0	0	0.001951	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723328	58723328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:58723328G>A	ENST00000300079.5	+	7	880	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.R246Q	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	246						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AACATGGCACGAGTGATGGTG	0.478000													14	20					0	0	0.002450	0	0
LDB2	9079	broad.mit.edu	37	4	16597476	16597476	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:16597476G>A	ENST00000502640.1	-	3	406	c.258C>T	c.(256-258)ccC>ccT	p.P86P	LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000441778.2_Silent_p.P86P|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000304523.5_Silent_p.P86P|LDB2_ENST00000515064.1_Silent_p.P86P			O43679	LDB2_HUMAN	LIM domain binding 2	86							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TAAAGTAACGGGGGATGAGGG	0.483000													10	21					0	0	0.000673	0	0
PLCB4	5332	broad.mit.edu	37	20	9353042	9353042	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:9353042C>T	ENST00000378501.2	+	8	693	c.678C>T	c.(676-678)ttC>ttT	p.F226F	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Silent_p.F226F|PLCB4_ENST00000278655.4_Silent_p.F226F|PLCB4_ENST00000378473.3_Silent_p.F226F|PLCB4_ENST00000334005.3_Silent_p.F226F|PLCB4_ENST00000414679.2_Silent_p.F226F	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	226					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAGATCTTTTCAAAAAAATGT	0.313000													18	22					0	0	0.004990	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015921	145015921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:145015921G>A	ENST00000369359.4	-	3	418	c.380C>T	c.(379-381)tCc>tTc	p.S127F	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S56F|PDE4DIP_ENST00000478649.2_Missense_Mutation_p.S56F|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.S127F|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S127F|PDE4DIP_ENST00000493130.2_Missense_Mutation_p.S56F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					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)		TGCTCTCAAGGAATATGTCTG	0.448000			T	PDGFRB	MPD								76	506					0	0	0.003610	0	0
NEB	4703	broad.mit.edu	37	2	152420200	152420200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152420200C>T	ENST00000397345.3	-	119	18815	c.18613G>A	c.(18613-18615)Ggt>Agt	p.G6205S	NEB_ENST00000604864.1_Missense_Mutation_p.G6205S|NEB_ENST00000603639.1_Missense_Mutation_p.G6205S|NEB_ENST00000172853.10_Missense_Mutation_p.G4504S|NEB_ENST00000427231.2_Missense_Mutation_p.G6205S|NEB_ENST00000409198.1_Missense_Mutation_p.G4504S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6191					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGTAGTGACCTTTCTGCTTC	0.438000													97	153					0	0	0.003610	0	0
CASQ1	844	broad.mit.edu	37	1	160165270	160165270	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160165270T>G	ENST00000368079.3	+	5	854	c.579T>G	c.(577-579)gaT>gaG	p.D193E	CASQ1_ENST00000368078.3_Missense_Mutation_p.D199E	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	199						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTCGAGGATGCAGCTGAGG	0.557000													29	52					0	0	0.003755	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789889	6789889	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6789889C>T	ENST00000338569.2	-	1	397	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCAGGAACATCTGAAGTGCAC	0.512000													26	44					0	0	0.001271	0	0
CD109	135228	broad.mit.edu	37	6	74516594	74516594	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:74516594C>T	ENST00000437994.2	+	25	3419	c.2988C>T	c.(2986-2988)ttC>ttT	p.F996F	CD109_ENST00000422508.2_Silent_p.F919F|CD109_ENST00000287097.5_Silent_p.F996F	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	996						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAAGATGTTTCCTTGAAGCCG	0.343000													13	18					0	0	0.004007	0	0
ACSS3	79611	broad.mit.edu	37	12	81647355	81647355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81647355G>A	ENST00000548058.1	+	15	2811	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	ACSS3_ENST00000548324.1_Missense_Mutation_p.R316Q|ACSS3_ENST00000261206.3_Missense_Mutation_p.R633Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	634						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCTGCTTTTCGAAATGCAGTG	0.423000													34	59					0	0	0.002836	0	0
ACOX3	8310	broad.mit.edu	37	4	8390952	8390952	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:8390952G>A	ENST00000356406.5	-	13	1562	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	ACOX3_ENST00000413009.2_Silent_p.I495I|ACOX3_ENST00000503233.1_Silent_p.I495I	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	495					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCTGGTCAAGGATGCCGGGAT	0.547000													15	14					0	0	0.000958	0	0
CCR9	10803	broad.mit.edu	37	3	45942730	45942730	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:45942730G>A	ENST00000357632.2	+	3	630	c.450G>A	c.(448-450)caG>caA	p.Q150Q	CCR9_ENST00000395963.2_Silent_p.Q138Q|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Silent_p.Q138Q	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	150					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CCATTGCCCAGGCCATGAGAG	0.478000													31	33					0	0	0.002445	0	0
STAG1	10274	broad.mit.edu	37	3	136141862	136141862	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:136141862T>C	ENST00000383202.2	-	17	1931	c.1675A>G	c.(1675-1677)Act>Gct	p.T559A	STAG1_ENST00000536929.1_Missense_Mutation_p.T143A|STAG1_ENST00000434713.2_Missense_Mutation_p.T333A|STAG1_ENST00000236698.5_Missense_Mutation_p.T559A	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	559					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCAATTTGAGTTTTCCTTTCT	0.299000													7	12					0	0	0.004482	0	0
SLC30A4	7782	broad.mit.edu	37	15	45777479	45777479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:45777479G>A	ENST00000261867.4	-	8	1486	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	391					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		GTTTGCTTTGGACTGTACTTC	0.363000													11	13					0	0	0.001368	0	0
EGFR	1956	broad.mit.edu	37	7	55259465	55259465	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:55259465G>A	ENST00000275493.2	+	21	2700	c.2523G>A	c.(2521-2523)agG>agA	p.R841R	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.R788R|EGFR_ENST00000455089.1_Silent_p.R796R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	841	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGGCAGCCAGGAACGTACTGG	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			16	54					0	0	0.006122	0	0
NEBL	10529	broad.mit.edu	37	10	21148728	21148728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:21148728C>T	ENST00000377122.4	-	8	1108	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	238					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						TCCTTCATTTCATTATCAAAT	0.299000													16	33					0	0	0.004007	0	0
CST5	1473	broad.mit.edu	37	20	23858212	23858212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:23858212C>T	ENST00000304710.4	-	2	348	c.275G>A	c.(274-276)cGa>cAa	p.R92Q		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	92						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GCATGTGGTTCGACCGAACTT	0.532000													7	50					0	0	0.003080	0	0
TRPC4	7223	broad.mit.edu	37	13	38357417	38357417	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:38357417G>A	ENST00000379705.3	-	2	911	c.54C>T	c.(52-54)atC>atT	p.I18I	TRPC4_ENST00000355779.2_Silent_p.I18I|TRPC4_ENST00000358477.2_Silent_p.I18I|TRPC4_ENST00000338947.5_Silent_p.I18I|TRPC4_ENST00000426868.2_Silent_p.I18I|TRPC4_ENST00000379673.2_Silent_p.I18I|TRPC4_ENST00000379679.1_Silent_p.I18I|TRPC4_ENST00000447043.1_Silent_p.I18I|TRPC4_ENST00000379681.3_Silent_p.I18I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	18					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCCTTAGAGGGATGCGGTCTC	0.403000													58	100					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113332163	113332163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:113332163C>T	ENST00000297405.5	-	46	7457	c.7213G>A	c.(7213-7215)Gaa>Aaa	p.E2405K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E2301K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E2365K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E2335K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2405	Sushi 13.					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						GTCAAAATTTCAGCATTGGGC	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			49	86					0	0	0.003610	0	0
ACSM4	341392	broad.mit.edu	37	12	7463328	7463328	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7463328C>T	ENST00000399422.4	+	3	654	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	202					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GGCTCAGCTTCCAGGAGTTAT	0.478000													10	12					0	0	0.000978	0	0
SCARB2	950	broad.mit.edu	37	4	77087448	77087448	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77087448C>A	ENST00000264896.2	-	10	1543	c.1194G>T	c.(1192-1194)acG>acT	p.T398T	SCARB2_ENST00000452464.2_Silent_p.T255T	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	398					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity	p.T398T(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TAATGTCTCCCGTTTCACTAC	0.428000													6	112					0.00198382	0.00368579	0.001984	1	0
ZNF236	7776	broad.mit.edu	37	18	74639409	74639409	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:74639409C>A	ENST00000253159.8	+	24	4542	c.4344C>A	c.(4342-4344)acC>acA	p.T1448T	ZNF236_ENST00000320610.9_Silent_p.T1450T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1448					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCACAGTGACCTCTGCGAACC	0.557000													15	16					4.14922e-12	7.77282e-12	0.004007	1	0
DNAH10	196385	broad.mit.edu	37	12	124415044	124415044	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124415044C>T	ENST00000409039.3	+	72	12379	c.12354C>T	c.(12352-12354)ttC>ttT	p.F4118F	DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4118					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGATACTTTCCAGCCATTCC	0.458000													9	15					0	0	0.004482	0	0
NLRP12	91662	broad.mit.edu	37	19	54312892	54312892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54312892C>T	ENST00000324134.6	-	3	2189	c.2021G>A	c.(2020-2022)gGg>gAg	p.G674E	NLRP12_ENST00000535162.1_Missense_Mutation_p.G674E|NLRP12_ENST00000345770.5_Missense_Mutation_p.G674E|NLRP12_ENST00000354278.3_Missense_Mutation_p.G674E|NLRP12_ENST00000351894.4_Missense_Mutation_p.G674E|NLRP12_ENST00000391773.1_Missense_Mutation_p.G674E|NLRP12_ENST00000391772.1_Missense_Mutation_p.G674E|NLRP12_ENST00000391775.3_Missense_Mutation_p.G674E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	674					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGGTCTTCCCCGTCCGCGCT	0.612000													11	18					0	0	0.000978	0	0
GSN	2934	broad.mit.edu	37	9	124074640	124074640	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:124074640C>T	ENST00000373823.3	+	13	1442	c.537C>T	c.(535-537)tcC>tcT	p.S179S	GSN_ENST00000373807.1_5'UTR|GSN_ENST00000436847.1_Silent_p.S190S|GSN_ENST00000545652.1_Silent_p.S187S|GSN_ENST00000394353.2_Silent_p.S190S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000412819.1_Silent_p.S179S|GSN_ENST00000373818.4_Silent_p.S230S|GSN_ENST00000449733.1_Silent_p.S179S|GSN_ENST00000373808.2_Silent_p.S179S|GSN_ENST00000341272.2_Silent_p.S179S			P06396	GELS_HUMAN	gelsolin	230					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGTGTGGTTCCAACAGCAATC	0.612000													75	13					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862887	9862887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:9862887C>T	ENST00000396573.2	-	13	2725	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K	GRIN2A_ENST00000330684.3_Missense_Mutation_p.E806K|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E649K|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E806K|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E806K|GRIN2A_ENST00000396575.2_Missense_Mutation_p.E806K	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	806					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)	CTCATCACCTCGTTCTTCTCG	0.562000													24	37					0	0	0.001512	0	0
KIAA0430	9665	broad.mit.edu	37	16	15710936	15710936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:15710936G>A	ENST00000396368.3	-	15	3256	c.3050C>T	c.(3049-3051)aCc>aTc	p.T1017I	KIAA0430_ENST00000602337.1_Missense_Mutation_p.T1014I|KIAA0430_ENST00000551742.1_Missense_Mutation_p.T1017I|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T1014I|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T852I|KIAA0430_ENST00000344181.3_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1016						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GCCCTCGTGGGTCTGGAGAAG	0.453000													27	30					0	0	0.001061	0	0
ZNF623	9831	broad.mit.edu	37	8	144732244	144732244	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144732244C>T	ENST00000501748.2	+	1	291	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	ZNF623_ENST00000458270.2_Silent_p.L28L|ZNF623_ENST00000526926.1_Silent_p.L28L	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGTCAGAGCCTGGGGAGTTC	0.582000													37	33					0	0	0.004878	0	0
TENM3	55714	broad.mit.edu	37	4	183245251	183245251	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:183245251C>T	ENST00000511685.1	+	2	201	c.78C>T	c.(76-78)tcC>tcT	p.S26S	TENM3_ENST00000406950.2_Silent_p.S26S					teneurin transmembrane protein 3																		ACACAAATTCCTCCGCAGACA	0.512000													12	18					0	0	0.001368	0	0
ACKR3	57007	broad.mit.edu	37	2	237489273	237489273	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:237489273C>T	ENST00000272928.3	+	2	475	c.165C>T	c.(163-165)ttC>ttT	p.F55F		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		TTTTCATCTTCGTCATCGGCA	0.522000													4	7					0	0	0.000248	0	0
UNC13C	440279	broad.mit.edu	37	15	54919106	54919106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:54919106G>A	ENST00000545554.1	+	32	6440	c.6440G>A	c.(6439-6441)cGa>cAa	p.R2147Q	UNC13C_ENST00000537900.1_Missense_Mutation_p.R2145Q|UNC13C_ENST00000539562.2_Missense_Mutation_p.R68Q|UNC13C_ENST00000260323.11_Missense_Mutation_p.R2147Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2147	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGAGAAGATCGAATTATCGGA	0.403000													21	31					0	0	0.003330	0	0
ANO4	121601	broad.mit.edu	37	12	101436175	101436175	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:101436175C>T	ENST00000392979.3	+	11	1339	c.978C>T	c.(976-978)ctC>ctT	p.L326L	ANO4_ENST00000392977.3_Silent_p.L361L|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	361						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCGGCATGCTCTTCCCAGCTG	0.493000										HNSCC(74;0.22)			22	37					0	0	0.002299	0	0
DSC2	1824	broad.mit.edu	37	18	28649050	28649050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:28649050C>T	ENST00000280904.6	-	15	2761	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E	DSC2_ENST00000251081.6_Missense_Mutation_p.G773E	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	773					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GATTCCTGATCCCACGGTGCC	0.517000													21	37					0	0	0.001882	0	0
OR51A2	401667	broad.mit.edu	37	11	4976391	4976391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4976391C>T	ENST00000380371.1	-	1	552	c.553G>A	c.(553-555)Gat>Aat	p.D185N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCATGACATCCTGGTGGAGA	0.413000													15	10					0	0	0.002780	0	0
ZNF208	7757	broad.mit.edu	37	19	22154225	22154225	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:22154225T>A	ENST00000397126.4	-	4	3759	c.3611A>T	c.(3610-3612)aAa>aTa	p.K1204I	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)				CTTATAGGCTTTGCCACATTC	0.388000													11	19					0	0	0.001368	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723465	7723465	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:7723465C>T	ENST00000303635.7	+	9	1065	c.858C>T	c.(856-858)atC>atT	p.I286I	CAMTA1_ENST00000439411.2_Silent_p.I286I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACCGCATCATCTCGCCCAAGG	0.632000			T	WWTR1	epitheliod hemangioendothelioma								45	72					0	0	0.003610	0	0
CNTN5	53942	broad.mit.edu	37	11	100064243	100064243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100064243C>T	ENST00000524871.1	+	15	2022	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	CNTN5_ENST00000528682.1_Missense_Mutation_p.P578S|CNTN5_ENST00000527185.1_Missense_Mutation_p.P578S|CNTN5_ENST00000279463.3_Missense_Mutation_p.P578S|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.P504S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	578	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGAACTTACTCCTAAAAGAAC	0.328000													9	13					0	0	0.000443	0	0
CLCN1	1180	broad.mit.edu	37	7	143029883	143029883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143029883C>T	ENST00000343257.2	+	12	1405	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	440					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CGCGGGTGATCCTGAGAGCCT	0.522000													37	83					0	0	0.004878	0	0
BUB1B	701	broad.mit.edu	37	15	40500938	40500938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:40500938C>T	ENST00000287598.6	+	16	2305	c.2110C>T	c.(2110-2112)Cct>Tct	p.P704S	BUB1B_ENST00000412359.3_Missense_Mutation_p.P718S	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	704					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCTTCAAATTCCTGAGAAACT	0.433000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				8	20					0	0	0.000443	0	0
NRCAM	4897	broad.mit.edu	37	7	107807368	107807368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:107807368G>A	ENST00000379028.3	-	30	3934	c.3464C>T	c.(3463-3465)cCa>cTa	p.P1155L	NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.P1155L|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.P1155L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1155					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCCTCACCTGGGCCTGTCTC	0.572000													13	10					0	0	0.003163	0	0
NRSN1	140767	broad.mit.edu	37	6	24145991	24145991	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24145991G>A	ENST00000378491.4	+	4	706	c.405G>A	c.(403-405)ctG>ctA	p.L135L		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	135					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GGTGCCTGCTGATGTCGGTGT	0.493000													26	24					0	0	0.002445	0	0
KCNB2	9312	broad.mit.edu	37	8	73848500	73848500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:73848500C>T	ENST00000523207.1	+	3	1498	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	304					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCAGATCTTCCGAATCATGCG	0.527000													22	42					0	0	0.001523	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629158	1629158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1629158G>A	ENST00000399685.1	-	1	535	c.458C>T	c.(457-459)cCc>cTc	p.P153L		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	153	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGAGCAGCTGGGCTTGCAGCA	0.632000													44	73					0	0	0.002522	0	0
MAPK4	5596	broad.mit.edu	37	18	48252394	48252394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:48252394G>A	ENST00000400384.2	+	5	1952	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	MAPK4_ENST00000540640.1_Missense_Mutation_p.G95R|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	306	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGCTGAGATGGGGCTGCAACA	0.552000													25	31					0	0	0.001061	0	0
CLEC1A	51267	broad.mit.edu	37	12	10223953	10223953	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:10223953T>G	ENST00000315330.4	-	6	884	c.822A>C	c.(820-822)gaA>gaC	p.E274D	CLEC1A_ENST00000457018.2_Missense_Mutation_p.E241D|CLEC1A_ENST00000420265.2_Missense_Mutation_p.E182D	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	274					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CGCCTAATGTTTCAGGGGGGA	0.507000													39	66					0	0	0.002522	0	0
XIRP2	129446	broad.mit.edu	37	2	168101311	168101311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168101311G>A	ENST00000409195.1	+	9	3498	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1137N|XIRP2_ENST00000409273.1_Missense_Mutation_p.D915N|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	962					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						TCAGCCACTTGATACCATAAA	0.388000													27	23					0	0	0.001061	0	0
SOX6	55553	broad.mit.edu	37	11	16071265	16071265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:16071265C>T	ENST00000528252.1	-	10	1538	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	SOX6_ENST00000527619.1_Missense_Mutation_p.E453K|SOX6_ENST00000316399.6_Intron|SOX6_ENST00000396356.3_Intron|SOX6_ENST00000528429.1_Intron|SOX6_ENST00000352083.6_Intron	NM_001145811.1	NP_001139283.1	P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	478					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTACCTAATTCGTAAGTCTCT	0.398000													53	88					0	0	0.003610	0	0
CCDC158	339965	broad.mit.edu	37	4	77303806	77303806	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77303806G>A	ENST00000388914.3	-	7	1023	c.871C>T	c.(871-873)Cga>Tga	p.R291*	CCDC158_ENST00000434846.2_Nonsense_Mutation_p.R291*	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	291										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTTGGCTTCGAGCACTGCTA	0.333000													30	46					0	0	0.002836	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166783	96166783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:96166783C>T	ENST00000315367.3	+	2	752	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.R171C	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	171						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					ACCTGTTAATCGTCGCCACCA	0.488000													232	558					0	0	0.003610	0	0
SYT8	90019	broad.mit.edu	37	11	1858596	1858596	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1858596G>A	ENST00000341958.3	+	8	1401	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Missense_Mutation_p.E381K			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	381						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCAGCCAGGGAGGTGGACCG	0.741000													10	11					0	0	0.000673	0	0
RECQL4	9401	broad.mit.edu	37	8	145741607	145741607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145741607G>A	ENST00000428558.2	-	5	937	c.896C>T	c.(895-897)cCa>cTa	p.P299L	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	299					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGTTCCCCTGGAGGGTCTTC	0.662000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				14	13					0	0	0.001855	0	0
PLXNA4	91584	broad.mit.edu	37	7	131833406	131833406	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:131833406C>T	ENST00000359827.3	-	26	5623		c.e26-1		PLXNA4_ENST00000321063.4_Splice_Site			Q9HCM2	PLXA4_HUMAN	plexin A4							integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCGCCACTCTGCCAAAAGA	0.537000													34	19					0	0	0.005524	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190478	32190478	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32190478G>A	ENST00000375023.3	-	3	399	c.261C>T	c.(259-261)ccC>ccT	p.P87P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	87	EGF-like 2.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAGCCCTAGGGGAGCGGGAA	0.622000													134	197					0	0	0.003610	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369087	86369087	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:86369087C>T	ENST00000400286.2	-	2	2155	c.1557G>A	c.(1555-1557)tgG>tgA	p.W519*		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	519	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGGAGCAGTCCCAGGGGTTAT	0.448000													27	8					0	0	0.001786	0	0
SDK2	54549	broad.mit.edu	37	17	71410810	71410810	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:71410810G>A	ENST00000392650.3	-	18	2457	c.2457C>T	c.(2455-2457)ttC>ttT	p.F819F	SDK2_ENST00000388726.3_Silent_p.F819F	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	819	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGCCGTTGATGAACTGGGGGC	0.602000													35	5					0	0	0.002222	0	0
EPHA6	285220	broad.mit.edu	37	3	97311499	97311499	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:97311499C>T	ENST00000389672.5	+	12	2468	c.2430C>T	c.(2428-2430)ttC>ttT	p.F810F	EPHA6_ENST00000514100.1_Silent_p.F202F|EPHA6_ENST00000502694.1_Silent_p.F202F|EPHA6_ENST00000442602.2_Silent_p.F176F	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	715	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCCCCAGCTTCCTGAGGGCAG	0.488000													22	31					0	0	0.002299	0	0
NPAP1	23742	broad.mit.edu	37	15	24921162	24921162	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:24921162C>T	ENST00000329468.2	+	1	622	c.148C>T	c.(148-150)Ctg>Ttg	p.L50L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTTCCGCGGCCTGTTCCGCCG	0.756000													11	15					0	0	0.004990	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130688231	130688231	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:130688231G>A	ENST00000388747.4	-	8	722	c.678C>T	c.(676-678)agC>agT	p.S226S	PIP5KL1_ENST00000490773.1_Intron|PIP5KL1_ENST00000300432.3_Silent_p.S23S	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	226	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CCACCCAGCGGCTCACCTCGC	0.562000													29	6					0	0	0.001512	0	0
RAG1	5896	broad.mit.edu	37	11	36596859	36596859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:36596859G>A	ENST00000299440.5	+	2	2117	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	669			E -> G (in OS).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTCTGACCACGAGACGCTGAC	0.493000									Familial Hemophagocytic Lymphohistiocytosis				14	14					0	0	0.001855	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953931	8953931	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8953931A>G	ENST00000595891.1	+	3	808	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	MBD3L1_ENST00000305625.2_Missense_Mutation_p.K193E			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.K193Q(1)		NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						CCGTCCTGAAAAACGCTAAGA	0.418000													13	18					0	0	0.003163	0	0
CACNA2D1	781	broad.mit.edu	37	7	81593651	81593651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:81593651C>T	ENST00000356860.3	-	33	2937	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D79N|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D879N	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	879						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)	AAGCTGGGATCAATCTCTCCA	0.373000													9	46					0	0	0.000443	0	0
HIF3A	64344	broad.mit.edu	37	19	46832684	46832684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:46832684C>T	ENST00000339613.2	+	12	1748	c.1493C>T	c.(1492-1494)cCt>cTt	p.P498L	HIF3A_ENST00000420102.2_Missense_Mutation_p.P503L|HIF3A_ENST00000600383.1_Missense_Mutation_p.P485L|HIF3A_ENST00000300862.3_Missense_Mutation_p.P552L|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000377670.4_Missense_Mutation_p.P554L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000244303.6_Missense_Mutation_p.P485L			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	554	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGCTCCAGCCCTTCCAGAGGG	0.677000													6	8					0	0	0.001168	0	0
CRYAA	1409	broad.mit.edu	37	21	44592345	44592345	+	Silent	SNP	C	C	T	rs150629848	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:44592345C>T	ENST00000291554.2	+	3	569	c.477C>T	c.(475-477)atC>atT	p.I159I	CRYAA_ENST00000398133.1_Silent_p.I139I|CRYAA_ENST00000398132.1_Silent_p.I122I|CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	159					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGCGAGCCATCCCCGTGTCGC	0.672000													6	23					0	0	0.000978	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346622	140346622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140346622G>A	ENST00000289269.5	+	1	803	c.271G>A	c.(271-273)Gag>Aag	p.E91K	PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		91	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTACCTGGAGCTGGACCT	0.672000													12	5					0	0	0.001368	0	0
RORB	6096	broad.mit.edu	37	9	77245258	77245258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:77245258G>A	ENST00000376896.2	+	2	680	c.68G>A	c.(67-69)gGa>gAa	p.G23E	RORB_ENST00000396204.2_Missense_Mutation_p.G34E	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	34					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATCCACTACGGAGTCATCACA	0.448000													54	6					0	0	0.003610	0	0
NFATC4	4776	broad.mit.edu	37	14	24845739	24845739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:24845739C>T	ENST00000413692.2	+	10	2629	c.2485C>T	c.(2485-2487)Cct>Tct	p.P829S	NFATC4_ENST00000553469.1_Missense_Mutation_p.P798S|NFATC4_ENST00000554661.1_Missense_Mutation_p.P696S|NFATC4_ENST00000556759.1_Missense_Mutation_p.P301S|NFATC4_ENST00000554050.1_Missense_Mutation_p.P766S|NFATC4_ENST00000556279.1_Missense_Mutation_p.P798S|NFATC4_ENST00000250373.4_Missense_Mutation_p.P766S|NFATC4_ENST00000556169.1_Missense_Mutation_p.P754S|NFATC4_ENST00000555802.1_Missense_Mutation_p.P54S|NFATC4_ENST00000557451.1_Missense_Mutation_p.P696S|NFATC4_ENST00000554344.1_Missense_Mutation_p.P696S|NFATC4_ENST00000555453.1_Missense_Mutation_p.P754S|NFATC4_ENST00000553708.1_Missense_Mutation_p.P766S|NFATC4_ENST00000555393.1_Missense_Mutation_p.P54S|NFATC4_ENST00000555167.1_Missense_Mutation_p.P301S|NFATC4_ENST00000555590.1_Missense_Mutation_p.P779S|NFATC4_ENST00000539237.2_Missense_Mutation_p.P798S|NFATC4_ENST00000422617.3_Missense_Mutation_p.P754S|NFATC4_ENST00000554591.1_Missense_Mutation_p.P829S|NFATC4_ENST00000553879.1_Missense_Mutation_p.P696S|NFATC4_ENST00000554966.1_Missense_Mutation_p.P779S|NFATC4_ENST00000554473.1_Missense_Mutation_p.P301S|NFATC4_ENST00000424781.2_Missense_Mutation_p.P779S|NFATC4_ENST00000557767.1_Missense_Mutation_p.P54S	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	766	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GCGGATGTTCCCTGAGACTAG	0.617000													17	7					0	0	0.000958	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366071	47366071	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:47366071G>A	ENST00000505841.1	-	0	38					NR_002788.2																						GCAAGAAGGGGTGAGCCATGA	0.547000													7	3					0	0	0.001984	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975909	76975909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:76975909C>T	ENST00000409911.1	-	3	1911	c.1688G>A	c.(1687-1689)gGc>gAc	p.G563D	LRRTM4_ENST00000409884.1_Missense_Mutation_p.G562D|LRRTM4_ENST00000409093.1_Missense_Mutation_p.G562D	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	562						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CAGCTCCAGGCCGGGGCTTTC	0.597000													32	61					0	0	0.002836	0	0
FCRL3	115352	broad.mit.edu	37	1	157660298	157660298	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157660298G>A	ENST00000368184.3	-	9	1728	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.T479T	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	479	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAGCCCTGAGGGTGAGGACGG	0.532000													39	27					0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41203209	41203209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41203209C>T	ENST00000263413.3	-	2	388	c.124G>A	c.(124-126)Gga>Aga	p.G42R	C6_ENST00000337836.5_Missense_Mutation_p.G42R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	42	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCTGGGTTCCAGAATTGCAA	0.493000													84	147					0	0	0.003610	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113512	117113512	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117113512G>A	ENST00000310357.3	-	6	2595	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	GPRC6A_ENST00000368549.3_Silent_p.S787S|GPRC6A_ENST00000530250.1_Silent_p.S683S	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	858					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCACACTATGGGAAGAATAAC	0.443000													28	38					0	0	0.001271	0	0
SEMA4D	10507	broad.mit.edu	37	9	92007373	92007373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:92007373G>A	ENST00000450295.1	-	8	1363	c.587C>T	c.(586-588)cCt>cTt	p.P196L	SEMA4D_ENST00000455551.2_Missense_Mutation_p.P196L|SEMA4D_ENST00000339861.4_Missense_Mutation_p.P196L|SEMA4D_ENST00000420987.1_Missense_Mutation_p.P196L|SEMA4D_ENST00000438547.2_Missense_Mutation_p.P196L|SEMA4D_ENST00000422704.2_Missense_Mutation_p.P196L|SEMA4D_ENST00000343780.4_Missense_Mutation_p.P196L|SEMA4D_ENST00000356444.2_Missense_Mutation_p.P196L			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	196	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.P196H(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCCTCAGAGGACTGTGGGA	0.498000													62	16					0	0	0.003610	0	0
ESYT1	23344	broad.mit.edu	37	12	56527378	56527378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:56527378C>T	ENST00000394048.5	+	12	1564	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	ESYT1_ENST00000267113.4_Missense_Mutation_p.P434S|ESYT1_ENST00000541590.1_Missense_Mutation_p.P434S	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	434						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTAGTGGTTCCCTCTACAAGG	0.458000													22	30					0	0	0.002299	0	0
CR1	1378	broad.mit.edu	37	1	207680090	207680090	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207680090G>A	ENST00000367049.4	+	3	333	c.333G>A	c.(331-333)gtG>gtA	p.V111V	CR1_ENST00000367052.1_Silent_p.V111V|CR1_ENST00000367051.1_Silent_p.V111V|CR1_ENST00000367053.1_Silent_p.V111V|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Silent_p.V111V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	111	Sushi 2.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGATCCTGTGAATGGCATGG	0.383000													43	46					0	0	0.003610	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343242	69343242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69343242C>T	ENST00000305363.4	+	8	927	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	288	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGCCCTGTTCCCTACACAAAT	0.408000													92	127					0	0	0.003610	0	0
CDON	50937	broad.mit.edu	37	11	125867117	125867117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:125867117G>A	ENST00000392693.3	-	12	2474	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C	CDON_ENST00000531738.1_Missense_Mutation_p.R160C|CDON_ENST00000263577.7_Missense_Mutation_p.R783C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	783	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCTAAACTACGAACTTCCACT	0.403000													19	24					0	0	0.002299	0	0
POGLUT1	56983	broad.mit.edu	37	3	119190292	119190292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:119190292C>T	ENST00000295588.4	+	3	397	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	105						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						CTGCATGTTCCCCTCAAGGTA	0.443000													20	34					0	0	0.001882	0	0
ZMYM1	79830	broad.mit.edu	37	1	35577700	35577700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:35577700C>T	ENST00000373330.1	+	10	1289	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.S372L			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	372						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACAGTTTCTTCAGTAACAGCA	0.269000													34	60					0	0	0.003610	0	0
TEX33	339669	broad.mit.edu	37	22	37397939	37397939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37397939G>A	ENST00000405091.2	-	4	679	c.428C>T	c.(427-429)cCt>cTt	p.P143L	TEX33_ENST00000402860.3_Missense_Mutation_p.P58L|TEX33_ENST00000381821.1_Missense_Mutation_p.P143L			O43247	EAN57_HUMAN	testis expressed 33	143																	AATGTTGTTAGGAATGATGCT	0.607000													5	3					0	0	0.001168	0	0
VSNL1	7447	broad.mit.edu	37	2	17773486	17773486	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:17773486C>T	ENST00000406397.1	+	2	670	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	VSNL1_ENST00000404666.2_Nonsense_Mutation_p.Q49*|VSNL1_ENST00000295156.4_Nonsense_Mutation_p.Q49*			P62760	VISL1_HUMAN	visinin-like 1	49	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGAGGAATTTCAGCAGCTCTA	0.413000													35	60					0	0	0.005524	0	0
PATL1	219988	broad.mit.edu	37	11	59425140	59425140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:59425140G>A	ENST00000300146.9	-	5	568	c.484C>T	c.(484-486)Cca>Tca	p.P162S		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	162	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TCATCTTCTGGACCCTGGGGG	0.463000													24	28					0	0	0.005443	0	0
RYR2	6262	broad.mit.edu	37	1	237875071	237875071	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:237875071C>T	ENST00000366574.2	+	71	10574	c.10257C>T	c.(10255-10257)ttC>ttT	p.F3419F	RYR2_ENST00000542537.1_Silent_p.F3403F|RYR2_ENST00000360064.6_Silent_p.F3417F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3419					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)			AGCAGAACTTCGTTGTACAGA	0.323000													22	18					0	0	0.001882	0	0
OR2W5	441932	broad.mit.edu	37	1	247655249	247655249	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247655249C>T	ENST00000522351.1	+	0	880							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGGGAAGTTCCTGACTCTCT	0.512000													40	37					0	0	0.002522	0	0
HGD	3081	broad.mit.edu	37	3	120360505	120360505	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:120360505C>T	ENST00000283871.5	-	11	1269	c.810G>A	c.(808-810)ggG>ggA	p.G270G		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	270			G -> R (in AKU).		L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GTGTATAATTCCCGTGCCAGG	0.443000													30	63					0	0	0.004878	0	0
SLIT3	6586	broad.mit.edu	37	5	168111062	168111062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:168111062C>T	ENST00000519560.1	-	32	4014	c.3595G>A	c.(3595-3597)Gga>Aga	p.G1199R	SLIT3_ENST00000404867.3_Missense_Mutation_p.G1199R|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1206R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1199	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.G1199*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATTGTCTCCTTTGTAGAGA	0.587000													28	10					0	0	0.001786	0	0
SOCS5	9655	broad.mit.edu	37	2	46985927	46985927	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:46985927C>T	ENST00000306503.5	+	2	430	c.258C>T	c.(256-258)atC>atT	p.I86I	SOCS5_ENST00000394861.2_Silent_p.I86I	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	86					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCACAGAAATCCCTCAAATTG	0.398000													18	28					0	0	0.001882	0	0
IFNA13	3447	broad.mit.edu	37	9	21367995	21367995	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:21367995G>A	ENST00000449498.1	-	1	80	c.15C>T	c.(13-15)ccC>ccT	p.P5P		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	4					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		GTAAAGCAAAGGGCGAGGCCA	0.547000													15	9					0	0	0.004007	0	0
MATK	4145	broad.mit.edu	37	19	3778394	3778394	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3778394C>T	ENST00000310132.6	-	14	1709	c.1311G>A	c.(1309-1311)gtG>gtA	p.V437V	MATK_ENST00000395045.2_Silent_p.V438V|MATK_ENST00000585778.1_Silent_p.V436V|MATK_ENST00000395040.2_Silent_p.V396V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	437	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCTTCTCCACGGCCTCCG	0.706000													16	26					0	0	0.000958	0	0
HTR7	3363	broad.mit.edu	37	10	92509277	92509277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:92509277G>A	ENST00000371721.3	-	2	856	c.614C>T	c.(613-615)tCc>tTc	p.S205F	HTR7_ENST00000336152.3_Missense_Mutation_p.S205F|HTR7_ENST00000277874.6_Missense_Mutation_p.S205F|HTR7_ENST00000371719.2_Missense_Mutation_p.S205F			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	205					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AAGCCAGACGGAGAGAATCAT	0.502000													39	53					0	0	0.001287	0	0
MUC5AC	4586	broad.mit.edu	37	11	1156663	1156663	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1156663G>A	ENST00000356191.2	+	10	671		c.e10+1							mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CTCTCCCACAGTAAGGCCCCA	0.612000													18	25					0	0	0.006122	0	0
IGSF21	84966	broad.mit.edu	37	1	18704809	18704809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:18704809G>A	ENST00000251296.1	+	10	1776	c.1393G>A	c.(1393-1395)Gag>Aag	p.E465K		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	465						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		AGTGATTCTGGAGCTGACGTG	0.562000													11	13					0	0	0.000978	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093726	30093726	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:30093726C>T	ENST00000567636.1	+	0	2101					NR_003558.1																						ATGAGGATTTCATGAAAGAGA	0.453000													9	10					0	0	0.004482	0	0
CCDC27	148870	broad.mit.edu	37	1	3670774	3670774	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:3670774C>T	ENST00000294600.2	+	2	495	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	137										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCCCCCAGTTCAGCACCAGGG	0.622000													35	66					0	0	0.001287	0	0
CSMD2	114784	broad.mit.edu	37	1	34238206	34238206	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:34238206T>A	ENST00000373381.4	-	13	1986	c.1810A>T	c.(1810-1812)Aat>Tat	p.N604Y	CSMD2_ENST00000338325.1_Missense_Mutation_p.N212Y	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	564	CUB 4.					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)				CATTGGTTATTCTTTTGGCAT	0.587000													44	67					0	0	0.003610	0	0
CLIP4	79745	broad.mit.edu	37	2	29386753	29386753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29386753G>A	ENST00000320081.5	+	13	1846	c.1591G>A	c.(1591-1593)Gga>Aga	p.G531R	CLIP4_ENST00000401605.1_Missense_Mutation_p.G531R|CLIP4_ENST00000401617.2_Missense_Mutation_p.G424R|CLIP4_ENST00000404424.1_Missense_Mutation_p.G531R	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	531	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGGTTCAGTTGGAGGTGTGCA	0.378000													46	35					0	0	0.003610	0	0
ELMOD1	55531	broad.mit.edu	37	11	107518311	107518311	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:107518311G>A	ENST00000265840.7	+	7	803	c.538G>A	c.(538-540)Gga>Aga	p.G180R	ELMOD1_ENST00000443271.2_Missense_Mutation_p.G180R|ELMOD1_ENST00000531234.1_Missense_Mutation_p.G174R	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	180	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GGGACTTCTGGGACTGTACAA	0.413000													18	17					0	0	0.002299	0	0
OPLAH	26873	broad.mit.edu	37	8	145113431	145113431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145113431C>T	ENST00000426825.1	-	6	832	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	251							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGGCAGAAGCCCTGCACGTAG	0.697000													13	36					0	0	0.001855	0	0
SUMF2	25870	broad.mit.edu	37	7	56141885	56141885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:56141885C>T	ENST00000434526.2	+	4	446	c.415C>T	c.(415-417)Cca>Tca	p.P139S	SUMF2_ENST00000395436.2_Intron|SUMF2_ENST00000275607.9_Missense_Mutation_p.P32S|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.P139S|SUMF2_ENST00000413756.1_Missense_Mutation_p.P120S|SUMF2_ENST00000437307.2_Missense_Mutation_p.P120S	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	120						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGTGGCTTCCAGTGGAAAA	0.552000											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	59					0	0	0.004878	0	0
PSMD2	5708	broad.mit.edu	37	3	184021489	184021489	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:184021489C>T	ENST00000310118.4	+	10	1833	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G	PSMD2_ENST00000435761.1_Silent_p.G266G|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.G295G	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	425					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGGATGGTGGCCTCACCCAGA	0.478000													15	24					0	0	0.000958	0	0
EFEMP1	2202	broad.mit.edu	37	2	56098004	56098004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:56098004G>A	ENST00000394555.2	-	10	1606	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	EFEMP1_ENST00000394554.1_Nonsense_Mutation_p.Q391*|EFEMP1_ENST00000355426.3_Nonsense_Mutation_p.Q391*|EFEMP1_ENST00000424836.2_Nonsense_Mutation_p.Q253*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	391	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACTATTGACTGGGGCAGTTCT	0.453000													17	28					0	0	0.004007	0	0
FLT3LG	2323	broad.mit.edu	37	19	49982276	49982276	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49982276C>T	ENST00000595510.1	+	5	508	c.207C>T	c.(205-207)tcC>tcT	p.S69S	FLT3LG_ENST00000204637.2_Silent_p.S69S|FLT3LG_ENST00000344019.3_Silent_p.S151S|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000594009.1_Silent_p.S151S|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Silent_p.S133S|FLT3LG_ENST00000597551.1_Silent_p.S151S|FLT3LG_ENST00000600429.1_Silent_p.S151S			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	151					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		AGAACTTCTCCCGGTGCCTGG	0.642000													6	10					0	0	0.004482	0	0
MYH11	4629	broad.mit.edu	37	16	15872668	15872668	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:15872668C>T	ENST00000338282.6	-	7	865	c.759G>A	c.(757-759)acG>acA	p.T253T	MYH11_ENST00000452625.2_Silent_p.T260T|MYH11_ENST00000396324.3_Silent_p.T260T|MYH11_ENST00000300036.5_Silent_p.T253T|MYH11_ENST00000576790.1_Silent_p.T253T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	253	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.T260T(2)|p.T253T(2)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGATGTAACCCGTGACGTCGA	0.562000			T	CBFB	AML								15	32					0	0	0.001882	0	0
MGA	23269	broad.mit.edu	37	15	42019419	42019419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42019419C>T	ENST00000219905.7	+	10	3653	c.3472C>T	c.(3472-3474)Cca>Tca	p.P1158S	MGA_ENST00000389936.4_Missense_Mutation_p.P1158S|MGA_ENST00000570161.1_Missense_Mutation_p.P1158S|MGA_ENST00000545763.1_Missense_Mutation_p.P1158S|MGA_ENST00000566586.1_Missense_Mutation_p.P1158S	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1158						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCGACATTACCCATTATGGGT	0.408000													16	27					0	0	0.004007	0	0
CSMD2	114784	broad.mit.edu	37	1	34102127	34102127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:34102127G>A	ENST00000373381.4	-	30	4978	c.4802C>T	c.(4801-4803)cCt>cTt	p.P1601L	CSMD2_ENST00000373380.1_Missense_Mutation_p.P474L|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1561	Sushi 9.					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)				GATGGAACCAGGATCAAAACA	0.567000													10	17					0	0	0.000673	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107048827	107048827	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:107048827C>T	ENST00000390627.2	-	0	413																											GAGACCCACTCCAGCCCCTTC	0.572000													77	15					0	0	0.003610	0	0
GLI2	2736	broad.mit.edu	37	2	121745959	121745959	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:121745959C>T	ENST00000452319.1	+	14	2529	c.2469C>T	c.(2467-2469)tcC>tcT	p.S823S	GLI2_ENST00000314490.11_Silent_p.S495S|GLI2_ENST00000361492.4_Silent_p.S823S			P10070	GLI2_HUMAN	GLI family zinc finger 2	823	Ser-rich.				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)				GCCGCCGCTCCTCCGGCATCT	0.721000													4	4					0	0	0.000602	0	0
CCPG1	9236	broad.mit.edu	37	15	55664175	55664175	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:55664175G>A	ENST00000310958.6	-	6	820	c.522C>T	c.(520-522)gcC>gcT	p.A174A	CCPG1_ENST00000425574.3_Silent_p.A174A|CCPG1_ENST00000442196.3_Silent_p.A174A|CCPG1_ENST00000569205.1_Silent_p.A174A|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	174	Interaction with MCF2L and SRC (By similarity).				cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GTCGTCTAAAGGCAGGACTGG	0.418000													20	32					0	0	0.001216	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				67	12					0	0	0.003610	0	0
B4GALT6	9331	broad.mit.edu	37	18	29237967	29237967	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:29237967G>A	ENST00000306851.5	-	3	614	c.318C>T	c.(316-318)ctC>ctT	p.L106L	B4GALT6_ENST00000237019.7_Silent_p.L67L|B4GALT6_ENST00000383131.3_Silent_p.L106L	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	106					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTGGACAGGGGAGGTATGGTG	0.373000													31	56					0	0	0.005524	0	0
PYGM	5837	broad.mit.edu	37	11	64518027	64518027	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64518027C>T	ENST00000164139.3	-	17	2396	c.1998G>A	c.(1996-1998)caG>caA	p.Q666Q	PYGM_ENST00000377432.3_Silent_p.Q578Q	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	666			Q -> E (in GSD5).		glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGTGGAGATCTGCTCAGAGA	0.592000													16	27					0	0	0.004007	0	0
CUL4B	8450	broad.mit.edu	37	X	119664110	119664110	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:119664110C>T	ENST00000371322.5	-	19	2501		c.e19-1		CUL4B_ENST00000336592.6_Splice_Site|CUL4B_ENST00000404115.3_Splice_Site	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B						cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTCTTCAACCTAACAAAAAA	0.318000													57	8					0	0	0.003610	0	0
FAM81B	153643	broad.mit.edu	37	5	94749811	94749811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:94749811G>A	ENST00000283357.5	+	4	500	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	152										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CTTTCGAAAAGAGGAATCGCT	0.488000													21	7					0	0	0.002299	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817021	69817021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69817021G>A	ENST00000251566.4	-	1	488	c.458C>T	c.(457-459)cCc>cTc	p.P153L	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	153						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCTCCACAGGGAATCACAGG	0.433000													20	26					0	0	0.002780	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144295164	144295164	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144295164C>T	ENST00000330824.2	+	1	97	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	8					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CGGGGCTGTCCTGCTTGCCCT	0.667000													19	6					0	0	0.001523	0	0
EPPK1	83481	broad.mit.edu	37	8	144945175	144945175	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144945175G>A	ENST00000525985.1	-	2	2318	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F				P58107	EPIPL_HUMAN	epiplakin 1	749						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCATCTGATCGAAGTAGCCGC	0.642000													33	81					0	0	0.003755	0	0
KCNA4	3739	broad.mit.edu	37	11	30032619	30032619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30032619C>T	ENST00000328224.6	-	2	2840	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	536						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AATCTTGCCCCCTACAGTGAT	0.498000													19	27					0	0	0.001216	0	0
HAL	3034	broad.mit.edu	37	12	96371830	96371830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:96371830G>A	ENST00000261208.3	-	18	1914	c.1546C>T	c.(1546-1548)Ccc>Tcc	p.P516S	HAL_ENST00000538703.1_Missense_Mutation_p.P516S|HAL_ENST00000541929.1_Missense_Mutation_p.P308S	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	516					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACAGACGAGGGATGGCACAGA	0.572000													7	22					0	0	0.003080	0	0
UGGT1	56886	broad.mit.edu	37	2	128900740	128900740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:128900740C>T	ENST00000375990.3	+	17	2123	c.1720C>T	c.(1720-1722)Ccg>Tcg	p.P574S	UGGT1_ENST00000259253.6_Missense_Mutation_p.P598S			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	598					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAAGAAATATCCGTATGTAGA	0.358000													37	46					0	0	0.005524	0	0
BABAM1	29086	broad.mit.edu	37	19	17389768	17389768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17389768C>T	ENST00000359435.4	+	9	1094	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	BABAM1_ENST00000447614.2_Missense_Mutation_p.H301Y|BABAM1_ENST00000601043.1_Missense_Mutation_p.H301Y|BABAM1_ENST00000598188.1_Missense_Mutation_p.H301Y|BABAM1_ENST00000595632.1_Missense_Mutation_p.H226Y|CTD-2278I10.6_ENST00000596542.1_Intron	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1	301					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						ACTGTTGGCCCACCCCCTGCA	0.597000													5	10					0	0	0.000602	0	0
P2RX4	5025	broad.mit.edu	37	12	121654979	121654979	+	Silent	SNP	C	C	A	rs144412132		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121654979C>A	ENST00000337233.4	+	2	485	c.177C>A	c.(175-177)tcC>tcA	p.S59S	P2RX4_ENST00000541532.1_Silent_p.S59S|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000543171.1_Intron|P2RX4_ENST00000359949.7_Silent_p.S75S	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	59					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAACTGACTCCGTGGTCAGCT	0.463000													160	209					1.75869e-58	3.31618e-58	0.003610	1	0
HNF4A	3172	broad.mit.edu	37	20	43034831	43034831	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:43034831C>T	ENST00000316099.3	+	2	338	c.249C>T	c.(247-249)ttC>ttT	p.F83F	HNF4A_ENST00000415691.1_Silent_p.F83F|HNF4A_ENST00000443598.2_Silent_p.F83F|HNF4A_ENST00000457232.1_Silent_p.F61F	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	83					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCAAGGGCTTCTTCCGGAGGA	0.627000													185	92					0	0	0.003610	0	0
HSPA4L	22824	broad.mit.edu	37	4	128716986	128716986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:128716986G>A	ENST00000296464.3	+	3	640	c.229G>A	c.(229-231)Gat>Aat	p.D77N	HSPA4L_ENST00000439123.2_Missense_Mutation_p.D108N|HSPA4L_ENST00000505726.1_Missense_Mutation_p.D51N|HSPA4L_ENST00000508776.1_Missense_Mutation_p.D77N	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	77					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATCATTTGATGATCCCATTGT	0.398000													26	35					0	0	0.003330	0	0
SUSD2	56241	broad.mit.edu	37	22	24584090	24584090	+	Silent	SNP	G	G	A	rs114640245	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:24584090G>A	ENST00000358321.3	+	13	2589	c.2328G>A	c.(2326-2328)ccG>ccA	p.P776P		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	776	Sushi.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CACCCACCCCGAAGTGCCAGC	0.647000													15	27					0	0	0.003163	0	0
TRANK1	9881	broad.mit.edu	37	3	36897069	36897069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36897069G>A	ENST00000429976.2	-	12	4259	c.4012C>T	c.(4012-4014)Ccc>Tcc	p.P1338S	TRANK1_ENST00000301807.6_Missense_Mutation_p.P788S|TRANK1_ENST00000428977.2_Missense_Mutation_p.P788S			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1338					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGAAATTGGGGCACCGTTTC	0.428000													42	60					0	0	0.003610	0	0
WFS1	7466	broad.mit.edu	37	4	6303634	6303634	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:6303634C>T	ENST00000226760.1	+	8	2282	c.2112C>T	c.(2110-2112)ttC>ttT	p.F704F	WFS1_ENST00000503569.1_Silent_p.F704F	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	704					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGGCCGCTTCAAGTACGTCC	0.652000													50	100					0	0	0.003610	0	0
LRRC32	2615	broad.mit.edu	37	11	76371022	76371022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:76371022C>T	ENST00000407242.2	-	3	1857	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	LRRC32_ENST00000404995.1_Missense_Mutation_p.E539K|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.E539K	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	539						integral to plasma membrane		p.E539Q(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TCCAGCACCTCCAGTGACACA	0.642000													13	21					0	0	0.001368	0	0
CACNA1I	8911	broad.mit.edu	37	22	40078599	40078599	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40078599C>T	ENST00000336649.4	+	38	5781	c.5781C>T	c.(5779-5781)ttC>ttT	p.F1927F	CACNA1I_ENST00000402142.3_Silent_p.F1921F|CACNA1I_ENST00000407673.1_Silent_p.F1886F|CACNA1I_ENST00000404898.1_Silent_p.F1886F|CACNA1I_ENST00000401624.1_Silent_p.F1921F|CACNA1I_ENST00000400164.3_Silent_p.F1886F			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1921					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAGAGAACTTCCTGTGTGAGA	0.612000													15	16					0	0	0.002450	0	0
SORCS3	22986	broad.mit.edu	37	10	106865234	106865234	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106865234C>T	ENST00000369701.3	+	7	1400	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	391						integral to membrane	neuropeptide receptor activity	p.I391I(1)		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)		CCATTGACATCAGTTCCCTGG	0.502000													35	68					0	0	0.003755	0	0
BRINP2	57795	broad.mit.edu	37	1	177247805	177247805	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:177247805G>A	ENST00000361539.4	+	7	1431	c.1119G>A	c.(1117-1119)caG>caA	p.Q373Q	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		373						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACCGCTACCAGCAGCTGGGAG	0.597000													56	50					0	0	0.003610	0	0
PGK2	5232	broad.mit.edu	37	6	49754773	49754773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:49754773G>A	ENST00000304801.3	-	1	280	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	43					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCTTGGGATGGAAGCCTTGAT	0.463000													29	65					0	0	0.001061	0	0
FDCSP	260436	broad.mit.edu	37	4	71099792	71099792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71099792C>T	ENST00000317987.5	+	4	258	c.146C>T	c.(145-147)cCa>cTa	p.P49L		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	49	Pro-rich.					extracellular region											TACCCATATCCATTTCGCCCA	0.393000													46	100					0	0	0.003610	0	0
CUBN	8029	broad.mit.edu	37	10	17127727	17127727	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:17127727A>T	ENST00000377833.4	-	16	2044	c.1979T>A	c.(1978-1980)cTt>cAt	p.L660H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	660	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCCCAAGAAGGGGGTCCTG	0.443000													19	30					0	0	0.000958	0	0
SGCE	8910	broad.mit.edu	37	7	94259055	94259055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:94259055C>T	ENST00000415788.2	-	3	403	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	SGCE_ENST00000265735.7_Missense_Mutation_p.E70K|SGCE_ENST00000445866.2_Missense_Mutation_p.E70K|SGCE_ENST00000428696.2_Missense_Mutation_p.E70K|SGCE_ENST00000447873.1_Missense_Mutation_p.E70K|SGCE_ENST00000437425.2_Intron			O43556	SGCE_HUMAN	sarcoglycan, epsilon	70					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGTGGAAATTCCCCCTTAAAA	0.348000													107	99					0	0	0.003610	0	0
ACTL8	81569	broad.mit.edu	37	1	18152297	18152297	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:18152297C>T	ENST00000375406.1	+	3	600	c.384C>T	c.(382-384)ctC>ctT	p.L128L		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	128						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CATCGGTCCTCCTGGCCGACC	0.582000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	22					0	0	0.004990	0	0
CCDC14	64770	broad.mit.edu	37	3	123634093	123634093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:123634093G>A	ENST00000485727.1	-	9	6387	c.1795C>T	c.(1795-1797)Cct>Tct	p.P599S	CCDC14_ENST00000433542.2_Missense_Mutation_p.P758S|CCDC14_ENST00000489746.1_Missense_Mutation_p.P599S|CCDC14_ENST00000310351.4_Missense_Mutation_p.P639S|CCDC14_ENST00000488653.2_Missense_Mutation_p.P799S|CCDC14_ENST00000483247.1_5'UTR			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	799						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TGTGGCTGAGGGGATAGTCTC	0.393000													46	50					0	0	0.003610	0	0
COL14A1	7373	broad.mit.edu	37	8	121267517	121267517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121267517G>A	ENST00000297848.3	+	23	3061	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E931K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E836K|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	931	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.E931K(1)		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)			CAAACATGTTGAAATGACCAG	0.463000													83	51					0	0	0.003610	0	0
OR56A4	120793	broad.mit.edu	37	11	6024001	6024001	+	Silent	SNP	G	G	A	rs141110808		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6024001G>A	ENST00000330728.4	-	1	423	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGAGCACGATGTCCAGCA	0.587000													24	26					0	0	0.004656	0	0
KDM5B	10765	broad.mit.edu	37	1	202700964	202700964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:202700964G>A	ENST00000367265.3	-	24	5177	c.4013C>T	c.(4012-4014)cCc>cTc	p.P1338L	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1374L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1338					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACCATGGAGGGGGATACAACT	0.398000													44	41					0	0	0.003214	0	0
OR2T6	254879	broad.mit.edu	37	1	248551788	248551788	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248551788G>A	ENST00000355728.2	+	1	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTCTGAGGAACAGGGATG	0.458000													17	37					0	0	0.001523	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7509205	7509205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:7509205C>T	ENST00000593531.1	+	7	785	c.785C>T	c.(784-786)tCc>tTc	p.S262F	ARHGEF18_ENST00000359920.6_Silent_p.F304F|ARHGEF18_ENST00000319670.9_Silent_p.F146F																							GCCGCCTCTTCCCATGCGCTG	0.632000													17	22					0	0	0.000958	0	0
SLC7A8	23428	broad.mit.edu	37	14	23600757	23600757	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23600757G>A	ENST00000316902.7	-	8	1751	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	SLC7A8_ENST00000422941.2_Silent_p.F118F|SLC7A8_ENST00000453702.1_Silent_p.F139F|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000529705.2_Silent_p.F237F	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	342					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGGCTCCAGCGAAGAACAGCC	0.607000													19	1					0	0	0.001216	0	0
NBEAL1	65065	broad.mit.edu	37	2	204058526	204058526	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:204058526C>T	ENST00000449802.1	+	46	7176	c.6843C>T	c.(6841-6843)caC>caT	p.H2281H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2281	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGGAACCACACCCTCCAAGAT	0.368000													80	116					0	0	0.003610	0	0
OR13G1	441933	broad.mit.edu	37	1	247835855	247835855	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247835855C>T	ENST00000359688.2	-	1	510	c.489G>A	c.(487-489)ttG>ttA	p.L163L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CACAGAAAGTCAACCTCATGA	0.473000													33	32					0	0	0.003271	0	0
DMBX1	127343	broad.mit.edu	37	1	46977753	46977753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:46977753G>A	ENST00000371956.4	+	4	751	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	DMBX1_ENST00000360032.3_Missense_Mutation_p.G241R	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	246					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTGGCCCCAGGGGGTGGCCT	0.627000													55	73					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179605805	179605805	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179605805A>T	ENST00000589042.1	-	48	12379	c.12155T>A	c.(12154-12156)tTt>tAt	p.F4052Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F3689Y|TTN_ENST00000591111.1_Missense_Mutation_p.F3735Y|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F3814Y|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.F3881Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3735							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)			TGTCTGTGGAAAATCCTCAGG	0.483000													64	97					0	0	0.003610	0	0
ZNF646	9726	broad.mit.edu	37	16	31087769	31087769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:31087769G>A	ENST00000394979.2	+	1	547	c.124G>A	c.(124-126)Gac>Aac	p.D42N	ZNF646_ENST00000300850.5_Missense_Mutation_p.D42N			O15015	ZN646_HUMAN	zinc finger protein 646	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGAGGAGGCTGACAGCATCCC	0.632000													32	37					0	0	0.004289	0	0
CENPF	1063	broad.mit.edu	37	1	214816472	214816472	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:214816472C>T	ENST00000366955.3	+	12	4959	c.4791C>T	c.(4789-4791)tgC>tgT	p.C1597C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1693	2 X 96 AA approximate tandem repeats.		Missing.		cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCTTGACTGCCTTAGGAAGC	0.418000													13	28					0	0	0.001368	0	0
NEFM	4741	broad.mit.edu	37	8	24776021	24776021	+	Missense_Mutation	SNP	G	G	A	rs150229714		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:24776021G>A	ENST00000221166.5	+	3	3435	c.2653G>A	c.(2653-2655)Gag>Aag	p.E885K	NEFM_ENST00000433454.2_Missense_Mutation_p.E509K|NEFM_ENST00000518131.1_Missense_Mutation_p.E667K|NEFM_ENST00000437366.2_Missense_Mutation_p.E846K|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	885	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAGGTTGAAGAGCATGAAGA	0.428000													84	17					0	0	0.003610	0	0
HKDC1	80201	broad.mit.edu	37	10	70987058	70987058	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:70987058G>A	ENST00000354624.5	+	2	292	c.159G>A	c.(157-159)aaG>aaA	p.K53K	RP11-227H15.4_ENST00000450995.1_RNA|HKDC1_ENST00000395086.2_Silent_p.K53K	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	53					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCCTGGCAAAGGACACCAACC	0.602000													16	20					0	0	0.003163	0	0
ADAD1	132612	broad.mit.edu	37	4	123302155	123302155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:123302155C>T	ENST00000296513.2	+	4	366	c.181C>T	c.(181-183)Cca>Tca	p.P61S	ADAD1_ENST00000388725.2_Missense_Mutation_p.P43S|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388724.2_Missense_Mutation_p.P61S	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	61					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGTAATTTTCCAGAGCCGTT	0.323000													21	23					0	0	0.001216	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057979	152057979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152057979C>T	ENST00000368806.1	-	3	2243	c.2179G>A	c.(2179-2181)Gac>Aac	p.D727N		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	727							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCTGAATTGTCCTCATCTAGA	0.448000													83	72					0	0	0.003610	0	0
EP400	57634	broad.mit.edu	37	12	132551442	132551442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:132551442C>T	ENST00000333577.4	+	50	8894	c.8785C>T	c.(8785-8787)Ccg>Tcg	p.P2929S	EP400_ENST00000389561.2_Missense_Mutation_p.P2893S|EP400_ENST00000332482.4_Missense_Mutation_p.P2856S|EP400_ENST00000389562.2_Missense_Mutation_p.P2892S|EP400_ENST00000330386.6_Missense_Mutation_p.P2812S			Q96L91	EP400_HUMAN	E1A binding protein p400	2929					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGTCTCCTCACCGGGAGTCAC	0.701000													10	17					0	0	0.000673	0	0
SCN10A	6336	broad.mit.edu	37	3	38768376	38768376	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38768376G>A	ENST00000449082.2	-	16	2807	c.2808C>T	c.(2806-2808)tgC>tgT	p.C936C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	936					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGGGAATGGGCAGGACCTGC	0.597000													26	42					0	0	0.005443	0	0
LPA	4018	broad.mit.edu	37	6	161006189	161006189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:161006189C>T	ENST00000447678.1	-	27	4298	c.4178G>A	c.(4177-4179)gGa>gAa	p.G1393E	LPA_ENST00000316300.5_Missense_Mutation_p.G1393E	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3901	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAACTCTGTCCATCACCTCG	0.463000													49	89					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179406264	179406264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179406264C>T	ENST00000589042.1	-	350	97764	c.97540G>A	c.(97540-97542)Gat>Aat	p.D32514N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D23449N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D30873N|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23574N|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D29946N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D23641N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30873	Ig-like 143.						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)			GTCATGCCATCACGGGAAACA	0.458000													10	5					0	0	0.000673	0	0
OR8D4	338662	broad.mit.edu	37	11	123777540	123777540	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:123777540C>T	ENST00000321355.2	+	1	432	c.402C>T	c.(400-402)gtC>gtT	p.V134V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTACAGGGTCATCATGTCCC	0.498000													35	60					0	0	0.003755	0	0
GSTA1	2938	broad.mit.edu	37	6	52664052	52664052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:52664052G>A	ENST00000334575.5	-	2	169	c.14C>T	c.(13-15)cCc>cTc	p.P5L	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	5	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GTGGAGCTTGGGCTTCTCTGC	0.458000													29	51					0	0	0.001271	0	0
DGAT1	8694	broad.mit.edu	37	8	145540555	145540555	+	Silent	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145540555T>A	ENST00000332324.4	-	16	1545	c.1272A>T	c.(1270-1272)cgA>cgT	p.R424R	DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	424					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGCGGAACATTCGCAGAGGGA	0.657000													10	16					0	0	0.000443	0	0
HAUS2	55142	broad.mit.edu	37	15	42858899	42858899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42858899C>T	ENST00000260372.3	+	6	656	c.593C>T	c.(592-594)tCg>tTg	p.S198L	HAUS2_ENST00000568876.1_Missense_Mutation_p.S167L	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	198					cell division|centrosome organization|G2/M transition of mitotic cell cycle|mitosis|spindle assembly	centrosome|cytosol|HAUS complex|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						AACGAAGTTTCGTCTTGTATC	0.348000													15	18					0	0	0.002450	0	0
LRRC8E	80131	broad.mit.edu	37	19	7963610	7963610	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:7963610C>A	ENST00000306708.6	+	3	304	c.203C>A	c.(202-204)cCg>cAg	p.P68Q		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	68						integral to membrane		p.P68Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCAGAGGCCCCGTGCCAGCAA	0.517000													7	100					0.00307968	0.0057151	0.003080	1	0
PLA2G4D	283748	broad.mit.edu	37	15	42364501	42364501	+	Silent	SNP	C	C	T	rs143657689	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42364501C>T	ENST00000290472.3	-	14	1501	c.1407G>A	c.(1405-1407)gaG>gaA	p.E469E		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	469	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCAGATTGTTCTCTTTGACAT	0.577000													41	78					0	0	0.003610	0	0
COL24A1	255631	broad.mit.edu	37	1	86590795	86590795	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:86590795G>A	ENST00000370571.2	-	3	1590	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	COL24A1_ENST00000436319.1_Silent_p.L408L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	408					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TAGCCTTCTTGAGATTAGTAA	0.363000													33	39					0	0	0.003271	0	0
PKP2	5318	broad.mit.edu	37	12	32949219	32949219	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:32949219G>A	ENST00000340811.4	-	11	2289	c.2181C>T	c.(2179-2181)ctC>ctT	p.L727L	PKP2_ENST00000070846.6_Silent_p.L771L	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	771					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAAATCAGGGAGAGTTTCTT	0.358000													10	19					0	0	0.000673	0	0
SCAF11	9169	broad.mit.edu	37	12	46321886	46321886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:46321886G>A	ENST00000465950.1	-	1	1862	c.653C>T	c.(652-654)tCa>tTa	p.S218L	SCAF11_ENST00000419565.2_Missense_Mutation_p.S533L|SCAF11_ENST00000549162.1_Missense_Mutation_p.S341L|SCAF11_ENST00000369367.3_Missense_Mutation_p.S533L			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	533					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTCTGATTGTGAAAGTCCAGA	0.353000													44	61					0	0	0.002222	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147844604	147844604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:147844604C>T	ENST00000361727.3	+	17	3092	c.2576C>T	c.(2575-2577)tCa>tTa	p.S859L	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	859	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTGTCCTTTTCATTTGATGTG	0.463000										HNSCC(39;0.1)			46	144					0	0	0.003610	0	0
PKP2	5318	broad.mit.edu	37	12	32955374	32955374	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:32955374C>T	ENST00000340811.4	-	10	2238	c.2130G>A	c.(2128-2130)agG>agA	p.R710R	PKP2_ENST00000070846.6_Silent_p.R754R	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	754					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGGACAGATTCCTCAGCAGCG	0.448000													50	93					0	0	0.003610	0	0
OR6K6	128371	broad.mit.edu	37	1	158725497	158725497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158725497G>A	ENST00000368144.2	+	1	988	c.892G>A	c.(892-894)Gac>Aac	p.D298N		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					AGTGTTTTGGGACACAGCAAT	0.443000													34	35					0	0	0.002836	0	0
LRPPRC	10128	broad.mit.edu	37	2	44145436	44145436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:44145436G>A	ENST00000260665.7	-	28	3055	c.2998C>T	c.(2998-3000)Ctt>Ttt	p.L1000F		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1000					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCCTCTCTAAGGATTTCTGCT	0.358000													217	259					0	0	0.003610	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125874302	125874302	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:125874302G>A	ENST00000393434.2	-	5	922	c.573C>T	c.(571-573)ctC>ctT	p.L191L	ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Silent_p.L191L|ALDH1L1_ENST00000455064.2_Silent_p.L16L|ALDH1L1_ENST00000393431.2_Silent_p.L191L|ALDH1L1_ENST00000273450.3_Silent_p.L201L	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	191	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAGGCTGAGGGAGTCTGGGGG	0.612000													14	21					0	0	0.003163	0	0
IL5	3567	broad.mit.edu	37	5	131877530	131877530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:131877530C>T	ENST00000231454.1	-	4	421	c.378G>A	c.(376-378)atG>atA	p.M126I		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5 (colony-stimulating factor, eosinophil)	126					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	ACTCGGTGTTCATTACACCAA	0.393000													27	8					0	0	0.001271	0	0
GLP2R	9340	broad.mit.edu	37	17	9760827	9760827	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:9760827C>T	ENST00000262441.5	+	6	1212	c.699C>T	c.(697-699)gtC>gtT	p.V233V	GLP2R_ENST00000574745.1_Silent_p.V53V	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	233					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TGAAGGACGTCGTCTTCTACA	0.502000													25	7					0	0	0.001061	0	0
CSMD1	64478	broad.mit.edu	37	8	2813223	2813223	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:2813223G>A	ENST00000602557.1	-	65	10440	c.9885C>T	c.(9883-9885)ttC>ttT	p.F3295F	CSMD1_ENST00000602723.1_Silent_p.F3118F|CSMD1_ENST00000542608.1_Silent_p.F3117F|CSMD1_ENST00000520002.1_Silent_p.F3295F|CSMD1_ENST00000537824.1_Silent_p.F3294F|CSMD1_ENST00000400186.3_Silent_p.F3118F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3295	Sushi 28.					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)		AGGTGTAGCCGAAAGTAGGAA	0.502000													77	22					0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108117571	108117571	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108117571G>A	ENST00000273353.3	-	36	5162	c.5106C>T	c.(5104-5106)tcC>tcT	p.S1702S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1702						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTCTTGCAGGGACCTTAGAT	0.522000													71	102					0	0	0.003610	0	0
OR2G3	81469	broad.mit.edu	37	1	247768910	247768910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247768910C>T	ENST00000320002.2	+	1	55	c.23C>T	c.(22-24)tCc>tTc	p.S8F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AATGAGAGTTCCCTAATGGAT	0.468000													26	52					0	0	0.004656	0	0
GRM8	2918	broad.mit.edu	37	7	126173045	126173045	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:126173045G>A	ENST00000339582.2	-	9	3199	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	GRM8_ENST00000444921.2_Silent_p.F797F|GRM8_ENST00000358373.3_Silent_p.F797F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	797					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGATGGGGATGAAAGCTAACC	0.393000										HNSCC(24;0.065)			40	9					0	0	0.002852	0	0
OR51E2	81285	broad.mit.edu	37	11	4703695	4703695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4703695G>A	ENST00000396950.3	-	2	486	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACCAGAAAAGGGCAAGGATC	0.517000													17	32					0	0	0.001216	0	0
DRD5	1816	broad.mit.edu	37	4	9784716	9784716	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:9784716A>G	ENST00000304374.2	+	1	1459	c.1063A>G	c.(1063-1065)Aac>Gac	p.N355D		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	355					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTCCTCACTCAACCCCGTCAT	0.627000													15	24					0	0	0.003163	0	0
DCHS2	54798	broad.mit.edu	37	4	155243506	155243506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:155243506C>T	ENST00000357232.3	-	13	2787	c.2788G>A	c.(2788-2790)Gga>Aga	p.G930R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	930	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTGCCTGTCCTTGAAGAGGA	0.373000													27	30					0	0	0.001512	0	0
C10orf120	399814	broad.mit.edu	37	10	124458883	124458883	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124458883C>T	ENST00000329446.4	-	2	253	c.222G>A	c.(220-222)ggG>ggA	p.G74G		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	74										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GGGAGTATTTCCCAAGGGCAA	0.483000													17	26					0	0	0.003330	0	0
ANK3	288	broad.mit.edu	37	10	61835021	61835021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61835021G>A	ENST00000280772.1	-	37	5809	c.5618C>T	c.(5617-5619)tCa>tTa	p.S1873L	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1873	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AACTGGAGATGAAGTTCGACT	0.428000													32	64					0	0	0.001786	0	0
CACNA1E	777	broad.mit.edu	37	1	181480509	181480509	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181480509G>A	ENST00000526775.1	+	3	540	c.375G>A	c.(373-375)gaG>gaA	p.E125E	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Silent_p.E125E|CACNA1E_ENST00000360108.3_Silent_p.E125E|CACNA1E_ENST00000357570.5_Silent_p.E76E|CACNA1E_ENST00000367573.2_Silent_p.E125E|CACNA1E_ENST00000358338.5_Silent_p.E76E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	125					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCCACAGGAGAAGACAGAAC	0.502000													105	101					0	0	0.003610	0	0
NEB	4703	broad.mit.edu	37	2	152483671	152483671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152483671G>A	ENST00000397345.3	-	70	10394	c.10192C>T	c.(10192-10194)Ccc>Tcc	p.P3398S	NEB_ENST00000604864.1_Missense_Mutation_p.P3398S|NEB_ENST00000603639.1_Missense_Mutation_p.P3398S|NEB_ENST00000172853.10_Missense_Mutation_p.P3155S|NEB_ENST00000427231.2_Missense_Mutation_p.P3398S|NEB_ENST00000409198.1_Missense_Mutation_p.P3155S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3398					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACCCAATGGGGACCCAGCCA	0.443000													22	19					0	0	0.002780	0	0
NTM	50863	broad.mit.edu	37	11	132177686	132177686	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:132177686C>T	ENST00000374786.1	+	4	1109	c.630C>T	c.(628-630)ccC>ccT	p.P210P	NTM_ENST00000374784.1_Silent_p.P210P|NTM_ENST00000427481.2_Silent_p.P201P|NTM_ENST00000425719.2_Silent_p.P210P|NTM_ENST00000539799.1_Silent_p.P210P|NTM_ENST00000374791.3_Silent_p.P210P|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	210	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.P210P(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TGGCCGCGCCCGTGGTACGGA	0.577000													10	14					0	0	0.000673	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982977	92982977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:92982977C>T	ENST00000523629.1	-	11	1902	c.1448G>A	c.(1447-1449)aGg>aAg	p.R483K	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R456K|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R446K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R483K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R446K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R446K|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R456K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R494K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	483					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CATCTTGGCCCTCTCTGTTGT	0.622000													33	28					0	0	0.002836	0	0
SPEF2	79925	broad.mit.edu	37	5	35814644	35814644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35814644G>A	ENST00000356031.3	+	37	5612	c.5458G>A	c.(5458-5460)Gaa>Aaa	p.E1820K	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.E617K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1820					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATACAGAGGAAAAGAAATG	0.313000													34	54					0	0	0.001287	0	0
ADAM29	11086	broad.mit.edu	37	4	175898030	175898030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:175898030G>A	ENST00000359240.3	+	5	2024	c.1354G>A	c.(1354-1356)Ggg>Agg	p.G452R	ADAM29_ENST00000445694.1_Missense_Mutation_p.G452R|ADAM29_ENST00000514159.1_Missense_Mutation_p.G452R|ADAM29_ENST00000404450.4_Missense_Mutation_p.G452R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	452	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTACCATCAGGGAAAGTGTG	0.438000													22	32					0	0	0.001523	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102550183	102550183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:102550183C>A	ENST00000334701.7	-	8	1932	c.1651G>T	c.(1651-1653)Gaa>Taa	p.E551*	HSP90AA1_ENST00000441629.2_Nonsense_Mutation_p.E250*|HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.E429*	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	429					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCTTTATCTTCCGCCAGTTCA	0.328000													44	14					3.05275e-18	5.73576e-18	0.003214	1	0
ALPK2	115701	broad.mit.edu	37	18	56202135	56202135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:56202135C>T	ENST00000361673.3	-	5	5497	c.5284G>A	c.(5284-5286)Gaa>Aaa	p.E1762K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1762							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AATGATGTTTCGAGTTTGGGC	0.403000													42	49					0	0	0.002522	0	0
TINAG	27283	broad.mit.edu	37	6	54208130	54208130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:54208130G>A	ENST00000259782.4	+	5	827	c.731G>A	c.(730-732)tGg>tAg	p.W244*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	244					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCTGCATCCTGGGCATTTTCC	0.368000													25	32					0	0	0.001061	0	0
MYB	4602	broad.mit.edu	37	6	135518428	135518428	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:135518428C>T	ENST00000341911.5	+	10	1732	c.1533C>T	c.(1531-1533)tcC>tcT	p.S511S	MYB_ENST00000525369.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000534044.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000528774.1_Silent_p.S508S|MYB_ENST00000534121.1_Silent_p.S495S|MYB_ENST00000367814.4_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000442647.2_Intron	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	458				I -> F (in Ref. 1; AAA52032).	blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCAAGCGTTCCCCTGTCAAAA	0.488000			T	NFIB	adenoid cystic carcinoma								31	30					0	0	0.002836	0	0
USH1C	10083	broad.mit.edu	37	11	17542432	17542432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17542432G>A	ENST00000005226.7	-	14	1194	c.1195C>T	c.(1195-1197)Ctt>Ttt	p.L399F	USH1C_ENST00000527720.1_Missense_Mutation_p.L368F|USH1C_ENST00000527020.1_Missense_Mutation_p.L380F|USH1C_ENST00000318024.4_Missense_Mutation_p.L399F	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	399					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGCTTGCGAAGGGGTACTGGG	0.522000													82	89					0	0	0.003610	0	0
VCPKMT	79609	broad.mit.edu	37	14	50576425	50576425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:50576425G>A	ENST00000395860.2	-	6	686	c.682C>T	c.(682-684)Cca>Tca	p.P228S	METTL21D_ENST00000395859.2_Missense_Mutation_p.P193S	NM_024558.2	NP_078834.2	Q9H867	MT21D_HUMAN		228							methyltransferase activity			kidney(1)|lung(1)|urinary_tract(1)	3						CTTCACGATGGAAATTTCTAT	0.338000													21	5					0	0	0.003330	0	0
NCOA1	8648	broad.mit.edu	37	2	24930085	24930085	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:24930085C>T	ENST00000405141.1	+	14	2457	c.1746C>T	c.(1744-1746)tcC>tcT	p.S582S	NCOA1_ENST00000407230.1_Silent_p.S431S|NCOA1_ENST00000406961.1_Silent_p.S582S|NCOA1_ENST00000348332.3_Silent_p.S582S|NCOA1_ENST00000538539.1_Silent_p.S582S|NCOA1_ENST00000288599.5_Silent_p.S582S|NCOA1_ENST00000395856.3_Silent_p.S582S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	582	Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTGAGTCCAAAGATAACA	0.418000			T	PAX3	alveolar rhadomyosarcoma								23	34					0	0	0.001882	0	0
RPA4	29935	broad.mit.edu	37	X	96140057	96140057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:96140057C>T	ENST00000373040.3	+	1	1151	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	250					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CCACATCTATCCCACTGTGGA	0.498000								Other identified genes with known or suspected DNA repair function					36	4					0	0	0.001706	0	0
GRM8	2918	broad.mit.edu	37	7	126746568	126746568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:126746568G>A	ENST00000339582.2	-	3	1517	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	GRM8_ENST00000444921.2_Nonsense_Mutation_p.Q237*|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Nonsense_Mutation_p.Q237*|GRM8_ENST00000405249.1_Nonsense_Mutation_p.Q237*			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	237					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTCGAGATCTGGGTGAAGGCC	0.488000										HNSCC(24;0.065)			7	31					0	0	0.004482	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5956288	5956288	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:5956288G>A	ENST00000284898.6	-	20	2003	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	L3MBTL4_ENST00000317931.7_Silent_p.I592I|L3MBTL4_ENST00000535782.1_Silent_p.I405I|RP11-793A3.1_ENST00000577704.1_RNA|L3MBTL4_ENST00000400105.2_Silent_p.I601I	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	601	SAM.				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGAACATCAGGATAGAGTTGT	0.498000													99	76					0	0	0.003610	0	0
AKAP14	158798	broad.mit.edu	37	X	119037548	119037548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:119037548C>T	ENST00000394594.2	+	4	398	c.260C>T	c.(259-261)tCg>tTg	p.S87L	AKAP14_ENST00000334356.2_Splice_Site_p.S87_splice|AKAP14_ENST00000371431.3_Splice_Site_p.S87_splice|AKAP14_ENST00000371425.4_Splice_Site_p.S87_splice|AKAP14_ENST00000371422.1_Missense_Mutation_p.S87L|AKAP14_ENST00000371423.2_Splice_Site_p.S87_splice	NM_001008535.1	NP_001008535.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	87						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						GAATATTTTTCGGTAAGTTAG	0.413000													17	2					0	0	0.004007	0	0
ZNF583	147949	broad.mit.edu	37	19	56935630	56935630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56935630C>T	ENST00000333201.9	+	5	1813	c.1603C>T	c.(1603-1605)Ctt>Ttt	p.L535F	ZNF583_ENST00000291598.7_Missense_Mutation_p.L535F|ZNF583_ENST00000585612.1_Intron	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GCGTGCACATCTTGCTCATCA	0.418000													31	40					0	0	0.001786	0	0
ADAM33	80332	broad.mit.edu	37	20	3650192	3650192	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:3650192C>T	ENST00000356518.2	-	20	2574		c.e20+1		ADAM33_ENST00000466620.1_Splice_Site|ADAM33_ENST00000379861.4_Splice_Site|ADAM33_ENST00000350009.2_Splice_Site	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCCTCACTCACCCAGGGGCCA	0.662000													7	5					0	0	0.004482	0	0
RCSD1	92241	broad.mit.edu	37	1	167666671	167666671	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:167666671G>A	ENST00000367854.3	+	6	1141	c.810G>A	c.(808-810)gaG>gaA	p.E270E	RCSD1_ENST00000537350.1_Silent_p.E240E	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	270	RCSD.									NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GTTCAGAGGAGGTGGACGGCC	0.632000													7	5					0	0	0.003080	0	0
OR5M9	390162	broad.mit.edu	37	11	56230088	56230088	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56230088C>T	ENST00000279791.1	-	1	789	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TCTACGGATTCCTCAGTGGGT	0.473000													17	28					0	0	0.006122	0	0
SCMH1	22955	broad.mit.edu	37	1	41579008	41579008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:41579008G>A	ENST00000402904.2	-	8	1030	c.662C>T	c.(661-663)cCt>cTt	p.P221L	SCMH1_ENST00000372595.1_Missense_Mutation_p.P160L|SCMH1_ENST00000361705.3_Missense_Mutation_p.P174L|SCMH1_ENST00000326197.7_Missense_Mutation_p.P221L|SCMH1_ENST00000397174.2_Missense_Mutation_p.P201L|SCMH1_ENST00000397171.2_Missense_Mutation_p.P160L|SCMH1_ENST00000361191.5_Missense_Mutation_p.P160L|SCMH1_ENST00000372597.1_Missense_Mutation_p.P174L|SCMH1_ENST00000337495.5_Missense_Mutation_p.P231L|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372596.1_Missense_Mutation_p.P160L	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	221					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCAGCCCACAGGGAAGATGTC	0.557000													35	58					0	0	0.003755	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078160	46078160	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46078160C>G	ENST00000397907.1	+	1	312	c.264C>G	c.(262-264)atC>atG	p.I88M	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	88	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCAGACCCATCTCCTGCAGCA	0.612000													16	23					0	0	0.004990	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760810	15760810	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15760810C>T	ENST00000221307.7	+	7	783	c.735C>T	c.(733-735)ttC>ttT	p.F245F	CYP4F3_ENST00000585846.1_Silent_p.F245F|CYP4F3_ENST00000586182.1_Silent_p.F245F|CYP4F3_ENST00000591058.1_Silent_p.F245F|CYP4F3_ENST00000592424.1_3'UTR	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	245					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ACATAGACTTCCTGTATTATC	0.572000													60	87					0	0	0.003610	0	0
MYO3A	53904	broad.mit.edu	37	10	26310491	26310491	+	Silent	SNP	C	C	T	rs111860916		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:26310491C>T	ENST00000265944.5	+	8	811	c.645C>T	c.(643-645)tcC>tcT	p.S215S	MYO3A_ENST00000376302.1_Silent_p.S215S|MYO3A_ENST00000543632.1_Silent_p.S215S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	215	Protein kinase.				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						ACACTTGGTCCCTGGGTATCA	0.463000													23	41					0	0	0.003330	0	0
SLC27A4	10999	broad.mit.edu	37	9	131117433	131117433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:131117433G>A	ENST00000300456.3	+	10	1543	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	476					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GATTGCCAAGGATGTCTTCAA	0.627000													14	2					0	0	0.002450	0	0
MED12L	116931	broad.mit.edu	37	3	151131009	151131009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151131009C>T	ENST00000474524.1	+	40	6156	c.6118C>T	c.(6118-6120)Ccc>Tcc	p.P2040S	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2040	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCAAACCTTCCCTCCGTGCC	0.577000													30	26					0	0	0.001512	0	0
LIPC	3990	broad.mit.edu	37	15	58855705	58855705	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:58855705G>A	ENST00000414170.3	+	9	1458	c.1169_splice	c.e9-1	p.G391_splice	LIPC_ENST00000299022.5_Splice_Site_p.G391_splice|LIPC_ENST00000356113.6_Splice_Site_p.G391_splice|LIPC_ENST00000433326.2_Splice_Site_p.G330_splice			P11150	LIPC_HUMAN	lipase, hepatic	391	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GTATTCAAGGGGCAAAGGAAT	0.413000													12	15					0	0	0.001855	0	0
SCN10A	6336	broad.mit.edu	37	3	38755538	38755538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38755538C>T	ENST00000449082.2	-	21	3714	c.3715G>A	c.(3715-3717)Gaa>Aaa	p.E1239K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1239					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAGAATATTCCAGAATCTTC	0.522000													35	52					0	0	0.001951	0	0
ANK3	288	broad.mit.edu	37	10	61830531	61830531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61830531C>T	ENST00000280772.1	-	37	10299	c.10108G>A	c.(10108-10110)Gaa>Aaa	p.E3370K	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3370					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGGCCAAATTCATTATCTTTT	0.433000													47	59					0	0	0.003214	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891358	89891358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:89891358G>A	ENST00000534061.1	+	7	1072	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.R281Q	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	281	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGAATCCCCCGAATACCTGTA	0.313000													57	93					0	0	0.003610	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978599	119978599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:119978599C>T	ENST00000307142.4	+	5	3492	c.3296C>T	c.(3295-3297)cCc>cTc	p.P1099L	SYNPO2_ENST00000448416.2_Missense_Mutation_p.P101S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	757						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCAGTCCCACCCCCCATTTCT	0.413000													12	34					0	0	0.002450	0	0
MORC1	27136	broad.mit.edu	37	3	108822724	108822724	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108822724G>A	ENST00000232603.5	-	4	277	c.195C>T	c.(193-195)ttC>ttT	p.F65F	MORC1-AS1_ENST00000480826.1_RNA|MORC1_ENST00000483760.1_Silent_p.F65F	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	65					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CATCATCCAGGAAACACAACA	0.358000													36	40					0	0	0.002222	0	0
LY86	9450	broad.mit.edu	37	6	6626593	6626593	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:6626593C>T	ENST00000379953.2	+	4	643	c.291C>T	c.(289-291)ttC>ttT	p.F97F	LY86_ENST00000230568.4_Silent_p.F97F			O95711	LY86_HUMAN	lymphocyte antigen 86	97					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					TTTTGAATTTCTCCTATCCCA	0.483000													21	38					0	0	0.001523	0	0
PARP12	64761	broad.mit.edu	37	7	139737607	139737607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:139737607G>A	ENST00000263549.3	-	7	2105	c.1232C>T	c.(1231-1233)gCc>gTc	p.A411V	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	411	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGCCAGGTAGGCCTTCTCCAC	0.557000													28	11					0	0	0.001061	0	0
TAF3	83860	broad.mit.edu	37	10	8006646	8006646	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:8006646C>T	ENST00000344293.5	+	3	1379	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	391					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGGCCTCTATCGATGCTGTGA	0.463000													26	44					0	0	0.001061	0	0
IGLV7-46	28775	broad.mit.edu	37	22	22724416	22724416	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:22724416G>A	ENST00000390295.2	+	0	346																											CTGAGGATGAGGCTGAGTATT	0.562000													10	11					0	0	0.001368	0	0
ADAM33	80332	broad.mit.edu	37	20	3651711	3651711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:3651711G>A	ENST00000356518.2	-	19	2423	c.2182C>T	c.(2182-2184)Cca>Tca	p.P728S	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.P728S|ADAM33_ENST00000350009.2_Missense_Mutation_p.P702S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	728					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGGCTCCTGGGAGTCGGTAG	0.662000													6	0					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9048182	9048182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9048182C>T	ENST00000397910.4	-	5	33652	c.33449G>A	c.(33448-33450)gGa>gAa	p.G11150E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11152	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						GGTCACCATTCCTGGTACCTC	0.468000													23	28					0	0	0.004656	0	0
LZTS2	84445	broad.mit.edu	37	10	102763772	102763772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:102763772C>T	ENST00000370220.1	+	2	3980	c.917C>T	c.(916-918)tCc>tTc	p.S306F	LZTS2_ENST00000370223.3_Missense_Mutation_p.S306F			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	306	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GACAGCAGCTCCTGTGGGGAG	0.677000													16	24					0	0	0.003163	0	0
GUCA1B	2979	broad.mit.edu	37	6	42156425	42156425	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:42156425G>A	ENST00000230361.3	-	2	347	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	84	EF-hand 2.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCCTCAGCACGAGATTCAGAG	0.552000													9	22					0	0	0.004482	0	0
IFNW1	3467	broad.mit.edu	37	9	21141124	21141124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:21141124C>T	ENST00000380229.2	-	1	1020	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	149					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GACACGGATTCCCTGGAAGTA	0.488000													14	10					0	0	0.001855	0	0
TMC5	79838	broad.mit.edu	37	16	19451968	19451968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:19451968G>A	ENST00000396229.2	+	3	1357	c.608G>A	c.(607-609)gGa>gAa	p.G203E	TMC5_ENST00000381414.4_Missense_Mutation_p.G203E|TMC5_ENST00000542583.2_Missense_Mutation_p.G203E|TMC5_ENST00000541464.1_Missense_Mutation_p.G203E	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	203						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACTCTCTGGGAAAGCCTGAT	0.473000													24	50					0	0	0.003954	0	0
SORCS3	22986	broad.mit.edu	37	10	106937879	106937879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106937879C>T	ENST00000369701.3	+	14	2184	c.1957C>T	c.(1957-1959)Ctc>Ttc	p.L653F	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	653						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)		TTCGGTTCCTCTCTTTGTTGA	0.473000													14	30					0	0	0.006122	0	0
PER2	8864	broad.mit.edu	37	2	239168679	239168679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:239168679C>T	ENST00000254657.3	-	14	1837	c.1558G>A	c.(1558-1560)Ggt>Agt	p.G520S	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	520					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GTCTTGTTACCATTTTTACAA	0.333000													5	10					0	0	0.000602	0	0
TRGC2	6967	broad.mit.edu	37	7	38288996	38288996	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:38288996C>T	ENST00000436911.2	-	0	177																											CATGGTGTTCCCCTCCTGGGA	0.418000													76	152					0	0	0.003610	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543919	141543919	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:141543919C>T	ENST00000442267.2	-	21	3305	c.3231G>A	c.(3229-3231)gaG>gaA	p.E1077E		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1077						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGCTCCCGCCCTCCTTTGCAG	0.652000													10	14					0	0	0.000673	0	0
SERPINB5	5268	broad.mit.edu	37	18	61156652	61156652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61156652G>A	ENST00000382771.4	+	4	671	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SERPINB5_ENST00000489441.1_Missense_Mutation_p.E127K	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	127					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TAAATTGGAAGAAACGAAAGG	0.388000													22	37					0	0	0.003954	0	0
PPP3CA	5530	broad.mit.edu	37	4	102020813	102020813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:102020813G>A	ENST00000394854.3	-	4	1134	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	PPP3CA_ENST00000394853.4_Missense_Mutation_p.H151Y|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000523694.2_Missense_Mutation_p.H84Y|PPP3CA_ENST00000510292.1_5'UTR|PPP3CA_ENST00000507176.1_Missense_Mutation_p.H53Y|PPP3CA_ENST00000323055.6_Missense_Mutation_p.H151Y	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	151	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)		CTACATTCATGATTTCCACGA	0.289000													21	41					0	0	0.004656	0	0
OPLAH	26873	broad.mit.edu	37	8	145113430	145113430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145113430C>T	ENST00000426825.1	-	6	833	c.752G>A	c.(751-753)gGc>gAc	p.G251D	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	251							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ACGGCAGAAGCCCTGCACGTA	0.701000													13	37					0	0	0.001855	0	0
NRROS	375387	broad.mit.edu	37	3	196387622	196387622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:196387622C>T	ENST00000328557.4	+	3	1311	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		GCTTCACATTCGGGAGCACGA	0.637000													22	50					0	0	0.001882	0	0
FN1	2335	broad.mit.edu	37	2	216271221	216271221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:216271221G>A	ENST00000354785.4	-	19	3095	c.2726C>T	c.(2725-2727)tCt>tTt	p.S909F	FN1_ENST00000346544.3_Missense_Mutation_p.S909F|FN1_ENST00000336916.4_Missense_Mutation_p.S909F|FN1_ENST00000345488.5_Missense_Mutation_p.S909F|FN1_ENST00000432072.2_Missense_Mutation_p.S909F|FN1_ENST00000357009.2_Missense_Mutation_p.S909F|FN1_ENST00000421182.1_Missense_Mutation_p.S909F|FN1_ENST00000356005.4_Missense_Mutation_p.S909F|FN1_ENST00000357867.4_Missense_Mutation_p.S909F|FN1_ENST00000323926.6_Missense_Mutation_p.S909F|FN1_ENST00000359671.1_Missense_Mutation_p.S909F|FN1_ENST00000443816.1_Missense_Mutation_p.S909F|FN1_ENST00000446046.1_Missense_Mutation_p.S909F			P02751	FINC_HUMAN	fibronectin 1	909	Fibronectin type-III 4.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCCCTGGGAGAGGGCACTGT	0.493000													5	13					0	0	0.000602	0	0
CD5L	922	broad.mit.edu	37	1	157805786	157805786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157805786C>T	ENST00000368174.4	-	3	311	c.215G>A	c.(214-216)gGa>gAa	p.G72E	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	72	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTAGGGGTTCCGCTGGCAGC	0.542000													90	87					0	0	0.003610	0	0
CHRM3	1131	broad.mit.edu	37	1	240071117	240071117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:240071117G>A	ENST00000255380.4	+	5	1145	c.366G>A	c.(364-366)atG>atA	p.M122I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	122					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.M122I(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TCATTTCAATGAATCTGTTTA	0.473000													47	42					0	0	0.003610	0	0
PLEC	5339	broad.mit.edu	37	8	145006848	145006848	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145006848G>A	ENST00000322810.4	-	15	2350	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y	PLEC_ENST00000356346.3_Silent_p.Y576Y|PLEC_ENST00000354589.3_Silent_p.Y590Y|PLEC_ENST00000436759.2_Silent_p.Y617Y|PLEC_ENST00000345136.3_Silent_p.Y590Y|PLEC_ENST00000527096.1_Silent_p.Y613Y|PLEC_ENST00000354958.2_Silent_p.Y568Y|PLEC_ENST00000398774.2_Silent_p.Y558Y|PLEC_ENST00000357649.2_Silent_p.Y594Y	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	727	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCAGTCACGGTAGGCACCCC	0.721000													4	5					0	0	0.000248	0	0
OR52N1	79473	broad.mit.edu	37	11	5809377	5809377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5809377G>A	ENST00000317078.1	-	1	669	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ACTGCTTGAAGAATCATAGTG	0.478000													21	40					0	0	0.001523	0	0
FGFR2	2263	broad.mit.edu	37	10	123239627	123239627	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123239627C>T	ENST00000351936.6	-	18	2942	c.2295_splice	c.e18-1	p.E766_splice	FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000478859.1_Intron|FGFR2_ENST00000457416.2_Intron|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000346997.2_Intron|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000358487.5_Intron|FGFR2_ENST00000357555.5_Intron			P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	768	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TCCAAGTATTCCTGAAAGAAG	0.443000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				29	41					0	0	0.002096	0	0
GABRG3	2567	broad.mit.edu	37	15	27777932	27777932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:27777932G>A	ENST00000333743.6	+	10	1563	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	437					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TATTCACATAGACATCTTGGA	0.478000													12	19					0	0	0.001855	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283624	40283624	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40283624C>T	ENST00000325157.6	-	2	379	c.129G>A	c.(127-129)ttG>ttA	p.L43L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	43	ENTH.									breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGTTGAAAGTCAAGTCACTGA	0.423000													37	42					0	0	0.003755	0	0
PGD	5226	broad.mit.edu	37	1	10479551	10479551	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:10479551C>T	ENST00000538557.1	+	12	1492	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	PGD_ENST00000270776.8_Silent_p.F429F|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Silent_p.F407F			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	429					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CCCTCTCCTTCTATGACGGGT	0.622000													40	56					0	0	0.001706	0	0
FSIP2	401024	broad.mit.edu	37	2	186672120	186672120	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:186672120C>T	ENST00000343098.5	+	17	18354	c.18354C>T	c.(18352-18354)tcC>tcT	p.S6118S	FSIP2_ENST00000424728.1_Silent_p.S6029S	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAACAATATCCAGCACAAAAA	0.333000													36	68					0	0	0.003271	0	0
KCNA4	3739	broad.mit.edu	37	11	30033653	30033653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30033653C>T	ENST00000328224.6	-	2	1806	c.573G>A	c.(571-573)atG>atA	p.M191I		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	191						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCAGAGTTTTCATTTGGGTCT	0.493000													17	25					0	0	0.006122	0	0
GJA1	2697	broad.mit.edu	37	6	121768107	121768107	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:121768107G>A	ENST00000282561.3	+	2	271	c.114G>A	c.(112-114)ggG>ggA	p.G38G		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	38					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGCTGCTGGGGACAGCGGTTG	0.507000													26	39					0	0	0.001061	0	0
OR6T1	219874	broad.mit.edu	37	11	123813631	123813631	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:123813631C>T	ENST00000321252.2	-	1	949	c.915G>A	c.(913-915)ttG>ttA	p.L305L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGGGCCACCCCAAGGCTTCTC	0.453000													42	52					0	0	0.002222	0	0
SYVN1	84447	broad.mit.edu	37	11	64899811	64899811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64899811G>A	ENST00000526060.1	-	6	631	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	SYVN1_ENST00000307289.6_Intron|SYVN1_ENST00000377190.3_Missense_Mutation_p.L147F|SYVN1_ENST00000526121.1_5'UTR|SYVN1_ENST00000294256.8_Missense_Mutation_p.L147F			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	147					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ATGCCCAGGAGGAACATAAGA	0.597000													14	24					0	0	0.002450	0	0
MGLL	11343	broad.mit.edu	37	3	127414013	127414013	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:127414013G>A	ENST00000434178.2	-	7	1487	c.591C>T	c.(589-591)gaC>gaT	p.D197D	MGLL_ENST00000453507.2_Silent_p.D177D|MGLL_ENST00000398101.3_Silent_p.D171D|MGLL_ENST00000398104.1_Silent_p.D197D|MGLL_ENST00000265052.5_Silent_p.D207D|MGLL_ENST00000476682.1_5'UTR			Q99685	MGLL_HUMAN	monoglyceride lipase	197					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						AGATCAGGGGGTCTGAGTTAT	0.582000													9	17					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179437802	179437802	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179437802A>G	ENST00000589042.1	-	326	73281	c.73057T>C	c.(73057-73059)Tca>Cca	p.S24353P	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15288P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S22712P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15413P|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S21785P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15480P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22712	Fibronectin type-III 77.						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)			GTGATTTCTGAACCACCATCA	0.453000													14	27					0	0	0.001855	0	0
PXDNL	137902	broad.mit.edu	37	8	52387680	52387680	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:52387680C>T	ENST00000356297.4	-	7	646	c.546G>A	c.(544-546)ctG>ctA	p.L182L	PXDNL_ENST00000543296.1_Silent_p.L182L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	182	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGTCACAAACCAGGGCGTTGG	0.483000													26	13					0	0	0.001512	0	0
SNHG14	104472715	broad.mit.edu	37	15	25514957	25514957	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:25514957G>A	ENST00000554726.1	+	0	47				SNORD115-48_ENST00000364764.1_RNA|SNHG14_ENST00000452731.1_RNA																							TTACCTTGAAGAGAAATGATG	0.413000													11	23					0	0	0.001368	0	0
AFF3	3899	broad.mit.edu	37	2	100210137	100210137	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:100210137G>A	ENST00000317233.4	-	14	2221	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	AFF3_ENST00000409579.1_Silent_p.S687S|AFF3_ENST00000356421.2_Silent_p.S687S|AFF3_ENST00000409236.1_Silent_p.S662S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	662					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGAACTCCTTGGATTTGGGGA	0.612000													39	65					0	0	0.003214	0	0
TNS4	84951	broad.mit.edu	37	17	38645133	38645133	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38645133G>A	ENST00000254051.6	-	3	686	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	176	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GAAGGGAGCCGAAGGGCGGGG	0.622000													74	18					0	0	0.003610	0	0
PRKCQ	5588	broad.mit.edu	37	10	6470232	6470232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:6470232C>T	ENST00000263125.5	-	18	2157	c.2058G>A	c.(2056-2058)atG>atA	p.M686I	PRKCQ_ENST00000397176.2_Missense_Mutation_p.M623I|PRKCQ_ENST00000539722.1_Missense_Mutation_p.M561I	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	686	AGC-kinase C-terminal.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TATTCTGGTCCATGCTGTTGA	0.468000													92	127					0	0	0.003610	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284412	52284412	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52284412C>T	ENST00000301190.6	+	5	909	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	ANKRD33_ENST00000538991.1_Silent_p.L34L|ANKRD33_ENST00000340970.4_Silent_p.L103L|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	103										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CAAGACGGCCCTGGAATGGGC	0.627000													11	13					0	0	0.000978	0	0
SCN11A	11280	broad.mit.edu	37	3	38913691	38913691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38913691C>T	ENST00000450244.1	-	20	3686	c.3488G>A	c.(3487-3489)gGa>gAa	p.G1163E	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1125E|SCN11A_ENST00000444237.2_Missense_Mutation_p.G1163E|SCN11A_ENST00000302328.3_Missense_Mutation_p.G1163E			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1163					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TACCTTCATTCCTTCAAACTG	0.453000													51	85					0	0	0.003610	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916531	97916531	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:97916531C>T	ENST00000534948.1	+	0	1309							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CCTTCATATCCTTGTGAAATG	0.363000													86	116					0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170101310	170101310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:170101310G>A	ENST00000263816.3	-	22	3608	c.3323C>T	c.(3322-3324)tCc>tTc	p.S1108F	LRP2_ENST00000443831.1_Missense_Mutation_p.S971F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1108	LDL-receptor class A 10.				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)	GTCAAGGCAGGAAGCAGGTGC	0.527000													44	70					0	0	0.003214	0	0
PLCH1	23007	broad.mit.edu	37	3	155271912	155271912	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:155271912G>A	ENST00000460012.1	-	9	1410	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	PLCH1_ENST00000414191.1_Silent_p.F351F|PLCH1_ENST00000494598.1_Silent_p.F369F|PLCH1_ENST00000334686.6_Silent_p.F351F|PLCH1_ENST00000340059.7_Silent_p.F369F|PLCH1_ENST00000447496.2_Silent_p.F369F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	369	PI-PLC X-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAACATCTCTGAAGAGAATTT	0.453000													24	36					0	0	0.004656	0	0
MAN1A1	4121	broad.mit.edu	37	6	119511042	119511042	+	Missense_Mutation	SNP	C	C	T	rs147835021		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:119511042C>T	ENST00000368468.3	-	10	1774	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	445					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AAATGAGTCTCGATAGCCTGT	0.393000													8	15					0	0	0.000443	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407025	38407025	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38407025C>T	ENST00000322350.5	+	8	1270	c.924C>T	c.(922-924)ctC>ctT	p.L308L	EGFLAM_ENST00000354891.3_Silent_p.L308L|EGFLAM_ENST00000336740.6_Silent_p.L74L|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	308						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTTCTAGGCTCATCCCCCCTA	0.478000													29	41					0	0	0.001512	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963455	73963455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73963455G>A	ENST00000373468.1	-	3	1588	c.937C>T	c.(937-939)Cga>Tga	p.R313*	KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.R313*			Q5QGS0	K2022_HUMAN	KIAA2022	313					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GATTCATATCGAATTTTCAGG	0.418000													40	11					0	0	0.001951	0	0
CSRNP2	81566	broad.mit.edu	37	12	51457691	51457691	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:51457691G>A	ENST00000228515.1	-	5	1767	c.1470C>T	c.(1468-1470)aaC>aaT	p.N490N		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	490					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCTCCTCAGGGTTACAATCTT	0.557000													31	67					0	0	0.004289	0	0
GLB1L3	112937	broad.mit.edu	37	11	134179545	134179545	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:134179545C>T	ENST00000431683.2	+	11	987	c.987C>T	c.(985-987)ttC>ttT	p.F329F		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	329					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGTCTGAATTCATCAAATATG	0.428000													6	13					0	0	0.003080	0	0
C1orf112	55732	broad.mit.edu	37	1	169772407	169772407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:169772407C>T	ENST00000286031.6	+	5	969	c.269C>T	c.(268-270)tCc>tTc	p.S90F	C1orf112_ENST00000359326.4_Missense_Mutation_p.S90F|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Missense_Mutation_p.S61F|C1orf112_ENST00000456684.1_Missense_Mutation_p.S148F	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	90										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTCTCCCCTCCTCAGTCCTT	0.403000													17	31					0	0	0.000958	0	0
ANK3	288	broad.mit.edu	37	10	61832647	61832647	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61832647C>T	ENST00000280772.1	-	37	8183	c.7992G>A	c.(7990-7992)gaG>gaA	p.E2664E	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2664					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGGTGCCTTCTCCTCGGCCT	0.537000													18	29					0	0	0.004990	0	0
ZNF404	342908	broad.mit.edu	37	19	44378014	44378014	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:44378014G>T	ENST00000587539.1	-	3	351	c.352C>A	c.(352-354)Ctt>Att	p.L118I	ZNF404_ENST00000324394.6_Missense_Mutation_p.L116I	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				TGTAGAGGAAGGGATTTATGT	0.338000													8	209					0.00307968	0.0057151	0.003080	1	0
CNTN5	53942	broad.mit.edu	37	11	100061891	100061891	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100061891C>T	ENST00000524871.1	+	14	1904	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	CNTN5_ENST00000528682.1_Silent_p.I538I|CNTN5_ENST00000527185.1_Silent_p.I538I|CNTN5_ENST00000279463.3_Silent_p.I538I|CNTN5_ENST00000418526.2_Silent_p.I464I	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	538	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GTCTACGGATCCTAAATGCTT	0.368000													22	31					0	0	0.002780	0	0
SCNN1B	6338	broad.mit.edu	37	16	23379199	23379199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:23379199C>T	ENST00000343070.2	+	5	975	c.799C>T	c.(799-801)Cct>Tct	p.P267S	SCNN1B_ENST00000568923.1_Missense_Mutation_p.P240S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P312S|SCNN1B_ENST00000568085.1_Missense_Mutation_p.P267S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	267			P -> L (in BESC1; decreased channel activity).		excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CATCTTCTACCCTCACTATGG	0.517000													31	50					0	0	0.003271	0	0
OR4C46	119749	broad.mit.edu	37	11	51515761	51515761	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:51515761C>T	ENST00000328188.1	+	1	480	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F160F(1)		endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGATCCTCTTCATCTTCCAAT	0.468000													30	33					0	0	0.002836	0	0
TTC39A	22996	broad.mit.edu	37	1	51767299	51767299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:51767299C>T	ENST00000447632.2	-	12	1154	c.1106G>A	c.(1105-1107)tGg>tAg	p.W369*	TTC39A_ENST00000371750.5_Nonsense_Mutation_p.W334*|TTC39A_ENST00000371747.3_Nonsense_Mutation_p.W368*|TTC39A_ENST00000413473.2_Nonsense_Mutation_p.W337*|TTC39A_ENST00000262676.5_3'UTR|TTC39A_ENST00000451380.1_Nonsense_Mutation_p.W333*|TTC39A_ENST00000262675.7_Nonsense_Mutation_p.W306*			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	369							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GGACATCTTCCACTGGCCCTT	0.587000													14	16					0	0	0.001855	0	0
PID1	55022	broad.mit.edu	37	2	229890639	229890639	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:229890639G>A	ENST00000392054.3	-	4	795	c.456C>T	c.(454-456)gcC>gcT	p.A152A	PID1_ENST00000392055.3_Silent_p.A121A|PID1_ENST00000409462.1_Silent_p.A72A|PID1_ENST00000354069.6_Silent_p.A154A|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	154	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGTGCACTGTGGCCTCCCCTT	0.592000													29	42					0	0	0.005443	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858522	43858522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:43858522C>T	ENST00000389420.3	-	10	1380	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.E461K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	461	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.E461*(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGAAGACATTCCCCGTAACCA	0.363000													14	28					0	0	0.003163	0	0
TP53BP2	7159	broad.mit.edu	37	1	224009059	224009059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:224009059G>A	ENST00000343537.7	-	2	329	c.38C>T	c.(37-39)aCc>aTc	p.T13I	TP53BP2_ENST00000391878.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	7					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GAGATACACGGTAAGAAACAT	0.413000													96	182					0	0	0.003610	0	0
UPF1	5976	broad.mit.edu	37	19	18976399	18976399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:18976399C>T	ENST00000262803.5	+	22	3321	c.3049C>T	c.(3049-3051)Cgt>Tgt	p.R1017C	UPF1_ENST00000599848.1_Missense_Mutation_p.R1028C	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1028					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CAAGACTGGTCGTGGGGGACG	0.627000													21	30					0	0	0.001523	0	0
DPPA5	340168	broad.mit.edu	37	6	74063680	74063680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:74063680G>A	ENST00000370370.3	-	2	257	c.188C>T	c.(187-189)tCa>tTa	p.S63L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	63	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						GGTGAGGTCTGAAGACTCCAG	0.582000													21	30					0	0	0.003330	0	0
COL7A1	1294	broad.mit.edu	37	3	48610636	48610636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48610636G>A	ENST00000328333.8	-	84	6792	c.6685C>T	c.(6685-6687)Cct>Tct	p.P2229S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2197S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2229	Triple-helical region.				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)		GGGGGTCCAGGAAGTCCCACA	0.602000													7	9					0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100677590	100677590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100677590C>T	ENST00000306151.4	+	3	2957	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	965	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)					CACTTCATCTCCTACAACTGC	0.522000													140	467					0	0	0.003610	0	0
TNPO2	30000	broad.mit.edu	37	19	12826134	12826134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:12826134G>A	ENST00000425528.1	-	8	928	c.571C>T	c.(571-573)Cac>Tac	p.H191Y	TNPO2_ENST00000441499.1_Missense_Mutation_p.H191Y|TNPO2_ENST00000592287.1_Missense_Mutation_p.H191Y|TNPO2_ENST00000450764.2_Missense_Mutation_p.H191Y|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Missense_Mutation_p.H191Y|TNPO2_ENST00000356861.5_Missense_Mutation_p.H191Y			O14787	TNPO2_HUMAN	transportin 2	191					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCGATGGCGTGGGACCTGGCG	0.667000													11	10					0	0	0.000673	0	0
TKT	7086	broad.mit.edu	37	3	53264514	53264514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:53264514G>A	ENST00000462138.1	-	8	1154	c.1066C>T	c.(1066-1068)Ccg>Tcg	p.P356S	TKT_ENST00000423525.2_Missense_Mutation_p.P356S|TKT_ENST00000296289.6_Missense_Mutation_p.P309S|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.P364S			P29401	TKT_HUMAN	transketolase	356					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	AAGCGGTCCGGGTGCTCCTTT	0.602000													9	21					0	0	0.000443	0	0
RNF182	221687	broad.mit.edu	37	6	13977949	13977949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:13977949G>A	ENST00000488300.1	+	3	1122	c.599G>A	c.(598-600)gGa>gAa	p.G200E	RNF182_ENST00000537663.1_Missense_Mutation_p.G200E|RNF182_ENST00000537388.1_Missense_Mutation_p.G200E|RNF182_ENST00000544682.1_Missense_Mutation_p.G200E	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	200						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TTACCCTTAGGAATCTACTTA	0.493000													54	78					0	0	0.003610	0	0
PTPRH	5794	broad.mit.edu	37	19	55707938	55707938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55707938C>T	ENST00000376350.3	-	10	2231	c.2209G>A	c.(2209-2211)Gga>Aga	p.G737R	PTPRH_ENST00000263434.5_Missense_Mutation_p.G559R|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	737	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ACCTTCATTCCGTCCCAGATG	0.627000													21	37					0	0	0.001523	0	0
NOX4	50507	broad.mit.edu	37	11	89166022	89166022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:89166022G>A	ENST00000535633.1	-	7	716	c.406C>T	c.(406-408)Cct>Tct	p.P136S	NOX4_ENST00000413594.2_Missense_Mutation_p.P181S|NOX4_ENST00000343727.5_Missense_Mutation_p.P136S|NOX4_ENST00000534731.1_Missense_Mutation_p.P160S|NOX4_ENST00000525196.1_Missense_Mutation_p.P160S|NOX4_ENST00000542487.1_Missense_Mutation_p.P136S|NOX4_ENST00000532825.1_Missense_Mutation_p.P136S|NOX4_ENST00000528341.1_Missense_Mutation_p.P135S|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_5'UTR|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.P136S|NOX4_ENST00000263317.4_Missense_Mutation_p.P160S|NOX4_ENST00000424319.1_Missense_Mutation_p.P136S	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	160	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)				GTCAGGCCAGGAACTATAAAA	0.348000													7	19					0	0	0.003080	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100004870	100004870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100004870G>A	ENST00000398027.2	-	11	1293	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	ZCWPW1_ENST00000360951.4_Missense_Mutation_p.S350F|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.S229F|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.S229F	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	349	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCAAGATGGGAAGTAAAAAG	0.463000													6	20					0	0	0.001984	0	0
NHSL2	340527	broad.mit.edu	37	X	71360221	71360221	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:71360221A>T	ENST00000373677.1	+	2	2987	c.1725A>T	c.(1723-1725)tcA>tcT	p.S575S	NHSL2_ENST00000510661.1_Silent_p.S710S|NHSL2_ENST00000540800.1_Silent_p.S941S|NHSL2_ENST00000535692.1_Silent_p.S575S			F5H593	F5H593_HUMAN	NHS-like 2	941										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CAGGGGAGTCAACAGCACCCT	0.547000													13	1					0	0	0.001855	0	0
HADHA	3030	broad.mit.edu	37	2	26457131	26457131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:26457131G>A	ENST00000380649.3	-	5	536	c.407C>T	c.(406-408)cCt>cTt	p.P136L	HADHA_ENST00000461025.1_5'UTR|HADHA_ENST00000457468.2_Missense_Mutation_p.P49L	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	136					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGCCACAATAGGCTTTGTGGA	0.433000													29	41					0	0	0.001786	0	0
UNC79	57578	broad.mit.edu	37	14	94052986	94052986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:94052986C>T	ENST00000553484.1	+	21	3002	c.2848C>T	c.(2848-2850)Ccg>Tcg	p.P950S	UNC79_ENST00000393151.2_Missense_Mutation_p.P950S|UNC79_ENST00000256339.4_Missense_Mutation_p.P773S|UNC79_ENST00000555664.1_Missense_Mutation_p.P950S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	950						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCAACAGCTTCCGGTAACATT	0.348000													20	7					0	0	0.002780	0	0
FAT4	79633	broad.mit.edu	37	4	126370701	126370701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126370701C>T	ENST00000394329.3	+	9	8543	c.8530C>T	c.(8530-8532)Cga>Tga	p.R2844*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R1142*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2844	Cadherin 27.				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						TTACAGAATTCGAGTTTCCGC	0.393000													28	29					0	0	0.001061	0	0
MUTYH	4595	broad.mit.edu	37	1	45798461	45798461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:45798461G>A	ENST00000450313.1	-	7	765	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.R156W|MUTYH_ENST00000372110.3_Missense_Mutation_p.R171W|MUTYH_ENST00000372100.5_Missense_Mutation_p.R167W|MUTYH_ENST00000529984.1_Missense_Mutation_p.P54L|MUTYH_ENST00000448481.1_Missense_Mutation_p.R167W|MUTYH_ENST00000372104.1_Missense_Mutation_p.R156W|MUTYH_ENST00000528332.2_Missense_Mutation_p.P68L|MUTYH_ENST00000372098.3_Missense_Mutation_p.R181W|MUTYH_ENST00000354383.6_Missense_Mutation_p.R157W|MUTYH_ENST00000372115.3_Missense_Mutation_p.R170W|MUTYH_ENST00000355498.2_Missense_Mutation_p.R156W|MUTYH_ENST00000488731.2_Missense_Mutation_p.P54L	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	181					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGCAGCCGCCGGCCACGAGAA	0.552000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				30	63					0	0	0.001786	0	0
PTPRK	5796	broad.mit.edu	37	6	128563672	128563672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:128563672G>A	ENST00000368227.3	-	4	937	c.571C>T	c.(571-573)Cct>Tct	p.P191S	PTPRK_ENST00000532331.1_Missense_Mutation_p.P191S|PTPRK_ENST00000368207.3_Missense_Mutation_p.P191S|PTPRK_ENST00000368210.3_Missense_Mutation_p.P191S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.P191S|PTPRK_ENST00000368215.3_Missense_Mutation_p.P191S|PTPRK_ENST00000368226.4_Missense_Mutation_p.P191S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	191	MAM.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTACCACAAGGATAACTCAGT	0.353000													10	34					0	0	0.000978	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31120239	31120239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:31120239G>A	ENST00000304166.4	+	5	566	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E93K|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E93K|ADCYAP1R1_ENST00000409363.1_Intron	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	93					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGGGAGACCGAAACCATTGG	0.562000													15	21					0	0	0.001216	0	0
PSRC1	84722	broad.mit.edu	37	1	109824339	109824339	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:109824339G>A	ENST00000438534.2	-	4	559	c.421C>T	c.(421-423)Cca>Tca	p.P141S	PSRC1_ENST00000409138.2_Missense_Mutation_p.P141S|PSRC1_ENST00000369907.3_Missense_Mutation_p.P141S|PSRC1_ENST00000409267.1_Missense_Mutation_p.P141S|PSRC1_ENST00000369903.2_Missense_Mutation_p.P141S|PSRC1_ENST00000369904.3_Missense_Mutation_p.P141S|PSRC1_ENST00000369909.2_Missense_Mutation_p.P141S	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	141	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		AGGCTGCTTGGGGAGGGGGTG	0.597000													143	191					0	0	0.003610	0	0
LRRC16A	55604	broad.mit.edu	37	6	25488746	25488746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:25488746C>T	ENST00000329474.6	+	13	1366	c.998C>T	c.(997-999)cCa>cTa	p.P333L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	333					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGTGCCAATCCATTGACCGCC	0.473000													58	75					0	0	0.003610	0	0
CDH12	1010	broad.mit.edu	37	5	21817074	21817074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:21817074C>T	ENST00000382254.1	-	9	2068	c.982G>A	c.(982-984)Gga>Aga	p.G328R	CDH12_ENST00000504376.2_Missense_Mutation_p.G328R|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.G288R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	328	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGATGACTCCCTCTTGTGTA	0.318000										HNSCC(59;0.17)			51	99					0	0	0.003610	0	0
TRIM21	6737	broad.mit.edu	37	11	4406760	4406760	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4406760G>A	ENST00000254436.7	-	7	1295	c.1183C>T	c.(1183-1185)Cag>Tag	p.Q395*	TRIM21_ENST00000543625.1_Nonsense_Mutation_p.Q395*	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	395	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AGGGGAGTCTGGGGGTAGGTG	0.517000													6	5					0	0	0.001984	0	0
SCN8A	6334	broad.mit.edu	37	12	52096571	52096571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52096571G>A	ENST00000354534.5	+	9	1185	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	SCN8A_ENST00000545061.1_Missense_Mutation_p.G336E|SCN8A_ENST00000550891.1_Missense_Mutation_p.G336E	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	336					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGCCCAGAGGGATACCAGTGT	0.413000													7	9					0	0	0.004482	0	0
FOXP1	27086	broad.mit.edu	37	3	71021800	71021800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:71021800G>A	ENST00000318789.4	-	18	2083	c.1558C>T	c.(1558-1560)Cac>Tac	p.H520Y	FOXP1_ENST00000484350.1_Missense_Mutation_p.H444Y|FOXP1_ENST00000498215.1_Missense_Mutation_p.H520Y|FOXP1_ENST00000493089.1_Missense_Mutation_p.H519Y|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000491238.1_Missense_Mutation_p.H522Y|FOXP1_ENST00000475937.1_Missense_Mutation_p.H520Y	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	520					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.L519_C522delLHKC(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AAACACTTGTGAAGACTAAGA	0.383000			T	PAX5	ALL								19	31					0	0	0.001523	0	0
HOXD12	3238	broad.mit.edu	37	2	176965348	176965348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:176965348G>A	ENST00000406506.2	+	2	745	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	HOXD12_ENST00000404162.2_Missense_Mutation_p.R234Q			P35452	HXD12_HUMAN	homeobox D12	225						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCTCGTCAACGAATTCATCAA	0.552000													6	10					0	0	0.001168	0	0
SRCAP	10847	broad.mit.edu	37	16	30740728	30740728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:30740728C>T	ENST00000262518.4	+	27	6347	c.5962C>T	c.(5962-5964)Cct>Tct	p.P1988S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1926S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1830S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1988					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCACCTCCCCCTTCCCTGCA	0.582000													8	19					0	0	0.003080	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377397	60377397	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:60377397G>A	ENST00000371204.3	-	4	610	c.567C>T	c.(565-567)tcC>tcT	p.S189S	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	189					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AAATGATATTGGAAACTGCAT	0.448000													51	72					0	0	0.003610	0	0
DES	1674	broad.mit.edu	37	2	220286069	220286069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:220286069C>T	ENST00000373960.3	+	6	1117	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	344	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	p.S344F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CAGAACGATTCCCTGATGAGG	0.582000													15	28					0	0	0.001523	0	0
BNC1	646	broad.mit.edu	37	15	83933105	83933105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:83933105C>T	ENST00000345382.2	-	4	983	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	BNC1_ENST00000569704.1_Missense_Mutation_p.E293K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	300					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGATCTTTTTCAACCTGAAAT	0.448000													33	47					0	0	0.002445	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197648	44197648	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:44197648C>T	ENST00000393841.1	+	6	810	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371724.1_Missense_Mutation_p.P107S|SLC29A1_ENST00000393844.1_Missense_Mutation_p.P107S|SLC29A1_ENST00000371740.5_Missense_Mutation_p.P107S|SLC29A1_ENST00000371713.1_Missense_Mutation_p.P107S|SLC29A1_ENST00000313248.7_Missense_Mutation_p.P186S|SLC29A1_ENST00000371755.3_Missense_Mutation_p.P107S|SLC29A1_ENST00000427851.2_Missense_Mutation_p.P107S|SLC29A1_ENST00000371731.1_Missense_Mutation_p.P107S|SLC29A1_ENST00000371708.1_Missense_Mutation_p.P107S	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	107					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CGGCAGGATCCCCCAGTCCGT	0.637000													17	16					0	0	0.004007	0	0
DNAH9	1770	broad.mit.edu	37	17	11671837	11671837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:11671837C>T	ENST00000262442.3	+	37	7306	c.7238C>T	c.(7237-7239)tCc>tTc	p.S2413F	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2413F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2413					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGTTTCCTTCCCAAGGAACC	0.502000													44	6					0	0	0.001951	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996386	140996386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:140996386C>T	ENST00000285879.4	+	4	3482	c.3196C>T	c.(3196-3198)Cgt>Tgt	p.R1066C	MAGEC1_ENST00000406005.2_Missense_Mutation_p.R133C	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1066	MAGE.						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)					TTCTCCTCCTCGTTACGAATT	0.493000										HNSCC(15;0.026)			55	4					0	0	0.003610	0	0
TGFA	7039	broad.mit.edu	37	2	70692814	70692814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:70692814G>A	ENST00000295400.6	-	3	396	c.149C>T	c.(148-150)tCc>tTc	p.S50F	TGFA_ENST00000418333.2_Missense_Mutation_p.S49F|TGFA_ENST00000444975.1_Missense_Mutation_p.S56F|TGFA_ENST00000450929.1_Missense_Mutation_p.S55F|TGFA_ENST00000460808.1_5'UTR|TGFA_ENST00000445399.1_Missense_Mutation_p.S49F	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	50	EGF-like.				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CTGAGTGTGGGAATCTGGGCA	0.557000													18	18					0	0	0.001523	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336624	30336624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:30336624C>T	ENST00000375377.1	-	2	219	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	40										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGCCCTGGCCTGCTCGTGTC	0.637000													19	26					0	0	0.000958	0	0
AP3B2	8120	broad.mit.edu	37	15	83349688	83349688	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:83349688G>A	ENST00000261722.3	-	7	879	c.672C>T	c.(670-672)ctC>ctT	p.L224L	AP3B2_ENST00000535359.1_Silent_p.L224L|AP3B2_ENST00000535348.1_Silent_p.L192L|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	224					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCAGGTTACAGAGTTTCCGGT	0.597000													13	17					0	0	0.001368	0	0
PREX2	80243	broad.mit.edu	37	8	69058566	69058566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:69058566C>T	ENST00000288368.4	+	34	4487	c.4210C>T	c.(4210-4212)Cat>Tat	p.H1404Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1404					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTAAAATTCATCCTGTTCT	0.318000													41	35					0	0	0.001706	0	0
BAHD1	22893	broad.mit.edu	37	15	40750727	40750727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:40750727C>T	ENST00000561234.1	+	2	323	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	BAHD1_ENST00000416165.1_Missense_Mutation_p.P22S|BAHD1_ENST00000560846.1_Missense_Mutation_p.P22S			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	22					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCGCCGAGAGCCCCTGCAGAT	0.602000													27	49					0	0	0.005443	0	0
ASCC2	84164	broad.mit.edu	37	22	30209463	30209463	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:30209463G>A	ENST00000397771.2	-	9	966	c.789C>T	c.(787-789)ttC>ttT	p.F263F	ASCC2_ENST00000478812.1_5'UTR|ASCC2_ENST00000542393.1_Silent_p.F187F|ASCC2_ENST00000307790.3_Silent_p.F263F			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			AAGCCAAAGGGAAGATATCCA	0.418000													26	42					0	0	0.004656	0	0
CMTR1	23070	broad.mit.edu	37	6	37429775	37429775	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:37429775C>T	ENST00000373451.4	+	12	1386	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	FTSJD2_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		408					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						AACCTTTGACCTGTTCACACC	0.473000													78	94					0	0	0.003610	0	0
HEMGN	55363	broad.mit.edu	37	9	100693345	100693345	+	Missense_Mutation	SNP	G	G	A	rs139664531	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:100693345G>A	ENST00000259456.3	-	4	475	c.332C>T	c.(331-333)cCt>cTt	p.P111L		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	111					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TATGCTCCCAGGTGGCTCAGT	0.418000													64	12					0	0	0.003610	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152748928G>A	ENST00000334371.2	+	1	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000													22	17					0	0	0.003330	0	0
MBD5	55777	broad.mit.edu	37	2	149247034	149247034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:149247034C>T	ENST00000407073.1	+	12	4131	c.3134C>T	c.(3133-3135)cCa>cTa	p.P1045L	MBD5_ENST00000404807.1_Missense_Mutation_p.P1278L	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1045						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCTGAGAATCCAAACACTACA	0.473000													18	26					0	0	0.000958	0	0
POM121L12	285877	broad.mit.edu	37	7	53103599	53103599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:53103599G>A	ENST00000408890.4	+	1	251	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	79								p.E79K(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCACCTCATCGAGGTGCGGCC	0.711000													11	12					0	0	0.000978	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764320	109764320	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:109764320G>A	ENST00000602699.1	+	0	781					NR_002718.2																						GAATTAAAGCGATGCTAACGC	0.408000													18	6					0	0	0.000958	0	0
LILRB4	11006	broad.mit.edu	37	19	55177872	55177872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55177872C>T	ENST00000391736.1	+	11	1288	c.973C>T	c.(973-975)Cag>Tag	p.Q325*	LILRB4_ENST00000430952.2_Nonsense_Mutation_p.Q325*|LILRB4_ENST00000270452.2_Nonsense_Mutation_p.Q325*|LILRB4_ENST00000391734.3_Nonsense_Mutation_p.Q325*|LILRB4_ENST00000391733.3_Nonsense_Mutation_p.Q325*	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	325						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TGCTGACGTCCAGGGAGAAAA	0.587000													12	28					0	0	0.001855	0	0
TCF21	6943	broad.mit.edu	37	6	134210670	134210670	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:134210670G>A	ENST00000367882.4	+	1	395	c.135G>A	c.(133-135)gaG>gaA	p.E45E	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.E45E	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	45					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CCAACTGCGAGAATGGGTCTC	0.592000													9	18					0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179430965	179430965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179430965C>T	ENST00000589042.1	-	326	80118	c.79894G>A	c.(79894-79896)Gaa>Aaa	p.E26632K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17567K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24991K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E17692K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E24064K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17759K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24991	Fibronectin type-III 94.						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)			TCTGTGAATTCACCTTCCTCT	0.388000													70	79					0	0	0.003610	0	0
PTCHD2	57540	broad.mit.edu	37	1	11586830	11586830	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:11586830C>T	ENST00000294484.6	+	13	2874	c.2736C>T	c.(2734-2736)gcC>gcT	p.A912A	PTCHD2_ENST00000389575.3_Silent_p.A912A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	912					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)		CCTGTGATGCCAAGCGGGGCT	0.607000													18	34					0	0	0.001216	0	0
IGF1	3479	broad.mit.edu	37	12	102869512	102869512	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:102869512G>A	ENST00000456098.1	-	2	347	c.129C>T	c.(127-129)acC>acT	p.T43T	IGF1_ENST00000424202.2_Silent_p.T27T|IGF1_ENST00000337514.6_Silent_p.T43T|IGF1_ENST00000392904.1_Silent_p.T43T|IGF1_ENST00000307046.8_Silent_p.T43T	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	43					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TGGCAGAGCTGGTGAAGGTGA	0.577000													13	33					0	0	0.002450	0	0
IQUB	154865	broad.mit.edu	37	7	123092841	123092841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:123092841C>T	ENST00000466202.1	-	13	2908	c.2332G>A	c.(2332-2334)Gac>Aac	p.D778N	IQUB_ENST00000324698.6_Missense_Mutation_p.D778N			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	778										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GGTGTTGTGTCTGAGTGATAC	0.398000													26	26					0	0	0.005443	0	0
OR51B6	390058	broad.mit.edu	37	11	5373349	5373349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5373349G>A	ENST00000380219.1	+	1	612	c.612G>A	c.(610-612)atG>atA	p.M204I	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTTGCAATGGTCTTGTTGG	0.443000													32	48					0	0	0.003755	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564327	140564327	+	Silent	SNP	C	C	T	rs17844667		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140564327C>T	ENST00000361016.2	+	1	3348	c.2193C>T	c.(2191-2193)ccC>ccT	p.P731P		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		731					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGGGCCCCTTTCCAGGGC	0.637000													43	16					0	0	0.003214	0	0
UBA6	55236	broad.mit.edu	37	4	68500030	68500030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:68500030G>A	ENST00000322244.4	-	22	2002	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	648					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTGGGAAAAGGAACTTTCAAA	0.269000													27	44					0	0	0.002445	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808982	18808982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:18808982G>A	ENST00000400664.1	+	1	1559	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	503						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCCCCAAGGAAGACTCCGG	0.697000													31	33					0	0	0.002096	0	0
DSCAM	1826	broad.mit.edu	37	21	41719772	41719772	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41719772G>A	ENST00000400454.1	-	6	1512	c.1035C>T	c.(1033-1035)ctC>ctT	p.L345L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	345	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTACCAGGAGAGTTCCTGGT	0.493000													44	60					0	0	0.002522	0	0
CCDC141	285025	broad.mit.edu	37	2	179742668	179742668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179742668G>A	ENST00000409284.1	-	12	2039	c.1922C>T	c.(1921-1923)tCa>tTa	p.S641L	CCDC141_ENST00000295723.5_Intron|CCDC141_ENST00000420890.2_Intron			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	0							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAGAAGGTGTGATCCATTTAA	0.348000													26	27					0	0	0.004656	0	0
GPR148	344561	broad.mit.edu	37	2	131487351	131487351	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:131487351C>T	ENST00000309926.4	+	1	709	c.627C>T	c.(625-627)acC>acT	p.T209T		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GCATGGGCACCCAGCCGGGAT	0.547000													29	54					0	0	0.003755	0	0
C10orf107	219621	broad.mit.edu	37	10	63519931	63519931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:63519931G>A	ENST00000330194.2	+	5	708	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	135										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					ATTGGATACGGAAATGAAGGT	0.383000													19	41					0	0	0.001523	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420266	55420266	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55420266G>C	ENST00000242994.3	+	2	421	c.43G>C	c.(43-45)Gtc>Ctc	p.V15L		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	15					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGGAGAGCTAGTCAACACACC	0.433000													18	28					0	0	0.001882	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460303	107460303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:107460303G>A	ENST00000409382.3	-	2	741	c.131C>T	c.(130-132)tCc>tTc	p.S44F	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S44F|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S44F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	44					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTCCAGGAAGGAGAGGGAGCT	0.627000													10	16					0	0	0.000443	0	0
ZNF415	55786	broad.mit.edu	37	19	53619571	53619571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:53619571G>A	ENST00000594011.1	-	4	389	c.131C>T	c.(130-132)tCc>tTc	p.S44F	ZNF415_ENST00000455735.2_Silent_p.L23L|ZNF415_ENST00000243643.4_Missense_Mutation_p.S44F|ZNF415_ENST00000448501.1_Silent_p.L23L|ZNF415_ENST00000600574.1_Missense_Mutation_p.S44F|ZNF415_ENST00000601493.1_Intron|ZNF415_ENST00000421033.1_Silent_p.L23L|ZNF415_ENST00000500065.4_Missense_Mutation_p.S44F|ZNF415_ENST00000597748.1_Missense_Mutation_p.S44F|ZNF415_ENST00000599261.1_Missense_Mutation_p.S44F|ZNF415_ENST00000601215.1_Intron|ZNF415_ENST00000595813.1_Missense_Mutation_p.S44F|ZNF415_ENST00000595193.1_Missense_Mutation_p.S44F|ZNF415_ENST00000597503.1_Missense_Mutation_p.S44F|ZNF415_ENST00000596683.1_5'UTR|ZNF415_ENST00000440291.1_5'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CTCACCCAGGGAGACCAGGTT	0.473000													58	73					0	0	0.003610	0	0
HCRTR1	3061	broad.mit.edu	37	1	32089222	32089222	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:32089222G>A	ENST00000403528.2	+	7	1222	c.837G>A	c.(835-837)cgG>cgA	p.R279R	HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Silent_p.R279R|HCRTR1_ENST00000373706.5_Silent_p.R279R	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	279			R -> Q (in dbSNP:rs7516785).		feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		CCCAGCCCCGGGCCCGCGCCT	0.662000													15	15					0	0	0.004990	0	0
NCOR2	9612	broad.mit.edu	37	12	124831142	124831142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124831142G>A	ENST00000356219.3	-	32	4503	c.4348C>T	c.(4348-4350)Ccg>Tcg	p.P1450S	NCOR2_ENST00000404121.2_Missense_Mutation_p.P1004S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1433S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1434S|NCOR2_ENST00000405201.1_Missense_Mutation_p.P1443S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1433S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1451					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGCGGCCGCGGGGCCAGGGGC	0.731000													8	10					0	0	0.000673	0	0
EEF2	1938	broad.mit.edu	37	19	3977564	3977564	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3977564G>A	ENST00000309311.6	-	13	2200	c.2112C>T	c.(2110-2112)gtC>gtT	p.V704V		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	704						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACGTCGTGGACGTCGAAGC	0.692000													5	8					0	0	0.001168	0	0
TRPC4	7223	broad.mit.edu	37	13	38211237	38211237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:38211237C>T	ENST00000379705.3	-	11	3594	c.2737G>A	c.(2737-2739)Gaa>Aaa	p.E913K	TRPC4_ENST00000355779.2_Missense_Mutation_p.E772K|TRPC4_ENST00000358477.2_Missense_Mutation_p.E829K|TRPC4_ENST00000338947.5_Missense_Mutation_p.E740K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.E764K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E740K|TRPC4_ENST00000447043.1_Missense_Mutation_p.E772K|TRPC4_ENST00000379681.3_Missense_Mutation_p.E918K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	913	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTATTCCTTTCTCTATGGTCT	0.463000													20	44					0	0	0.001523	0	0
OR10K2	391107	broad.mit.edu	37	1	158389972	158389972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158389972G>A	ENST00000314902.2	-	1	684	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGTGTGGAAGGAAACTGAAGT	0.448000													33	29					0	0	0.004289	0	0
HRASLS5	117245	broad.mit.edu	37	11	63230976	63230976	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:63230976C>T	ENST00000540857.1	-	6	941	c.809G>A	c.(808-810)tGa>tAa	p.*270*	HRASLS5_ENST00000301790.4_Silent_p.*280*|HRASLS5_ENST00000539221.1_3'UTR	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	0										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCATCACCTTCAGGCAGTTAT	0.468000													43	105					0	0	0.003610	0	0
NLRP2	55655	broad.mit.edu	37	19	55495086	55495086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55495086G>A	ENST00000543010.1	+	6	2163	c.2020G>A	c.(2020-2022)Gag>Aag	p.E674K	NLRP2_ENST00000427260.2_Missense_Mutation_p.E651K|NLRP2_ENST00000538819.1_Missense_Mutation_p.E650K|NLRP2_ENST00000537859.1_Missense_Mutation_p.E652K|NLRP2_ENST00000448584.2_Missense_Mutation_p.E674K|NLRP2_ENST00000263437.6_Missense_Mutation_p.E671K|NLRP2_ENST00000339757.7_Missense_Mutation_p.E652K|NLRP2_ENST00000391721.4_Missense_Mutation_p.E650K	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	674					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATCAGACGCCGAGGTTGAGAG	0.512000													29	31					0	0	0.002445	0	0
ST18	9705	broad.mit.edu	37	8	53045668	53045668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:53045668C>T	ENST00000276480.7	-	21	3076	c.2393G>A	c.(2392-2394)gGt>gAt	p.G798D		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	798						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTTGACACCACCTTTCCTTGC	0.468000													61	53					0	0	0.003610	0	0
SERBP1	26135	broad.mit.edu	37	1	67878897	67878897	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:67878897A>G	ENST00000370994.4	-	8	1271	c.1157T>C	c.(1156-1158)cTg>cCg	p.L386P	SERBP1_ENST00000370995.2_Missense_Mutation_p.L407P|SERBP1_ENST00000361219.6_Missense_Mutation_p.L392P|SERBP1_ENST00000370990.5_Missense_Mutation_p.L401P	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	407					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CAGTTAAGCCAGAGCTGGGAA	0.408000													15	12					0	0	0.004990	0	0
IQCA1	79781	broad.mit.edu	37	2	237405839	237405839	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:237405839G>A	ENST00000409907.3	-	2	577	c.303C>T	c.(301-303)ttC>ttT	p.F101F	IQCA1_ENST00000309507.5_Silent_p.F97F|IQCA1_ENST00000431676.2_Silent_p.F101F			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	101							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GGATATCATCGAAATAATGGA	0.453000													9	8					0	0	0.000673	0	0
ABCE1	6059	broad.mit.edu	37	4	146044633	146044633	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:146044633C>T	ENST00000296577.4	+	16	2036	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	507	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTTTTAGTTTCATACTCCATG	0.353000													26	36					0	0	0.001061	0	0
OR13C9	286362	broad.mit.edu	37	9	107380206	107380206	+	Missense_Mutation	SNP	A	A	G	rs76976154		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:107380206A>G	ENST00000259362.1	-	1	279	c.280T>C	c.(280-282)Ttt>Ctt	p.F94L		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CAGCCAGAAAAGGAAATGGTC	0.507000													8	97					0	0	0.003163	0	0
AKR1B10	57016	broad.mit.edu	37	7	134215495	134215495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:134215495G>A	ENST00000359579.4	+	2	487	c.167G>A	c.(166-168)gGg>gAg	p.G56E	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	56					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CATGAAGTGGGGGAAGCCATC	0.502000													48	87					0	0	0.003610	0	0
UNC93A	54346	broad.mit.edu	37	6	167705012	167705012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:167705012C>T	ENST00000230256.3	+	1	210	c.35C>T	c.(34-36)tCc>tTc	p.S12F	UNC93A_ENST00000366829.2_Missense_Mutation_p.S12F|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	12						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTGTGGTTTCCTTTGGGTTC	0.453000													31	46					0	0	0.003271	0	0
OC90	729330	broad.mit.edu	37	8	133036768	133036768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133036768G>A	ENST00000262283.5	-	18	2129	c.2030C>T	c.(2029-2031)tCa>tTa	p.S677L	OC90_ENST00000254627.3_Missense_Mutation_p.S465L|OC90_ENST00000603859.1_Missense_Mutation_p.S465L|OC90_ENST00000443356.2_Missense_Mutation_p.S481L			Q02509	OC90_HUMAN	otoconin 90	481					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGGACCCAGTGACTTCCGCAG	0.612000													13	20					0	0	0.001855	0	0
PDCD4	27250	broad.mit.edu	37	10	112635822	112635822	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:112635822C>T	ENST00000280154.7	+	2	311	c.37C>T	c.(37-39)Cct>Tct	p.P13S	PDCD4_ENST00000393104.2_5'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	13					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GAATGTAAACCCTGCAGGTAA	0.393000													10	23					0	0	0.000443	0	0
PIAS3	10401	broad.mit.edu	37	1	145584814	145584814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:145584814C>T	ENST00000393045.2	+	13	1688	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L	PIAS3_ENST00000369298.1_Missense_Mutation_p.S498L	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	533					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATTTATTTTCATTTCTTCAG	0.438000													13	56					0	0	0.002450	0	0
DCDC1	341019	broad.mit.edu	37	11	30928197	30928197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30928197C>T	ENST00000597505.1	-	28	3993	c.3994G>A	c.(3994-3996)Gag>Aag	p.E1332K	DCDC1_ENST00000406071.2_Missense_Mutation_p.E67K|DCDC1_ENST00000339794.5_Missense_Mutation_p.E411K			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGTCCTTTCTCTGTTCTCATG	0.453000													12	21					0	0	0.001855	0	0
COL4A4	1286	broad.mit.edu	37	2	227963449	227963449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:227963449G>A	ENST00000396625.3	-	19	1372	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P389S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	389	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGACCTGGGGGACCAGGTGGT	0.552000													11	26					0	0	0.001368	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288944	98288944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:98288944G>A	ENST00000322128.3	-	1	1232	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	377					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)					AACTGCAAGGGATTGGGCCAC	0.463000													69	203					0	0	0.003610	0	0
SDC3	9672	broad.mit.edu	37	1	31346183	31346183	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:31346183A>C	ENST00000336798.7	-	3	2522	c.1030T>G	c.(1030-1032)Ttc>Gtc	p.F344V	SDC3_ENST00000339394.6_Missense_Mutation_p.F402V			O75056	SDC3_HUMAN	syndecan 3	402						integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACCAAGAAGGCAGCAAAG	0.577000													13	38					0	0	0.002450	0	0
KIF21B	23046	broad.mit.edu	37	1	200967635	200967635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:200967635C>T	ENST00000332129.2	-	14	2270	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	KIF21B_ENST00000422435.2_Missense_Mutation_p.E652K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E652K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E652K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	652					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D651delD(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCTCCAGCTCGTCGATCAGC	0.567000													51	52					0	0	0.003610	0	0
SCARF2	91179	broad.mit.edu	37	22	20783619	20783619	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:20783619G>A	ENST00000405555.3	-	9	1503	c.1433C>T	c.(1432-1434)tCg>tTg	p.S478L	SCARF2_ENST00000266214.5_Missense_Mutation_p.S483L	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	478					cell adhesion	integral to membrane	protein binding|receptor activity	p.S483L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CCTCCCAAGCGAAAGCTCCCT	0.697000													4	7					0	0	0.000248	0	0
ABCC9	10060	broad.mit.edu	37	12	21965021	21965021	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21965021G>A	ENST00000261200.4	-	34	4172	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	ABCC9_ENST00000261201.4_Silent_p.I1391I|ABCC9_ENST00000345162.2_Silent_p.I1355I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1391	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTGCAGAATGATTGAAAGTC	0.383000													37	58					0	0	0.004878	0	0
SCAMP3	10067	broad.mit.edu	37	1	155227153	155227153	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155227153G>A	ENST00000355379.3	-	6	902	c.624C>T	c.(622-624)ttC>ttT	p.F208F	SCAMP3_ENST00000302631.3_Silent_p.F234F|SCAMP3_ENST00000472397.1_5'UTR	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	234					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGAAGAAAACGAAGAAATTGA	0.488000													11	17					0	0	0.000978	0	0
NEURL4	84461	broad.mit.edu	37	17	7227207	7227207	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7227207G>A	ENST00000399464.2	-	12	2202	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	NEURL4_ENST00000570460.1_Silent_p.I707I|NEURL4_ENST00000315614.7_Silent_p.I729I	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCCGTTAGTGATGACTGCGT	0.612000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	14					0	0	0.003610	0	0
GTF3C1	2975	broad.mit.edu	37	16	27480632	27480632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:27480632G>A	ENST00000356183.4	-	32	5069	c.5054C>T	c.(5053-5055)cCc>cTc	p.P1685L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P1685L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1685						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAGCCGGGCGGGCACAGGGGT	0.657000													8	5					0	0	0.004482	0	0
MPEG1	219972	broad.mit.edu	37	11	58979245	58979245	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:58979245T>G	ENST00000361050.3	-	1	1179	c.1094A>C	c.(1093-1095)gAt>gCt	p.D365A		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	365						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGAGCCATCATCCGTGTTGGC	0.488000													35	53					0	0	0.003271	0	0
CUL5	8065	broad.mit.edu	37	11	107917082	107917082	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:107917082A>G	ENST00000393094.2	+	3	836	c.220A>G	c.(220-222)Aag>Gag	p.K74E		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	74					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGAGTTTATTAAGCAAGCACA	0.318000													17	31					0	0	0.000958	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763940	92763940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92763940C>T	ENST00000318238.4	-	5	2561	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E449K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E449K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	449										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCATAGATTCAGGATCAAAC	0.353000													59	55					0	0	0.003610	0	0
BSN	8927	broad.mit.edu	37	3	49689667	49689667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49689667C>T	ENST00000296452.4	+	5	2792	c.2678C>T	c.(2677-2679)cCc>cTc	p.P893L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	893					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCAGCACTGCCCAAGAGGCGC	0.657000													4	9					0	0	0.000602	0	0
INHBC	3626	broad.mit.edu	37	12	57843565	57843565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57843565G>A	ENST00000309668.2	+	2	946	c.819G>A	c.(817-819)atG>atA	p.M273I	INHBC_ENST00000550133.1_Intron	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	273					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GCTACGCCATGAACTTCTGCA	0.542000													21	20					0	0	0.001523	0	0
SLC25A37	51312	broad.mit.edu	37	8	23429014	23429014	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:23429014C>T	ENST00000519973.1	+	4	861	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	221					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCTATGAGTTCCTGCAGGAGC	0.657000													23	4					0	0	0.003954	0	0
SLC34A2	10568	broad.mit.edu	37	4	25676244	25676244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:25676244C>T	ENST00000382051.3	+	12	1501	c.1451C>T	c.(1450-1452)tCa>tTa	p.S484L	SLC34A2_ENST00000503434.1_Missense_Mutation_p.S483L|SLC34A2_ENST00000504570.1_Missense_Mutation_p.S483L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	484					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTGAGGAGTTCACTCCAGGTC	0.602000			T	ROS1	NSCLC								31	54					0	0	0.001786	0	0
POU6F2	11281	broad.mit.edu	37	7	39472834	39472834	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:39472834G>A	ENST00000518318.2	+	7	1227	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V	POU6F2_ENST00000403058.1_Silent_p.V395V|POU6F2_ENST00000559001.1_Silent_p.V340V			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	395	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						TCCTGCCCGTGATCAACACCC	0.602000													13	19					0	0	0.006122	0	0
ZNRF1	84937	broad.mit.edu	37	16	75033985	75033985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:75033985C>T	ENST00000335325.4	+	1	1058	c.416C>T	c.(415-417)tCg>tTg	p.S139L	ZNRF1_ENST00000566250.1_Missense_Mutation_p.S139L|ZNRF1_ENST00000320619.6_Missense_Mutation_p.S139L|ZNRF1_ENST00000567962.1_Missense_Mutation_p.S139L	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	139						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						TGGTTCAGCTCGCATAGTGGT	0.672000													4	8					0	0	0.000602	0	0
XIRP2	129446	broad.mit.edu	37	2	168103905	168103905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168103905G>A	ENST00000409195.1	+	9	6092	c.6003G>A	c.(6001-6003)atG>atA	p.M2001I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M2001I|XIRP2_ENST00000409273.1_Missense_Mutation_p.M1779I|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1826					actin cytoskeleton organization	cell junction	actin binding	p.M2001I(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCAAACTATGGGGAAATCTT	0.453000													19	36					0	0	0.001882	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58178531	58178531	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:58178531C>T	ENST00000318316.3	-	10	1286		c.e10-1		DNASE1L3_ENST00000486455.1_Splice_Site|DNASE1L3_ENST00000483681.1_3'UTR|DNASE1L3_ENST00000394549.2_Splice_Site			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3						apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CATCCAGGGCCTATAAGGAGA	0.448000													18	37					0	0	0.001216	0	0
BCL6B	255877	broad.mit.edu	37	17	6930093	6930093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:6930093G>A	ENST00000293805.5	+	7	1216	c.1124G>A	c.(1123-1125)aGc>aAc	p.S375N		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	375						nucleus	zinc ion binding			skin(1)	1						AAAACGCACAGCCGCATCCAT	0.567000													49	9					0	0	0.003610	0	0
RPRD2	23248	broad.mit.edu	37	1	150445749	150445749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:150445749C>T	ENST00000401000.4	+	10	4312	c.4247C>T	c.(4246-4248)cCt>cTt	p.P1416L	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.P1442L			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1442	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCCAGGCCACCTTTTGCTAGG	0.512000													30	64					0	0	0.002096	0	0
DMBT1	1755	broad.mit.edu	37	10	124389355	124389355	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124389355G>A	ENST00000368909.3	+	44	5387		c.e44-1		DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000338354.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000359586.6_Splice_Site	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						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)				CTCCTCTCTAGGACCCTCTTC	0.458000													41	79					0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10408756	10408756	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10408756G>A	ENST00000226207.5	-	20	2341	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	749	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.L750M(2)		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						TGGACCCCAGGAGCTTCTCTG	0.403000													54	14					0	0	0.003610	0	0
PSRC1	84722	broad.mit.edu	37	1	109824340	109824340	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:109824340G>A	ENST00000438534.2	-	4	558	c.420C>T	c.(418-420)tcC>tcT	p.S140S	PSRC1_ENST00000409138.2_Silent_p.S140S|PSRC1_ENST00000369907.3_Silent_p.S140S|PSRC1_ENST00000409267.1_Silent_p.S140S|PSRC1_ENST00000369903.2_Silent_p.S140S|PSRC1_ENST00000369904.3_Silent_p.S140S|PSRC1_ENST00000369909.2_Silent_p.S140S	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	140	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GGCTGCTTGGGGAGGGGGTGC	0.602000													146	187					0	0	0.003610	0	0
TMEM81	388730	broad.mit.edu	37	1	205053191	205053191	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:205053191G>A	ENST00000367167.3	-	1	454	c.258C>T	c.(256-258)atC>atT	p.I86I		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	86	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GCATCCCACAGATCCAGTTGG	0.502000													32	55					0	0	0.003271	0	0
WDR44	54521	broad.mit.edu	37	X	117576579	117576579	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:117576579T>A	ENST00000254029.3	+	17	2715	c.2320T>A	c.(2320-2322)Ttg>Atg	p.L774M	WDR44_ENST00000371825.3_Missense_Mutation_p.L774M|WDR44_ENST00000371822.5_Missense_Mutation_p.L685M	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	774						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						TTTGAGAGATTTGTCACTATC	0.343000													34	9					0	0	0.001706	0	0
CLCA1	1179	broad.mit.edu	37	1	86959980	86959980	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:86959980G>A	ENST00000234701.3	+	12	2142	c.1791G>A	c.(1789-1791)acG>acA	p.T597T	CLCA1_ENST00000394711.1_Silent_p.T597T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	597					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTTCCAAAACGAACAAGGACA	0.517000													9	14					0	0	0.000978	0	0
SLC9C2	284525	broad.mit.edu	37	1	173569306	173569306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:173569306G>A	ENST00000367714.3	-	3	600	c.178C>T	c.(178-180)Ctt>Ttt	p.L60F	SLC9C2_ENST00000536496.1_Intron|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	60					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GATAGAGAAAGAATCGTCAAA	0.333000													41	41					0	0	0.002852	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099663	142099663	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142099663C>T	ENST00000390359.3	-	0	177																											GATACATGACCCGAAATTGGA	0.507000													53	4					0	0	0.003610	0	0
APC	324	broad.mit.edu	37	5	112178327	112178327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:112178327C>T	ENST00000457016.1	+	16	7416	c.7036C>T	c.(7036-7038)Cca>Tca	p.P2346S	APC_ENST00000508376.2_Missense_Mutation_p.P2346S|APC_ENST00000257430.4_Missense_Mutation_p.P2346S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2346	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATCTCAACTTCCAAGGACATC	0.433000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			28	12					0	0	0.001061	0	0
FER1L5	90342	broad.mit.edu	37	2	97367693	97367693	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:97367693G>A	ENST00000457909.1	+	0	4575							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CGGCTCTAGGGAAAGGTGCAA	0.577000													31	27					0	0	0.002096	0	0
KCNQ4	9132	broad.mit.edu	37	1	41285908	41285908	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:41285908G>A	ENST00000347132.5	+	7	1099	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Silent_p.R339R	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	339					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGAAGCGGAGGATGCCGGCAG	0.612000													7	5					0	0	0.003080	0	0
GPR137	56834	broad.mit.edu	37	11	64056676	64056676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64056676C>T	ENST00000411458.1	+	9	1295	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P365S	NM_001170726.1	NP_001164197.1	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	365						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGATCCCCCTCCCTCCCCCAC	0.647000													19	18					0	0	0.001216	0	0
DSCAM	1826	broad.mit.edu	37	21	41559082	41559082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41559082C>T	ENST00000400454.1	-	14	3232	c.2755G>A	c.(2755-2757)Gat>Aat	p.D919N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	919	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTCAATATCGTAGCCTGTG	0.413000													10	26					0	0	0.000978	0	0
SLC12A5	57468	broad.mit.edu	37	20	44685936	44685936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44685936G>A	ENST00000454036.1	+	25	3398	c.3322G>A	c.(3322-3324)Gaa>Aaa	p.E1108K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E1085K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1108					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAATGGTGATGAAAACTGTAT	0.562000													29	110					0	0	0.003271	0	0
DCST2	127579	broad.mit.edu	37	1	155005603	155005603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155005603C>T	ENST00000368424.3	-	2	464	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	DCST2_ENST00000295536.5_Missense_Mutation_p.E136K	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	136						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTAGCACTTCGGCGGTCTGG	0.622000													4	8					0	0	0.000248	0	0
PHF3	23469	broad.mit.edu	37	6	64395690	64395690	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:64395690C>T	ENST00000262043.3	+	4	2407	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	PHF3_ENST00000509330.1_Silent_p.F689F|PHF3_ENST00000393387.1_Silent_p.F689F			Q92576	PHF3_HUMAN	PHD finger protein 3	689					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACCATTGTTCATTCCAGATA	0.408000													24	22					0	0	0.002780	0	0
CYB5R4	51167	broad.mit.edu	37	6	84669579	84669579	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:84669579C>T	ENST00000369681.4	+	16	1688	c.1548C>T	c.(1546-1548)atC>atT	p.I516I		NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	516					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AAAATGAGATCCATAGTTTTA	0.303000													13	13					0	0	0.002450	0	0
BANK1	55024	broad.mit.edu	37	4	102951356	102951356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:102951356C>T	ENST00000504592.1	+	14	2207	c.1789C>T	c.(1789-1791)Cct>Tct	p.P597S	BANK1_ENST00000508653.1_Missense_Mutation_p.P479S|BANK1_ENST00000322953.4_Missense_Mutation_p.P612S|BANK1_ENST00000444316.2_Missense_Mutation_p.P582S|BANK1_ENST00000428908.1_Missense_Mutation_p.P479S|RP11-498M5.2_ENST00000505091.1_RNA			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	612					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AAATAGACCTCCTGCCCCCAC	0.378000													42	38					0	0	0.002852	0	0
AHDC1	27245	broad.mit.edu	37	1	27874737	27874737	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:27874737G>A	ENST00000374011.2	-	6	4858	c.3890C>T	c.(3889-3891)cCc>cTc	p.P1297L	AHDC1_ENST00000247087.5_Missense_Mutation_p.P1297L|AHDC1_ENST00000482400.2_Intron	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1297							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGTGGCTTGGGGATGAACTT	0.667000													26	53					0	0	0.001061	0	0
CECR1	51816	broad.mit.edu	37	22	17684654	17684654	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:17684654C>T	ENST00000399839.1	-	4	822	c.552G>A	c.(550-552)agG>agA	p.R184R	CECR1_ENST00000449907.2_Silent_p.R142R|CECR1_ENST00000262607.3_Silent_p.R184R|CECR1_ENST00000399837.2_Silent_p.R184R			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	184	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GAGTGAAATTCCTCAGCAAGC	0.527000													7	11					0	0	0.003080	0	0
INPP5D	3635	broad.mit.edu	37	2	234079718	234079718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:234079718G>A	ENST00000359570.5	+	19	1873	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	INPP5D_ENST00000538935.1_3'UTR|INPP5D_ENST00000455936.2_Missense_Mutation_p.E389K|INPP5D_ENST00000450745.1_Missense_Mutation_p.E389K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	637					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGAGGAGGAAGAAATCACGTT	0.463000													6	11					0	0	0.001984	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1149454	1149454	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:1149454G>A	ENST00000379236.3	-	1	58	c.54C>T	c.(52-54)ctC>ctT	p.L18L		NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	18					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCAGGCCCAGGAGGAGCAGAG	0.701000													9	5					0	0	0.000978	0	0
GPR110	266977	broad.mit.edu	37	6	46977796	46977796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46977796G>A	ENST00000371253.2	-	11	1590	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S	GPR110_ENST00000283297.5_Missense_Mutation_p.P262S|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	459					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCTCTGATGGGAATAGATGTA	0.438000													23	44					0	0	0.002299	0	0
SNX9	51429	broad.mit.edu	37	6	158288663	158288663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:158288663C>T	ENST00000392185.3	+	2	268	c.97C>T	c.(97-99)Ccg>Tcg	p.P33S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	33	SH3.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AATCACAAATCCGGTAAGAGA	0.408000													13	17					0	0	0.001855	0	0
CD101	9398	broad.mit.edu	37	1	117576494	117576494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:117576494C>T	ENST00000256652.4	+	9	2895	c.2837C>T	c.(2836-2838)cCt>cTt	p.P946L	RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000467588.1_3'UTR|CD101_ENST00000369470.1_Missense_Mutation_p.P946L	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	946					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCACGCTTCCTTCCAGGATC	0.463000													27	35					0	0	0.002096	0	0
KRT1	3848	broad.mit.edu	37	12	53073659	53073659	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53073659G>A	ENST00000252244.3	-	1	532	c.474C>T	c.(472-474)aaC>aaT	p.N158N		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	158	Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GAAGGCTCTGGTTGATAGTGA	0.512000													19	44					0	0	0.002299	0	0
FASLG	356	broad.mit.edu	37	1	172633473	172633473	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:172633473G>A	ENST00000367721.2	+	3	578		c.e3-1		FASLG_ENST00000340030.3_Splice_Site	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)						activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CTATGATACAGGCCACCCCAG	0.363000													35	24					0	0	0.005524	0	0
BMP10	27302	broad.mit.edu	37	2	69093233	69093233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:69093233C>T	ENST00000295379.1	-	2	963	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	269					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TCATTCAGTTCCTCCTTCCTC	0.478000													21	30					0	0	0.001523	0	0
OR5M1	390168	broad.mit.edu	37	11	56380594	56380594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56380594G>A	ENST00000526538.1	-	1	384	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TAATGCAAAGGGCTGCAAATG	0.463000													16	37					0	0	0.000958	0	0
SUGP2	10147	broad.mit.edu	37	19	19135628	19135628	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:19135628G>A	ENST00000601879.1	-	3	1826	c.1529C>T	c.(1528-1530)tCa>tTa	p.S510L	SUGP2_ENST00000456085.2_Missense_Mutation_p.S279L|SUGP2_ENST00000337018.6_Missense_Mutation_p.S510L|SUGP2_ENST00000452918.2_Missense_Mutation_p.S510L|SUGP2_ENST00000600377.1_Missense_Mutation_p.S524L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	510					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCAGCAGGTGAGGGAGCTAT	0.527000													33	76					0	0	0.003755	0	0
HNF4G	3174	broad.mit.edu	37	8	76471221	76471221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:76471221C>T	ENST00000396423.2	+	8	1166	c.1042C>T	c.(1042-1044)Ctt>Ttt	p.L348F	HNF4G_ENST00000354370.1_Missense_Mutation_p.L311F	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	311					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTTGTTAAACTTTTTGGGAT	0.398000													59	62					0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228482023	228482023	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:228482023G>A	ENST00000570156.2	+	47	12663	c.12589G>A	c.(12589-12591)Gag>Aag	p.E4197K	OBSCN_ENST00000366709.4_Missense_Mutation_p.E887K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3768K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E3768K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E887K|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2615K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3240	Ig-like 43.				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)				GTCCAGGTGTGAGCTGCAGAT	0.632000													31	65					0	0	0.003271	0	0
SLC28A1	9154	broad.mit.edu	37	15	85448872	85448872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:85448872G>A	ENST00000394573.1	+	8	908	c.706G>A	c.(706-708)Gag>Aag	p.E236K	SLC28A1_ENST00000538177.1_Missense_Mutation_p.E236K|SLC28A1_ENST00000537216.1_Missense_Mutation_p.E236K|SLC28A1_ENST00000286749.3_Missense_Mutation_p.E236K|SLC28A1_ENST00000537703.1_Missense_Mutation_p.E158K|SLC28A1_ENST00000537624.1_Missense_Mutation_p.E236K	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	236					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGGCTGGGCGAGCAGATCCG	0.567000													9	28					0	0	0.000443	0	0
CACNG5	27091	broad.mit.edu	37	17	64875095	64875095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:64875095G>A	ENST00000533854.1	+	3	439	c.202G>A	c.(202-204)Gag>Aag	p.E68K	CACNG5_ENST00000307139.3_Missense_Mutation_p.E68K|CACNG5_ENST00000169565.3_Missense_Mutation_p.E68K			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	68					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CACAGGTGAGGAGCGGGGGCG	0.468000													47	11					0	0	0.003610	0	0
EFCAB13	124989	broad.mit.edu	37	17	45456553	45456553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45456553G>A	ENST00000331493.2	+	14	1927	c.1516G>A	c.(1516-1518)Gga>Aga	p.G506R	EFCAB13_ENST00000517484.1_Missense_Mutation_p.G410R	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		AACAGAGAATGGAATGGTGGA	0.303000													33	13					0	0	0.003271	0	0
TXLNB	167838	broad.mit.edu	37	6	139609879	139609879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:139609879G>A	ENST00000358430.3	-	2	390	c.158C>T	c.(157-159)cCc>cTc	p.P53L		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	53						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)		AGAGATATCGGGGTGCACACT	0.532000													46	68					0	0	0.003610	0	0
MYADM	91663	broad.mit.edu	37	19	54376896	54376896	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54376896T>A	ENST00000391769.2	+	3	393	c.113T>A	c.(112-114)cTc>cAc	p.L38H	MYADM_ENST00000391770.4_Missense_Mutation_p.L38H|MYADM_ENST00000336967.3_Missense_Mutation_p.L38H|MYADM_ENST00000391771.1_Missense_Mutation_p.L38H|MYADM_ENST00000391768.2_Missense_Mutation_p.L38H	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	38	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CCCCTGGGTCTCCTTCGCCTG	0.662000											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	14					0	0	0.001368	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94650465	94650465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:94650465C>T	ENST00000260526.6	-	18	2254	c.2072G>A	c.(2071-2073)tGt>tAt	p.C691Y	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	691	Rho-GAP.				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CTCTGAGGCACATATTTTGAG	0.328000													30	40					0	0	0.002836	0	0
ACSM2B	348158	broad.mit.edu	37	16	20565207	20565207	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:20565207C>T	ENST00000329697.6	-	5	800	c.632G>A	c.(631-633)gGa>gAa	p.G211E	ACSM2B_ENST00000565232.1_Missense_Mutation_p.G211E|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G132E|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G211E	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	211					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTCCTGGCTTCCAGTCTCCAC	0.507000													31	40					0	0	0.004289	0	0
DNAH5	1767	broad.mit.edu	37	5	13717498	13717498	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13717498C>T	ENST00000265104.4	-	73	12735	c.12631G>A	c.(12631-12633)Gaa>Aaa	p.E4211K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4211	AAA 6 (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)					TGGTTAAATTCGTAGGGGATA	0.542000									Kartagener syndrome				12	16					0	0	0.001368	0	0
ATG9A	79065	broad.mit.edu	37	2	220088932	220088932	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:220088932G>C	ENST00000409618.1	-	8	1600	c.1161C>G	c.(1159-1161)atC>atG	p.I387M	ATG9A_ENST00000409422.1_Missense_Mutation_p.I326M|ATG9A_ENST00000396761.2_Missense_Mutation_p.I387M|ATG9A_ENST00000361242.4_Missense_Mutation_p.I387M			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	387					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACAGCCAGGATGGAGCCAG	0.537000													59	87					0	0	0.003610	0	0
SCNN1B	6338	broad.mit.edu	37	16	23360097	23360097	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:23360097C>T	ENST00000343070.2	+	2	353	c.177C>T	c.(175-177)ttC>ttT	p.F59F	SCNN1B_ENST00000568923.1_Silent_p.F59F|SCNN1B_ENST00000307331.5_Silent_p.F104F|SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000568085.1_Silent_p.F59F	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	59					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCTGCTCTTCGCCGCCCTCG	0.597000													13	10					0	0	0.002450	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105386856	105386856	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:105386856C>T	ENST00000369774.4	-	9	984	c.708G>A	c.(706-708)aaG>aaA	p.K236K	SH3PXD2A_ENST00000427662.2_Silent_p.K98K|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.K71K|SH3PXD2A_ENST00000540321.1_Silent_p.K103K|SH3PXD2A_ENST00000355946.2_Silent_p.K236K			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	236					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTTCTCCAGTCTTAGAGGTGT	0.592000													22	19					0	0	0.002780	0	0
TFDP1	7027	broad.mit.edu	37	13	114287579	114287579	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:114287579C>T	ENST00000375370.5	+	6	665	c.453C>T	c.(451-453)aaC>aaT	p.N151N	TFDP1_ENST00000544902.1_Silent_p.N56N|TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Silent_p.N56N	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	151					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CTGCCGACAACCACATCTTAC	0.562000										TSP Lung(29;0.18)			17	3					0	0	0.002299	0	0
FCRL1	115350	broad.mit.edu	37	1	157772449	157772449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157772449G>A	ENST00000358292.3	-	4	376	c.325C>T	c.(325-327)Cct>Tct	p.P109S	FCRL1_ENST00000491942.1_Missense_Mutation_p.P109S|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.P109S	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	109	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCAGCGACAGGGACCCCTGTG	0.537000													5	14					0	0	0.000602	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39441500	39441500	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:39441500C>T	ENST00000308521.5	+	4	876	c.519C>T	c.(517-519)ttC>ttT	p.F173F	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	178					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGTACAAATTCGATGACAATT	0.507000													55	78					0	0	0.003610	0	0
HLCS	3141	broad.mit.edu	37	21	38302591	38302591	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:38302591A>G	ENST00000399120.1	-	6	2369	c.1139T>C	c.(1138-1140)gTt>gCt	p.V380A	HLCS_ENST00000336648.3_Missense_Mutation_p.V380A|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	380					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TAAGGCAGGAACTTGTTTCAT	0.502000													15	30					0	0	0.002450	0	0
TMEM8B	51754	broad.mit.edu	37	9	35852909	35852909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:35852909C>T	ENST00000377988.2	+	11	2193	c.905C>T	c.(904-906)tCc>tTc	p.S302F	TMEM8B_ENST00000377991.4_Missense_Mutation_p.S302F	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	302					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TTCCTGGGCTCCTTAATGTCC	0.532000													36	8					0	0	0.004878	0	0
OR4K1	79544	broad.mit.edu	37	14	20403841	20403841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20403841G>A	ENST00000285600.4	+	1	75	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCACACAAATGAATCGATGGT	0.343000													79	128					0	0	0.003610	0	0
CCDC110	256309	broad.mit.edu	37	4	186380586	186380586	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:186380586G>A	ENST00000307588.3	-	6	1230	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L	CCDC110_ENST00000510617.1_Silent_p.L385L|CCDC110_ENST00000393540.3_Silent_p.L348L	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	385						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTGTTTGGTCGAGGAAGGACA	0.303000													66	115					0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61967904	61967904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61967904C>T	ENST00000280772.1	-	10	1275	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	ANK3_ENST00000373827.2_Missense_Mutation_p.D356N|ANK3_ENST00000503366.1_Missense_Mutation_p.D345N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	362					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGGTGACATCATCCACGGGT	0.483000													11	26					0	0	0.000673	0	0
SYCE1	93426	broad.mit.edu	37	10	135368878	135368878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:135368878C>T	ENST00000368517.3	-	12	925	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.E299K|SYCE1_ENST00000432597.2_Missense_Mutation_p.E263K	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	299	Gln-rich.				cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCAGCCTCTTCCTCTTGTGTG	0.587000													42	53					0	0	0.003610	0	0
OR52N4	390072	broad.mit.edu	37	11	5776234	5776234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5776234G>A	ENST00000317254.3	+	1	312	c.264G>A	c.(262-264)tgG>tgA	p.W88*	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GCATCTTCTGGTTTCATCTCA	0.473000													37	43					0	0	0.004878	0	0
RAET1K	646024	broad.mit.edu	37	6	150322493	150322493	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:150322493G>A	ENST00000533735.1	-	0	383					NR_024045.1																						TTACCGATGGGTATTACATTC	0.408000													6	8					0	0	0.001984	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535308	90535308	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:90535308C>T	ENST00000602681.1	+	0	1212																											CCATTGTCTCCCCGTTAGCTT	0.597000													106	15					0	0	0.003610	0	0
PCDH18	54510	broad.mit.edu	37	4	138451725	138451725	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:138451725C>T	ENST00000344876.4	-	1	1904	c.1518G>A	c.(1516-1518)gaG>gaA	p.E506E	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.E286E|PCDH18_ENST00000412923.2_Silent_p.E506E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	506	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GAATAAAACTCTCCAAGATGG	0.403000													48	75					0	0	0.003610	0	0
CNR1	1268	broad.mit.edu	37	6	88854040	88854040	+	Silent	SNP	G	G	A	rs77173482		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:88854040G>A	ENST00000537554.1	-	2	4516	c.954C>T	c.(952-954)atC>atT	p.I318I	CNR1_ENST00000369499.2_Silent_p.I318I|CNR1_ENST00000428600.2_Silent_p.I318I|CNR1_ENST00000468898.1_Silent_p.I285I|CNR1_ENST00000535130.1_Silent_p.I318I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Silent_p.I257I|CNR1_ENST00000549890.1_Silent_p.I318I|CNR1_ENST00000369501.2_Silent_p.I318I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	318					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACGTGTGGATGATGATGCTCT	0.547000													28	40					0	0	0.004656	0	0
PTH	5741	broad.mit.edu	37	11	13514345	13514345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:13514345G>A	ENST00000282091.1	-	2	172	c.58C>T	c.(58-60)Ctt>Ttt	p.L20F	PTH_ENST00000529816.1_Missense_Mutation_p.L20F	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	20					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		GATTTTGTAAGAAAACAAATT	0.338000													15	20					0	0	0.004990	0	0
SALL2	6297	broad.mit.edu	37	14	21991618	21991618	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:21991618G>A	ENST00000327430.3	-	2	2538	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.F611F|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	748							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GCTGCTGGGGGAAACTCCCTG	0.577000													8	17					0	0	0.004482	0	0
ANO3	63982	broad.mit.edu	37	11	26655756	26655756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:26655756C>T	ENST00000256737.3	+	19	2731	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	ANO3_ENST00000537978.1_Missense_Mutation_p.P611S|ANO3_ENST00000525139.1_Missense_Mutation_p.P611S|ANO3_ENST00000531568.1_Missense_Mutation_p.P481S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	627						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTTAGAATATCCTCGAACAGA	0.418000													9	17					0	0	0.001368	0	0
ARAP3	64411	broad.mit.edu	37	5	141059732	141059732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:141059732G>A	ENST00000239440.4	-	2	387	c.322C>T	c.(322-324)Cct>Tct	p.P108S	ARAP3_ENST00000508305.1_Missense_Mutation_p.P30S	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	108	Pro-rich.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTGGTGGCAGGGCCACTGAGT	0.672000													26	9					0	0	0.001061	0	0
LRFN2	57497	broad.mit.edu	37	6	40360132	40360132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:40360132C>T	ENST00000338305.6	-	3	2462	c.1920G>A	c.(1918-1920)tgG>tgA	p.W640*		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	640						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGGGATCCTCCAGGGGGCCC	0.706000													5	3					0	0	0.000602	0	0
LY86	9450	broad.mit.edu	37	6	6589070	6589070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:6589070G>A	ENST00000379953.2	+	2	455	c.103G>A	c.(103-105)Gac>Aac	p.D35N	LY86-AS1_ENST00000429345.1_RNA|LY86-AS1_ENST00000435641.1_RNA|LY86_ENST00000230568.4_Missense_Mutation_p.D35N			O95711	LY86_HUMAN	lymphocyte antigen 86	35					apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					GGTCTGTAGCGACAGCGGCTT	0.572000													20	34					0	0	0.003330	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042859	75042859	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75042859C>T	ENST00000343932.4	+	2	843	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	260					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	ACCAGAGGTTCCTGTGGTTCC	0.607000													22	30					0	0	0.002780	0	0
TMPO	7112	broad.mit.edu	37	12	98926672	98926672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:98926672C>T	ENST00000266732.4	+	4	875	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGAACTACTCCCTCTGGTGG	0.433000													35	51					0	0	0.003271	0	0
CCDC141	285025	broad.mit.edu	37	2	179702184	179702184	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179702184C>T	ENST00000420890.2	-	23	3879	c.3762G>A	c.(3760-3762)ggG>ggA	p.G1254G	CCDC141_ENST00000295723.5_Silent_p.G679G|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	679							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGCTGCTGGTCCCAGCCTGCA	0.537000													19	17					0	0	0.001216	0	0
OSMR	9180	broad.mit.edu	37	5	38869153	38869153	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38869153C>A	ENST00000274276.3	+	2	409	c.7C>A	c.(7-9)Cta>Ata	p.L3I	OSMR_ENST00000502536.1_Missense_Mutation_p.L3I	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	3					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ACTGATGGCTCTATTTGCAGT	0.338000													46	56					1.6237e-14	3.04531e-14	0.003214	1	0
TLR2	7097	broad.mit.edu	37	4	154626225	154626225	+	Silent	SNP	C	C	T	rs150753690		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:154626225C>T	ENST00000260010.6	+	1	3574	c.2166C>T	c.(2164-2166)ttC>ttT	p.F722F		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	722	TIR.				cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TCTCCCATTTCCGTCTTTTTG	0.433000													43	76					0	0	0.002222	0	0
NES	10763	broad.mit.edu	37	1	156642368	156642368	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156642368G>T	ENST00000368223.3	-	4	1744	c.1612C>A	c.(1612-1614)Cag>Aag	p.Q538K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	538	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)					AAAGGAACCTGGGAGTCCTGG	0.468000													7	102					0.00307968	0.0057151	0.003080	1	0
CREB3L3	84699	broad.mit.edu	37	19	4171147	4171147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4171147C>T	ENST00000078445.2	+	8	1097	c.950C>T	c.(949-951)tCa>tTa	p.S317L	CREB3L3_ENST00000602147.1_Silent_p.V281V|CREB3L3_ENST00000595923.1_Missense_Mutation_p.S316L|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602257.1_Missense_Mutation_p.S315L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	317					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCAGCAAGTCAGCCCAGACA	0.607000													20	27					0	0	0.001882	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84373178	84373178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:84373178C>T	ENST00000286744.5	+	3	331	c.107C>T	c.(106-108)cCc>cTc	p.P36L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P36L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	36						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TATTTCCTTCCCGAGTTTGCA	0.463000													96	110					0	0	0.003610	0	0
VWF	7450	broad.mit.edu	37	12	6125315	6125315	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:6125315G>A	ENST00000261405.5	-	31	5649	c.5395C>T	c.(5395-5397)Ctg>Ttg	p.L1799L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1799	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCGTGACCAGGATGACCACC	0.557000													18	21					0	0	0.001882	0	0
PADI4	23569	broad.mit.edu	37	1	17681068	17681068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:17681068G>A	ENST00000375448.4	+	11	1222	c.1196G>A	c.(1195-1197)gGg>gAg	p.G399E	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	399					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCCCAAACAGGGGGTATCAGT	0.572000													17	41					0	0	0.001216	0	0
HELZ2	85441	broad.mit.edu	37	20	62199768	62199768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62199768G>A	ENST00000467148.1	-	5	1742	c.1673C>T	c.(1672-1674)tCc>tTc	p.S558F	RP4-697K14.12_ENST00000454223.1_RNA	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GACCTCCAGGGAGGCCATGGC	0.667000													16	10					0	0	0.004990	0	0
CD22	933	broad.mit.edu	37	19	35832745	35832745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:35832745C>T	ENST00000085219.5	+	9	1978	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	CD22_ENST00000341773.6_Missense_Mutation_p.P461S|CD22_ENST00000594250.1_Missense_Mutation_p.P461S|CD22_ENST00000544992.2_Missense_Mutation_p.P638S|CD22_ENST00000536635.2_Missense_Mutation_p.P550S|CD22_ENST00000419549.2_Missense_Mutation_p.P466S|CD22_ENST00000270311.6_Missense_Mutation_p.P518S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	638	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCAAAGCCTCCCCTACCACAG	0.607000													13	23					0	0	0.001855	0	0
GRIK3	2899	broad.mit.edu	37	1	37335351	37335351	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:37335351G>A	ENST00000373091.3	-	5	800	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	GRIK3_ENST00000373093.4_Silent_p.L262L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	262					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TACATTACCAGAGTGGTGAAG	0.547000													20	32					0	0	0.002299	0	0
ARHGDIB	397	broad.mit.edu	37	12	15103629	15103629	+	Silent	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:15103629T>C	ENST00000228945.4	-	2	162	c.18A>G	c.(16-18)ccA>ccG	p.P6P	ARHGDIB_ENST00000541546.1_Silent_p.P6P|ARHGDIB_ENST00000541644.1_Silent_p.P6P	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	6					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						CATGTGGCTCTGGGGCTTTTT	0.458000													5	64					0	0	0.001168	0	0
HCN1	348980	broad.mit.edu	37	5	45262428	45262428	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:45262428C>T	ENST00000303230.4	-	8	2325	c.2268G>A	c.(2266-2268)caG>caA	p.Q756Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	756	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			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						TGCCAGGTGTCTGTGGCTGCG	0.647000													16	23					0	0	0.004990	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575123	74575123	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:74575123G>A	ENST00000354431.4	-	5	1013	c.822C>T	c.(820-822)ttC>ttT	p.F274F	LRRIQ3_ENST00000370909.2_Silent_p.F166F|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000395089.1_Silent_p.F274F	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	274										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTCAGGTTTGAAAAAGAGAT	0.254000													13	26					0	0	0.001855	0	0
LRP1B	53353	broad.mit.edu	37	2	141055395	141055395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141055395C>A	ENST00000389484.3	-	84	13920	c.12949G>T	c.(12949-12951)Gga>Tga	p.G4317*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4317	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4317*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCTGTCTCCGGTGTATTCC	0.453000										TSP Lung(27;0.18)			7	189					0.00448238	0.00831004	0.004482	1	0
TXNDC2	84203	broad.mit.edu	37	18	9887524	9887524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:9887524G>T	ENST00000306084.6	+	2	1247	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	TXNDC2_ENST00000357775.4_Nonsense_Mutation_p.E283*|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	350	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCCCAGAAGAAACCATCCA	0.567000													32	13					2.80507e-11	5.25377e-11	0.002445	1	0
PEG3	5178	broad.mit.edu	37	19	57325729	57325729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:57325729C>T	ENST00000326441.9	-	10	4444	c.4081G>A	c.(4081-4083)Gat>Aat	p.D1361N	PEG3_ENST00000593695.1_Missense_Mutation_p.D1235N|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1361N|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.D1237N|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1361	Glu-rich.				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)		gctgctTCATCTTCTTCTTCT	0.453000													16	29					0	0	0.004007	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511310	75511310	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:75511310C>T	ENST00000006777.6	+	2	477	c.342C>T	c.(340-342)ttC>ttT	p.F114F	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_5'UTR	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	114						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CTATCATCTTCCTGTCATTCG	0.562000													81	51					0	0	0.003610	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1995404	1995404	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:1995404G>A	ENST00000382722.5	-	8	1340	c.978C>T	c.(976-978)ttC>ttT	p.F326F	CACNA2D4_ENST00000588077.1_Silent_p.F262F|CACNA2D4_ENST00000586184.1_Silent_p.F326F|CACNA2D4_ENST00000585708.1_Silent_p.F262F|CACNA2D4_ENST00000587995.1_Silent_p.F326F|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	326	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.F326F(1)		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)		TGATATTAATGAAGTCATTCT	0.488000													10	22					0	0	0.000673	0	0
MAGI1	9223	broad.mit.edu	37	3	65376826	65376826	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:65376826C>T	ENST00000330909.8	-	14	2406	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	MAGI1_ENST00000402939.2_Missense_Mutation_p.E803K|MAGI1_ENST00000497477.2_Missense_Mutation_p.E803K|MAGI1_ENST00000483466.1_Missense_Mutation_p.E803K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	803					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.E803K(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CGTCGGTTTTCATACATGCTC	0.502000													21	47					0	0	0.002299	0	0
CRMP1	1400	broad.mit.edu	37	4	5830308	5830308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:5830308C>T	ENST00000324989.7	-	12	1799	c.1711G>A	c.(1711-1713)Gga>Aga	p.G571R	EVC_ENST00000382674.2_3'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.G457R|CRMP1_ENST00000512574.1_Missense_Mutation_p.G455R|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	457					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TTGATGTTTCCGTCTTCAAAG	0.562000													9	15					0	0	0.000673	0	0
MSTN	2660	broad.mit.edu	37	2	190922330	190922330	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:190922330G>A	ENST00000260950.4	-	3	914	c.782C>T	c.(781-783)cCa>cTa	p.P261L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	261					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			GGATCTTTTTGGTGTGTCTGT	0.398000													20	26					0	0	0.001216	0	0
BMS1	9790	broad.mit.edu	37	10	43279930	43279930	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:43279930C>T	ENST00000374518.4	+	2	151	c.88C>T	c.(88-90)Cag>Tag	p.Q30*		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	30					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCAGGATCTCCAGCTAGGAGA	0.478000													37	31					0	0	0.004878	0	0
OR5K2	402135	broad.mit.edu	37	3	98216596	98216596	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:98216596G>A	ENST00000427338.1	+	1	149	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGAGCTGAAGACTCTGCTGT	0.418000													42	56					0	0	0.003610	0	0
KIDINS220	57498	broad.mit.edu	37	2	8933996	8933996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:8933996G>A	ENST00000256707.3	-	12	1401	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	KIDINS220_ENST00000427284.1_Missense_Mutation_p.P407L|KIDINS220_ENST00000418530.1_Missense_Mutation_p.P365L|KIDINS220_ENST00000319688.5_Missense_Mutation_p.P408L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.P407L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	407					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATATTATAAGGAGTCTCGCC	0.388000													26	33					0	0	0.003954	0	0
SKIL	6498	broad.mit.edu	37	3	170108171	170108171	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:170108171C>T	ENST00000458537.3	+	4	2299	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	SKIL_ENST00000426052.2_Silent_p.I510I|SKIL_ENST00000413427.2_Silent_p.I484I|SKIL_ENST00000259119.4_Silent_p.I530I	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	530					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGGGAAAAATCATGGAAGAAG	0.348000													22	50					0	0	0.001882	0	0
CD163L1	283316	broad.mit.edu	37	12	7586211	7586211	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7586211C>T	ENST00000313599.3	-	3	261	c.204G>A	c.(202-204)caG>caA	p.Q68Q	CD163L1_ENST00000416109.2_Silent_p.Q68Q|CD163L1_ENST00000396630.1_Silent_p.Q68Q			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	68	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGTCCCCCACTGTCCCTGGA	0.498000													45	45					0	0	0.003610	0	0
MCL1	4170	broad.mit.edu	37	1	150551546	150551546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:150551546G>A	ENST00000369026.2	-	1	520	c.461C>T	c.(460-462)aCc>aTc	p.T154I	MCL1_ENST00000307940.3_Missense_Mutation_p.T154I	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	154	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTCCGTACTGGTGTTATTACC	0.642000													31	26					0	0	0.001786	0	0
CCDC141	285025	broad.mit.edu	37	2	179714832	179714832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179714832G>A	ENST00000420890.2	-	21	3418	c.3301C>T	c.(3301-3303)Ctt>Ttt	p.L1101F	CCDC141_ENST00000295723.5_Missense_Mutation_p.L526F	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	526							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACAGATTCAAGAACCTCTTTG	0.338000													39	46					0	0	0.002852	0	0
RORB	6096	broad.mit.edu	37	9	77257394	77257394	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:77257394C>T	ENST00000376896.2	+	4	912	c.300C>T	c.(298-300)caC>caT	p.H100H	RORB_ENST00000396204.2_Silent_p.H111H	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	111	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						Tgcagaagcaccagcagcggc	0.567000													54	9					0	0	0.003610	0	0
FBXW8	26259	broad.mit.edu	37	12	117462048	117462048	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:117462048C>T	ENST00000455858.2	+	9	1339	c.1266C>T	c.(1264-1266)atC>atT	p.I422I	FBXW8_ENST00000309909.5_Silent_p.I488I	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	488							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		ACTGGAAGATCGTCAGTGGAG	0.577000													14	22					0	0	0.002450	0	0
FRMD1	79981	broad.mit.edu	37	6	168461500	168461500	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:168461500T>A	ENST00000283309.6	-	9	1347	c.1283A>T	c.(1282-1284)gAg>gTg	p.E428V	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Missense_Mutation_p.E199V|FRMD1_ENST00000440994.2_Missense_Mutation_p.E360V	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	428						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGAGGACGGCTCCTTCTCATG	0.637000													15	12					0	0	0.003163	0	0
TXNDC8	255220	broad.mit.edu	37	9	113096597	113096597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:113096597C>T	ENST00000374507.4	-	2	78	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	TXNDC8_ENST00000423740.2_Missense_Mutation_p.E10K|TXNDC8_ENST00000374510.4_Missense_Mutation_p.E10K|TXNDC8_ENST00000374511.3_Missense_Mutation_p.E10K			Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	10	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GTTTTAAATTCATTCTGAAAA	0.358000													29	6					0	0	0.001271	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803554	160803554	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:160803554T>C	ENST00000392781.2	-	8	1736	c.989A>G	c.(988-990)cAt>cGt	p.H330R	B3GALNT1_ENST00000392780.1_Missense_Mutation_p.H330R|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.H330R|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.H330R|B3GALNT1_ENST00000417187.1_Missense_Mutation_p.H90R|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.H330R|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.H330R	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	330					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AAGTTAATAATGGCATGTGGT	0.418000													17	41					0	0	0.001523	0	0
WBP11P1	441818	broad.mit.edu	37	18	30091976	30091976	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:30091976G>A	ENST00000567636.1	+	0	351					NR_003558.1																						CAGATGATCCGAGACATGGAG	0.408000													9	14					0	0	0.000443	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102040047	102040047	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:102040047C>T	ENST00000496391.1	+	7	1568	c.258C>T	c.(256-258)cgC>cgT	p.R86R	PRKRIP1_ENST00000354783.4_Silent_p.R48R|PRKRIP1_ENST00000462601.1_Silent_p.R29R|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000397912.3_Silent_p.R86R			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	86	Required for RNA-binding (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						GACATCTGCGCCGGAGAGAAT	0.542000													99	14					0	0	0.003610	0	0
SPACA3	124912	broad.mit.edu	37	17	31323939	31323939	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:31323939G>A	ENST00000580599.1	+	4	624	c.215G>A	c.(214-216)gGg>gAg	p.G72E	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000394638.1_Missense_Mutation_p.G38E|SPACA3_ENST00000269053.3_Missense_Mutation_p.G141E			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	141					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)			ACCAACAACGGGATCTTCCAG	0.592000													40	13					0	0	0.002222	0	0
ELF1	1997	broad.mit.edu	37	13	41525489	41525489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:41525489G>A	ENST00000239882.3	-	4	651	c.337C>T	c.(337-339)Cct>Tct	p.P113S	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P113S	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	113					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TCCAGCATAGGGCCAGGGGAA	0.368000													26	96					0	0	0.001061	0	0
ADK	132	broad.mit.edu	37	10	76468180	76468180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:76468180C>T	ENST00000372734.3	+	11	1202	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	ADK_ENST00000286621.2_Missense_Mutation_p.P356S|ADK_ENST00000539909.1_Missense_Mutation_p.P299S|ADK_ENST00000541550.1_Missense_Mutation_p.P321S	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	356					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	CTGCACCTTTCCTGAGAAGCC	0.473000													18	31					0	0	0.004990	0	0
DCHS2	54798	broad.mit.edu	37	4	155163905	155163905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:155163905C>T	ENST00000357232.3	-	22	5595	c.5596G>A	c.(5596-5598)Gat>Aat	p.D1866N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1866	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCCCTTTATCTGTGGCTTGG	0.388000													14	35					0	0	0.003163	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221966	118221966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:118221966G>A	ENST00000402510.2	-	11	3226	c.3227C>T	c.(3226-3228)cCt>cTt	p.P1076L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1076										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGGTGCCACAGGACTGCTCCA	0.522000													49	5					0	0	0.003610	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124999873	124999873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:124999873G>A	ENST00000431078.1	+	3	648	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	95	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCACGCAGGGAAGATACGGA	0.527000													8	2					0	0	0.003080	0	0
SYT3	84258	broad.mit.edu	37	19	51135761	51135761	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51135761C>T	ENST00000338916.4	-	2	1089	c.456G>A	c.(454-456)ggG>ggA	p.G152G	SYT3_ENST00000600079.1_Silent_p.G152G|SYT3_ENST00000544769.1_Silent_p.G152G|SYT3_ENST00000593901.1_Silent_p.G152G	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	152						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGTCAGAACCCCCCAGGCTGC	0.657000													6	6					0	0	0.001168	0	0
WDR81	124997	broad.mit.edu	37	17	1631537	1631537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:1631537C>T	ENST00000409644.1	+	1	3284	c.3284C>T	c.(3283-3285)cCc>cTc	p.P1095L	WDR81_ENST00000309182.5_Missense_Mutation_p.P44L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACTGAGTCTCCCCAGCCCCAG	0.657000													40	6					0	0	0.001951	0	0
TTLL3	26140	broad.mit.edu	37	3	9877137	9877137	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9877137G>A	ENST00000547186.1	+	13	2499	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A	TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000426895.4_Silent_p.A904A	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	761					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	p.A761A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGGATGGGGCGAGGCCGTGTA	0.562000													49	73					0	0	0.003610	0	0
ARID5A	10865	broad.mit.edu	37	2	97217569	97217569	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:97217569T>C	ENST00000454558.2	+	7	2277	c.1100T>C	c.(1099-1101)tTc>tCc	p.F367S	ARID5A_ENST00000357485.3_Missense_Mutation_p.F435S			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	435					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCGCCCACCTTCCCCAGTAGC	0.662000													12	16					0	0	0.004007	0	0
CFH	3075	broad.mit.edu	37	1	196694406	196694406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:196694406C>T	ENST00000367429.4	+	12	2092	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	618	Sushi 10.				complement activation, alternative pathway	extracellular space		p.P618T(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGATTGTCTCCTGACCTCCC	0.358000													27	45					0	0	0.001786	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137831	40137831	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:40137831C>T	ENST00000278198.2	-	2	1975	c.12G>A	c.(10-12)aaG>aaA	p.K4K	LRRC4C_ENST00000527150.1_Silent_p.K4K|LRRC4C_ENST00000530763.1_Silent_p.K4K|LRRC4C_ENST00000528697.1_Silent_p.K4K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	4					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTAAGGTCATCTTGTTCAACA	0.393000													21	26					0	0	0.002299	0	0
PTH1R	5745	broad.mit.edu	37	3	46943285	46943285	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46943285C>T	ENST00000313049.5	+	11	1349	c.1146C>T	c.(1144-1146)gtC>gtT	p.V382V	PTH1R_ENST00000430002.2_Silent_p.V382V|PTH1R_ENST00000418619.1_Silent_p.V382V|PTH1R_ENST00000449590.1_Silent_p.V382V			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	382						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TCAATATCGTCCGGGTGCTCG	0.667000													13	24					0	0	0.003163	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297295	144297295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144297295G>A	ENST00000330824.2	+	4	532	c.457G>A	c.(457-459)Ggg>Agg	p.G153R		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	153					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AACAGGCAAGGGGGCAGGCGG	0.682000													11	25					0	0	0.000978	0	0
PLAGL1	5325	broad.mit.edu	37	6	144262575	144262575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:144262575G>A	ENST00000360537.2	-	5	3291	c.1378C>T	c.(1378-1380)Cat>Tat	p.H460Y	PLAGL1_ENST00000429150.1_Missense_Mutation_p.H460Y|PLAGL1_ENST00000367572.1_Missense_Mutation_p.H408Y|PLAGL1_ENST00000392309.1_Missense_Mutation_p.H460Y|PLAGL1_ENST00000437412.1_Missense_Mutation_p.H408Y|PLAGL1_ENST00000416623.1_Missense_Mutation_p.H460Y|PLAGL1_ENST00000444202.1_Missense_Mutation_p.H460Y|PLAGL1_ENST00000367571.1_Missense_Mutation_p.H460Y|PLAGL1_ENST00000392307.1_Missense_Mutation_p.H408Y|PLAGL1_ENST00000354765.2_Missense_Mutation_p.H460Y			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	460					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CTGAATGCATGATGGAAATGA	0.443000													120	175					0	0	0.003610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450708	85450708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:85450708G>A	ENST00000393217.2	+	8	2198	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	713										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAATATTTCAGAAAAATGCCA	0.388000													106	151					0	0	0.003610	0	0
PLCH1	23007	broad.mit.edu	37	3	155203269	155203269	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:155203269C>T	ENST00000460012.1	-	22	3117	c.2760G>A	c.(2758-2760)agG>agA	p.R920R	PLCH1_ENST00000414191.1_Silent_p.R920R|PLCH1_ENST00000494598.1_Silent_p.R938R|PLCH1_ENST00000334686.6_Silent_p.R920R|PLCH1_ENST00000340059.7_Silent_p.R958R|PLCH1_ENST00000447496.2_Silent_p.R958R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	958					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGTGGTCCTCCTCAGCACGC	0.502000													42	48					0	0	0.001706	0	0
MFRP	83552	broad.mit.edu	37	11	119216990	119216990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:119216990G>A	ENST00000555262.1	-	2	308	c.149C>T	c.(148-150)cCc>cTc	p.P50L	C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.P50L|MFRP_ENST00000530681.1_Missense_Mutation_p.P50L|MFRP_ENST00000360167.4_Missense_Mutation_p.P50L|MFRP_ENST00000529147.1_Intron	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		ACCATGCCAGGGAGCTGGGAC	0.602000													4	8					0	0	0.000248	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45459033	45459033	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:45459033C>T	ENST00000548424.1	+	0	448																											CAAAGTCCTTCACCAACTGGA	0.443000													6	15					0	0	0.001168	0	0
DNAH10	196385	broad.mit.edu	37	12	124311243	124311243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124311243G>A	ENST00000409039.3	+	24	3860	c.3835G>A	c.(3835-3837)Gaa>Aaa	p.E1279K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1279	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGTTGCAAAAGAAGAATGGTC	0.468000													30	45					0	0	0.001786	0	0
SLC39A5	283375	broad.mit.edu	37	12	56626551	56626551	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:56626551G>A	ENST00000266980.4	+	3	659	c.366G>A	c.(364-366)gaG>gaA	p.E122E	SLC39A5_ENST00000454355.2_Silent_p.E122E	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	122					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACCTGGAAGAGTCAAAGGCCC	0.617000													11	31					0	0	0.000673	0	0
PDE6C	5146	broad.mit.edu	37	10	95380680	95380680	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95380680C>T	ENST00000371447.3	+	3	804	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	222	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGTGTCTATCATCCTAAGGC	0.383000													151	241					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857805	9857805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:9857805G>A	ENST00000396573.2	-	14	3905	c.3596C>T	c.(3595-3597)cCg>cTg	p.P1199L	GRIN2A_ENST00000330684.3_Missense_Mutation_p.P1199L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.P1042L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P1199L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P1199L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P1199L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1199					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)	CTCACTGTGCGGGGAACCCTT	0.532000													59	144					0	0	0.003610	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005327	1005327	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1005327C>T	ENST00000234389.3	+	3	1846	c.1827C>T	c.(1825-1827)aaC>aaT	p.N609N		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	609					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTGGCCGCAACCGCAGCACCG	0.667000													22	27					0	0	0.001882	0	0
FGD2	221472	broad.mit.edu	37	6	36976648	36976648	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:36976648A>G	ENST00000274963.8	+	2	278	c.107A>G	c.(106-108)gAc>gGc	p.D36G		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	36					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGGCTAGAGGACGTGCATCAC	0.632000													15	24					0	0	0.004007	0	0
CLDN1	9076	broad.mit.edu	37	3	190039948	190039948	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:190039948C>T	ENST00000295522.3	-	1	316	c.48G>A	c.(46-48)ctG>ctA	p.L16L		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	16					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CGATCCATCCCAGGAAGGCGA	0.667000													15	24					0	0	0.000958	0	0
IFT27	11020	broad.mit.edu	37	22	37154424	37154424	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37154424G>A	ENST00000340630.5	-	7	934	c.489C>T	c.(487-489)ttC>ttT	p.F163F	IFT27_ENST00000453009.2_Silent_p.F123F|IFT27_ENST00000433985.2_Silent_p.F164F	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	164					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAAGGCAGTGGAAAGGGGCTT	0.532000											OREG0026524	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	58					0	0	0.001786	0	0
CSN1S1	1446	broad.mit.edu	37	4	70804900	70804900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:70804900G>A	ENST00000246891.4	+	10	299	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	CSN1S1_ENST00000444405.3_Missense_Mutation_p.E83K|CSN1S1_ENST00000507763.1_Missense_Mutation_p.E83K|CSN1S1_ENST00000505782.1_Missense_Mutation_p.E76K|CSN1S1_ENST00000507772.1_Missense_Mutation_p.E84K	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	84						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TTAGAAGATGGAATCCAGCAT	0.328000													35	62					0	0	0.002222	0	0
BTG2	7832	broad.mit.edu	37	1	203276294	203276294	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:203276294C>T	ENST00000290551.4	+	2	276	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	69					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R69G(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCGCTGCATTCGCATCAACCA	0.612000													10	28					0	0	0.000443	0	0
C6orf118	168090	broad.mit.edu	37	6	165715586	165715586	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:165715586C>T	ENST00000230301.8	-	2	245	c.225G>A	c.(223-225)acG>acA	p.T75T	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	75										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCTGTAAGATCGTCTCCGGAG	0.617000													27	46					0	0	0.001271	0	0
SLC24A3	57419	broad.mit.edu	37	20	19666004	19666004	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:19666004C>T	ENST00000328041.6	+	12	1520	c.1324_splice	c.e12+1	p.P441_splice		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	441						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCGACACCCCCTGTAAGAGGT	0.438000													26	19					0	0	0.002836	0	0
ACTN2	88	broad.mit.edu	37	1	236898975	236898975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:236898975G>A	ENST00000366578.4	+	8	904	c.738G>A	c.(736-738)atG>atA	p.M246I	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	246	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGCCATCATGACGTACGTCT	0.522000													12	20					0	0	0.003163	0	0
MANSC1	54682	broad.mit.edu	37	12	12483157	12483157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:12483157G>A	ENST00000535902.1	-	4	1663	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	MANSC1_ENST00000545735.1_Missense_Mutation_p.S286F|MANSC1_ENST00000396349.3_Missense_Mutation_p.S333F			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	367						integral to membrane		p.S367F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GCCCTGGGAGGAACTGCCTGG	0.483000													19	30					0	0	0.006122	0	0
FAT3	120114	broad.mit.edu	37	11	92565151	92565151	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92565151G>A	ENST00000298047.6	+	13	9862	c.9845G>A	c.(9844-9846)gGg>gAg	p.G3282E	FAT3_ENST00000409404.2_Missense_Mutation_p.G3282E|FAT3_ENST00000525166.1_Missense_Mutation_p.G3132E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3282	Cadherin 30.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACGAACAAGGGAAATTTAAG	0.483000										TCGA Ovarian(4;0.039)			26	54					0	0	0.005443	0	0
PHF3	23469	broad.mit.edu	37	6	64394364	64394364	+	Silent	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:64394364T>C	ENST00000262043.3	+	4	1081	c.741T>C	c.(739-741)gaT>gaC	p.D247D	PHF3_ENST00000509330.1_Silent_p.D247D|PHF3_ENST00000393387.1_Silent_p.D247D			Q92576	PHF3_HUMAN	PHD finger protein 3	247					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAGAAATAGATGTGCCATCTC	0.358000													39	70					0	0	0.001287	0	0
DAO	1610	broad.mit.edu	37	12	109292555	109292555	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:109292555C>T	ENST00000228476.3	+	9	1000	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	DAO_ENST00000551281.1_Silent_p.L200L	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	266					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CTGCTGCAGACTGGAGCCCAC	0.522000													9	21					0	0	0.004482	0	0
DHRS9	10170	broad.mit.edu	37	2	169938037	169938037	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:169938037C>T	ENST00000432060.2	+	2	196	c.126C>T	c.(124-126)caC>caT	p.H42H	DHRS9_ENST00000602501.1_5'UTR|DHRS9_ENST00000412271.1_5'UTR|DHRS9_ENST00000428522.1_5'UTR|DHRS9_ENST00000327239.4_5'UTR|DHRS9_ENST00000436483.2_5'UTR|DHRS9_ENST00000421653.1_Intron|DHRS9_ENST00000357546.2_5'UTR			Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	0					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTCAGGACACCATCTTCTTG	0.378000													9	15					0	0	0.004482	0	0
CNKSR1	10256	broad.mit.edu	37	1	26514758	26514758	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:26514758G>A	ENST00000531191.1	+	16	1721	c.714G>A	c.(712-714)aaG>aaA	p.K238K	CNKSR1_ENST00000374253.5_Silent_p.K503K|CNKSR1_ENST00000361530.6_Silent_p.K496K			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	503	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCATCTCCAAGTACCAGTCTC	0.607000													16	21					0	0	0.004990	0	0
EPB42	2038	broad.mit.edu	37	15	43500525	43500525	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:43500525G>A	ENST00000300215.3	-	8	1525	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	EPB42_ENST00000441366.2_Silent_p.F326F|EPB42_ENST00000540029.1_Silent_p.F248F			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	326					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGAAGTCTGGAAGATCCTGA	0.512000													11	18					0	0	0.001855	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163829	150163829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150163829C>T	ENST00000307271.3	+	2	617	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	15	Poly-Leu.					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCGGCTCCTCCTCCTGGGAAA	0.493000													16	63					0	0	0.003163	0	0
COL4A3	1285	broad.mit.edu	37	2	228148571	228148571	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228148571G>A	ENST00000396578.3	+	33	2907	c.2746_splice	c.e33+1	p.R915_splice	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	915	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)		CAGGGCAGAGGGGTAAGTGAT	0.453000													26	51					0	0	0.003954	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656898	46656898	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:46656898C>T	ENST00000253255.5	-	1	2321	c.2322G>A	c.(2320-2322)caG>caA	p.Q774Q		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	774	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGGCACGTTTCTGAGCATCCC	0.418000													25	48					0	0	0.001271	0	0
NOC2L	26155	broad.mit.edu	37	1	888657	888657	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:888657G>A	ENST00000327044.6	-	9	949	c.900C>T	c.(898-900)atC>atT	p.I300I		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	300			I -> V (in dbSNP:rs3748597).			nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGCTCCATACGATCACCATTC	0.627000													9	16					0	0	0.000978	0	0
ERGIC1	57222	broad.mit.edu	37	5	172324024	172324024	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:172324024C>T	ENST00000393784.3	+	3	241	c.102C>T	c.(100-102)ctC>ctT	p.L34L	ERGIC1_ENST00000523291.1_Silent_p.L34L|ERGIC1_ENST00000519860.1_3'UTR	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	34					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTGCTGCCTCTTCATCCTCT	0.512000													18	9					0	0	0.001216	0	0
MAN1A1	4121	broad.mit.edu	37	6	119569512	119569512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:119569512C>T	ENST00000368468.3	-	6	1346	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	MAN1A1_ENST00000368466.2_Missense_Mutation_p.R325Q	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	302					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TGCTTTCTTTCGAAAAATCTG	0.348000													11	15					0	0	0.001368	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469429	98469429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:98469429C>T	ENST00000339364.5	-	2	444	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	109						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		AGGAACTCCTCGCTGTCCCGC	0.602000													29	36					0	0	0.001786	0	0
ETS2	2114	broad.mit.edu	37	21	40184979	40184979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:40184979C>T	ENST00000360214.3	+	4	585	c.125C>T	c.(124-126)tCt>tTt	p.S42F	ETS2_ENST00000360938.3_Missense_Mutation_p.S42F	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	42					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GTTTTTCCTTCTCTAAATGAA	0.398000													54	88					0	0	0.003610	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147051361	147051361	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:147051361C>T	ENST00000265272.5	-	2	476	c.9G>A	c.(7-9)aaG>aaA	p.K3K	JAKMIP2_ENST00000507386.1_Silent_p.K3K|JAKMIP2_ENST00000333010.6_Intron	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	3						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGCCCTTTCTTGGACATTG	0.458000													12	7					0	0	0.004007	0	0
CNTN1	1272	broad.mit.edu	37	12	41410657	41410657	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:41410657C>T	ENST00000551295.2	+	19	2475	c.2358C>T	c.(2356-2358)gcC>gcT	p.A786A	CNTN1_ENST00000347616.1_Silent_p.A786A|CNTN1_ENST00000348761.2_Silent_p.A775A|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	786	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAGTCAAGGCCTTCAACAACA	0.428000													19	32					0	0	0.000958	0	0
PERP	64065	broad.mit.edu	37	6	138413301	138413301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:138413301C>T	ENST00000421351.3	-	3	630	c.460G>A	c.(460-462)Ggc>Agc	p.G154S		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	154					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus		p.G154S(1)		breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CACCCAAAGCCGTAGGCCCAG	0.532000													20	27					0	0	0.001882	0	0
FCRL5	83416	broad.mit.edu	37	1	157490960	157490960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157490960G>A	ENST00000361835.3	-	11	2519	c.2362C>T	c.(2362-2364)Cat>Tat	p.H788Y	FCRL5_ENST00000356953.4_Missense_Mutation_p.H788Y|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	788	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCCTCATGAAAAAACCGG	0.592000													20	54					0	0	0.001882	0	0
OR10A2	341276	broad.mit.edu	37	11	6891759	6891759	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6891759G>A	ENST00000307322.4	+	1	836	c.774G>A	c.(772-774)aaG>aaA	p.K258K		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	258			K -> T (in dbSNP:rs7926083).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGAGGGCAAGAAGCTGCTAT	0.438000													44	59					0	0	0.003610	0	0
CLIP3	25999	broad.mit.edu	37	19	36509891	36509891	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36509891C>T	ENST00000360535.4	-	9	1319	c.1092G>A	c.(1090-1092)gtG>gtA	p.V364V	CLIP3_ENST00000593074.1_Silent_p.V364V|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	364					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGTGCGTCCACTGCCTTGG	0.627000													20	30					0	0	0.001061	0	0
ADH7	131	broad.mit.edu	37	4	100348964	100348964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:100348964G>A	ENST00000437033.2	-	5	1033	c.530C>T	c.(529-531)tCc>tTc	p.S177F	ADH7_ENST00000209665.4_Missense_Mutation_p.S189F|ADH7_ENST00000482593.1_Missense_Mutation_p.S120F|ADH7_ENST00000476959.1_Missense_Mutation_p.S197F			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	189					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ATATCCAGTGGAAAACCCACA	0.408000													28	23					0	0	0.001512	0	0
SEC22B	9554	broad.mit.edu	37	1	145115915	145115915	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:145115915G>A	ENST00000453618.1	+	0	1001							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CACTGGTAAGGGAGAACCTAG	0.403000													15	147					0	0	0.004007	0	0
RASSF9	9182	broad.mit.edu	37	12	86199212	86199212	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:86199212G>A	ENST00000361228.3	-	2	944	c.576C>T	c.(574-576)tcC>tcT	p.S192S		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	192					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATGGTCCTGGGAAATGATCA	0.383000													62	85					0	0	0.003610	0	0
CRYGD	1421	broad.mit.edu	37	2	208986436	208986436	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:208986436G>A	ENST00000264376.4	-	3	513	c.486C>T	c.(484-486)gcC>gcT	p.A162A		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	162	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGCCCACTCTGGCATTCGTGG	0.493000													16	23					0	0	0.004007	0	0
MYH15	22989	broad.mit.edu	37	3	108117583	108117583	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108117583C>T	ENST00000273353.3	-	36	5150	c.5094G>A	c.(5092-5094)gaG>gaA	p.E1698E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1698						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCTTAGATCCTCTAGTTCAG	0.512000													73	105					0	0	0.003610	0	0
ZNF831	128611	broad.mit.edu	37	20	57766909	57766909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:57766909C>T	ENST00000371030.2	+	1	835	c.835C>T	c.(835-837)Cct>Tct	p.P279S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	279						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)					CAGAGAGGCTCCTTGGGACTC	0.652000													60	40					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110489605	110489605	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110489605G>A	ENST00000378402.5	+	53	9173	c.9069G>A	c.(9067-9069)aaG>aaA	p.K3023K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3023					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATTCCCAAGAAGCGACCAG	0.388000										HNSCC(38;0.096)			20	60					0	0	0.001216	0	0
ASXL3	80816	broad.mit.edu	37	18	31319022	31319022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:31319022C>T	ENST00000269197.5	+	11	1654	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.H552N(1)|p.H259N(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCTATGACTCATGTCAGTGA	0.423000													5	14					0	0	0.000602	0	0
DCHS2	54798	broad.mit.edu	37	4	155157596	155157596	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:155157596G>A	ENST00000357232.3	-	25	6842	c.6843C>T	c.(6841-6843)ttC>ttT	p.F2281F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2281	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGTTAAGGTGAATTTTGTCA	0.353000													21	35					0	0	0.001523	0	0
ACER1	125981	broad.mit.edu	37	19	6309842	6309842	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6309842G>A	ENST00000301452.4	-	4	431	c.354C>T	c.(352-354)tcC>tcT	p.S118S		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	118						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGATGAACTGGGACCTGGGGA	0.617000													18	25					0	0	0.001523	0	0
LRP1B	53353	broad.mit.edu	37	2	141533700	141533700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141533700G>A	ENST00000389484.3	-	33	6438	c.5467C>T	c.(5467-5469)Cat>Tat	p.H1823Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1823					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTTCATATGAACTACCCCA	0.428000										TSP Lung(27;0.18)			16	36					0	0	0.006122	0	0
UBE2M	9040	broad.mit.edu	37	19	59068131	59068131	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:59068131G>A	ENST00000253023.3	-	4	848	c.270C>T	c.(268-270)ccC>ccT	p.P90P		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	90					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		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;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TCACCTTGGGGGGATCATGCG	0.577000													23	37					0	0	0.003954	0	0
CRB1	23418	broad.mit.edu	37	1	197390497	197390497	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:197390497G>A	ENST00000367400.3	+	6	1674	c.1539G>A	c.(1537-1539)agG>agA	p.R513R	CRB1_ENST00000535699.1_Silent_p.R444R|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Silent_p.R212R|CRB1_ENST00000367399.2_Silent_p.R401R|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.R513R	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	513	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAGCCCTCAGGTTTCAGACTG	0.473000													27	36					0	0	0.001271	0	0
COG7	91949	broad.mit.edu	37	16	23444872	23444872	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:23444872A>G	ENST00000307149.5	-	6	989	c.804T>C	c.(802-804)gcT>gcC	p.A268A		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	268					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TTACCTGTGTAGCCCACTGGA	0.547000													21	38					0	0	0.003954	0	0
FAM135B	51059	broad.mit.edu	37	8	139160922	139160922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139160922G>A	ENST00000395297.1	-	14	3459	c.3289C>T	c.(3289-3291)Cag>Tag	p.Q1097*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1097										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)			TCTTTGGCCTGATAAAAACTG	0.393000										HNSCC(54;0.14)			19	15					0	0	0.001216	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32411144	32411144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32411144C>T	ENST00000395388.2	+	3	620	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R146C	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	171	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CCACCTTTTCCGCAAGTTCCA	0.562000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				18	35					0	0	0.001523	0	0
GRB2	2885	broad.mit.edu	37	17	73317851	73317851	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:73317851G>A	ENST00000392562.1	-	5	1139	c.357C>T	c.(355-357)ttC>ttT	p.F119F	GRB2_ENST00000392563.1_Silent_p.F78F|GRB2_ENST00000392564.1_Silent_p.F119F|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000578961.1_Intron|GRB2_ENST00000316615.5_Silent_p.F78F|GRB2_ENST00000316804.5_Silent_p.F119F			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	119	SH2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	CCACCCAGAGGAAGTACTTCC	0.493000													20	5					0	0	0.001523	0	0
CRNN	49860	broad.mit.edu	37	1	152382811	152382811	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152382811C>T	ENST00000271835.3	-	3	809	c.747G>A	c.(745-747)caG>caA	p.Q249Q	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	249	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTCCTGTCTGGTGGCTGC	0.597000													134	108					0	0	0.003610	0	0
BAHD1	22893	broad.mit.edu	37	15	40750728	40750728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:40750728C>T	ENST00000561234.1	+	2	324	c.65C>T	c.(64-66)cCc>cTc	p.P22L	BAHD1_ENST00000416165.1_Missense_Mutation_p.P22L|BAHD1_ENST00000560846.1_Missense_Mutation_p.P22L			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	22					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGCCGAGAGCCCCTGCAGATG	0.607000													27	49					0	0	0.004656	0	0
SALL4	57167	broad.mit.edu	37	20	50408154	50408154	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:50408154T>C	ENST00000217086.4	-	2	979	c.868A>G	c.(868-870)Aaa>Gaa	p.K290E	SALL4_ENST00000395997.3_Missense_Mutation_p.K290E|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	290					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGGCTTGTTTCAAGGCATCC	0.587000													13	50					0	0	0.002450	0	0
ADCY1	107	broad.mit.edu	37	7	45750248	45750248	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:45750248C>T	ENST00000297323.7	+	19	3076	c.3054C>T	c.(3052-3054)atC>atT	p.I1018I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1018					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGGGCAGAATCCAGGTCAGTT	0.577000													12	13					0	0	0.001855	0	0
CLCA3P	9629	broad.mit.edu	37	1	87101645	87101645	+	RNA	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87101645G>T	ENST00000456587.1	-	0	294				CLCA3P_ENST00000466454.1_RNA																							TTAGGCAGATGTCATAGTTGC	0.289000													34	52					1.07121e-22	2.01547e-22	0.001485	1	0
NHLRC1	378884	broad.mit.edu	37	6	18121869	18121869	+	Silent	SNP	G	G	A	rs142941035	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:18121869G>A	ENST00000340650.3	-	1	982	c.969C>T	c.(967-969)tcC>tcT	p.S323S		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	323					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AGGTCACAGCGGAGGCAGTTA	0.493000													28	48					0	0	0.001512	0	0
SIDT1	54847	broad.mit.edu	37	3	113285303	113285303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:113285303G>A	ENST00000264852.4	+	2	985	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SIDT1_ENST00000393830.3_Missense_Mutation_p.E87K	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	87						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CAGTTCCTCTGAGAATCTCAA	0.512000													36	67					0	0	0.005524	0	0
KDM1B	221656	broad.mit.edu	37	6	18207642	18207642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:18207642C>T	ENST00000388870.2	+	16	1914	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.S326L|KDM1B_ENST00000397244.1_Missense_Mutation_p.S326L			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	558					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TCTGCTCGCTCGTGGGACCAC	0.522000													21	45					0	0	0.002780	0	0
MICAL2	9645	broad.mit.edu	37	11	12245040	12245040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:12245040C>T	ENST00000256194.4	+	12	1820	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	MICAL2_ENST00000379612.3_Missense_Mutation_p.S511F|MICAL2_ENST00000342902.5_Missense_Mutation_p.S511F|MICAL2_ENST00000527546.1_Missense_Mutation_p.S511F|MICAL2_ENST00000537344.1_Missense_Mutation_p.S511F	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	511						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTCAACCTCTCCAGGAAGGGT	0.572000													33	47					0	0	0.003755	0	0
FAM227B	196951	broad.mit.edu	37	15	49659779	49659779	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:49659779C>T	ENST00000299338.6	-	13	1440	c.1137G>A	c.(1135-1137)gaG>gaA	p.E379E		NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		CACGATTAAACTCTGGACCAG	0.333000													21	25					0	0	0.002299	0	0
PLCH1	23007	broad.mit.edu	37	3	155200812	155200812	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:155200812C>T	ENST00000460012.1	-	23	3270	c.2913G>A	c.(2911-2913)ggG>ggA	p.G971G	PLCH1_ENST00000414191.1_Silent_p.G971G|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Silent_p.G971G|PLCH1_ENST00000340059.7_Silent_p.G1009G|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1009					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACTTGCTTTCCCTTTTCTTC	0.393000													29	74					0	0	0.001061	0	0
ZNF687	57592	broad.mit.edu	37	1	151259392	151259392	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:151259392A>C	ENST00000368879.2	+	2	723	c.625A>C	c.(625-627)Atg>Ctg	p.M209L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	209	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGCCCAGGCATGCAGCCACC	0.647000													17	45					0	0	0.001216	0	0
GPR63	81491	broad.mit.edu	37	6	97246357	97246357	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:97246357C>T	ENST00000229955.3	-	2	1596	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	GPR63_ENST00000417980.1_Silent_p.T417T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	417						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TTCACACCACCGTCCGATGTT	0.438000													16	25					0	0	0.001216	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31813028	31813028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:31813028C>T	ENST00000334067.3	+	1	432	c.383C>T	c.(382-384)tCa>tTa	p.S128L		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	128						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						ACTACCTTTTCATCCAGGAAT	0.458000													37	81					0	0	0.001951	0	0
CYP3A7	1551	broad.mit.edu	37	7	99305578	99305578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99305578C>T	ENST00000336374.2	-	12	1275	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	425					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TCTATGTTGTCCTTGTTCTTT	0.383000													115	27					0	0	0.003610	0	0
DCST1	149095	broad.mit.edu	37	1	155013989	155013989	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155013989G>A	ENST00000295542.1	+	7	744	c.648G>A	c.(646-648)ggG>ggA	p.G216G	DCST1_ENST00000368419.2_Silent_p.G216G|DCST1_ENST00000423025.2_Silent_p.G191G|DCST1_ENST00000392480.1_Silent_p.G216G	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	216						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGACTCAGGGGAGACAGCCC	0.592000													18	36					0	0	0.006122	0	0
CR2	1380	broad.mit.edu	37	1	207653369	207653369	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207653369C>T	ENST00000367057.3	+	18	3348	c.3159C>T	c.(3157-3159)acC>acT	p.T1053T	CR2_ENST00000367058.3_Silent_p.T994T|CR2_ENST00000367059.3_Silent_p.T932T|CR2_ENST00000458541.2_Silent_p.T967T	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	994					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						TTGTCATTACCTTATACGTGA	0.393000													23	60					0	0	0.001061	0	0
EYA4	2070	broad.mit.edu	37	6	133767784	133767784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:133767784G>A	ENST00000367895.5	+	4	564	c.100G>A	c.(100-102)Gac>Aac	p.D34N	EYA4_ENST00000531901.1_Missense_Mutation_p.D34N|EYA4_ENST00000355286.6_Missense_Mutation_p.D34N|EYA4_ENST00000525849.1_Missense_Mutation_p.D34N|EYA4_ENST00000355167.3_Missense_Mutation_p.D34N|EYA4_ENST00000452339.2_Missense_Mutation_p.D34N|EYA4_ENST00000431403.2_Missense_Mutation_p.D34N|EYA4_ENST00000430974.2_Missense_Mutation_p.D34N	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	34					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GGAAATGCAGGACCTAGCAAG	0.393000													19	38					0	0	0.002299	0	0
SNRPB	6628	broad.mit.edu	37	20	2443766	2443766	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:2443766G>A	ENST00000339610.6	-	6	746	c.291C>T	c.(289-291)ccC>ccT	p.P97P	SNRPB_ENST00000381342.2_Silent_p.P176P|SNRPB_ENST00000438552.2_Silent_p.P176P			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	176					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCATAGGTGGGGGAGGACCCC	0.587000													6	72					0	0	0.001984	0	0
SLC2A14	144195	broad.mit.edu	37	12	7985410	7985410	+	Splice_Site	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7985410C>A	ENST00000543909.1	-	8	847	c.87_splice	c.e8-1	p.V30_splice	SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Splice_Site_p.V7_splice|SLC2A14_ENST00000539924.1_Splice_Site_p.V45_splice|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000396589.2_Splice_Site_p.V30_splice|SLC2A14_ENST00000340749.5_Splice_Site_p.V7_splice			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	30					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCTGGGGTGACCTGGAGAGAC	0.458000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	35					1.9806e-07	3.69862e-07	0.002299	1	0
CD244	51744	broad.mit.edu	37	1	160811674	160811674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160811674C>T	ENST00000368034.4	-	2	256	c.79G>A	c.(79-81)Gac>Aac	p.D27N	CD244_ENST00000322302.7_Missense_Mutation_p.D27N|CD244_ENST00000368033.3_Missense_Mutation_p.D27N|CD244_ENST00000368032.2_Missense_Mutation_p.D27N	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	27	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACCACATGGTCAGCTGATCCC	0.512000													17	28					0	0	0.000958	0	0
SORL1	6653	broad.mit.edu	37	11	121490578	121490578	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121490578C>T	ENST00000260197.7	+	43	5970	c.5841C>T	c.(5839-5841)tcC>tcT	p.S1947S	SORL1_ENST00000532694.1_Silent_p.S793S|SORL1_ENST00000534286.1_Silent_p.S857S|SORL1_ENST00000525532.1_Silent_p.S891S|SORL1_ENST00000527934.1_Silent_p.S562S	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1947	Fibronectin type-III 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.S1947S(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCAAAACCTCCGTGGTCATCA	0.557000													27	48					0	0	0.002096	0	0
TTN	7273	broad.mit.edu	37	2	179600660	179600660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179600660G>A	ENST00000589042.1	-	50	14737	c.14513C>T	c.(14512-14514)tCa>tTa	p.S4838L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S4521L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S3594L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4521	Ig-like 28.						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)			CCAGTTAGGTGAAGGTGAGAG	0.438000													22	51					0	0	0.004656	0	0
CIDEA	1149	broad.mit.edu	37	18	12254390	12254390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:12254390C>T	ENST00000320477.9	+	1	73	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	3					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GCCATGGAGGCCGCCCGGGAC	0.706000													8	3					0	0	0.000673	0	0
NLRP5	126206	broad.mit.edu	37	19	56539526	56539526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56539526G>A	ENST00000390649.3	+	7	1927	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	643						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTCGTGAGCGAAGACGTAAG	0.557000													17	34					0	0	0.004007	0	0
RBMS3	27303	broad.mit.edu	37	3	29476267	29476267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:29476267C>T	ENST00000434693.2	+	2	806	c.106C>T	c.(106-108)Cct>Tct	p.P36S	RBMS3_ENST00000456853.1_Missense_Mutation_p.P37S|RBMS3_ENST00000273139.9_Missense_Mutation_p.P37S|RBMS3_ENST00000445033.1_Missense_Mutation_p.P37S|RBMS3_ENST00000383766.2_Missense_Mutation_p.P36S|RBMS3_ENST00000383767.2_Missense_Mutation_p.P37S|RBMS3_ENST00000396583.3_Missense_Mutation_p.P37S|RBMS3_ENST00000452462.1_Missense_Mutation_p.P37S	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	37						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCCCATGGCTCCTCCCAGCCC	0.537000													18	28					0	0	0.001216	0	0
REM2	161253	broad.mit.edu	37	14	23354069	23354069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23354069C>T	ENST00000267396.4	+	2	413	c.290C>T	c.(289-291)tCg>tTg	p.S97L	REM2_ENST00000536884.1_Missense_Mutation_p.S97L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	97					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TCCTCTGGCTCGTCTGACTCC	0.612000													21	39					0	0	0.001882	0	0
EEF2K	29904	broad.mit.edu	37	16	22269973	22269973	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:22269973C>T	ENST00000263026.5	+	10	1662	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	396					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCCTTCTTCCCCATCTTCGG	0.607000													19	25					0	0	0.001882	0	0
FSIP1	161835	broad.mit.edu	37	15	39910272	39910272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39910272C>T	ENST00000350221.3	-	11	1572	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	455								p.E455*(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GTTTCTGATTCATTTAGCAAT	0.393000													45	50					0	0	0.002852	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434829	1434829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1434829C>T	ENST00000233078.4	+	12	1303	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	DAZAP1_ENST00000336761.6_3'UTR	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	381	Pro-rich.		S -> T (in a breast cancer sample; somatic mutation).		cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GTGCCAGGGTcggggggcccc	0.711000													11	14					0	0	0.000978	0	0
FREM1	158326	broad.mit.edu	37	9	14859410	14859410	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:14859410G>A	ENST00000380881.4	-	5	1217	c.402C>T	c.(400-402)atC>atT	p.I134I	FREM1_ENST00000422223.2_Silent_p.I134I|FREM1_ENST00000380880.3_Silent_p.I134I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	134					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATATGGATGATGTTACAGT	0.408000													60	35					0	0	0.003610	0	0
GNL1	2794	broad.mit.edu	37	6	30515194	30515194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:30515194G>A	ENST00000376621.3	-	9	2183	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	405	G.				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTCACAGAGGGGGTAAGAAAG	0.562000													75	86					0	0	0.003610	0	0
CELA3B	23436	broad.mit.edu	37	1	22303555	22303555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:22303555C>T	ENST00000337107.6	+	1	42	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	8					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CTGCTCAGTTCCCTCCTCCTT	0.527000													102	103					0	0	0.003610	0	0
PSG1	5669	broad.mit.edu	37	19	43382318	43382318	+	Silent	SNP	G	G	A	rs139949881		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43382318G>A	ENST00000244296.2	-	2	314	c.177C>T	c.(175-177)ccC>ccT	p.P59P	PSG1_ENST00000436291.2_Silent_p.P59P|PSG1_ENST00000595356.1_Silent_p.P59P|PSG1_ENST00000403380.3_Silent_p.P59P|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Silent_p.P59P|PSG1_ENST00000595124.1_Silent_p.P59P	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TAAGATTCTGGGGCAAATTGT	0.463000													91	99					0	0	0.003610	0	0
MTUS2	23281	broad.mit.edu	37	13	29599243	29599243	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:29599243G>A	ENST00000431530.3	+	1	496	c.438G>A	c.(436-438)agG>agA	p.R146R		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	136						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGAGTTGGAGGAATGTGATGA	0.507000													61	41					0	0	0.003610	0	0
ALKBH2	121642	broad.mit.edu	37	12	109530456	109530456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:109530456G>A	ENST00000429722.2	-	2	499	c.136C>T	c.(136-138)Cca>Tca	p.P46S	ALKBH2_ENST00000440112.2_Missense_Mutation_p.P46S|ALKBH2_ENST00000343075.3_Missense_Mutation_p.P46S	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	46					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCATTCCCTGGGGCCTCTCTC	0.587000								Direct reversal of damage					43	63					0	0	0.001706	0	0
AHR	196	broad.mit.edu	37	7	17378725	17378725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:17378725C>T	ENST00000242057.4	+	10	1919	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	426					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CATAATGGATCCCTTACCACT	0.448000													45	72					0	0	0.003610	0	0
LINC01098	285501	broad.mit.edu	37	4	178897069	178897069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:178897069C>T	ENST00000507870.1	+	5	734	c.272C>T	c.(271-273)tCt>tTt	p.S91F																	lung(8)|prostate(1)	9						GTGTCTGATTCTCTGAAGTAT	0.388000													64	99					0	0	0.003610	0	0
GAS2L3	283431	broad.mit.edu	37	12	101012316	101012316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:101012316C>T	ENST00000537247.1	+	8	1241	c.287C>T	c.(286-288)tCc>tTc	p.S96F	GAS2L3_ENST00000547754.1_Missense_Mutation_p.S200F|GAS2L3_ENST00000539410.1_Missense_Mutation_p.S200F|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S200F			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	200	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CCTGAAGATTCCATCAGCATT	0.408000													31	41					0	0	0.002096	0	0
KIAA0368	23392	broad.mit.edu	37	9	114187776	114187776	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:114187776G>A	ENST00000259335.4	-	13	1670	c.1670_splice	c.e13-1	p.T557_splice	KIAA0368_ENST00000338205.5_Splice_Site_p.T379_splice	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTTCTGGACAGCTTTAAATAA	0.323000													13	3					0	0	0.003163	0	0
PHYH	5264	broad.mit.edu	37	10	13336432	13336432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:13336432G>A	ENST00000396920.3	-	4	757	c.353C>T	c.(352-354)cCc>cTc	p.P118L	PHYH_ENST00000263038.4_Missense_Mutation_p.P137L|PHYH_ENST00000396913.2_Missense_Mutation_p.P37L			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	137					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCTGACCTCGGGGAGAGTGCA	0.517000													14	30					0	0	0.004007	0	0
FSCN3	29999	broad.mit.edu	37	7	127240292	127240292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:127240292C>T	ENST00000265825.5	+	6	1555	c.1336C>T	c.(1336-1338)Cgc>Tgc	p.R446C	FSCN3_ENST00000420086.2_Missense_Mutation_p.S310L	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	446						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCACCTTTCGCCCTTGGGG	0.557000													41	14					0	0	0.003610	0	0
PCNXL2	80003	broad.mit.edu	37	1	233398892	233398892	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:233398892C>T	ENST00000258229.8	-	2	405	c.171G>A	c.(169-171)gcG>gcA	p.A57A	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	57						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ATACAATGATCGCATTTGGAG	0.338000													11	25					0	0	0.000673	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731149	185731149	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:185731149A>T	ENST00000302277.6	+	2	759	c.165A>T	c.(163-165)gcA>gcT	p.A55A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	55						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATCTGAAGGCAAATTTTTACT	0.383000													11	25					0	0	0.001855	0	0
CSMD1	64478	broad.mit.edu	37	8	2949063	2949063	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:2949063C>T	ENST00000602557.1	-	49	7818	c.7263G>A	c.(7261-7263)aaG>aaA	p.K2421K	CSMD1_ENST00000602723.1_Silent_p.K2421K|CSMD1_ENST00000542608.1_Silent_p.K2420K|CSMD1_ENST00000520002.1_Silent_p.K2421K|CSMD1_ENST00000537824.1_Silent_p.K2420K|CSMD1_ENST00000400186.3_Silent_p.K2421K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2421	CUB 14.					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)		TGAATCCTTTCTTACTGGTGG	0.333000													31	11					0	0	0.005524	0	0
COL3A1	1281	broad.mit.edu	37	2	189869026	189869026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:189869026G>A	ENST00000304636.3	+	40	3037	c.2867G>A	c.(2866-2868)cGg>cAg	p.R956Q	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	956	Triple-helical region.				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)	ACTGGAGCACGGGGTCTTGCA	0.512000													10	15					0	0	0.001368	0	0
LRRC1	55227	broad.mit.edu	37	6	53764587	53764587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:53764587G>A	ENST00000370888.1	+	8	962	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	229						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AGATGTCTCTGAAAACAGGTT	0.403000													29	31					0	0	0.001786	0	0
OR8B12	219858	broad.mit.edu	37	11	124413460	124413460	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124413460G>A	ENST00000306842.2	-	1	115	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TAGAAACCCAGAAACAGGAAG	0.507000													21	33					0	0	0.001216	0	0
FRG1	2483	broad.mit.edu	37	4	190873350	190873350	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:190873350T>A	ENST00000226798.4	+	3	389	c.167T>A	c.(166-168)aTt>aAt	p.I56N	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	56					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTTGGTGAAATTTCAGGAACC	0.338000													52	98					0	0	0.003610	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159496	92159496	+	Missense_Mutation	SNP	G	G	A	rs139686935		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:92159496G>A	ENST00000256343.3	-	9	961	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	269					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R269C(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GATGGATAACGAAGATCTTCA	0.323000													85	20					0	0	0.003610	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758126	40758126	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:40758126T>A	ENST00000372759.3	+	10	1378	c.1213T>A	c.(1213-1215)Ttt>Att	p.F405I		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	405						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	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;6.3e-18)			GGTTCTTTCTTTTTGCCTAAC	0.398000													58	100					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	215848679	215848679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215848679G>A	ENST00000366943.2	-	63	12960	c.12574C>T	c.(12574-12576)Cgc>Tgc	p.R4192C	USH2A_ENST00000307340.3_Missense_Mutation_p.R4192C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4192	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R4192C(1)		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)		AAGCATCTGCGAATCACTTCA	0.438000										HNSCC(13;0.011)			59	63					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	71113793	71113793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:71113793G>A	ENST00000393567.2	-	13	1883	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	HYDIN_ENST00000288168.10_Missense_Mutation_p.S595F|HYDIN_ENST00000321489.5_Missense_Mutation_p.S578F|HYDIN_ENST00000541601.1_Missense_Mutation_p.S595F|HYDIN_ENST00000538248.1_Missense_Mutation_p.S605F|HYDIN_ENST00000543639.1_5'UTR|HYDIN_ENST00000448089.2_Missense_Mutation_p.S578F|HYDIN_ENST00000393550.2_Missense_Mutation_p.S578F|HYDIN_ENST00000448691.1_Missense_Mutation_p.S578F	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	578										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCACCAAAGGAAACATCACC	0.438000													5	8					0	0	0.001984	0	0
RANBP17	64901	broad.mit.edu	37	5	170345783	170345783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:170345783C>T	ENST00000523189.1	+	10	1185	c.1021C>T	c.(1021-1023)Cag>Tag	p.Q341*		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	341					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACAAATTATCAGCTGGGAGA	0.313000			T	TRD@	ALL								26	10					0	0	0.003954	0	0
LPA	4018	broad.mit.edu	37	6	161071386	161071386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:161071386C>T	ENST00000447678.1	-	3	313	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	LPA_ENST00000316300.5_Missense_Mutation_p.E65K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	2573	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGTAGTTTTCTGTGGTCCTA	0.418000													78	93					0	0	0.003610	0	0
HHLA2	11148	broad.mit.edu	37	3	108072364	108072364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108072364C>T	ENST00000357759.5	+	4	569	c.155C>T	c.(154-156)tCa>tTa	p.S52L	HHLA2_ENST00000467761.1_Missense_Mutation_p.S52L|HHLA2_ENST00000491820.1_Missense_Mutation_p.S52L|HHLA2_ENST00000467562.1_Intron|HHLA2_ENST00000489514.2_Missense_Mutation_p.S52L	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	52						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CTCCCTTCTTCATTTGAGAGG	0.383000													8	8					0	0	0.004482	0	0
BAZ1A	11177	broad.mit.edu	37	14	35264087	35264087	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:35264087G>A	ENST00000360310.1	-	11	1798	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S	BAZ1A_ENST00000382422.2_Missense_Mutation_p.P411S|BAZ1A_ENST00000358716.4_Missense_Mutation_p.P411S	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	411					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)		GTTGGTTCTGGAAGTTCCTGA	0.353000													55	6					0	0	0.003610	0	0
NEXN	91624	broad.mit.edu	37	1	78395031	78395031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:78395031G>A	ENST00000330010.8	+	8	1000	c.703G>A	c.(703-705)Gca>Aca	p.A235T	NEXN_ENST00000334785.7_Missense_Mutation_p.A299T|NEXN_ENST00000457030.1_Missense_Mutation_p.A285T	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	299	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CCAAGACACAGCAAAAATTTT	0.323000													15	40					0	0	0.004007	0	0
LMTK3	114783	broad.mit.edu	37	19	49012212	49012212	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49012212C>T	ENST00000600059.1	-	5	680	c.453G>A	c.(451-453)gaG>gaA	p.E151E	LMTK3_ENST00000270238.3_Silent_p.E180E					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CGGAGAAAATCTCTCCCAGGA	0.657000													24	32					0	0	0.003954	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409854	105409854	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:105409854G>A	ENST00000333244.5	-	7	12053	c.11934C>T	c.(11932-11934)ttC>ttT	p.F3978F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3978						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGACACCCCGAACGACGGCA	0.617000													156	21					0	0	0.003610	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342548	40342548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:40342548C>T	ENST00000406785.1	-	8	2848	c.2659G>A	c.(2659-2661)Ggg>Agg	p.G887R	SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G923R|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G887R|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G918R|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G887R|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G887R|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G918R|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G915R|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G887R|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G923R|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	923					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGCAGCACCCCCACATTGATG	0.557000													16	42					0	0	0.004990	0	0
HSPG2	3339	broad.mit.edu	37	1	22207321	22207321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:22207321G>A	ENST00000374695.3	-	15	1905	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	609	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCGCCATAGGAGTCCACCTG	0.632000													4	9					0	0	0.000602	0	0
EFCAB6	64800	broad.mit.edu	37	22	44028011	44028011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:44028011G>A	ENST00000262726.7	-	19	2459	c.2206C>T	c.(2206-2208)Cct>Tct	p.P736S	EFCAB6_ENST00000396231.2_Missense_Mutation_p.P584S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCCTCCTAGGGAAAAGCTTC	0.567000													39	60					0	0	0.002222	0	0
RGS8	85397	broad.mit.edu	37	1	182615949	182615949	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:182615949T>A	ENST00000483095.2	-	7	721	c.464A>T	c.(463-465)gAg>gTg	p.E155V	RGS8_ENST00000367557.4_Missense_Mutation_p.E155V|RGS8_ENST00000258302.4_Missense_Mutation_p.E173V|RGS8_ENST00000367556.1_Missense_Mutation_p.E155V			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	155	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AGAGTCTTTCTCCATGAGGCT	0.517000													94	59					0	0	0.003610	0	0
CNR2	1269	broad.mit.edu	37	1	24201874	24201874	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:24201874C>T	ENST00000536471.1	-	3	492	c.234G>A	c.(232-234)ggG>ggA	p.G78G	CNR2_ENST00000374472.4_Silent_p.G78G			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	78					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGAAGTCAGCCCCAGCCAAGC	0.537000													29	34					0	0	0.001786	0	0
ANK3	288	broad.mit.edu	37	10	61832682	61832682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61832682C>T	ENST00000280772.1	-	37	8148	c.7957G>A	c.(7957-7959)Ggc>Agc	p.G2653S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2653					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCATCAGGGCCATGCTGTCTT	0.537000													16	26					0	0	0.004007	0	0
SUFU	51684	broad.mit.edu	37	10	104377253	104377253	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:104377253C>T	ENST00000423559.2	+	10	1438	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L	SUFU_ENST00000369902.3_Intron|SUFU_ENST00000369899.2_Intron			Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	457					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCCTCTTCTCCCTTGGCAGCT	0.562000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				18	16					0	0	0.004990	0	0
GALR1	2587	broad.mit.edu	37	18	74980603	74980603	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:74980603C>T	ENST00000299727.3	+	3	795	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	265					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGCACCACATCATCCATCTCT	0.557000													47	70					0	0	0.003610	0	0
TBXAS1	6916	broad.mit.edu	37	7	139636058	139636058	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:139636058G>T	ENST00000263552.6	+	9	943	c.405G>T	c.(403-405)gaG>gaT	p.E135D	TBXAS1_ENST00000436047.2_Missense_Mutation_p.E135D|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E135D|TBXAS1_ENST00000425687.1_Missense_Mutation_p.E67D|TBXAS1_ENST00000411653.1_Missense_Mutation_p.E134D|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000336425.5_Missense_Mutation_p.E134D|TBXAS1_ENST00000416849.2_Missense_Mutation_p.E135D|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E134D|TBXAS1_ENST00000448866.1_Missense_Mutation_p.E134D	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	134					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GATGGGAAGAGGTCAGAGGTG	0.493000													128	84					6.63191e-72	1.25076e-71	0.003610	1	0
GRIA1	2890	broad.mit.edu	37	5	153181972	153181972	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:153181972C>T	ENST00000285900.5	+	15	2785	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	GRIA1_ENST00000518142.1_Silent_p.I734I|GRIA1_ENST00000448073.4_Silent_p.I824I|GRIA1_ENST00000340592.5_Silent_p.I814I|GRIA1_ENST00000518783.1_Silent_p.I824I|GRIA1_ENST00000521843.2_Silent_p.I745I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	814					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACATCCTGATCGGAGGACTTG	0.532000													38	26					0	0	0.001287	0	0
BGN	633	broad.mit.edu	37	X	152771449	152771449	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:152771449C>T	ENST00000331595.4	+	4	666	c.480C>T	c.(478-480)tcC>tcT	p.S160S	BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Silent_p.S99S	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	160						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACCCAGCTCCCTGGTGGAGC	0.607000													11	2					0	0	0.001368	0	0
OTOA	146183	broad.mit.edu	37	16	21747593	21747593	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:21747593C>T	ENST00000388958.3	+	21	2314	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	OTOA_ENST00000286149.4_Silent_p.I785I|OTOA_ENST00000388957.3_Silent_p.I447I|OTOA_ENST00000388956.4_Silent_p.I692I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	785					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTCCTGAGATCCTTCTGCAAG	0.418000													23	25					0	0	0.004656	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18707036	18707036	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:18707036C>A	ENST00000380548.4	+	14	2205	c.1866C>A	c.(1864-1866)tcC>tcA	p.S622S	ADAMTSL1_ENST00000276935.6_Silent_p.S622S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	622	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCTCCGAGTCCTGTGGAGGAG	0.537000													11	7					1.5842e-08	2.96071e-08	0.001855	1	0
XIRP2	129446	broad.mit.edu	37	2	168101389	168101389	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168101389C>T	ENST00000409195.1	+	9	3576	c.3487C>T	c.(3487-3489)Cgt>Tgt	p.R1163C	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1163C|XIRP2_ENST00000409273.1_Missense_Mutation_p.R941C|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	988					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						TGGGGATGTTCGTACAGCATG	0.403000													10	24					0	0	0.000978	0	0
SNHG14	104472715	broad.mit.edu	37	15	25336855	25336855	+	RNA	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:25336855T>C	ENST00000546682.1	+	0	958				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TGGGTGCTGGTGGATCCCACA	0.502000													7	8					0	0	0.001984	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49376560	49376560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49376560C>T	ENST00000200453.5	+	2	339	c.70C>T	c.(70-72)Cca>Tca	p.P24S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	24	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCTCCTGTCCCCAGTGATGGG	0.627000													14	12					0	0	0.001855	0	0
COL5A2	1290	broad.mit.edu	37	2	189907490	189907490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:189907490C>T	ENST00000374866.3	-	49	3755	c.3481G>A	c.(3481-3483)Ggt>Agt	p.G1161S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1161					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTTGTTCACCATTTGGACCC	0.378000													18	15					0	0	0.006122	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840634	36840634	+	RNA	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:36840634T>C	ENST00000557188.1	+	0	265																											CCCATCACAGTTTAATCCAAC	0.478000													22	2					0	0	0.003954	0	0
MXRA5	25878	broad.mit.edu	37	X	3239094	3239094	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:3239094C>T	ENST00000217939.6	-	5	4786	c.4632G>A	c.(4630-4632)gtG>gtA	p.V1544V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1544						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCATTGTTCACTGGGGTTG	0.418000													69	5					0	0	0.003610	0	0
ZNF786	136051	broad.mit.edu	37	7	148768999	148768999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:148768999G>A	ENST00000316286.9	-	3	879	c.607C>T	c.(607-609)Ccg>Tcg	p.P203S	ZNF786_ENST00000451334.3_Missense_Mutation_p.P252S|ZNF786_ENST00000491431.1_Missense_Mutation_p.P289S			Q8N393	ZN786_HUMAN	zinc finger protein 786	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCTGCTGCGGGAGGCGGTGG	0.711000													15	12					0	0	0.004990	0	0
F10	2159	broad.mit.edu	37	13	113803279	113803279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:113803279G>A	ENST00000375551.3	+	8	947	c.905G>A	c.(904-906)tGg>tAg	p.W302*	F10_ENST00000409306.1_Nonsense_Mutation_p.W304*|F10_ENST00000375559.3_Silent_p.V305V			P00742	FA10_HUMAN	coagulation factor X	0	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCACGAGGTGGAGGTGGTCA	0.622000													41	21					0	0	0.002852	0	0
NCAPD3	23310	broad.mit.edu	37	11	134079247	134079247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:134079247G>A	ENST00000534548.2	-	5	756	c.692C>T	c.(691-693)tCc>tTc	p.S231F		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	231					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCTTTCAAGGAAAACTTTGG	0.368000													27	37					0	0	0.005443	0	0
MYOF	26509	broad.mit.edu	37	10	95088581	95088581	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95088581G>A	ENST00000371501.4	-	45	5192	c.5070C>T	c.(5068-5070)atC>atT	p.I1690I	MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000359263.4_Silent_p.I1690I|MYOF_ENST00000358334.5_Silent_p.I1677I|MYOF_ENST00000371502.4_Silent_p.I1709I			Q9NZM1	MYOF_HUMAN	myoferlin	1690					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTCGGAAAGGATGGGTTGTG	0.458000													72	143					0	0	0.003610	0	0
CDK9	1025	broad.mit.edu	37	9	130550269	130550269	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:130550269C>T	ENST00000373265.2	+	4	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F	CDK9_ENST00000373264.4_Silent_p.F103F|CDK9_ENST00000480353.1_3'UTR			P50750	CDK9_HUMAN	cyclin-dependent kinase 9	103	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(1)	1						ACCTGGTGTTCGACTTCTGCG	0.488000													53	11					0	0	0.003610	0	0
MYO3B	140469	broad.mit.edu	37	2	171248117	171248117	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:171248117A>T	ENST00000334231.6	+	15	1692	c.1692A>T	c.(1690-1692)gaA>gaT	p.E564D	MYO3B_ENST00000408978.4_Missense_Mutation_p.E555D|MYO3B_ENST00000409044.3_Missense_Mutation_p.E555D|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	555	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTCCTGAGGAAAAACCTCCTA	0.348000													17	33					0	0	0.001216	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442629	22442629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:22442629C>T	ENST00000265810.4	+	4	530	c.415C>T	c.(415-417)Cca>Tca	p.P139S	PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000397761.2_Missense_Mutation_p.P139S|PDLIM2_ENST00000397760.4_Missense_Mutation_p.P139S|PDLIM2_ENST00000339162.7_Missense_Mutation_p.P139S|PDLIM2_ENST00000409417.1_Missense_Mutation_p.P139S|PDLIM2_ENST00000308354.7_Missense_Mutation_p.P389S|PDLIM2_ENST00000409141.1_Missense_Mutation_p.P139S	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	139	Ser-rich.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		CTTCTCACCACCACCCTCTAG	0.647000													47	11					0	0	0.003610	0	0
SHROOM3	57619	broad.mit.edu	37	4	77661937	77661937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77661937G>A	ENST00000296043.6	+	5	3564	c.2611G>A	c.(2611-2613)Gcg>Acg	p.A871T		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	871					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGCGGAGGAGCGTCGGACAG	0.672000													12	15					0	0	0.000978	0	0
SRD5A2	6716	broad.mit.edu	37	2	31756538	31756538	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:31756538G>A	ENST00000405650.1	-	0	615				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TAAATAAGAAGACACCTTGAC	0.373000													6	11					0	0	0.003080	0	0
COL5A3	50509	broad.mit.edu	37	19	10080330	10080330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:10080330C>T	ENST00000264828.3	-	56	4104	c.4019G>A	c.(4018-4020)gGg>gAg	p.G1340E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1340	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			ACCCGTCCTCCCTGGGGGCCC	0.677000													6	7					0	0	0.001168	0	0
ACOT12	134526	broad.mit.edu	37	5	80643676	80643676	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:80643676G>A	ENST00000307624.3	-	6	598	c.570C>T	c.(568-570)ctC>ctT	p.L190L		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	190	Acyl coenzyme A hydrolase 2.		L -> H (found in a clear cell renal carcinoma case; somatic mutation).		acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CATGGGGTGGGAGGACCAGTT	0.468000													84	41					0	0	0.003610	0	0
CA8	767	broad.mit.edu	37	8	61178561	61178561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:61178561C>T	ENST00000317995.4	-	3	604	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	114					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				AATCTCACTTCGTACAGTTCA	0.403000													20	24					0	0	0.001216	0	0
LAD1	3898	broad.mit.edu	37	1	201355941	201355941	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201355941G>A	ENST00000391967.2	-	3	849	c.548C>T	c.(547-549)tCc>tTc	p.S183F	LAD1_ENST00000367313.3_Missense_Mutation_p.S197F	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	183						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TGGCATGGAGGACTTCTCCAA	0.567000													25	56					0	0	0.001271	0	0
DAB1	1600	broad.mit.edu	37	1	57535040	57535040	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:57535040A>T	ENST00000371236.2	-	8	919	c.656T>A	c.(655-657)aTt>aAt	p.I219N	DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371234.4_Missense_Mutation_p.I219N|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.I219N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	219					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TACCTGATAAATGTTTTCTTC	0.423000													49	76					0	0	0.003610	0	0
IGFBP6	3489	broad.mit.edu	37	12	53495889	53495889	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53495889T>A	ENST00000548547.1	+	4	937	c.655T>A	c.(655-657)Tcc>Acc	p.S219T	IGFBP6_ENST00000549628.1_3'UTR|IGFBP6_ENST00000301464.3_Missense_Mutation_p.S221T			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	221	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GATGGGCAAGTCCCTGCCAGG	0.652000													18	12					0	0	0.000958	0	0
PCLO	27445	broad.mit.edu	37	7	82764365	82764365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82764365G>A	ENST00000423517.2	-	3	2838	c.2501C>T	c.(2500-2502)cCt>cTt	p.P834L	PCLO_ENST00000333891.8_Missense_Mutation_p.P834L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	780	Pro-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						ACTGGGACCAGGATGTGAAAT	0.423000													69	174					0	0	0.003610	0	0
PROKR2	128674	broad.mit.edu	37	20	5283203	5283203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:5283203G>A	ENST00000546004.1	-	3	884	c.638C>T	c.(637-639)cCt>cTt	p.P213L	PROKR2_ENST00000217270.3_Missense_Mutation_p.P213L			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	213						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.P213H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGATCCACAGGCCAGATCTG	0.512000										HNSCC(71;0.22)			9	60					0	0	0.000673	0	0
OCIAD2	132299	broad.mit.edu	37	4	48894836	48894836	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:48894836A>T	ENST00000508632.1	-	6	568	c.336T>A	c.(334-336)ttT>ttA	p.F112L	OCIAD2_ENST00000508069.2_5'UTR|OCIAD2_ENST00000273860.4_Intron	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	112	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						GATCTTCAAAAAAATGGAATT	0.398000													71	102					0	0	0.003610	0	0
C3orf17	25871	broad.mit.edu	37	3	112738443	112738443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:112738443G>A	ENST00000314400.5	-	1	243	c.52C>T	c.(52-54)Cct>Tct	p.P18S	RP11-572M11.4_ENST00000470313.1_RNA|RP11-572M11.4_ENST00000467342.1_RNA|C3orf17_ENST00000383675.2_Missense_Mutation_p.P18S|C3orf17_ENST00000393857.2_5'UTR|RP11-572M11.4_ENST00000460707.1_RNA|RP11-572M11.4_ENST00000496389.1_RNA	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	18						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CCCGCCTTAGGGATTCTCACA	0.692000													6	12					0	0	0.000443	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21375290	21375290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21375290G>A	ENST00000256958.2	+	13	1835	c.1739G>A	c.(1738-1740)cGa>cAa	p.R580Q		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	580					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ATGGTTATACGAGCACTAGGT	0.229000													36	37					0	0	0.004289	0	0
CCT2	10576	broad.mit.edu	37	12	69980054	69980054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:69980054C>T	ENST00000299300.6	+	2	196	c.8C>T	c.(7-9)tCc>tTc	p.S3F	CCT2_ENST00000544368.2_Missense_Mutation_p.S3F|CCT2_ENST00000543146.2_5'UTR	NM_006431.2	NP_006422.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	3					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTTCAGGCGTCCCTTTCCCTT	0.443000											OREG0021987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	57					0	0	0.003954	0	0
KCNH3	23416	broad.mit.edu	37	12	49938131	49938131	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:49938131G>A	ENST00000257981.6	+	7	1415	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	385					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCCAGCGGGAGATCGAGAGCA	0.617000													5	13					0	0	0.001984	0	0
ZNF485	220992	broad.mit.edu	37	10	44112749	44112749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:44112749C>T	ENST00000361807.3	+	5	1452	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	ZNF485_ENST00000374437.2_Missense_Mutation_p.P329S|ZNF485_ENST00000374435.3_Missense_Mutation_p.P420S	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	420					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						GAAAGCTTTTCCCCGAAGTTC	0.398000													14	24					0	0	0.002450	0	0
AHDC1	27245	broad.mit.edu	37	1	27878223	27878223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:27878223G>A	ENST00000374011.2	-	6	1372	c.404C>T	c.(403-405)tCc>tTc	p.S135F	AHDC1_ENST00000247087.5_Missense_Mutation_p.S135F|AHDC1_ENST00000482400.2_5'UTR	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	135	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CAGGTCCTGGGAGAGGCGTGT	0.647000													69	108					0	0	0.003610	0	0
NDN	4692	broad.mit.edu	37	15	23931560	23931560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:23931560C>T	ENST00000331837.4	-	1	890	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	269	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.E269K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTGGTGATTTCGCGGCTGGCC	0.572000									Prader-Willi syndrome				14	22					0	0	0.001855	0	0
SYT16	83851	broad.mit.edu	37	14	62536444	62536444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:62536444G>A	ENST00000430451.2	+	2	844	c.647G>A	c.(646-648)gGa>gAa	p.G216E	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.G216E	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	216										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCTGAGAAAGGAAAGCAGACA	0.488000													62	12					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9063558	9063558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9063558G>A	ENST00000397910.4	-	3	24091	c.23888C>T	c.(23887-23889)cCc>cTc	p.P7963L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7965	Ser-rich.|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						TTCCAGAAGGGGAGGGCTCAT	0.458000													25	30					0	0	0.002780	0	0
FGF5	2250	broad.mit.edu	37	4	81188066	81188066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:81188066G>A	ENST00000456523.3	+	1	274	c.88G>A	c.(88-90)Ggg>Agg	p.G30R	FGF5_ENST00000312465.7_Missense_Mutation_p.G30R	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	30					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CGCCCCCAAAGGGCAACCCGG	0.622000													17	14					0	0	0.000958	0	0
IL1RN	3557	broad.mit.edu	37	2	113885270	113885270	+	Silent	SNP	G	G	A	rs2232353		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:113885270G>A	ENST00000259206.5	+	3	200	c.78G>A	c.(76-78)acG>acA	p.T26T	IL1RN_ENST00000361779.3_5'UTR|IL1RN_ENST00000354115.2_Silent_p.T5T|IL1RN_ENST00000409930.3_Silent_p.T23T|IL1RN_ENST00000409052.1_5'UTR	NM_173841.2	NP_776213.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	23					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	ATTCAGAGACGATCTGCCGAC	0.542000									Lichen Sclerosis et Atrophicus, Familial Clustering of				18	22					0	0	0.001882	0	0
ZNF470	388566	broad.mit.edu	37	19	57088184	57088184	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:57088184C>T	ENST00000330619.8	+	6	1073	c.387C>T	c.(385-387)gaC>gaT	p.D129D	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Silent_p.D129D	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AAAGCTATGACCTTGAATGTT	0.383000													31	45					0	0	0.001512	0	0
AOAH	313	broad.mit.edu	37	7	36677516	36677516	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:36677516C>T	ENST00000431169.1	-	5	691	c.390_splice	c.e5-1	p.E131_splice	AOAH_ENST00000258749.5_Splice_Site_p.E131_splice|AOAH_ENST00000535891.1_Splice_Site_p.E99_splice	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	131					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTCCATGTCTCCTATAAAAAC	0.348000													12	29					0	0	0.000978	0	0
ARNT	405	broad.mit.edu	37	1	150795777	150795777	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:150795777G>A	ENST00000358595.5	-	14	1487	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	ARNT_ENST00000354396.2_Silent_p.F429F|ARNT_ENST00000505755.1_Silent_p.F414F|ARNT_ENST00000515192.1_Silent_p.F415F	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	429	PAC.				positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTTAGACCGGAACCGGAACA	0.398000			T	ETV6	AML								65	47					0	0	0.003610	0	0
KLHL18	23276	broad.mit.edu	37	3	47385128	47385128	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:47385128C>T	ENST00000232766.5	+	10	1442	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	KLHL18_ENST00000455924.2_Silent_p.S362S	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	474										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GAGCCGCCTCCCTGGGGAGCA	0.617000													13	30					0	0	0.001368	0	0
SLC6A15	55117	broad.mit.edu	37	12	85264263	85264263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:85264263G>A	ENST00000266682.5	-	9	2030	c.1489C>T	c.(1489-1491)Ctt>Ttt	p.L497F	SLC6A15_ENST00000552192.1_Missense_Mutation_p.L390F|SLC6A15_ENST00000309283.7_Missense_Mutation_p.L205F	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	497					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCACCAGTAAGAATTTCTTTC	0.368000													24	22					0	0	0.004656	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659852	74659852	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:74659852C>T	ENST00000268053.6	-	1	229	c.75G>A	c.(73-75)gaG>gaA	p.E25E	CYP11A1_ENST00000541301.1_Silent_p.E25E|CYP11A1_ENST00000467407.1_5'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	25					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCCCCAGCCCCTCCCTGGGGG	0.642000													13	21					0	0	0.002450	0	0
COL9A1	1297	broad.mit.edu	37	6	70964860	70964860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:70964860C>T	ENST00000357250.6	-	23	1762	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G292E|COL9A1_ENST00000370499.4_Missense_Mutation_p.G292E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	535	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TACCGTGTCTCCTTTGGGCCC	0.423000													65	80					0	0	0.003610	0	0
LRTM1	57408	broad.mit.edu	37	3	54958979	54958979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:54958979G>A	ENST00000273286.5	-	2	433	c.271C>T	c.(271-273)Cct>Tct	p.P91S	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.P15S	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	91						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AAAGCTCCAGGGGCCAGATTT	0.453000													19	24					0	0	0.001216	0	0
STRA6	64220	broad.mit.edu	37	15	74472508	74472508	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:74472508C>T	ENST00000323940.5	-	19	2162	c.1917G>A	c.(1915-1917)tgG>tgA	p.W639*	STRA6_ENST00000395105.4_Nonsense_Mutation_p.W639*|STRA6_ENST00000563965.1_Nonsense_Mutation_p.W678*|STRA6_ENST00000423167.2_Nonsense_Mutation_p.W630*|STRA6_ENST00000535552.1_Nonsense_Mutation_p.W676*|STRA6_ENST00000416286.3_Nonsense_Mutation_p.W631*|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000574278.1_Nonsense_Mutation_p.W654*|STRA6_ENST00000449139.2_Nonsense_Mutation_p.W639*	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	639					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						AGGCCAGACCCCAGCGAGCCC	0.647000													35	73					0	0	0.004289	0	0
OR2B6	26212	broad.mit.edu	37	6	27925214	27925214	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:27925214C>T	ENST00000244623.1	+	1	196	c.196C>T	c.(196-198)Cta>Tta	p.L66L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTACCAATCTATCACTCCT	0.408000													31	46					0	0	0.002445	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322791	79322791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:79322791C>T	ENST00000428286.1	-	8	4522	c.3322G>A	c.(3322-3324)Gaa>Aaa	p.E1108K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E1467K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1467					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTACATTCTTCAGTTTTCTCA	0.433000													48	13					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179587175	179587175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179587175G>A	ENST00000589042.1	-	77	22563	c.22339C>T	c.(22339-22341)Ccc>Tcc	p.P7447S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7130S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6203S|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7130	Ig-like 56.						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)			ACTTGGATGGGTGCAGAGCCA	0.398000													30	56					0	0	0.002096	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175935	207175935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:207175935C>T	ENST00000374423.3	+	5	7069	c.6683C>T	c.(6682-6684)tCg>tTg	p.S2228L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2228							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGTATATTTCGAAATACTCT	0.358000													17	20					0	0	0.006122	0	0
KRT39	390792	broad.mit.edu	37	17	39122948	39122948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39122948G>A	ENST00000355612.2	-	1	196	c.161C>T	c.(160-162)cCc>cTc	p.P54L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	54	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGGTCCCAGGGAATTCTGAG	0.507000													149	26					0	0	0.003610	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614848	175614848	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:175614848G>A	ENST00000348749.5	-	7	905	c.828C>T	c.(826-828)ttC>ttT	p.F276F	AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Silent_p.F301F|CHRNA1_ENST00000409219.1_Silent_p.F276F|CHRNA1_ENST00000409542.1_Silent_p.F194F	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	301					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TGACCAGAAGGAACACAGTCA	0.458000													13	23					0	0	0.001368	0	0
GRIK4	2900	broad.mit.edu	37	11	120856867	120856867	+	Silent	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:120856867C>G	ENST00000527524.2	+	21	3056	c.2769C>G	c.(2767-2769)ccC>ccG	p.P923P	GRIK4_ENST00000438375.2_Silent_p.P923P			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	923					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GCGTCTGCCCCGAGTGCCGCC	0.741000													3	9					0	0	0.004672	0	0
MBD6	114785	broad.mit.edu	37	12	57919882	57919882	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57919882A>G	ENST00000355673.3	+	6	1487	c.1131A>G	c.(1129-1131)gaA>gaG	p.E377E	MBD6_ENST00000431731.2_Silent_p.E377E	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	377	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GATTGCTAGAAGGGAGAGGCC	0.622000													10	21					0	0	0.000673	0	0
LTF	4057	broad.mit.edu	37	3	46491348	46491348	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46491348C>T	ENST00000231751.4	-	8	1348	c.1053G>A	c.(1051-1053)agG>agA	p.R351R	LTF_ENST00000417439.1_Silent_p.R351R|LTF_ENST00000426532.2_Silent_p.R307R	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	351	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ACTCACTTTTCCTCAAGTTCT	0.567000													10	13					0	0	0.000978	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120903	38120903	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:38120903C>T	ENST00000406386.3	+	7	2595	c.2340C>T	c.(2338-2340)acC>acT	p.T780T	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	780					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ATCCCAGGACCTCCTCTCCCA	0.572000													10	20					0	0	0.000673	0	0
CHST15	51363	broad.mit.edu	37	10	125805437	125805437	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:125805437G>A	ENST00000346248.5	-	2	934	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	CHST15_ENST00000435907.1_Missense_Mutation_p.L98F|CHST15_ENST00000421115.1_Missense_Mutation_p.L98F	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	98					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GCCCCAGAAAGGATGTAAGAA	0.493000													29	46					0	0	0.001512	0	0
EVPL	2125	broad.mit.edu	37	17	74006213	74006213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:74006213C>T	ENST00000301607.3	-	22	3326	c.3073G>A	c.(3073-3075)Gac>Aac	p.D1025N	EVPL_ENST00000586740.1_Missense_Mutation_p.D1047N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1025	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCCGGGGTCCCTCTCCACC	0.642000													48	14					0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197396898	197396898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:197396898G>A	ENST00000367397.1	+	3	1444	c.586G>A	c.(586-588)Gga>Aga	p.G196R	CRB1_ENST00000535699.1_Missense_Mutation_p.G746R|CRB1_ENST00000367400.3_Missense_Mutation_p.G815R|CRB1_ENST00000367399.2_Missense_Mutation_p.G703R|CRB1_ENST00000544212.1_Missense_Mutation_p.G296R|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	815	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G815K(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAAAACCTAGGATTTATTTC	0.348000													13	28					0	0	0.001855	0	0
RCAN2	10231	broad.mit.edu	37	6	46190958	46190958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46190958C>T	ENST00000371374.1	-	5	843	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	RCAN2_ENST00000405162.1_Missense_Mutation_p.E218K|RCAN2_ENST00000306764.7_Missense_Mutation_p.E218K|RCAN2_ENST00000330430.6_Missense_Mutation_p.E172K	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	172					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGGTCCTCTTCTTCCTCTATG	0.537000													61	97					0	0	0.003610	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23059372	23059372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:23059372C>T	ENST00000221132.3	-	4	642	c.578G>A	c.(577-579)gGa>gAa	p.G193E		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	193					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CCGGAAAGTTCCTGGTTTGCA	0.517000													37	11					0	0	0.003610	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561747	44561747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:44561747G>A	ENST00000289547.4	-	11	2787	c.2732C>T	c.(2731-2733)tCc>tTc	p.S911F	NPC1L1_ENST00000546276.1_Missense_Mutation_p.S865F|NPC1L1_ENST00000381160.3_Missense_Mutation_p.S911F	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	911					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCCTCGCTGGAGAAGTTGTA	0.537000													7	14					0	0	0.001984	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559022	129559022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:129559022C>T	ENST00000422113.2	-	9	3024	c.2698G>A	c.(2698-2700)Gaa>Aaa	p.E900K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E438K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	900						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)		CCATCCATTTCCCCATTGCTT	0.522000													16	31					0	0	0.004007	0	0
EPHB3	2049	broad.mit.edu	37	3	184297596	184297596	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:184297596G>A	ENST00000330394.2	+	11	2498	c.2046G>A	c.(2044-2046)gaG>gaA	p.E682E	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	682	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCCTAAGCGAGGCCTCCATCA	0.567000													22	25					0	0	0.002299	0	0
LINGO3	645191	broad.mit.edu	37	19	2290660	2290660	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:2290660G>A	ENST00000585527.1	-	1	1363	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	LINGO3_ENST00000404279.1_Silent_p.F372F			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	372	LRRCT.					integral to membrane				lung(1)|urinary_tract(1)	2						GCCGCCCGTCGAAGTTGAGGG	0.692000													7	5					0	0	0.001984	0	0
ACSM5	54988	broad.mit.edu	37	16	20442628	20442628	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:20442628C>T	ENST00000331849.4	+	10	1440	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	431					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCTTCTGTTTCTTCAATTGCT	0.473000													47	77					0	0	0.003610	0	0
KIAA0586	9786	broad.mit.edu	37	14	59014655	59014655	+	Silent	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:59014655G>T	ENST00000354386.6	+	34	5140	c.4896G>T	c.(4894-4896)ggG>ggT	p.G1632G	KIAA0586_ENST00000556134.1_3'UTR|KIAA0586_ENST00000261244.5_3'UTR|KIAA0586_ENST00000423743.3_3'UTR	NM_001244189.1	NP_001231118.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	0										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTGAACGGGAAGAGACAGC	0.483000													42	7					1.46156e-29	2.75427e-29	0.003610	1	0
DHX34	9704	broad.mit.edu	37	19	47885322	47885322	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:47885322C>T	ENST00000328771.4	+	17	3733	c.3384C>T	c.(3382-3384)ttC>ttT	p.F1128F		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1128						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAAGGACTTCCTCTTTACAC	0.642000													19	24					0	0	0.002299	0	0
OR6C2	341416	broad.mit.edu	37	12	55846192	55846192	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55846192C>T	ENST00000322678.1	+	1	195	c.195C>T	c.(193-195)tcC>tcT	p.S65S	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAAATTTTTCCTTCTTAGAAG	0.398000													33	50					0	0	0.003271	0	0
DOCK3	1795	broad.mit.edu	37	3	51266196	51266196	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:51266196C>T	ENST00000266037.9	+	18	1775	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	584	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCCTCATCTTCCAGCGCAGCA	0.507000													20	33					0	0	0.000958	0	0
MCM5	4174	broad.mit.edu	37	22	35808531	35808531	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:35808531C>T	ENST00000216122.4	+	8	1102	c.948C>T	c.(946-948)ccC>ccT	p.P316P	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Silent_p.P273P	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	316					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						CCGTGAGCCCCCAGGAGGAGG	0.617000													37	47					0	0	0.001706	0	0
FNBP1L	54874	broad.mit.edu	37	1	93987662	93987662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:93987662C>T	ENST00000260506.8	+	3	315	c.164C>T	c.(163-165)cCc>cTc	p.P55L	FNBP1L_ENST00000370253.2_Missense_Mutation_p.P55L|FNBP1L_ENST00000271234.7_Missense_Mutation_p.P55L|FNBP1L_ENST00000370256.4_Missense_Mutation_p.P55L|FNBP1L_ENST00000604705.1_Missense_Mutation_p.P55L	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	55	FCH.|Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AAGTACTGCCCCAAACGTTCA	0.244000													5	9					0	0	0.001984	0	0
SCN10A	6336	broad.mit.edu	37	3	38768433	38768433	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38768433G>A	ENST00000449082.2	-	16	2750	c.2751C>T	c.(2749-2751)atC>atT	p.I917I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	917					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAAAGACCTGGATCCGTGCCA	0.582000													39	59					0	0	0.002222	0	0
PPM1G	5496	broad.mit.edu	37	2	27606282	27606282	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:27606282G>A	ENST00000344034.4	-	7	1416	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	PPM1G_ENST00000350803.4_Silent_p.V384V	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	384					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CATCCATGGTGACCTTGCCAC	0.512000													38	72					0	0	0.003214	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140922487	140922487	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:140922487C>T	ENST00000389328.4	-	20	3176	c.3162G>A	c.(3160-3162)gaG>gaA	p.E1054E	TRAPPC9_ENST00000438773.2_Silent_p.E956E|TRAPPC9_ENST00000389327.3_Silent_p.E947E	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	956					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATTGCCCCTTCTCCCCAGGGG	0.532000													20	49					0	0	0.001882	0	0
SPESP1	246777	broad.mit.edu	37	15	69238249	69238249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:69238249C>T	ENST00000310673.3	+	2	530	c.376C>T	c.(376-378)Cca>Tca	p.P126S	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	126					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GTCGATCAAACCAAACAATGT	0.448000													17	13					0	0	0.004990	0	0
PARN	5073	broad.mit.edu	37	16	14704660	14704660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:14704660G>A	ENST00000437198.2	-	7	536	c.395C>T	c.(394-396)cCa>cTa	p.P132L	PARN_ENST00000420015.2_Missense_Mutation_p.P86L|PARN_ENST00000566021.1_5'UTR|PARN_ENST00000539279.1_Intron|PARN_ENST00000341484.7_Missense_Mutation_p.P71L	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	132					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						ATTTAAATATGGAATTCCTAA	0.348000													22	55					0	0	0.003330	0	0
FAT3	120114	broad.mit.edu	37	11	92534972	92534972	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92534972G>A	ENST00000298047.6	+	9	8810	c.8793G>A	c.(8791-8793)ggG>ggA	p.G2931G	FAT3_ENST00000409404.2_Silent_p.G2931G|FAT3_ENST00000525166.1_Silent_p.G2781G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2931	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTACCGAGGGAATGTGAAGG	0.537000										TCGA Ovarian(4;0.039)			146	258					0	0	0.003610	0	0
C2orf71	388939	broad.mit.edu	37	2	29295461	29295461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29295461G>A	ENST00000331664.5	-	1	1666	c.1667C>T	c.(1666-1668)cCt>cTt	p.P556L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	556					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACAGGGCACAGGGACAAACTT	0.597000													14	34					0	0	0.003163	0	0
NRXN3	9369	broad.mit.edu	37	14	79423658	79423658	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:79423658G>A	ENST00000554719.1	+	8	1721	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	NRXN3_ENST00000335750.5_Silent_p.R410R	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	180					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGGTGGTGCGGAGAGGAAAAA	0.488000													71	18					0	0	0.003610	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394418	138394418	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:138394418G>A	ENST00000310018.2	-	21	2662	c.2380C>T	c.(2380-2382)Ctg>Ttg	p.L794L	ATP6V0A4_ENST00000353492.4_Silent_p.L794L|ATP6V0A4_ENST00000393054.1_Silent_p.L794L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	794					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCCATGATCAGAAGGATGGCT	0.537000													56	120					0	0	0.003610	0	0
OR2T10	127069	broad.mit.edu	37	1	248756281	248756281	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248756281G>A	ENST00000330500.2	-	1	819	c.789C>T	c.(787-789)agC>agT	p.S263S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTGGTAGGAGCTGGGGAGCA	0.448000													12	27					0	0	0.000978	0	0
IFT122	55764	broad.mit.edu	37	3	129200535	129200535	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:129200535C>T	ENST00000296266.3	+	15	1996	c.1804C>T	c.(1804-1806)Cag>Tag	p.Q602*	IFT122_ENST00000507564.1_Nonsense_Mutation_p.Q543*|IFT122_ENST00000347300.2_Nonsense_Mutation_p.Q492*|IFT122_ENST00000440957.2_Nonsense_Mutation_p.Q342*|IFT122_ENST00000348417.2_Nonsense_Mutation_p.Q551*|IFT122_ENST00000504021.1_Nonsense_Mutation_p.Q445*|IFT122_ENST00000431818.2_Nonsense_Mutation_p.Q401*|IFT122_ENST00000349441.2_Nonsense_Mutation_p.Q440*	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	551					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCTGCTTTTTCAGGTGAAGTC	0.562000													12	28					0	0	0.004007	0	0
SNCB	6620	broad.mit.edu	37	5	176053500	176053500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176053500C>T	ENST00000310112.3	-	5	431	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	SNCB_ENST00000393693.2_Missense_Mutation_p.E61K|SNCB_ENST00000510387.1_Missense_Mutation_p.E61K|SNCB_ENST00000506696.1_Missense_Mutation_p.E61K	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	61	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGCCTGTTCCTTGGTTTTT	0.582000													14	7					0	0	0.002450	0	0
CCDC83	220047	broad.mit.edu	37	11	85593607	85593607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:85593607G>A	ENST00000280245.4	+	4	744	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	CCDC83_ENST00000342404.3_Missense_Mutation_p.E78K|CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Missense_Mutation_p.E35K	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	78										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TCTACTAAAGGAACTGAGTGA	0.393000													27	48					0	0	0.001061	0	0
AIFM3	150209	broad.mit.edu	37	22	21329051	21329051	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:21329051C>T	ENST00000399167.2	+	8	906	c.666C>T	c.(664-666)atC>atT	p.I222I	AIFM3_ENST00000399163.2_Silent_p.I222I|AIFM3_ENST00000440238.2_Silent_p.I222I|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000333607.6_Silent_p.I222I|AIFM3_ENST00000335375.5_Silent_p.I210I|AIFM3_ENST00000405089.1_Silent_p.I228I	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCGACCGGATCGTCCTGTGCA	0.652000													15	25					0	0	0.000958	0	0
MYOF	26509	broad.mit.edu	37	10	95129435	95129435	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95129435G>A	ENST00000371501.4	-	25	2678	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	MYOF_ENST00000359263.4_Silent_p.F852F|MYOF_ENST00000358334.5_Silent_p.F839F|MYOF_ENST00000371502.4_Silent_p.F852F			Q9NZM1	MYOF_HUMAN	myoferlin	852					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTCCTTCTGCGAAGCTGTTAA	0.453000													14	29					0	0	0.000958	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332311	100332311	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:100332311G>A	ENST00000341853.1	-	0	1880					NR_003260.1																						AGGTCATGGAGAAGCTGGAGG	0.627000													26	53					0	0	0.004656	0	0
MEFV	4210	broad.mit.edu	37	16	3306475	3306475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3306475G>A	ENST00000219596.1	-	1	152	c.113C>T	c.(112-114)tCc>tTc	p.S38F	MEFV_ENST00000541159.1_Missense_Mutation_p.S38F|MEFV_ENST00000536379.1_Missense_Mutation_p.S38F|MEFV_ENST00000339854.4_Missense_Mutation_p.S38F	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	38	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGGGATCCTGGAGTGCTCCTT	0.587000													35	47					0	0	0.002445	0	0
PREX2	80243	broad.mit.edu	37	8	69069575	69069575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:69069575G>A	ENST00000288368.4	+	35	4527	c.4250G>A	c.(4249-4251)gGa>gAa	p.G1417E		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1417					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCATGGAAGGATATTATTAC	0.343000													22	19					0	0	0.002299	0	0
FAM179A	165186	broad.mit.edu	37	2	29255833	29255833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29255833G>A	ENST00000379558.4	+	15	2397	c.2046G>A	c.(2044-2046)atG>atA	p.M682I	FAM179A_ENST00000403861.2_Missense_Mutation_p.M627I|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	682							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATATCTTGATGGCGAACACTA	0.443000													10	18					0	0	0.001368	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208693162	208693162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:208693162G>A	ENST00000427836.2	-	8	2656	c.2167C>T	c.(2167-2169)Ccg>Tcg	p.P723S		NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	723					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACACACCTCGGGCAGGGGACA	0.507000													13	34					0	0	0.001855	0	0
NTN4	59277	broad.mit.edu	37	12	96063854	96063854	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:96063854C>T	ENST00000343702.4	-	8	2027	c.1579_splice	c.e8+1	p.V527_splice	PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000344911.4_Splice_Site_p.V490_splice|NTN4_ENST00000538383.1_Splice_Site_p.V490_splice|NTN4_ENST00000553059.1_Intron	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	527	NTR.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCAGACTCACCATATGAATAT	0.348000													7	23					0	0	0.000443	0	0
COL2A1	1280	broad.mit.edu	37	12	48377917	48377917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:48377917G>A	ENST00000380518.3	-	29	2058	c.1894C>T	c.(1894-1896)Cct>Tct	p.P632S	COL2A1_ENST00000337299.6_Missense_Mutation_p.P563S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	632	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTTTGCCAGGAAGACCCTAG	0.582000													9	14					0	0	0.000673	0	0
APOB	338	broad.mit.edu	37	2	21231943	21231943	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:21231943G>A	ENST00000233242.1	-	26	7924	c.7797C>T	c.(7795-7797)gcC>gcT	p.A2599A		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2599					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGACTTCAAAGGCAGGCATGG	0.433000													190	309					0	0	0.003610	0	0
CYP3A5	1577	broad.mit.edu	37	7	99273832	99273832	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99273832C>T	ENST00000343703.5	-	3	428		c.e3-1		CYP3A5_ENST00000480723.1_Splice_Site|CYP3A5_ENST00000222982.4_Splice_Site|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Splice_Site					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GGTCCCATATCTACAAAGTGA	0.463000													33	22					0	0	0.002836	0	0
HELZ2	85441	broad.mit.edu	37	20	62196571	62196571	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62196571G>A	ENST00000467148.1	-	8	3673	c.3604C>T	c.(3604-3606)Ctg>Ttg	p.L1202L	HELZ2_ENST00000427522.2_Silent_p.L633L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		ACAAACGCCAGCTCGTGCCTC	0.657000													12	7					0	0	0.001855	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020219	55020219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:55020219G>A	ENST00000324000.3	+	1	2176	c.142G>A	c.(142-144)Ggg>Agg	p.G48R		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	48					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CGCCAGCCCGGGGGCGCCCCG	0.582000													9	22					0	0	0.001368	0	0
EP400	57634	broad.mit.edu	37	12	132510207	132510207	+	Silent	SNP	C	C	T	rs142800597		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:132510207C>T	ENST00000333577.4	+	26	5089	c.4980C>T	c.(4978-4980)atC>atT	p.I1660I	EP400_ENST00000389561.2_Silent_p.I1624I|EP400_ENST00000332482.4_Silent_p.I1587I|EP400_ENST00000389562.2_Silent_p.I1623I|EP400_ENST00000330386.6_Silent_p.I1543I			Q96L91	EP400_HUMAN	E1A binding protein p400	1660					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCTCCAGATCGTGTCCGCCC	0.612000													11	18					0	0	0.001368	0	0
CIB3	117286	broad.mit.edu	37	19	16278981	16278981	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:16278981C>T	ENST00000269878.4	-	4	362	c.313G>A	c.(313-315)Gac>Aac	p.D105N	CIB3_ENST00000541493.1_Intron|CIB3_ENST00000379859.3_Missense_Mutation_p.D56N	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	105	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GCCTTGAGGTCGCGGGGAGCC	0.552000													9	9					0	0	0.000443	0	0
DAPK3	1613	broad.mit.edu	37	19	3964704	3964704	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3964704G>A	ENST00000545797.2	-	3	591	c.348C>T	c.(346-348)gcC>gcT	p.A116A	DAPK3_ENST00000301264.3_Silent_p.A116A			O43293	DAPK3_HUMAN	death-associated protein kinase 3	116	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACTGGGTGGCCTCGTCCT	0.607000													19	61					0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179595882	179595882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179595882C>T	ENST00000589042.1	-	60	17734	c.17510G>A	c.(17509-17511)gGa>gAa	p.G5837E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5520E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4593E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5520	Ig-like 39.						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)			GGCTGGGTCTCCTTGGGTGAC	0.448000													68	97					0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166894560	166894560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166894560C>T	ENST00000423058.2	-	15	2689	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.G863E|SCN1A_ENST00000375405.3_Missense_Mutation_p.G880E|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.G891E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	891						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G880E(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTAAATTTCCCAGAGCCCC	0.443000													15	39					0	0	0.000958	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979461	68979461	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:68979461G>A	ENST00000433211.1	-	6	921	c.747C>T	c.(745-747)ctC>ctT	p.L249L	CTNNA3_ENST00000545309.1_Silent_p.L249L|CTNNA3_ENST00000373744.4_Silent_p.L249L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	249					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AAATTACATTGAGAGCATTCT	0.453000													62	88					0	0	0.003610	0	0
DOK3	79930	broad.mit.edu	37	5	176931477	176931477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176931477G>A	ENST00000501403.2	-	6	1179	c.830C>T	c.(829-831)tCc>tTc	p.S277F	DOK3_ENST00000312943.6_Intron|DOK3_ENST00000357198.4_Missense_Mutation_p.S333F|DOK3_ENST00000377112.4_Intron			Q7L591	DOK3_HUMAN	docking protein 3	333	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GGTGTCCAGGGAGGGCAGAGA	0.731000													8	0					0	0	0.000673	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232356	1232356	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:1232356C>T	ENST00000324642.3	+	2	306	c.183C>T	c.(181-183)gtC>gtT	p.V61V	SLC6A18_ENST00000296821.4_Silent_p.V61V	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	61					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCCCTACGTCATCGCGCTGG	0.706000													5	13					0	0	0.001168	0	0
SERPINB4	6318	broad.mit.edu	37	18	61304963	61304963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61304963G>A	ENST00000341074.5	-	8	1278	c.1163C>T	c.(1162-1164)tCa>tTa	p.S388L	SERPINB4_ENST00000356424.6_Missense_Mutation_p.S336L	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CTATGGGGATGAGAATCTGCC	0.403000													44	79					0	0	0.003610	0	0
ZNF574	64763	broad.mit.edu	37	19	42583793	42583793	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:42583793C>T	ENST00000600245.1	+	2	1690	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	ZNF574_ENST00000359044.4_Silent_p.F345F|ZNF574_ENST00000222339.7_Silent_p.F435F|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GTCGTGTCTTCCCTAGCCCTT	0.612000													28	39					0	0	0.001061	0	0
PRKCG	5582	broad.mit.edu	37	19	54394961	54394961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54394961C>T	ENST00000263431.3	+	6	845	c.563C>T	c.(562-564)cCc>cTc	p.P188L	PRKCG_ENST00000542049.1_Missense_Mutation_p.P75L|PRKCG_ENST00000540413.1_Missense_Mutation_p.P188L|PRKCG_ENST00000536044.1_Missense_Mutation_p.P188L	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	188	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCTATGGACCCCAATGGTCTC	0.552000													33	72					0	0	0.002522	0	0
HSP90B1	7184	broad.mit.edu	37	12	104327797	104327797	+	Silent	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:104327797T>C	ENST00000299767.5	+	5	657	c.475T>C	c.(475-477)Ttg>Ctg	p.L159L		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	159					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CAGAGAAGAGTTGGTTAAAAA	0.408000													28	44					0	0	0.001786	0	0
AGL	178	broad.mit.edu	37	1	100318230	100318230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:100318230C>T	ENST00000361302.3	+	2	264	c.5C>T	c.(4-6)gCc>gTc	p.A2V	AGL_ENST00000370163.3_Intron|AGL_ENST00000370165.3_Intron|AGL_ENST00000361915.3_Intron|AGL_ENST00000370161.2_Missense_Mutation_p.A2V|AGL_ENST00000294724.4_Intron	NM_000646.2	NP_000637.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	0					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ccgggcatggccccaattctg	0.408000													12	6					0	0	0.002450	0	0
TMEM67	91147	broad.mit.edu	37	8	94767232	94767232	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:94767232C>T	ENST00000453321.3	+	1	148	c.90C>T	c.(88-90)ctC>ctT	p.L30L	TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	30					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TGTTGTTCCTCCCTCGCTTCT	0.607000													63	49					0	0	0.003610	0	0
LPHN2	23266	broad.mit.edu	37	1	82417794	82417794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:82417794G>A	ENST00000370728.1	+	11	2395	c.1750G>A	c.(1750-1752)Gaa>Aaa	p.E584K	LPHN2_ENST00000370721.1_Missense_Mutation_p.E522K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Missense_Mutation_p.E584K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E584K|LPHN2_ENST00000370727.1_Missense_Mutation_p.E584K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E584K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E584K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E584K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E584K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E584K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E584K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E584K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E584K|LPHN2_ENST00000370730.1_Missense_Mutation_p.E584K			O95490	LPHN2_HUMAN	latrophilin 2	584					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GAAACCTAGTGAAAAAGATTC	0.433000													23	25					0	0	0.003954	0	0
OR14J1	442191	broad.mit.edu	37	6	29275263	29275263	+	Missense_Mutation	SNP	C	C	T	rs139773321		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29275263C>T	ENST00000377160.2	+	1	861	c.797C>T	c.(796-798)tCg>tTg	p.S266L		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S266*(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GATTCCTCATCGACTGTGGAC	0.458000													49	68					0	0	0.003610	0	0
CD244	51744	broad.mit.edu	37	1	160811109	160811109	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160811109C>T	ENST00000368034.4	-	3	723	c.546G>A	c.(544-546)gaG>gaA	p.E182E	CD244_ENST00000322302.7_Intron|CD244_ENST00000368033.3_Silent_p.E187E|CD244_ENST00000368032.2_Silent_p.E182E	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	187	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGTCAACCTCCTCGTCCAGGT	0.512000													73	65					0	0	0.003610	0	0
ANO5	203859	broad.mit.edu	37	11	22301201	22301201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:22301201G>A	ENST00000324559.8	+	22	2949	c.2632G>A	c.(2632-2634)Gat>Aat	p.D878N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	878						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATTCTCCATGATTTTGAGCT	0.348000													29	42					0	0	0.001271	0	0
ZNF883	169834	broad.mit.edu	37	9	115760185	115760185	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:115760185G>A	ENST00000427548.1	-	0	1628							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCTCCAGTATGGATTCTCTCA	0.388000													29	5					0	0	0.001061	0	0
COL14A1	7373	broad.mit.edu	37	8	121262996	121262996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121262996G>A	ENST00000297848.3	+	22	3013	c.2743G>A	c.(2743-2745)Gtg>Atg	p.V915M	COL14A1_ENST00000309791.4_Missense_Mutation_p.V915M|COL14A1_ENST00000247781.3_Missense_Mutation_p.V820M|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	915	Fibronectin type-III 7.				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)			GACAGGCATGGTGAAAACATG	0.493000													33	19					0	0	0.003755	0	0
PCDH18	54510	broad.mit.edu	37	4	138451923	138451923	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:138451923C>T	ENST00000344876.4	-	1	1706	c.1320G>A	c.(1318-1320)agG>agA	p.R440R	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.R220R|PCDH18_ENST00000412923.2_Silent_p.R440R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	440	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGGTGTCCCCCTGTCCTCAG	0.373000													40	55					0	0	0.001287	0	0
BEST4	266675	broad.mit.edu	37	1	45250386	45250386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:45250386C>T	ENST00000372207.3	-	8	1062	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	355						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GGCTGGTCCTCATCCCAGTAC	0.622000													32	39					0	0	0.002836	0	0
HEATR3	55027	broad.mit.edu	37	16	50100334	50100334	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:50100334G>A	ENST00000299192.7	+	2	386	c.195G>A	c.(193-195)ctG>ctA	p.L65L	HEATR3_ENST00000285767.4_Intron	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	65							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TGGCCCGGCTGGTGCAGCAGC	0.741000													9	7					0	0	0.000443	0	0
C6	729	broad.mit.edu	37	5	41181500	41181500	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41181500A>T	ENST00000263413.3	-	7	1152	c.888T>A	c.(886-888)aaT>aaA	p.N296K	C6_ENST00000337836.5_Missense_Mutation_p.N296K|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	296	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGAAGGCAGAATTATGGTTGA	0.348000													52	81					0	0	0.003610	0	0
NPR1	4881	broad.mit.edu	37	1	153665843	153665843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:153665843C>T	ENST00000368680.3	+	22	3611	c.3139C>T	c.(3139-3141)Cgg>Tgg	p.R1047W		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	1047					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGGCAAGGTTCGGACCTACTG	0.597000													42	40					0	0	0.003610	0	0
OXCT2	64064	broad.mit.edu	37	1	40235396	40235396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:40235396G>A	ENST00000327582.5	-	1	1624	c.1532C>T	c.(1531-1533)cCc>cTc	p.P511L	BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron	NM_022120.1	NP_071403.1	Q9BYC2	SCOT2_HUMAN	3-oxoacid CoA transferase 2	511					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	CTGCTGCATGGGCCTGAGGTT	0.647000													4	23					0	0	0.000602	0	0
GNAZ	2781	broad.mit.edu	37	22	23465505	23465505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:23465505G>A	ENST00000248996.4	+	3	1621	c.955G>A	c.(955-957)Gag>Aag	p.E319K	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	319						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GGAGACCAAGGAGATCTACTC	0.527000													14	12					0	0	0.003163	0	0
IGKV1D-17	28900	broad.mit.edu	37	2	90122085	90122085	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:90122085G>A	ENST00000483379.1	+	0	484																											GCAGCCTGCAGCCTGAAGATT	0.483000													19	45					0	0	0.004878	0	0
IL2RB	3560	broad.mit.edu	37	22	37524378	37524378	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37524378G>A	ENST00000216223.5	-	10	1612	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	472					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGAGGCCCCAGGGGCTGGGGG	0.682000													11	15					0	0	0.000673	0	0
POTEE	445582	broad.mit.edu	37	2	132021552	132021552	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:132021552C>T	ENST00000356920.5	+	15	2618	c.2524C>T	c.(2524-2526)Ctg>Ttg	p.L842L	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	842	Actin-like.						ATP binding										CGTGCCGTCCCTGTACACCTC	0.607000													42	89					0	0	0.003610	0	0
OR9K2	441639	broad.mit.edu	37	12	55524229	55524229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55524229C>T	ENST00000305377.5	+	1	765	c.677C>T	c.(676-678)tCc>tTc	p.S226F		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATATCTTTTTCCTTATCATGT	0.363000													29	25					0	0	0.001061	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713098	138713098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:138713098G>A	ENST00000389532.4	-	11	3473	c.3409C>T	c.(3409-3411)Cct>Tct	p.P1137S	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1148S|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P859S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1137						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGCTGGCAGGGAAGGGTCTC	0.637000													54	13					0	0	0.003610	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55324584	55324584	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55324584C>T	ENST00000396284.2	+	6	705	c.705C>T	c.(703-705)atC>atT	p.I235I	KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000359085.4_Silent_p.I237I|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396293.1_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTCCAGGTATCGCCAGACACC	0.458000													39	5					0	0	0.001706	0	0
ABCC9	10060	broad.mit.edu	37	12	22005388	22005388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:22005388C>T	ENST00000261200.4	-	21	2556	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	ABCC9_ENST00000261201.4_Missense_Mutation_p.E853K|ABCC9_ENST00000345162.2_Missense_Mutation_p.E817K|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	853	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.E853Q(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAATCCCCTCCTGCATTAAA	0.408000													35	40					0	0	0.003755	0	0
TRAV26-2	28656	broad.mit.edu	37	14	22671067	22671067	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22671067C>T	ENST00000390460.1	+	0	132																											ACTCCACAATCAGTGGAACTG	0.458000													11	27					0	0	0.001368	0	0
DCN	1634	broad.mit.edu	37	12	91558384	91558384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:91558384G>A	ENST00000052754.5	-	3	823	c.322C>T	c.(322-324)Cac>Tac	p.H108Y	DCN_ENST00000393155.1_Missense_Mutation_p.H108Y|DCN_ENST00000425043.1_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.H108Y|DCN_ENST00000420120.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Missense_Mutation_p.H108Y|DCN_ENST00000441303.2_Missense_Mutation_p.H108Y	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	108					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTTCTTACGTGAAGGTTCTTC	0.368000													14	27					0	0	0.001855	0	0
FGFR4	2264	broad.mit.edu	37	5	176518729	176518729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176518729C>T	ENST00000292408.4	+	6	892	c.647C>T	c.(646-648)cCc>cTc	p.P216L	FGFR4_ENST00000292410.3_Missense_Mutation_p.P216L|FGFR4_ENST00000393637.1_Missense_Mutation_p.P216L|FGFR4_ENST00000393648.2_Missense_Mutation_p.P216L|FGFR4_ENST00000502906.1_Missense_Mutation_p.P216L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	216	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	AGCGTGGTGCCCTCGGACCGC	0.637000										TSP Lung(9;0.080)			10	3					0	0	0.000673	0	0
OPRK1	4986	broad.mit.edu	37	8	54147659	54147659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:54147659C>T	ENST00000265572.3	-	3	567	c.270G>A	c.(268-270)atG>atA	p.M90I	OPRK1_ENST00000520287.1_Missense_Mutation_p.M90I|OPRK1_ENST00000524278.1_Start_Codon_SNP_p.M1I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	90					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TTGCTGTCTTCATCTTTGTGT	0.373000													45	54					0	0	0.002852	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190993	42190993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:42190993G>A	ENST00000006724.3	-	2	425	c.224C>T	c.(223-225)gCc>gTc	p.A75V	CEACAM7_ENST00000602225.1_Missense_Mutation_p.A75V|CEACAM7_ENST00000338196.4_Missense_Mutation_p.A75V|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.A75V	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	75	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCGATAGTTGGCATGCACCCT	0.458000													53	100					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	8995651	8995651	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8995651C>T	ENST00000397910.4	-	63	41540	c.41337G>A	c.(41335-41337)tcG>tcA	p.S13779S	MUC16_ENST00000380951.5_Silent_p.S420S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13781				Missing (in Ref. 3; AAK74120).	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						GGCCAAATATCGAGGCTGGAG	0.463000													8	14					0	0	0.000443	0	0
ZAN	7455	broad.mit.edu	37	7	100350328	100350328	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100350328C>T	ENST00000542585.1	+	0	2748				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATCTCCCCAGAAAAA	0.488000													34	28					0	0	0.003271	0	0
PLCZ1	89869	broad.mit.edu	37	12	18849175	18849175	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:18849175C>T	ENST00000266505.7	-	11	1463	c.1200G>A	c.(1198-1200)agG>agA	p.R400R	PLCZ1_ENST00000541695.1_Silent_p.R263R|PLCZ1_ENST00000435379.1_Silent_p.R205R|PLCZ1_ENST00000538330.1_Silent_p.R182R|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000539875.1_Silent_p.R207R|PLCZ1_ENST00000447925.2_Silent_p.R398R			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	400	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TAATGAACTTCCTGGTGTGAA	0.274000													13	16					0	0	0.004007	0	0
CEACAM20	125931	broad.mit.edu	37	19	45033510	45033510	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45033510C>T	ENST00000454753.1	-	0	301							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CCAGTGGTGTCCCCATGAGTC	0.592000													88	127					0	0	0.003610	0	0
ZNF486	90649	broad.mit.edu	37	19	20308543	20308543	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:20308543A>C	ENST00000335117.8	+	4	1081	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TAAACATGAGAAGATTCATAC	0.398000													10	17					0	0	0.000673	0	0
ACIN1	22985	broad.mit.edu	37	14	23530347	23530347	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23530347G>A	ENST00000262710.1	-	18	3972	c.3645C>T	c.(3643-3645)ttC>ttT	p.F1215F	ACIN1_ENST00000338631.6_Silent_p.F488F|ACIN1_ENST00000557515.1_Silent_p.F456F|ACIN1_ENST00000555053.1_Silent_p.F1202F|ACIN1_ENST00000605057.1_Silent_p.F1157F|ACIN1_ENST00000457657.1_Silent_p.F1175F|ACIN1_ENST00000397341.3_Silent_p.F457F|ACIN1_ENST00000357481.2_Silent_p.F457F	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1215	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGGTCTTTCGGAAAAGGTCAT	0.547000													44	10					0	0	0.003610	0	0
CNPY1	285888	broad.mit.edu	37	7	155301617	155301617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:155301617G>A	ENST00000321736.5	-	2	278	c.116C>T	c.(115-117)tCt>tTt	p.S39F	CNPY1_ENST00000406197.1_Missense_Mutation_p.S39F	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	39										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTAAGCATCAGAATAAAAATA	0.368000													19	65					0	0	0.001523	0	0
CADM2	253559	broad.mit.edu	37	3	86028388	86028388	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:86028388A>C	ENST00000407528.2	+	8	1080	c.1018A>C	c.(1018-1020)Ata>Cta	p.I340L	CADM2_ENST00000383699.3_Intron|CADM2_ENST00000405615.2_Missense_Mutation_p.I342L	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	340	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CACTGTAGCCATAACAACCAG	0.448000													63	107					0	0	0.003610	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73148898	73148898	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:73148898G>A	ENST00000286657.4	-	22	3609	c.3573C>T	c.(3571-3573)atC>atT	p.I1191I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1191					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTTGTCAATGATCTTTCCAT	0.438000													52	59					0	0	0.003610	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7677134	7677134	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:7677134C>T	ENST00000446248.2	+	13	1937	c.1836C>T	c.(1834-1836)tcC>tcT	p.S612S	CAMSAP3_ENST00000160298.4_Silent_p.S585S	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	585					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GAGCGGGGTCCCCCACGTCCA	0.647000													6	6					0	0	0.001168	0	0
ATP2B1	490	broad.mit.edu	37	12	90018044	90018044	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:90018044G>A	ENST00000428670.3	-	9	1716	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	ATP2B1_ENST00000359142.3_Silent_p.F420F|ATP2B1_ENST00000393164.2_Silent_p.F163F|ATP2B1_ENST00000261173.2_Silent_p.F420F|ATP2B1_ENST00000348959.3_Silent_p.F420F			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	420					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CTCCAATAATGAAGAACTTCA	0.383000													18	33					0	0	0.001216	0	0
COL9A1	1297	broad.mit.edu	37	6	70979353	70979353	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:70979353G>A	ENST00000357250.6	-	16	1371	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.H162Y|COL9A1_ENST00000370499.4_Missense_Mutation_p.H162Y	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	405	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCTCCATCATGAAAGCCAATT	0.299000													26	49					0	0	0.002445	0	0
C11orf35	256329	broad.mit.edu	37	11	558870	558870	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:558870G>A	ENST00000329451.3	-	2	206	c.144C>T	c.(142-144)tgC>tgT	p.C48C	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	48										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCGGCAGAGCAGACCACCG	0.706000													10	22					0	0	0.001368	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918507	51918507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51918507C>T	ENST00000353836.5	-	7	1479	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	SIGLEC10_ENST00000441969.3_Missense_Mutation_p.E362K|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.E420K|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.E337K|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.E420K|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.E330K|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.E372K|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.E272K|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.E362K	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	420	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AACTCTCCTTCGTGCTCCACT	0.667000													24	29					0	0	0.002780	0	0
DLAT	1737	broad.mit.edu	37	11	111914232	111914232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:111914232C>T	ENST00000280346.6	+	8	1831	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F	DLAT_ENST00000393051.1_Missense_Mutation_p.S286F|DLAT_ENST00000537636.1_Missense_Mutation_p.S162F	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	391					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)	GATATCGACTCTTTTGTGCCT	0.388000													48	90					0	0	0.003610	0	0
GAS6	2621	broad.mit.edu	37	13	114535377	114535377	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:114535377G>A	ENST00000357389.3	-	10	1319	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000480426.1_5'UTR|GAS6_ENST00000355761.4_Silent_p.I292I|GAS6_ENST00000418959.3_Silent_p.I47I|GAS6_ENST00000450766.1_Silent_p.I73I|GAS6_ENST00000327773.6_Silent_p.I346I			Q14393	GAS6_HUMAN	growth arrest-specific 6	389	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GGGCCAGCACGATCCAGGTGC	0.657000													13	5					0	0	0.001855	0	0
EXPH5	23086	broad.mit.edu	37	11	108383883	108383883	+	Missense_Mutation	SNP	G	G	T	rs115994428	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:108383883G>T	ENST00000265843.4	-	6	2461	c.2351C>A	c.(2350-2352)cCg>cAg	p.P784Q	EXPH5_ENST00000525344.1_Missense_Mutation_p.P777Q|EXPH5_ENST00000428840.1_Missense_Mutation_p.P708Q|EXPH5_ENST00000443411.1_Missense_Mutation_p.P596Q	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	784					intracellular protein transport		Rab GTPase binding	p.P784L(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ATCTGTGTGCGGTATATACAT	0.383000													6	139					0.00116845	0.00217386	0.001168	1	0
MATN3	4148	broad.mit.edu	37	2	20205941	20205941	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:20205941G>A	ENST00000407540.3	-	2	416	c.354C>T	c.(352-354)gcC>gcT	p.A118A	MATN3_ENST00000421259.2_Silent_p.A118A	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	118	VWFA.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGCGTGTCGGCTGGCCCAA	0.522000													12	6					0	0	0.001368	0	0
KY	339855	broad.mit.edu	37	3	134329145	134329145	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:134329145T>A	ENST00000508956.1	-	8	785	c.728A>T	c.(727-729)gAg>gTg	p.E243V	KY_ENST00000503669.1_Missense_Mutation_p.E264V|KY_ENST00000423778.2_Missense_Mutation_p.E264V			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	264						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						ATGGTCAAACTCCCCCGAGAA	0.622000													17	35					0	0	0.004990	0	0
FSHR	2492	broad.mit.edu	37	2	49190868	49190868	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:49190868G>A	ENST00000406846.2	-	10	1211	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	FSHR_ENST00000541117.1_Silent_p.I100I|FSHR_ENST00000346173.3_Silent_p.I302I|FSHR_ENST00000304421.4_Silent_p.I338I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	364					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGACTCTGAGGATGTTGTACC	0.458000									Gonadal Dysgenesis, 46 XX				23	41					0	0	0.001882	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24505099	24505099	+	Nonsense_Mutation	SNP	G	G	A	rs118203982		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24505099G>A	ENST00000357578.3	+	4	757	c.612G>A	c.(610-612)tgG>tgA	p.W204*	ALDH5A1_ENST00000348925.2_Nonsense_Mutation_p.W204*|ALDH5A1_ENST00000546278.1_Nonsense_Mutation_p.W116*|ALDH5A1_ENST00000491546.1_Nonsense_Mutation_p.W176*	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	204					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	AACCCCAGTGGAATTTCCCCA	0.567000													21	24					0	0	0.003330	0	0
MYCBP2	23077	broad.mit.edu	37	13	77656067	77656067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:77656067G>A	ENST00000407578.2	-	64	11364	c.11098C>T	c.(11098-11100)Cat>Tat	p.H3700Y	MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.H3662Y|MYCBP2_ENST00000544440.2_Missense_Mutation_p.H3662Y|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3662	DOC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTAATGTGATGAAAGACGTTG	0.373000													34	9					0	0	0.002445	0	0
CXorf66	347487	broad.mit.edu	37	X	139038471	139038471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:139038471C>T	ENST00000370540.1	-	3	693	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	224						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGTGAGATTTCATTTTGTGGA	0.443000													67	16					0	0	0.003610	0	0
THSD4	79875	broad.mit.edu	37	15	72037445	72037445	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:72037445G>A	ENST00000355327.3	+	12	2041	c.1906_splice	c.e12-1	p.G636_splice	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Splice_Site_p.G636_splice|THSD4_ENST00000357769.4_Splice_Site_p.G276_splice			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	636						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTTGTTGCAGGATCGCAGTAC	0.547000													116	152					0	0	0.003610	0	0
DSP	1832	broad.mit.edu	37	6	7578768	7578768	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:7578768G>T	ENST00000379802.3	+	22	3398	c.3057G>T	c.(3055-3057)gaG>gaT	p.E1019D	DSP_ENST00000418664.2_Missense_Mutation_p.E1019D	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1019	Globular 1.				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)		TCTTAAGTGAGATGCTGAAGA	0.348000													30	83					7.63505e-26	1.43767e-25	0.002445	1	0
CDH12	1010	broad.mit.edu	37	5	21975487	21975487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:21975487G>A	ENST00000382254.1	-	6	1325	c.239C>T	c.(238-240)tCc>tTc	p.S80F	CDH12_ENST00000504376.2_Missense_Mutation_p.S80F|CDH12_ENST00000522262.1_Missense_Mutation_p.S80F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	80	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTCTAAGTCGGAATGGAGCTT	0.443000										HNSCC(59;0.17)			6	81					0	0	0.001984	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70667774	70667774	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:70667774C>T	ENST00000260126.3	-	4	1849	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	SLCO5A1_ENST00000524945.1_Silent_p.K381K|SLCO5A1_ENST00000530307.1_Silent_p.K381K	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	381	Poly-Lys.					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)			AAAATTTTTTCTTTTTCTTTT	0.378000													20	61					0	0	0.001882	0	0
ENAM	10117	broad.mit.edu	37	4	71500179	71500179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71500179C>T	ENST00000396073.3	+	6	646	c.365C>T	c.(364-366)aCc>aTc	p.T122I		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	122					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACCCAAGAAACCCAGAAACCC	0.517000													24	27					0	0	0.002299	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968612	48968612	+	RNA	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:48968612A>G	ENST00000594520.1	+	0	769																											CTAGCAAAGAAGGGCTTTATT	0.289000													20	26					0	0	0.005443	0	0
CRYGC	1420	broad.mit.edu	37	2	208994171	208994171	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:208994171G>A	ENST00000282141.3	-	2	283	c.246C>T	c.(244-246)atC>atT	p.I82I		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	82	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TCACTTGGGGGATGAGACAAC	0.517000													22	41					0	0	0.002299	0	0
PDZD3	79849	broad.mit.edu	37	11	119056848	119056848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:119056848C>T	ENST00000355547.5	+	3	107	c.92C>T	c.(91-93)tCc>tTc	p.S31F	PDZD3_ENST00000322712.4_Missense_Mutation_p.S31F|PDZD3_ENST00000531114.1_5'UTR|PDZD3_ENST00000525131.1_5'UTR	NM_001168468.1	NP_001161940.1	Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	0					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CCTGTCCTCTCCCTGGCCGAA	0.582000													30	34					0	0	0.001512	0	0
PSG7	5676	broad.mit.edu	37	19	43428923	43428923	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43428923C>T	ENST00000406070.2	-	0	1393					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ctttgaggttccatgggagaa	0.413000													18	54					0	0	0.001882	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754246	6754246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6754246C>T	ENST00000437152.3	-	6	1054	c.922G>A	c.(922-924)Gga>Aga	p.G308R	SH2D3A_ENST00000245908.6_Intron			Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	425					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCCTCCAGTCCCTGCTCCCCA	0.697000													3	6					0	0	0.000248	0	0
IL37	27178	broad.mit.edu	37	2	113675341	113675341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:113675341C>T	ENST00000263326.3	+	4	437	c.395C>T	c.(394-396)tCc>tTc	p.S132F	IL37_ENST00000353225.3_Missense_Mutation_p.S92F|IL37_ENST00000352179.3_Missense_Mutation_p.S111F|IL37_ENST00000311328.2_Missense_Mutation_p.S106F|IL37_ENST00000349806.3_Missense_Mutation_p.S71F	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	132					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AGTCATCCATCCCTTCAGCTG	0.498000													30	38					0	0	0.002445	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099924	142099924	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142099924G>A	ENST00000390359.3	-	0	53																											CCCAGCAGAGGAGCCTGGTGC	0.537000													62	49					0	0	0.003610	0	0
GPR26	2849	broad.mit.edu	37	10	125434415	125434415	+	Silent	SNP	C	C	T	rs148383030		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:125434415C>T	ENST00000284674.1	+	2	803	c.750C>T	c.(748-750)ttC>ttT	p.F250F		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	250					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F250F(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TAGGGACCTTCCTTGTGTGCT	0.567000													13	21					0	0	0.004990	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10418887	10418887	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:10418887G>A	ENST00000403903.3	-	1	1669	c.471C>T	c.(469-471)tcC>tcT	p.S157S	CTD-2369P2.10_ENST00000452032.2_3'UTR|ZGLP1_ENST00000403352.1_Silent_p.S73S|FDX1L_ENST00000541276.1_3'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	157					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						TCTGCAGGCTGGAGTCCGGCT	0.627000													36	36					0	0	0.002522	0	0
PTPRC	5788	broad.mit.edu	37	1	198682180	198682180	+	Missense_Mutation	SNP	C	C	T	rs142046206		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:198682180C>T	ENST00000367376.2	+	12	1435	c.1264C>T	c.(1264-1266)Ctc>Ttc	p.L422F	PTPRC_ENST00000442510.2_Missense_Mutation_p.L424F|PTPRC_ENST00000594404.1_Missense_Mutation_p.L261F|PTPRC_ENST00000352140.3_Missense_Mutation_p.L374F|PTPRC_ENST00000348564.6_Missense_Mutation_p.L263F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	422	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAATTTTACCCTCTGTTATAT	0.333000													34	99					0	0	0.004289	0	0
SBSN	374897	broad.mit.edu	37	19	36018994	36018994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36018994C>T	ENST00000452271.2	-	1	218	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	SBSN_ENST00000518157.1_Missense_Mutation_p.E64K	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	64	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCTCCACTTCCCTTCCGGCA	0.567000													51	77					0	0	0.003610	0	0
CHST6	4166	broad.mit.edu	37	16	75513312	75513312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:75513312G>A	ENST00000332272.4	-	3	594	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	CHST6_ENST00000390664.2_Missense_Mutation_p.P139S|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	139					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCGCCTCGGGGAAAGGCACTG	0.682000													13	32					0	0	0.003163	0	0
DCAF17	80067	broad.mit.edu	37	2	172305290	172305290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:172305290C>T	ENST00000375255.3	+	4	748	c.421C>T	c.(421-423)Ctt>Ttt	p.L141F	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.L141F	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	141						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						GGGAAAAATCCTTGAGAAAAT	0.338000													33	65					0	0	0.003271	0	0
SMARCA5	8467	broad.mit.edu	37	4	144459978	144459978	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:144459978T>A	ENST00000283131.3	+	13	2119	c.1657T>A	c.(1657-1659)Ttt>Att	p.F553I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	553	Helicase C-terminal.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CAGCACAAAGTTTGTTTTCAT	0.383000													43	55					0	0	0.003610	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32549448	32549448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32549448C>T	ENST00000360004.5	-	3	643	c.538G>A	c.(538-540)Gga>Aga	p.G180R		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GTCCAGTCTCCATTCTGGATC	0.552000										Multiple Myeloma(14;0.17)			8	64					0	0	0.002780	0	0
TAL1	6886	broad.mit.edu	37	1	47685395	47685395	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:47685395C>T	ENST00000371883.3	-	4	1575	c.999G>A	c.(997-999)cgG>cgA	p.R333R	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Silent_p.R331R|TAL1_ENST00000371884.2_Silent_p.R331R			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	331					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						AGACCCATCACCGAGGGCCGG	0.682000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								21	24					0	0	0.001061	0	0
ERBB4	2066	broad.mit.edu	37	2	212286772	212286772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:212286772G>A	ENST00000342788.4	-	24	3234	c.2924C>T	c.(2923-2925)tCa>tTa	p.S975L	ERBB4_ENST00000402597.1_Missense_Mutation_p.S965L|ERBB4_ENST00000436443.1_Missense_Mutation_p.S975L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	975	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGCCATCCTTGAAAACTCAGC	0.398000										TSP Lung(8;0.080)			30	39					0	0	0.003755	0	0
HOXC6	3223	broad.mit.edu	37	12	54423580	54423580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:54423580C>T	ENST00000394331.3	+	3	2006	c.296C>T	c.(295-297)aCc>aTc	p.T99I	HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.T181I|HOXC4_ENST00000303406.4_Intron	NM_153693.3	NP_710160.1	P09630	HXC6_HUMAN	homeobox C6	181					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTGCCTGACCGAGCGACAG	0.572000													31	48					0	0	0.004878	0	0
MCM9	254394	broad.mit.edu	37	6	119245183	119245183	+	Silent	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:119245183A>C	ENST00000316316.6	-	3	700	c.414T>G	c.(412-414)gtT>gtG	p.V138V	MCM9_ENST00000316068.3_Silent_p.V138V	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	138					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CAAACTCCAGAACCTTCACCA	0.463000													85	128					0	0	0.003610	0	0
NDRG2	57447	broad.mit.edu	37	14	21486622	21486622	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:21486622G>A	ENST00000556147.1	-	13	1795	c.855C>T	c.(853-855)ttC>ttT	p.F285F	NDRG2_ENST00000403829.3_Silent_p.F281F|NDRG2_ENST00000554104.1_Silent_p.F198F|NDRG2_ENST00000298684.5_Silent_p.F242F|NDRG2_ENST00000360463.3_Silent_p.F271F|NDRG2_ENST00000554143.1_Silent_p.F271F|NDRG2_ENST00000397858.1_Silent_p.F285F|NDRG2_ENST00000397847.2_Silent_p.F274F|NDRG2_ENST00000298687.5_Silent_p.F285F|NDRG2_ENST00000553503.1_Silent_p.F271F|NDRG2_ENST00000397853.3_Silent_p.F285F|NDRG2_ENST00000350792.3_Silent_p.F271F|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000397851.2_Silent_p.F285F|NDRG2_ENST00000397855.3_Silent_p.F242F|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000555158.1_Silent_p.F271F			Q9UN36	NDRG2_HUMAN	NDRG family member 2	285					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGACCTTGAGGAACGAGGTCT	0.577000													19	33					0	0	0.001882	0	0
FMO5	2330	broad.mit.edu	37	1	146658672	146658672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:146658672G>A	ENST00000254090.4	-	9	1797	c.1409C>T	c.(1408-1410)cCa>cTa	p.P470L	RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000369272.3_3'UTR|FMO5_ENST00000441068.2_Intron	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	470						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					ATAGTGGATTGGAGTGCAGGG	0.532000													22	25					0	0	0.002299	0	0
ADAM21	8747	broad.mit.edu	37	14	70924745	70924745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:70924745G>A	ENST00000603540.1	+	2	787	c.529G>A	c.(529-531)Gag>Aag	p.E177K	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.E177K	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	177					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGCTTAACAGAGAAGGAAGT	0.443000													62	29					0	0	0.003610	0	0
PDLIM1	9124	broad.mit.edu	37	10	97031403	97031403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:97031403G>A	ENST00000329399.6	-	2	343	c.235C>T	c.(235-237)Ctc>Ttc	p.L79F	PDLIM1_ENST00000477757.1_Intron	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	79	PDZ.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTACAGTGAGAGTCAAGTTG	0.448000													73	105					0	0	0.003610	0	0
TMC1	117531	broad.mit.edu	37	9	75407149	75407149	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:75407149G>A	ENST00000297784.5	+	17	1987	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K	TMC1_ENST00000396237.3_Missense_Mutation_p.E483K|TMC1_ENST00000340019.3_Missense_Mutation_p.E483K|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	483					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TACCCTTTGGGAAGCCAATAT	0.413000													157	18					0	0	0.003610	0	0
ZNF462	58499	broad.mit.edu	37	9	109692838	109692838	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:109692838C>T	ENST00000277225.5	+	4	6169	c.5880C>T	c.(5878-5880)atC>atT	p.I1960I	ZNF462_ENST00000457913.1_Silent_p.I1960I|ZNF462_ENST00000441147.2_Silent_p.I805I|ZNF462_ENST00000497489.1_3'UTR			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1960					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGCCAAAGATCAAGGAGAGGA	0.478000													30	3					0	0	0.001061	0	0
AIM1	202	broad.mit.edu	37	6	106968327	106968327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:106968327G>A	ENST00000369066.3	+	2	2507	c.2020G>A	c.(2020-2022)Gat>Aat	p.D674N		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	674							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAATGGCCAGGATAGCCCTGC	0.438000													22	32					0	0	0.003330	0	0
CLSTN2	64084	broad.mit.edu	37	3	140281662	140281662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:140281662C>T	ENST00000458420.3	+	14	2412	c.2222C>T	c.(2221-2223)tCc>tTc	p.S741F		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	741					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						GGTGTGGGCTCCATGAGCCGC	0.567000										HNSCC(16;0.037)			14	21					0	0	0.000958	0	0
SORL1	6653	broad.mit.edu	37	11	121391533	121391533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121391533G>A	ENST00000260197.7	+	9	1508	c.1379G>A	c.(1378-1380)gGa>gAa	p.G460E	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	460					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCCTTCACGGGATATGGAGAG	0.413000													16	29					0	0	0.003163	0	0
PIWIL3	440822	broad.mit.edu	37	22	25152644	25152644	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:25152644G>A	ENST00000332271.5	-	5	800	c.384C>T	c.(382-384)ctC>ctT	p.L128L	PIWIL3_ENST00000533313.1_Silent_p.L19L|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.L19L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	128					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTGGTTGGCGAGTAGCTGTA	0.428000													5	19					0	0	0.000602	0	0
FAT4	79633	broad.mit.edu	37	4	126337621	126337621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126337621G>A	ENST00000394329.3	+	6	6875	c.6862G>A	c.(6862-6864)Gat>Aat	p.D2288N	FAT4_ENST00000335110.5_Missense_Mutation_p.D586N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2288	Cadherin 22.				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						AAGAGATGATGATCGAGGATC	0.383000													76	85					0	0	0.003610	0	0
RAVER2	55225	broad.mit.edu	37	1	65273010	65273010	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:65273010G>A	ENST00000294428.3	+	9	1611	c.1533G>A	c.(1531-1533)caG>caA	p.Q511Q	RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Silent_p.Q498Q			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	511						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGGAGAAACAGCCAGCCACGG	0.512000													15	29					0	0	0.004990	0	0
ZFHX3	463	broad.mit.edu	37	16	72830485	72830485	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72830485C>T	ENST00000268489.5	-	9	6768	c.6096G>A	c.(6094-6096)ctG>ctA	p.L2032L	ZFHX3_ENST00000397992.5_Silent_p.L1118L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2032					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTGGGGCCTCAGTGGGTACA	0.592000													43	64					0	0	0.003610	0	0
MKX	283078	broad.mit.edu	37	10	28024257	28024257	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:28024257A>G	ENST00000375790.5	-	4	827	c.395T>C	c.(394-396)gTt>gCt	p.V132A	MKX_ENST00000419761.1_Missense_Mutation_p.V132A			Q8IYA7	MKX_HUMAN	mohawk homeobox	132					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						TGGCTGTCGAACGGTATTCTT	0.373000													35	61					0	0	0.003755	0	0
PCLO	27445	broad.mit.edu	37	7	82764151	82764151	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82764151G>A	ENST00000423517.2	-	3	3052	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F	PCLO_ENST00000333891.8_Silent_p.F905F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	851	Pro-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						GATTCAGACTGAAACGCCTTG	0.537000													64	134					0	0	0.003610	0	0
SAMD11	148398	broad.mit.edu	37	1	874805	874805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:874805C>T	ENST00000342066.3	+	7	754	c.671C>T	c.(670-672)cCc>cTc	p.P224L		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	224						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GAGGACCCACCCTGGCATGAT	0.647000													16	22					0	0	0.006122	0	0
ATP8B3	148229	broad.mit.edu	37	19	1784832	1784832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1784832C>T	ENST00000539485.1	-	28	3909	c.3676G>A	c.(3676-3678)Gag>Aag	p.E1226K	ATP8B3_ENST00000310127.6_Missense_Mutation_p.E1216K|ATP8B3_ENST00000525591.1_Missense_Mutation_p.E1179K			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1216					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GCACGTAGCTCCTTGAGGGCT	0.622000													4	8					0	0	0.000248	0	0
FOXJ2	55810	broad.mit.edu	37	12	8203144	8203144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:8203144C>T	ENST00000162391.3	+	10	2709	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	522					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCCACAAGCTCCCCACCTCTA	0.517000													42	44					0	0	0.003610	0	0
C3	718	broad.mit.edu	37	19	6679182	6679182	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6679182G>A	ENST00000245907.6	-	38	4676	c.4584C>T	c.(4582-4584)acC>acT	p.T1528T	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1528	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTTCTTCCAGGGTGACCTTGT	0.552000													9	27					0	0	0.000978	0	0
RGS9	8787	broad.mit.edu	37	17	63221186	63221186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:63221186C>T	ENST00000449996.3	+	18	1537	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S	RGS9_ENST00000443584.3_Missense_Mutation_p.P489S|RGS9_ENST00000262406.9_Missense_Mutation_p.P492S	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	492					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCCCCCGTCTCCTTCTAGCCC	0.652000													67	10					0	0	0.003610	0	0
ZNF208	7757	broad.mit.edu	37	19	22170085	22170085	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:22170085G>A	ENST00000397126.4	-	3	307	c.159C>T	c.(157-159)atC>atT	p.I53I	ZNF208_ENST00000601773.1_Silent_p.I53I|ZNF208_ENST00000597040.1_Silent_p.I21I|ZNF208_ENST00000599916.1_Silent_p.I53I	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)				CCAGAAAAATGATCAGGTCTG	0.403000													27	46					0	0	0.001271	0	0
KLHL1	57626	broad.mit.edu	37	13	70314627	70314627	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:70314627C>T	ENST00000377844.4	-	8	2460	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	KLHL1_ENST00000545028.1_Silent_p.L374L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	567					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCACTGTATTCAGATAGCTCC	0.428000													20	10					0	0	0.001523	0	0
OR2T34	127068	broad.mit.edu	37	1	248737485	248737485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248737485G>A	ENST00000328782.2	-	1	595	c.574C>T	c.(574-576)Ctc>Ttc	p.L192F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGCAGGAGAGCTTCAGCAGG	0.512000													66	54					0	0	0.003610	0	0
MCOLN2	255231	broad.mit.edu	37	1	85403518	85403518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:85403518G>A	ENST00000370608.3	-	11	1322	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	MCOLN2_ENST00000284027.5_Missense_Mutation_p.R391W|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	419						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GCACAAAACCGAAGAACTTTT	0.403000													15	14					0	0	0.002450	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99438729	99438729	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:99438729G>A	ENST00000397899.2	-	7	2338	c.2007C>T	c.(2005-2007)gcC>gcT	p.A669A		NM_207362.2	NP_997245.2			KIAA1211-like																		GCTCCTGGGCGGCTGGGCAGG	0.736000													4	8					0	0	0.000602	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169711892	169711892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:169711892G>A	ENST00000444448.2	+	14	1533	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E218K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E268K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E218K|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E353K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E268K|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E296K			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	296					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AATGGATAAAGAGAGACGAAA	0.378000													20	39					0	0	0.001216	0	0
MB21D1	115004	broad.mit.edu	37	6	74155359	74155359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:74155359G>A	ENST00000370315.3	-	2	863	c.769C>T	c.(769-771)Ccg>Tcg	p.P257S	MB21D1_ENST00000370318.1_Missense_Mutation_p.P257S	NM_138441.2	NP_612450.2	Q8N884	M21D1_HUMAN	Mab-21 domain containing 1	257										central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTTTCTTTCGGATTTCTTTTA	0.313000													35	30					0	0	0.003271	0	0
LRTM2	654429	broad.mit.edu	37	12	1943471	1943471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:1943471G>A	ENST00000543818.1	+	5	1539	c.697G>A	c.(697-699)Gag>Aag	p.E233K	CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.E233K|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000535041.1_Missense_Mutation_p.E233K	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	233	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCTGCCCAAGGAGCTGAGGGG	0.582000													11	24					0	0	0.001855	0	0
XKR4	114786	broad.mit.edu	37	8	56270245	56270245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:56270245C>T	ENST00000327381.5	+	2	914	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	272						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)			TAGATATTTCCACACAATATA	0.383000													33	27					0	0	0.002836	0	0
HYDIN	54768	broad.mit.edu	37	16	70871596	70871596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70871596C>T	ENST00000393567.2	-	77	13389	c.13239G>A	c.(13237-13239)atG>atA	p.M4413I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4413										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGTTACCTTCATTTTGGTAC	0.488000													26	33					0	0	0.005443	0	0
XIST	7503	broad.mit.edu	37	X	73063783	73063783	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73063783C>T	ENST00000429829.1	-	0	8805					NR_001564.2																						GTTGATAGTCCACCAGAAGGG	0.408000													19	2					0	0	0.006122	0	0
KLK9	284366	broad.mit.edu	37	19	51506442	51506442	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51506442G>A	ENST00000250366.6	-	5	711	c.678C>T	c.(676-678)tcC>tcT	p.S226S	CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Silent_p.S226S|KLK9_ENST00000594211.1_Silent_p.S226S	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	226	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		GCCGGGGTCTGGAGCAGGGCT	0.637000													24	25					0	0	0.003954	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167376	140167376	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140167376G>A	ENST00000504120.2	+	1	1501	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	PCDHA1_ENST00000394633.3_Missense_Mutation_p.E501K|PCDHA1_ENST00000378133.3_Missense_Mutation_p.E501K	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGTGGGCGAGCGCGCGCT	0.677000													21	5					0	0	0.001882	0	0
DENND2A	27147	broad.mit.edu	37	7	140221881	140221881	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:140221881C>G	ENST00000275884.6	-	17	3102	c.2685G>C	c.(2683-2685)ttG>ttC	p.L895F	DENND2A_ENST00000537639.1_Missense_Mutation_p.L895F|DENND2A_ENST00000496613.1_Missense_Mutation_p.L895F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	895	dDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCACCTCGTTCAAGGGGCTGG	0.577000													22	23					0	0	0.001271	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065146	63065146	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:63065146A>C	ENST00000544661.1	+	5	740	c.312A>C	c.(310-312)caA>caC	p.Q104H	SLC22A10_ENST00000535888.1_Missense_Mutation_p.Q49H|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000332793.6_Missense_Mutation_p.Q259H|SLC22A10_ENST00000525620.1_3'UTR			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	259						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGACTGGCAAACCCTGCACG	0.483000													29	56					0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179452454	179452454	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179452454G>A	ENST00000589042.1	-	306	63806	c.63582C>T	c.(63580-63582)ctC>ctT	p.L21194L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.L12129L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.L19553L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.L12254L|TTN_ENST00000342992.6_Silent_p.L18626L|TTN_ENST00000342175.6_Silent_p.L12321L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19553	Fibronectin type-III 53.						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)			CTATAGCAAAGAGACGAATAG	0.443000													17	18					0	0	0.004990	0	0
VPS41	27072	broad.mit.edu	37	7	38857459	38857459	+	Silent	SNP	G	G	A	rs150900239		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:38857459G>A	ENST00000310301.4	-	7	462	c.408C>T	c.(406-408)ttC>ttT	p.F136F	VPS41_ENST00000395969.2_Silent_p.F111F	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	136					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.F136F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGGATCTCACGAAATGTGGGT	0.468000													30	60					0	0	0.002096	0	0
FAM26E	254228	broad.mit.edu	37	6	116832945	116832945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:116832945G>A	ENST00000368599.3	+	1	137	c.86G>A	c.(85-87)gGa>gAa	p.G29E	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	29						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CTGACCGTGGGAAGTGAGCGT	0.463000													40	67					0	0	0.001287	0	0
TRAV1-1	28693	broad.mit.edu	37	14	22090560	22090560	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22090560G>A	ENST00000542354.1	+	0	232																											CCAGCAACATGATGGCGGAGC	0.483000													40	73					0	0	0.003610	0	0
CNTN5	53942	broad.mit.edu	37	11	100170081	100170081	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100170081G>A	ENST00000524871.1	+	20	2863	c.2573G>A	c.(2572-2574)gGa>gAa	p.G858E	CNTN5_ENST00000528682.1_Missense_Mutation_p.G858E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G858E|CNTN5_ENST00000279463.3_Missense_Mutation_p.G858E|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.G784E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	858	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AACAATAAAGGAGATGGGCCT	0.348000													35	52					0	0	0.001951	0	0
OR2J2	26707	broad.mit.edu	37	6	29141898	29141898	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29141898C>T	ENST00000377167.2	+	1	588	c.486C>T	c.(484-486)tcC>tcT	p.S162S		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TTCATTCCTCCTTTACTTTCT	0.468000													68	96					0	0	0.003610	0	0
MYH7B	57644	broad.mit.edu	37	20	33567514	33567514	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33567514C>T	ENST00000262873.7	+	5	467	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	83	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCCTCGCTTCGACTTACTGG	0.632000													18	61					0	0	0.001523	0	0
PDK4	5166	broad.mit.edu	37	7	95222231	95222231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:95222231G>A	ENST00000005178.5	-	4	567	c.370C>T	c.(370-372)Cga>Tga	p.R124*		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	124					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGTCTATTTCGAACTTTGATG	0.353000													64	51					0	0	0.003610	0	0
OR1F1	4992	broad.mit.edu	37	16	3254246	3254246	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3254246C>T	ENST00000304646.2	+	1	0		c.e1-1		AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ATCCCAGGCCCATGAGCGGGA	0.532000													6	10					0	0	0.003080	0	0
PARK2	5071	broad.mit.edu	37	6	162622263	162622263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:162622263C>T	ENST00000366898.1	-	4	536	c.434G>A	c.(433-435)aGc>aAc	p.S145N	PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Missense_Mutation_p.S145N|PARK2_ENST00000366892.1_Missense_Mutation_p.S145N|PARK2_ENST00000338468.3_Intron|PARK2_ENST00000366894.1_5'UTR	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	145					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CACATAAAAGCTGTTGTAGAT	0.458000													22	35					0	0	0.002299	0	0
DOK5	55816	broad.mit.edu	37	20	53205089	53205089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:53205089G>A	ENST00000262593.5	+	3	592	c.242G>A	c.(241-243)gGg>gAg	p.G81E	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	81	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CATGCCATAGGGATTTATTTC	0.418000													76	54					0	0	0.003610	0	0
MS4A4A	51338	broad.mit.edu	37	11	60059814	60059814	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60059814G>A	ENST00000355131.3	+	3	324	c.101G>A	c.(100-102)gGa>gAa	p.G34E	MS4A4A_ENST00000337908.4_Missense_Mutation_p.G53E|MS4A4A_ENST00000395016.3_Missense_Mutation_p.G34E|MS4A4A_ENST00000532114.1_Missense_Mutation_p.G53E	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	53						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CTGTGGAAAGGATTGCAAGAG	0.488000													25	29					0	0	0.003954	0	0
EMR3	84658	broad.mit.edu	37	19	14774249	14774249	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:14774249G>A	ENST00000253673.5	-	3	280	c.180C>T	c.(178-180)ttC>ttT	p.F60F	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000443157.2_Silent_p.F60F|EMR3_ENST00000344373.4_Silent_p.F60F	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	60	EGF-like 1.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TCTCCAAGGGGAATGTGAATA	0.393000													26	39					0	0	0.001512	0	0
OR8K5	219453	broad.mit.edu	37	11	55927440	55927440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55927440C>T	ENST00000313447.1	-	1	353	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GGTCATAGGCCATGGCTGACA	0.413000													33	53					0	0	0.002836	0	0
SEMG2	6407	broad.mit.edu	37	20	43851300	43851300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:43851300G>A	ENST00000372769.3	+	2	1117	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	343	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGGCCATAAGGAAAATAAAAT	0.378000													50	26					0	0	0.003610	0	0
CALCRL	10203	broad.mit.edu	37	2	188228121	188228121	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:188228121G>A	ENST00000409998.1	-	10	1390	c.609C>T	c.(607-609)gcC>gcT	p.A203A	CALCRL_ENST00000410068.1_Silent_p.A203A|CALCRL_ENST00000392370.3_Silent_p.A203A|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	203						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TGGCTACTAAGGCCTGGTTGT	0.418000													26	53					0	0	0.001061	0	0
SOX6	55553	broad.mit.edu	37	11	16071343	16071343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:16071343G>A	ENST00000352083.6	-	11	1470	c.1393C>T	c.(1393-1395)Cct>Tct	p.P465S	SOX6_ENST00000527619.1_Missense_Mutation_p.P427S|SOX6_ENST00000316399.6_Missense_Mutation_p.P465S|SOX6_ENST00000396356.3_Missense_Mutation_p.P465S|SOX6_ENST00000528429.1_Missense_Mutation_p.P465S|SOX6_ENST00000528252.1_Missense_Mutation_p.P424S			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	465					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ATGGGGCTAGGGATGCTGCTT	0.493000													99	115					0	0	0.003610	0	0
SFRP4	6424	broad.mit.edu	37	7	37951821	37951821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:37951821G>A	ENST00000436072.2	-	4	1068	c.691C>T	c.(691-693)Cct>Tct	p.P231S	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	231	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						TGAGTTCGAGGGATGGGTGAT	0.473000													31	58					0	0	0.002445	0	0
CTRC	11330	broad.mit.edu	37	1	15767060	15767060	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:15767060C>T	ENST00000375949.4	+	3	230	c.204C>T	c.(202-204)ttC>ttT	p.F68F	CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	68	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGCAACTTCGTCCTCACTG	0.592000													10	12					0	0	0.001368	0	0
PNKD	25953	broad.mit.edu	37	2	219206854	219206854	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219206854C>T	ENST00000273077.4	+	7	819	c.768C>T	c.(766-768)ttC>ttT	p.F256F	PNKD_ENST00000436005.2_Silent_p.F196F|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Silent_p.F232F	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	256						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGCTCTTCCTCTCTGGCT	0.607000													8	20					0	0	0.000673	0	0
GABRA6	2559	broad.mit.edu	37	5	161117250	161117250	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:161117250G>A	ENST00000523217.1	+	7	929	c.687G>A	c.(685-687)aaG>aaA	p.K229K	GABRA6_ENST00000274545.5_Silent_p.K239K	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	239					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGCAAAGGAAGATGGGCTACT	0.398000										TCGA Ovarian(5;0.080)			35	15					0	0	0.002836	0	0
ARMC2	84071	broad.mit.edu	37	6	109233635	109233635	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:109233635G>A	ENST00000392644.4	+	10	1392	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	ARMC2_ENST00000368972.3_Silent_p.L243L	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	408							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CTGGAAATCTGGGATTTCTTA	0.328000													27	43					0	0	0.003954	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128843307	128843307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128843307G>A	ENST00000310343.9	-	21	3051	c.3052C>T	c.(3052-3054)Cct>Tct	p.P1018S	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P669S|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P669S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1018					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAATCCTGAGGGGGGTCATGG	0.493000													28	59					0	0	0.001786	0	0
UNC5B	219699	broad.mit.edu	37	10	73051457	73051457	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:73051457C>T	ENST00000335350.6	+	10	1979	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	UNC5B_ENST00000373192.4_Silent_p.F510F	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	521					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACACCCACTTCCTGCACCTGC	0.697000													10	10					0	0	0.000978	0	0
RIMS2	9699	broad.mit.edu	37	8	105257166	105257166	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105257166G>A	ENST00000507740.1	+	18	3035	c.2799G>A	c.(2797-2799)agG>agA	p.R933R	RIMS2_ENST00000262231.10_Silent_p.R958R|RIMS2_ENST00000406091.3_Silent_p.R1119R|RIMS2_ENST00000339750.2_Silent_p.R55R|RIMS2_ENST00000436393.2_Silent_p.R1137R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1181					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAACTAAGGAGCACTGTCC	0.448000										HNSCC(12;0.0054)			85	63					0	0	0.003610	0	0
ATP1A3	478	broad.mit.edu	37	19	42479820	42479820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:42479820C>T	ENST00000545399.1	-	16	2416	c.2263G>A	c.(2263-2265)Gac>Aac	p.D755N	ATP1A3_ENST00000602133.1_Missense_Mutation_p.D712N|ATP1A3_ENST00000543770.1_Missense_Mutation_p.D753N|ATP1A3_ENST00000302102.5_Missense_Mutation_p.D742N	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	742					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AAGTTGTCGTCCAGCAGGATC	0.622000													21	32					0	0	0.002299	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795577	69795577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69795577G>A	ENST00000251566.4	-	6	1568	c.1538C>T	c.(1537-1539)tCc>tTc	p.S513F	UGT2A3_ENST00000420231.2_Missense_Mutation_p.S224F	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	513						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTTTGACAGGAAAATAAAAA	0.383000													24	35					0	0	0.002299	0	0
FAT4	79633	broad.mit.edu	37	4	126373646	126373646	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126373646C>T	ENST00000394329.3	+	9	11488	c.11475C>T	c.(11473-11475)tcC>tcT	p.S3825S	FAT4_ENST00000335110.5_Silent_p.S2123S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3825	EGF-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						CTGTGAGCTCCGTATTAAAAA	0.507000													23	27					0	0	0.002299	0	0
COL3A1	1281	broad.mit.edu	37	2	189864583	189864583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:189864583C>T	ENST00000304636.3	+	32	2415	c.2245C>T	c.(2245-2247)Cca>Tca	p.P749S	COL3A1_ENST00000317840.5_Missense_Mutation_p.P749S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	749	Triple-helical region.				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)	ACCAGGCGGTCCAGGTGCTGA	0.473000													6	8					0	0	0.003080	0	0
DAB2	1601	broad.mit.edu	37	5	39375143	39375143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:39375143G>A	ENST00000545653.1	-	13	2758	c.2228C>T	c.(2227-2229)cCa>cTa	p.P743L	DAB2_ENST00000339788.6_Missense_Mutation_p.P546L|DAB2_ENST00000509337.1_Missense_Mutation_p.P743L|DAB2_ENST00000320816.6_Missense_Mutation_p.P764L	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	764	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ATTTCCAAATGGATCCCTATA	0.353000													68	78					0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	90072346	90072346	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:90072346C>T	ENST00000405460.2	+	61	12576	c.12480C>T	c.(12478-12480)atC>atT	p.I4160I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4160					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)		CTAGGCACATCCTCATTGGGG	0.403000													20	7					0	0	0.000958	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190615322	190615322	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:190615322T>A	ENST00000264151.5	-	8	1329	c.1227A>T	c.(1225-1227)caA>caT	p.Q409H	OSGEPL1_ENST00000519810.1_3'UTR|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.Q409H	NM_022353.2	NP_071748.2	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	409					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CCATTTTTAATTGTGGTACTT	0.299000													5	11					0	0	0.003080	0	0
MAP7D2	256714	broad.mit.edu	37	X	20073891	20073891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:20073891C>T	ENST00000543767.1	-	2	124	c.124G>A	c.(124-126)Gat>Aat	p.D42N	MAP7D2_ENST00000379651.3_Intron|MAP7D2_ENST00000379643.5_Intron|MAP7D2_ENST00000443379.3_Intron|MAP7D2_ENST00000452324.3_Intron			Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	161										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GTCCCTGCATCCGGAGGGAGG	0.512000													7	2					0	0	0.003080	0	0
PTHLH	5744	broad.mit.edu	37	12	28116412	28116412	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:28116412C>T	ENST00000535992.1	-	3	739	c.393G>A	c.(391-393)ggG>ggA	p.G131G	PTHLH_ENST00000201015.4_Silent_p.G131G|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Silent_p.G131G|PTHLH_ENST00000539239.1_Silent_p.G131G|PTHLH_ENST00000545234.1_Silent_p.G131G|PTHLH_ENST00000395872.1_Silent_p.G131G|PTHLH_ENST00000354417.3_Silent_p.G131G|PTHLH_ENST00000395868.3_Silent_p.G131G			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	131					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CCTTGCGTTTCCCGGGCTTGC	0.522000													27	48					0	0	0.001271	0	0
CDH9	1007	broad.mit.edu	37	5	26903769	26903769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:26903769C>T	ENST00000231021.4	-	6	1148	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	326	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATAATCCCTTCCTGTGTATCC	0.398000													67	85					0	0	0.003610	0	0
C3orf79	152118	broad.mit.edu	37	3	153202397	153202397	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:153202397A>T	ENST00000446603.2	+	1	114	c.52A>T	c.(52-54)Aca>Tca	p.T18S	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	18										endometrium(1)|large_intestine(3)	4						TGCATTTACTACATTTCCATG	0.428000													64	106					0	0	0.003610	0	0
P2RY12	64805	broad.mit.edu	37	3	151056490	151056490	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151056490C>T	ENST00000302632.3	-	3	443	c.144G>A	c.(142-144)agG>agA	p.R48R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	48					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	GAAAGAAAATCCTCATCGCCA	0.388000													14	14					0	0	0.004990	0	0
ADCY1	107	broad.mit.edu	37	7	45753424	45753424	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:45753424C>T	ENST00000297323.7	+	20	3212	c.3190C>T	c.(3190-3192)Caa>Taa	p.Q1064*		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1064					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AAACGGCTCCCAAATCAGGTC	0.567000													35	51					0	0	0.001485	0	0
ZXDC	79364	broad.mit.edu	37	3	126191064	126191064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:126191064G>A	ENST00000389709.3	-	2	1045	c.992C>T	c.(991-993)tCc>tTc	p.S331F	ZXDC_ENST00000336332.5_Missense_Mutation_p.S331F	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	331					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCCAGGAAAGGAGCAGGAAAA	0.493000													28	26					0	0	0.001786	0	0
KCNH5	27133	broad.mit.edu	37	14	63174776	63174776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:63174776C>T	ENST00000322893.7	-	11	2685	c.2417G>A	c.(2416-2418)gGa>gAa	p.G806E	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	806					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTTCCATTTCCATTCTTCAT	0.458000													56	15					0	0	0.003610	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19209669	19209669	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:19209669G>A	ENST00000375341.3	-	7	884	c.627C>T	c.(625-627)ccC>ccT	p.P209P	ALDH4A1_ENST00000454547.1_5'UTR|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Silent_p.P209P|ALDH4A1_ENST00000538839.1_Silent_p.P209P|ALDH4A1_ENST00000538309.1_Silent_p.P149P	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	209					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGAAGTTAAAGGGCGAGATGG	0.672000													33	29					0	0	0.005524	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567248	45567248	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:45567248G>A	ENST00000588982.1	-	3	732	c.231C>T	c.(229-231)atC>atT	p.I77I	ZBTB7C_ENST00000332053.2_Silent_p.I77I|ZBTB7C_ENST00000586438.1_Silent_p.I77I|ZBTB7C_ENST00000590800.1_Silent_p.I77I|ZBTB7C_ENST00000535628.2_Silent_p.I77I			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	77	BTB.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGACAAAGTCGATCTCATAGA	0.582000													14	22					0	0	0.004007	0	0
THEMIS	387357	broad.mit.edu	37	6	128176254	128176254	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:128176254C>T	ENST00000543064.1	-	2	319	c.171G>A	c.(169-171)aaG>aaA	p.K57K	THEMIS_ENST00000368248.2_Silent_p.K57K|THEMIS_ENST00000537166.1_Silent_p.K22K|THEMIS_ENST00000368250.1_5'UTR	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	57	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTATGATCTTCTTAACTTTGA	0.353000													16	34					0	0	0.003163	0	0
DTX3L	151636	broad.mit.edu	37	3	122283300	122283300	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:122283300C>T	ENST00000296161.4	+	1	216	c.27C>T	c.(25-27)tcC>tcT	p.S9S	PARP9_ENST00000360356.2_5'UTR|DTX3L_ENST00000383661.3_Silent_p.S9S|PARP9_ENST00000477522.2_5'UTR	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	9					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GCCCGCCGTCCCCGCTCCTCG	0.731000													10	12					0	0	0.001368	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256710	32256710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:32256710G>A	ENST00000360482.2	-	16	3274	c.3145C>T	c.(3145-3147)Cag>Tag	p.Q1049*	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Nonsense_Mutation_p.Q1036*|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000257100.3_Nonsense_Mutation_p.Q529*	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1049					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCATCTGGCTGATAGTATCTC	0.602000													7	13					0	0	0.003080	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37199453	37199453	+	RNA	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:37199453A>T	ENST00000425901.2	+	0	2606					NR_033753.2																						TTTTGGTAGGAATCTTGGTTG	0.353000													79	20					0	0	0.003610	0	0
FAM71A	149647	broad.mit.edu	37	1	212799806	212799806	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:212799806C>T	ENST00000294829.3	+	1	2018	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	529										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TCAGCTCTTTCCTGAGGAACG	0.547000													15	35					0	0	0.003163	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36103909	36103909	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:36103909G>A	ENST00000258840.6	-	33	4879	c.4489C>T	c.(4489-4491)Ccc>Tcc	p.P1497S	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1450S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1463S|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1450S			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1450	Minimal domain that binds to TCF3/E12 (By similarity).				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						AGGCTCATGGGAAAATACCTT	0.403000													21	7					0	0	0.004656	0	0
NLRP13	126204	broad.mit.edu	37	19	56424543	56424543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56424543C>T	ENST00000588751.1	-	5	664	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E214K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	214							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CGCTGCAGTTCCTCATGTTCG	0.512000													49	93					0	0	0.003610	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910951	230910951	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:230910951G>A	ENST00000295190.4	-	4	1349	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	297						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACCAGTCCTCGAAGCCCTTCC	0.517000													18	17					0	0	0.000958	0	0
GDPD4	220032	broad.mit.edu	37	11	76980047	76980047	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:76980047C>T	ENST00000315938.4	-	8	796	c.546G>A	c.(544-546)ggG>ggA	p.G182G	GDPD4_ENST00000376217.2_Silent_p.G182G	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	182					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GAGAATAAATCCCCAGTGGCA	0.463000													34	36					0	0	0.002096	0	0
CHRM2	1129	broad.mit.edu	37	7	136700038	136700038	+	Missense_Mutation	SNP	G	G	A	rs142493466		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:136700038G>A	ENST00000445907.2	+	3	954	c.426G>A	c.(424-426)atG>atA	p.M142I	AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.M142I|CHRM2_ENST00000402486.3_Missense_Mutation_p.M142I|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M142I|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M142I|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.M142I|AC009264.1_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	142					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)	TGGCAGGTATGATGATTGCAG	0.502000													59	35					0	0	0.003610	0	0
SPEG	10290	broad.mit.edu	37	2	220338338	220338338	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:220338338C>T	ENST00000312358.7	+	17	4392	c.4260C>T	c.(4258-4260)gtC>gtT	p.V1420V	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1420	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGCCCAGGTCGTCTGGAGGA	0.632000													42	92					0	0	0.003610	0	0
DLX3	1747	broad.mit.edu	37	17	48072065	48072065	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48072065C>A	ENST00000434704.2	-	1	523	c.298G>T	c.(298-300)Gag>Tag	p.E100*		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	100						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AGCGGCTGCTCCCGATACGCC	0.627000													48	6					5.57489e-27	1.05016e-26	0.003610	1	0
PRB2	653247	broad.mit.edu	37	12	11546144	11546144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:11546144C>T	ENST00000389362.4	-	3	903	c.868G>A	c.(868-870)Gga>Aga	p.G290R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGCTGCCTCCTTGTGGGGGT	0.617000													84	101					0	0	0.003610	0	0
OR1D5	8386	broad.mit.edu	37	17	2966465	2966465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:2966465G>A	ENST00000575751.1	-	1	436	c.437C>T	c.(436-438)tCc>tTc	p.S146F		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						CCAACACAAGGAGAGGAGCAA	0.587000													8	8					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179598116	179598116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179598116C>T	ENST00000589042.1	-	54	16128	c.15904G>A	c.(15904-15906)Gtc>Atc	p.V5302I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V4985I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V4058I|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4985	Ig-like 33.						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)			TTACTGGCGACCAAGGGTCTC	0.473000													38	55					0	0	0.004878	0	0
ACOT12	134526	broad.mit.edu	37	5	80643675	80643675	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:80643675G>C	ENST00000307624.3	-	6	599	c.571C>G	c.(571-573)Cca>Gca	p.P191A		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	191	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GCATGGGGTGGGAGGACCAGT	0.468000													83	40					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179577629	179577629	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179577629G>A	ENST00000589042.1	-	94	27347	c.27123C>T	c.(27121-27123)atC>atT	p.I9041I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.I8724I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I7797I|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8724	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)			TTCCTTTTACGATACTTGTGA	0.413000													10	24					0	0	0.000978	0	0
DNAH17	8632	broad.mit.edu	37	17	76567698	76567698	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:76567698G>A	ENST00000389840.5	-	4	830	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	DNAH17_ENST00000585328.1_Silent_p.L236L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGAGGTTCAGCAGCCGAGTG	0.652000													37	12					0	0	0.003214	0	0
OR2G3	81469	broad.mit.edu	37	1	247769053	247769053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247769053C>T	ENST00000320002.2	+	1	198	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H56Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCCCTCTTCATACCCCAAT	0.433000													108	97					0	0	0.003610	0	0
SLC5A11	115584	broad.mit.edu	37	16	24883514	24883514	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:24883514T>C	ENST00000347898.3	+	5	968	c.346T>C	c.(346-348)Ttc>Ctc	p.F116L	SLC5A11_ENST00000424767.2_Missense_Mutation_p.F116L|SLC5A11_ENST00000545376.1_Missense_Mutation_p.F81L|SLC5A11_ENST00000449109.2_Missense_Mutation_p.F52L|SLC5A11_ENST00000568579.1_Missense_Mutation_p.F81L|SLC5A11_ENST00000567758.1_Missense_Mutation_p.F116L|SLC5A11_ENST00000539472.1_Missense_Mutation_p.F52L|SLC5A11_ENST00000569071.1_Missense_Mutation_p.F52L|SLC5A11_ENST00000565769.1_Missense_Mutation_p.F52L	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	116					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GGCCTGGATCTTCCTACCCAT	0.517000													90	164					0	0	0.003610	0	0
N4BP2	55728	broad.mit.edu	37	4	40119499	40119499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:40119499C>T	ENST00000261435.6	+	8	2091	c.1675C>T	c.(1675-1677)Cat>Tat	p.H559Y		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	559						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GCGTAACATTCATGGGGTAAG	0.308000													36	30					0	0	0.004878	0	0
OR4B1	119765	broad.mit.edu	37	11	48238673	48238673	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:48238673C>T	ENST00000309562.2	+	1	330	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCTTCCACTTCTTTGGGGTTG	0.423000													54	84					0	0	0.003610	0	0
NUDT4	11163	broad.mit.edu	37	12	93793087	93793087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:93793087C>T	ENST00000337179.5	+	5	918	c.478C>T	c.(478-480)Ctt>Ttt	p.L160F	NUDT4_ENST00000549992.1_Missense_Mutation_p.L107F|NUDT4_ENST00000548662.1_Missense_Mutation_p.L107F|NUDT4_ENST00000415493.2_Missense_Mutation_p.L159F|NUDT4_ENST00000547014.1_Missense_Mutation_p.L108F	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	159					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						AGTCCCTTCCCTTCCGGATAA	0.473000													13	177					0	0	0.001855	0	0
RADIL	55698	broad.mit.edu	37	7	4845237	4845237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:4845237C>T	ENST00000399583.3	-	10	2437	c.2250G>A	c.(2248-2250)tgG>tgA	p.W750*	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Nonsense_Mutation_p.W510*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	750	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCCCTGGCTCCCAGGTGCTCA	0.711000													13	19					0	0	0.001368	0	0
PTK2	5747	broad.mit.edu	37	8	141675085	141675085	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:141675085C>A	ENST00000522684.1	-	31	3106	c.2877G>T	c.(2875-2877)ttG>ttT	p.L959F	PTK2_ENST00000395218.2_Missense_Mutation_p.L972F|PTK2_ENST00000430260.2_Missense_Mutation_p.L269F|PTK2_ENST00000519419.1_Missense_Mutation_p.L1003F|PTK2_ENST00000517712.1_Missense_Mutation_p.L22F|PTK2_ENST00000538769.1_Missense_Mutation_p.L627F|PTK2_ENST00000517887.1_Missense_Mutation_p.L1003F|PTK2_ENST00000340930.3_Missense_Mutation_p.L972F|PTK2_ENST00000519465.1_Missense_Mutation_p.L587F|PTK2_ENST00000535192.1_Missense_Mutation_p.L913F|PTK2_ENST00000521059.1_Missense_Mutation_p.L959F	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	959	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCTCAGGGCCAAGCCGACTT	0.453000													36	33					1.60099e-16	3.00509e-16	0.004878	1	0
FAM114A2	10827	broad.mit.edu	37	5	153382520	153382520	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:153382520T>A	ENST00000351797.4	-	10	1079	c.1003A>T	c.(1003-1005)Acc>Tcc	p.T335S	FAM114A2_ENST00000520313.1_Missense_Mutation_p.T265S|FAM114A2_ENST00000520667.1_Missense_Mutation_p.T335S|FAM114A2_ENST00000522858.1_Missense_Mutation_p.T335S	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	335							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TCGTGGGCGGTATTTCTTGCC	0.398000													38	23					0	0	0.002522	0	0
DIDO1	11083	broad.mit.edu	37	20	61542308	61542308	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:61542308G>A	ENST00000266070.4	-	3	982	c.657C>T	c.(655-657)ccC>ccT	p.P219P	DIDO1_ENST00000354665.4_Silent_p.P219P|DIDO1_ENST00000395340.1_Silent_p.P219P|DIDO1_ENST00000395343.1_Silent_p.P219P|DIDO1_ENST00000370368.1_Silent_p.P219P|DIDO1_ENST00000370366.1_Silent_p.P219P|DIDO1_ENST00000266071.5_Silent_p.P219P|DIDO1_ENST00000370371.4_Silent_p.P219P|DIDO1_ENST00000395335.2_Silent_p.P219P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	219					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)					GATCGTTCTCGGGCTCCTGCT	0.627000													20	56					0	0	0.000958	0	0
GK	2710	broad.mit.edu	37	X	30714762	30714762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:30714762C>T	ENST00000378943.3	+	8	870	c.691C>T	c.(691-693)Cca>Tca	p.P231S	GK_ENST00000378945.3_Missense_Mutation_p.P231S|GK_ENST00000427190.1_Missense_Mutation_p.P26S|GK_ENST00000378946.3_Missense_Mutation_p.P231S	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	231					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						GGAAATTCTTCCAAATGTCCG	0.279000													44	9					0	0	0.003610	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670589	8670589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8670589G>A	ENST00000270328.4	-	2	273	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	ADAMTS10_ENST00000596709.1_Intron|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.P3S			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	3					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TGGCAGGCGGGAGCCATAGAG	0.682000													8	7					0	0	0.004482	0	0
SPAG17	200162	broad.mit.edu	37	1	118535128	118535128	+	Silent	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:118535128T>G	ENST00000336338.5	-	36	5387	c.5322A>C	c.(5320-5322)atA>atC	p.I1774I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1774						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCTCATTCTTTATGACCTCAT	0.478000													38	48					0	0	0.002522	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044176	75044176	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75044176G>A	ENST00000343932.4	+	4	1086	c.1023G>A	c.(1021-1023)agG>agA	p.R341R		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	341					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	AGATACAGAGGAAGATCCAGA	0.512000													20	32					0	0	0.001216	0	0
SPATA31A1	647060	broad.mit.edu	37	9	39361104	39361104	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:39361104G>A	ENST00000377647.3	+	4	3371	c.3342G>A	c.(3340-3342)agG>agA	p.R1114R		NM_001085452.1	NP_001078921.1			SPATA31 subfamily A, member 1																		AGAAGTCTAGGAAGCCCAACT	0.483000													87	36					0	0	0.003610	0	0
NEB	4703	broad.mit.edu	37	2	152422268	152422268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152422268G>A	ENST00000397345.3	-	115	18425	c.18223C>T	c.(18223-18225)Cat>Tat	p.H6075Y	NEB_ENST00000604864.1_Missense_Mutation_p.H6075Y|NEB_ENST00000603639.1_Missense_Mutation_p.H6075Y|NEB_ENST00000172853.10_Missense_Mutation_p.H4374Y|NEB_ENST00000427231.2_Missense_Mutation_p.H6075Y|NEB_ENST00000409198.1_Missense_Mutation_p.H4374Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6069					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCCTTACATGGTCCACAGAA	0.493000													10	8					0	0	0.000443	0	0
SPRR3	6707	broad.mit.edu	37	1	152975776	152975776	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152975776C>T	ENST00000331860.3	+	3	430	c.280C>T	c.(280-282)Cct>Tct	p.P94S	SPRR3_ENST00000542696.1_Intron|SPRR3_ENST00000295367.4_Missense_Mutation_p.P94S	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	94	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACCAAGGTCCCTGAGCCAGG	0.592000													22	20					0	0	0.003330	0	0
PRF1	5551	broad.mit.edu	37	10	72358192	72358192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:72358192C>T	ENST00000441259.1	-	3	1445	c.1285G>A	c.(1285-1287)Ggg>Agg	p.G429R	PRF1_ENST00000373209.2_Missense_Mutation_p.G429R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	429	C2.		G -> E (in FHL2).		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						AACCAGTCCCCCCACAGGCCC	0.622000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				8	21					0	0	0.000443	0	0
NLRP13	126204	broad.mit.edu	37	19	56423185	56423185	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56423185C>T	ENST00000588751.1	-	5	2022	c.1998G>A	c.(1996-1998)ttG>ttA	p.L666L	NLRP13_ENST00000342929.3_Silent_p.L666L			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	666							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTTCGTCCTCCAAAATATTAA	0.408000													45	68					0	0	0.003610	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833098	34833098	+	Silent	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:34833098T>G	ENST00000299505.6	+	10	3132	c.2259T>G	c.(2257-2259)ccT>ccG	p.P753P		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	753										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTCGGGCACCTGGGAAATGGG	0.592000													58	78					0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61932885	61932885	+	Silent	SNP	G	G	A	rs150715672		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61932885G>A	ENST00000280772.1	-	19	2435	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F	ANK3_ENST00000373827.2_Silent_p.F742F|ANK3_ENST00000503366.1_Silent_p.F731F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	748					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.F748F(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTGGAGCAGGAAATTAACAA	0.338000													14	29					0	0	0.006122	0	0
SPATA19	219938	broad.mit.edu	37	11	133714483	133714483	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:133714483G>A	ENST00000299140.3	-	3	242	c.188C>T	c.(187-189)cCt>cTt	p.P63L	SPATA19_ENST00000532889.1_Missense_Mutation_p.P63L	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	63					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ACCCTGGGAAGGGTGGTTGAT	0.512000													19	37					0	0	0.001523	0	0
POU6F2	11281	broad.mit.edu	37	7	39247114	39247114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:39247114G>A	ENST00000518318.2	+	4	448	c.406G>A	c.(406-408)Gga>Aga	p.G136R	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_Missense_Mutation_p.G136R|POU6F2_ENST00000559001.1_Missense_Mutation_p.G128R			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	136					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGCCAGCAAGGACTGGTTCT	0.597000													31	48					0	0	0.001271	0	0
ALG8	79053	broad.mit.edu	37	11	77823783	77823783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:77823783G>A	ENST00000376156.3	-	8	814	c.811C>T	c.(811-813)Cct>Tct	p.P271S	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Missense_Mutation_p.P271S	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	271					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CTCTTGAAAGGAAAGAGTCGG	0.413000													16	27					0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	142237992	142237992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:142237992C>T	ENST00000389484.3	-	3	1287	c.316G>A	c.(316-318)Ggg>Agg	p.G106R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	106	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCGTCATACCCATCTGGGCAG	0.403000										TSP Lung(27;0.18)			14	18					0	0	0.004007	0	0
MTUS1	57509	broad.mit.edu	37	8	17503462	17503462	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:17503462G>A	ENST00000381869.3	-	14	4097	c.3624C>T	c.(3622-3624)ttC>ttT	p.F1208F	MTUS1_ENST00000519263.1_Silent_p.F1208F|MTUS1_ENST00000544260.1_Silent_p.F407F|MTUS1_ENST00000262102.6_Silent_p.F1262F|MTUS1_ENST00000400046.1_Silent_p.F334F|MTUS1_ENST00000381861.3_Silent_p.F509F|MTUS1_ENST00000297488.6_Silent_p.F428F	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	1262						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGGGGCTAGGGAAGGAGCCCG	0.552000													24	3					0	0	0.001061	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978578	40978578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:40978578C>T	ENST00000352632.3	+	2	136	c.50C>T	c.(49-51)cCt>cTt	p.P17L	SPTBN4_ENST00000344104.3_Missense_Mutation_p.P17L|SPTBN4_ENST00000595535.1_Missense_Mutation_p.P17L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.P17L|SPTBN4_ENST00000598249.1_Missense_Mutation_p.P17L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	17	Actin-binding.				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)			CTGCCTGCTCCTAACAACAAC	0.647000													9	15					0	0	0.001368	0	0
COL4A5	1287	broad.mit.edu	37	X	107869005	107869005	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:107869005C>T	ENST00000328300.6	+	35	3331	c.3087C>T	c.(3085-3087)atC>atT	p.I1029I	COL4A5_ENST00000361603.2_Silent_p.I1029I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1029	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						AAGGAACCATCGGTGATATGG	0.413000									Alport syndrome with Diffuse Leiomyomatosis				22	6					0	0	0.004656	0	0
DARC	2532	broad.mit.edu	37	1	159175620	159175620	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159175620C>T	ENST00000537147.1	+	3	1234	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	DARC_ENST00000368122.2_Silent_p.L131L|DARC_ENST00000368121.2_Silent_p.L133L			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	131					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCTGTGTAGCCTGGGCTACTG	0.642000													32	25					0	0	0.002445	0	0
COL14A1	7373	broad.mit.edu	37	8	121267583	121267583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121267583G>A	ENST00000297848.3	+	23	3127	c.2857G>A	c.(2857-2859)Gaa>Aaa	p.E953K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E953K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E858K|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	953	Fibronectin type-III 8.				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)			GGTTGTTATAGAATCCCTCCA	0.448000													38	71					0	0	0.001951	0	0
CAPN13	92291	broad.mit.edu	37	2	30966426	30966426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:30966426G>A	ENST00000295055.8	-	13	1444	c.1268C>T	c.(1267-1269)cCa>cTa	p.P423L	CAPN13_ENST00000534090.2_Missense_Mutation_p.P423L	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	423					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AAACACGGGTGGAAATTTCTC	0.473000													34	30					0	0	0.003271	0	0
ABCC12	94160	broad.mit.edu	37	16	48119551	48119551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:48119551C>T	ENST00000311303.3	-	27	4126	c.3781G>A	c.(3781-3783)Gaa>Aaa	p.E1261K	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1261	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGCTGACGTTCCCCTACTGAG	0.418000													30	45					0	0	0.001287	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139732	142139732	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142139732G>A	ENST00000390374.3	-	0	83																											CTGTCCCTAGGAAACCCAGGA	0.532000													77	11					0	0	0.003610	0	0
KANSL3	55683	broad.mit.edu	37	2	97274369	97274369	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:97274369G>A	ENST00000599854.1	-	14	1823	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	KANSL3_ENST00000441706.2_Silent_p.S452S|KANSL3_ENST00000431828.1_Silent_p.S539S|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Silent_p.S333S	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	539																	TCTTGGGACTGGAGGTGGGGC	0.522000													12	41					0	0	0.003163	0	0
FBN3	84467	broad.mit.edu	37	19	8146339	8146339	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8146339G>A	ENST00000600128.1	-	58	7653	c.7239C>T	c.(7237-7239)ccC>ccT	p.P2413P	FBN3_ENST00000601739.1_Silent_p.P2413P|FBN3_ENST00000270509.2_Silent_p.P2413P			Q75N90	FBN3_HUMAN	fibrillin 3	2413	EGF-like 39; calcium-binding.					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						TACATGGCTTGGGGACCTGGC	0.592000													28	25					0	0	0.002836	0	0
TAOK2	9344	broad.mit.edu	37	16	29998371	29998371	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:29998371C>T	ENST00000308893.4	+	16	3821	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	TAOK2_ENST00000416441.2_Silent_p.I753I|TAOK2_ENST00000543033.1_Silent_p.I813I|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	926					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCCCGACATCCCTCCTGAAC	0.647000													36	66					0	0	0.004878	0	0
CARD10	29775	broad.mit.edu	37	22	37912287	37912287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37912287C>T	ENST00000403299.1	-	4	608	c.392G>A	c.(391-393)gGc>gAc	p.G131D	CARD10_ENST00000251973.5_Missense_Mutation_p.G131D			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	131					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					TTGGGTCAGGCCCTCAGGCCC	0.582000													5	7					0	0	0.003080	0	0
CDHR2	54825	broad.mit.edu	37	5	176002428	176002428	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176002428G>A	ENST00000510636.1	+	9	1042		c.e9+1		CDHR2_ENST00000506348.1_Splice_Site|CDHR2_ENST00000261944.5_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2						homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGCAGCCAAGGTGCACGGGGG	0.637000													15	9					0	0	0.004007	0	0
CACNA1E	777	broad.mit.edu	37	1	181767715	181767715	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181767715C>T	ENST00000526775.1	+	46	6666	c.6501C>T	c.(6499-6501)tcC>tcT	p.S2167S	CACNA1E_ENST00000367567.4_Silent_p.S1793S|CACNA1E_ENST00000367570.1_Silent_p.S2186S|CACNA1E_ENST00000360108.3_Silent_p.S2210S|CACNA1E_ENST00000357570.5_Silent_p.S2180S|CACNA1E_ENST00000367573.2_Silent_p.S2229S|CACNA1E_ENST00000358338.5_Silent_p.S2118S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2229					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTACATCTCCGAGCCCTACT	0.612000													9	16					0	0	0.004482	0	0
IRF6	3664	broad.mit.edu	37	1	209974688	209974688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:209974688G>A	ENST00000367021.3	-	3	243	c.71C>T	c.(70-72)cCt>cTt	p.P24L	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	24					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GATGAGCCCAGGGTAGAGGCC	0.572000										HNSCC(57;0.16)			46	69					0	0	0.003610	0	0
SP140L	93349	broad.mit.edu	37	2	231248225	231248225	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:231248225G>A	ENST00000243810.6	+	8	638	c.637_splice	c.e8-1	p.R213_splice	SP140L_ENST00000415673.2_Splice_Site_p.R213_splice|SP140L_ENST00000396563.4_Splice_Site_p.R213_splice|SP140L_ENST00000444636.1_Splice_Site_p.R213_splice			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	213						nucleus	DNA binding|metal ion binding	p.R213K(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGGTTTGAAGGAAAAAAGAAG	0.343000													3	4					0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	8996339	8996339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8996339C>T	ENST00000397910.4	-	61	41436	c.41233G>A	c.(41233-41235)Gac>Aac	p.D13745N	MUC16_ENST00000380951.5_Missense_Mutation_p.D386N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13747	SEA 11.			Missing (in Ref. 3; AAK74120).	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						AAGAGGCTGTCGTTGTCCAGG	0.542000													61	86					0	0	0.003610	0	0
SV2A	9900	broad.mit.edu	37	1	149879641	149879641	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:149879641G>A	ENST00000369146.3	-	9	1987	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F	SV2A_ENST00000369145.1_Silent_p.F499F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	499					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TCTCCAACGTGAAGTTAAAAG	0.512000													38	82					0	0	0.001287	0	0
ATF4	468	broad.mit.edu	37	22	39918017	39918017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:39918017C>T	ENST00000337304.2	+	2	1348	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	ATF4_ENST00000404241.2_Missense_Mutation_p.P156S|ATF4_ENST00000396680.1_Missense_Mutation_p.P156S	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	156					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CCAGGTTGCCCCCTTCACCTT	0.532000													37	51					0	0	0.004878	0	0
ADH1C	126	broad.mit.edu	37	4	100260777	100260777	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:100260777C>T	ENST00000515683.1	-	0	1411					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTTATTTTTTCAAAAGGTAAA	0.368000													32	30					0	0	0.001512	0	0
ZNF423	23090	broad.mit.edu	37	16	49669584	49669584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:49669584G>A	ENST00000561648.1	-	4	3532	c.3479C>T	c.(3478-3480)tCg>tTg	p.S1160L	ZNF423_ENST00000535559.1_Missense_Mutation_p.S1043L|ZNF423_ENST00000562871.1_Missense_Mutation_p.S1100L|ZNF423_ENST00000262383.2_Missense_Mutation_p.S1160L|ZNF423_ENST00000567169.1_Missense_Mutation_p.S1043L|ZNF423_ENST00000562520.1_Missense_Mutation_p.S1100L|ZNF423_ENST00000563137.2_Missense_Mutation_p.S1100L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1160					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGGCACTGGCGATGTCTGGGT	0.642000													21	38					0	0	0.001523	0	0
LRP10	26020	broad.mit.edu	37	14	23346335	23346335	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23346335C>T	ENST00000359591.4	+	7	2432	c.1741C>T	c.(1741-1743)Cag>Tag	p.Q581*	LRP10_ENST00000470660.1_Intron|LRP10_ENST00000546834.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	581					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGCCAGATCCCAGGTCACACC	0.692000													15	20					0	0	0.000958	0	0
COL5A3	50509	broad.mit.edu	37	19	10080329	10080329	+	Silent	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:10080329C>G	ENST00000264828.3	-	56	4105	c.4020G>C	c.(4018-4020)ggG>ggC	p.G1340G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1340	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GACCCGTCCTCCCTGGGGGCC	0.677000													6	6					0	0	0.001168	0	0
FUT9	10690	broad.mit.edu	37	6	96652059	96652059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:96652059G>A	ENST00000302103.5	+	3	1354	c.1028G>A	c.(1027-1029)aGg>aAg	p.R343K		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	343					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CATGTGAAAAGGCATCAAGAA	0.323000													36	43					0	0	0.003271	0	0
EVPL	2125	broad.mit.edu	37	17	74006214	74006214	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:74006214C>T	ENST00000301607.3	-	22	3325	c.3072G>A	c.(3070-3072)agG>agA	p.R1024R	EVPL_ENST00000586740.1_Silent_p.R1046R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1024	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGCCGGGGTCCCTCTCCACCT	0.647000													48	15					0	0	0.003610	0	0
LETM1	3954	broad.mit.edu	37	4	1843241	1843241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:1843241G>A	ENST00000302787.2	-	3	723	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	143					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)			TCTGCGGGGGGGCTGTACACC	0.597000													13	16					0	0	0.001368	0	0
DRD1	1812	broad.mit.edu	37	5	174869078	174869078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:174869078G>A	ENST00000393752.2	-	2	2017	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	342					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TAAGAGGGTTGAAAATGCCTT	0.453000													39	19					0	0	0.001287	0	0
ENGASE	64772	broad.mit.edu	37	17	77079621	77079621	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:77079621C>T	ENST00000579016.1	+	9	1200	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	400						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCTTGCCTTTCGTCACGTCCT	0.627000													25	7					0	0	0.001061	0	0
WSCD2	9671	broad.mit.edu	37	12	108603899	108603899	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:108603899G>A	ENST00000332082.4	+	5	1317	c.497_splice	c.e5-1	p.G167_splice	WSCD2_ENST00000547525.1_Splice_Site_p.G167_splice|WSCD2_ENST00000261400.3_Splice_Site_p.G167_splice|WSCD2_ENST00000549903.1_Splice_Site_p.G167_splice			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	167	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTCCCCCAGGGGTTACCTGTA	0.642000													15	14					0	0	0.000958	0	0
TAF1C	9013	broad.mit.edu	37	16	84213039	84213039	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:84213039G>A	ENST00000567759.1	-	14	2300	c.2118C>T	c.(2116-2118)ccC>ccT	p.P706P	TAF1C_ENST00000566732.1_Silent_p.P680P|TAF1C_ENST00000341690.6_Silent_p.P612P|TAF1C_ENST00000570117.1_Silent_p.P374P|TAF1C_ENST00000378541.4_Silent_p.P706P|TAF1C_ENST00000541676.1_Silent_p.P613P	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	706					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CGGGTGCAGGGGGTGGCTCTG	0.701000													16	22					0	0	0.006122	0	0
OR2S2	56656	broad.mit.edu	37	9	35957729	35957729	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:35957729G>A	ENST00000341959.2	-	1	422	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	123			R -> H (in dbSNP:rs2233563).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GCCACATAGCGATCAAATGCC	0.562000													16	9					0	0	0.004990	0	0
OGDHL	55753	broad.mit.edu	37	10	50960259	50960259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:50960259C>T	ENST00000374103.4	-	5	599	c.514G>A	c.(514-516)Gag>Aag	p.E172K	OGDHL_ENST00000432695.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.E115K	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	172					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGCTGGAACTCCTTATCAAGG	0.617000													14	27					0	0	0.004007	0	0
KIAA0226	9711	broad.mit.edu	37	3	197432026	197432026	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:197432026A>G	ENST00000273582.5	-	3	605	c.60T>C	c.(58-60)gaT>gaC	p.D20D	KIAA0226_ENST00000449205.1_Silent_p.D80D|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000389665.5_Silent_p.D80D|KIAA0226_ENST00000296343.5_Silent_p.D80D	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	80					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACTGCCAGTAATCCGTCTGGC	0.542000													12	12					0	0	0.003163	0	0
LARP6	55323	broad.mit.edu	37	15	71124473	71124473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:71124473G>A	ENST00000299213.8	-	3	1464	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	465					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CACCCCTACGGGTAGCCCATC	0.577000													31	38					0	0	0.002836	0	0
BRCA2	675	broad.mit.edu	37	13	32914045	32914045	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:32914045C>T	ENST00000544455.1	+	11	5780	c.5553C>T	c.(5551-5553)atC>atT	p.I1851I	BRCA2_ENST00000380152.3_Silent_p.I1851I	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1851					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTGGTAAAATCGTTTGTGTTT	0.308000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			65	38					0	0	0.003610	0	0
TBC1D8	11138	broad.mit.edu	37	2	101656758	101656758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:101656758G>A	ENST00000409318.1	-	6	1092	c.962C>T	c.(961-963)tCg>tTg	p.S321L	TBC1D8_ENST00000376840.4_Missense_Mutation_p.S306L	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	306	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CGTCCAGAGCGAACAGTCCAC	0.577000													11	28					0	0	0.000978	0	0
ADAM2	2515	broad.mit.edu	37	8	39682404	39682404	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:39682404G>A	ENST00000265708.4	-	4	304	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ADAM2_ENST00000521880.1_Silent_p.P67P|ADAM2_ENST00000347580.4_Silent_p.P67P|ADAM2_ENST00000379853.2_Silent_p.P67P|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	67					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TAAAATTATGGGGTAAAAAGT	0.264000													41	12					0	0	0.002522	0	0
MAGEC3	139081	broad.mit.edu	37	X	140926198	140926198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:140926198C>T	ENST00000298296.1	+	1	97	c.97C>T	c.(97-99)Cca>Tca	p.P33S		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	33										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)					TGCCTTATCCCCAGTGGTGCT	0.562000													39	9					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	215844527	215844527	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215844527C>T	ENST00000366943.2	-	64	14306	c.13920G>A	c.(13918-13920)ctG>ctA	p.L4640L	USH2A_ENST00000307340.3_Silent_p.L4640L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4640	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)		TTTGTACCTCCAGATGTGGAG	0.478000										HNSCC(13;0.011)			55	46					0	0	0.003610	0	0
MYH4	4622	broad.mit.edu	37	17	10357094	10357094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10357094C>T	ENST00000255381.2	-	23	2910	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	934					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGATCTCTTCCTCATCCTCA	0.443000													223	52					0	0	0.003610	0	0
OLFM4	10562	broad.mit.edu	37	13	53624759	53624759	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:53624759G>A	ENST00000219022.2	+	5	1464	c.1386G>A	c.(1384-1386)ggG>ggA	p.G462G		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	462	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		CAAACACAGGGAAAGAGGGCA	0.398000													32	27					0	0	0.002445	0	0
TRIM69	140691	broad.mit.edu	37	15	45052067	45052067	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:45052067C>A	ENST00000558173.1	+	4	5091	c.346C>A	c.(346-348)Cca>Aca	p.P116T	TRIM69_ENST00000558329.1_Missense_Mutation_p.P99T|TRIM69_ENST00000559390.1_Missense_Mutation_p.P320T|TRIM69_ENST00000561043.1_Missense_Mutation_p.P83T|TRIM69_ENST00000329464.4_Missense_Mutation_p.P320T|TRIM69_ENST00000560442.1_Missense_Mutation_p.P116T|TRIM69_ENST00000338264.4_Missense_Mutation_p.P161T			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	320	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CACTCTCTGCCCAGGTATCAG	0.468000													32	51					9.62906e-15	1.80633e-14	0.001287	1	0
SPHKAP	80309	broad.mit.edu	37	2	228884841	228884841	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228884841A>T	ENST00000392056.3	-	7	775	c.729T>A	c.(727-729)gtT>gtA	p.V243V	SPHKAP_ENST00000344657.5_Silent_p.V243V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	243						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TACTTTCCAAAACATTGGCTG	0.363000													43	82					0	0	0.002222	0	0
ALOX15	246	broad.mit.edu	37	17	4541961	4541961	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:4541961G>A	ENST00000570836.1	-	6	657	c.561C>T	c.(559-561)atC>atT	p.I187I	ALOX15_ENST00000545513.1_Silent_p.I209I|ALOX15_ENST00000293761.3_Silent_p.I187I|ALOX15_ENST00000574640.1_Silent_p.I148I			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	187	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GAGAGTCTTTGATAGCGAGGT	0.547000													46	8					0	0	0.003610	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499345	150499345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150499345G>A	ENST00000484928.1	+	3	798	c.217G>A	c.(217-219)Gga>Aga	p.G73R	TMEM176A_ENST00000461345.1_Missense_Mutation_p.G14R|TMEM176A_ENST00000004103.3_Missense_Mutation_p.G73R			Q96HP8	T176A_HUMAN	transmembrane protein 176A	73						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCCTAGGAGGATTTTTCTA	0.572000													21	55					0	0	0.002780	0	0
MYO18B	84700	broad.mit.edu	37	22	26164828	26164828	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26164828G>A	ENST00000335473.7	+	4	1195	c.945G>A	c.(943-945)ggG>ggA	p.G315G	MYO18B_ENST00000536101.1_Silent_p.G315G|MYO18B_ENST00000407587.2_Silent_p.G315G	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	315						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAATCCCTGGGAGAAAGTGGG	0.532000													8	11					0	0	0.003080	0	0
SF3B3	23450	broad.mit.edu	37	16	70562829	70562829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70562829C>T	ENST00000302516.5	+	3	335	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	42					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGAGCTGCTTCGCCCAGACCC	0.473000													30	21					0	0	0.004289	0	0
PCDH15	65217	broad.mit.edu	37	10	55587287	55587287	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55587287C>T	ENST00000373965.2	-	33	4648	c.4254G>A	c.(4252-4254)aaG>aaA	p.K1418K	PCDH15_ENST00000395430.1_Silent_p.K1408K|PCDH15_ENST00000395445.1_Silent_p.K1418K|PCDH15_ENST00000395432.2_Silent_p.K1371K|PCDH15_ENST00000395433.1_Silent_p.K1386K|PCDH15_ENST00000361849.3_Silent_p.K1411K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Silent_p.K1413K|PCDH15_ENST00000409834.1_Silent_p.K1022K|PCDH15_ENST00000437009.1_Silent_p.K1340K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.K1411K|PCDH15_ENST00000395438.1_Silent_p.K1411K|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1411					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)				TTCGTGCAGTCTTTGTACACT	0.527000										HNSCC(58;0.16)			26	40					0	0	0.001271	0	0
GJB3	2707	broad.mit.edu	37	1	35250684	35250684	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:35250684G>A	ENST00000373366.2	+	2	936	c.321G>A	c.(319-321)caG>caA	p.Q107Q	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Silent_p.Q107Q	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	107					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCACCGCCAGAAACACGGGG	0.632000													27	47					0	0	0.004656	0	0
JADE1	79960	broad.mit.edu	37	4	129792669	129792669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:129792669C>T	ENST00000226319.6	+	11	2061	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L	PHF17_ENST00000512960.1_Missense_Mutation_p.P594L|PHF17_ENST00000452328.2_Missense_Mutation_p.P582L	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		594					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CTGAAAAAGCCCCATAAGCGA	0.502000													13	35					0	0	0.001368	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515671	47515671	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:47515671G>A	ENST00000371901.3	+	12	1605		c.e12-1		CYP4X1_ENST00000538609.1_Splice_Site	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1							endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTTGTCTTCAGGAACTGCATT	0.408000													59	99					0	0	0.003610	0	0
DCDC1	341019	broad.mit.edu	37	11	30946894	30946894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30946894C>T	ENST00000597505.1	-	21	2958	c.2959G>A	c.(2959-2961)Gaa>Aaa	p.E987K	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E66K			P59894	DCDC1_HUMAN	doublecortin domain containing 1	222					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCAAATATTTCCTTCCCCTTT	0.348000													58	99					0	0	0.003610	0	0
CD109	135228	broad.mit.edu	37	6	74481166	74481166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:74481166G>A	ENST00000437994.2	+	15	2120	c.1689G>A	c.(1687-1689)tgG>tgA	p.W563*	CD109_ENST00000422508.2_Nonsense_Mutation_p.W486*|CD109_ENST00000287097.5_Nonsense_Mutation_p.W563*	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	563						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCTATATTGGAGTAAAGTGA	0.378000													29	35					0	0	0.002445	0	0
GBP1P1	400759	broad.mit.edu	37	1	89889905	89889905	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:89889905G>A	ENST00000513638.1	+	0	646					NR_003133.2																						TGGAACAGAAGGAGAGGAGTT	0.473000													168	270					0	0	0.003610	0	0
ADCY2	108	broad.mit.edu	37	5	7817040	7817040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:7817040G>A	ENST00000338316.4	+	23	3034	c.2945G>A	c.(2944-2946)gGg>gAg	p.G982E	ADCY2_ENST00000537121.1_Missense_Mutation_p.G802E	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	982					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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCCCTGGTAGGGAAGCTGGAT	0.507000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	34					0	0	0.003954	0	0
FYB	2533	broad.mit.edu	37	5	39119071	39119071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:39119071C>T	ENST00000351578.6	-	15	2358	c.2168G>A	c.(2167-2169)gGa>gAa	p.G723E	FYB_ENST00000515010.1_Missense_Mutation_p.G723E|FYB_ENST00000512982.1_Missense_Mutation_p.G769E|FYB_ENST00000505428.1_Missense_Mutation_p.G769E|FYB_ENST00000540520.1_Missense_Mutation_p.G779E	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	723					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATCTCTGGTTCCCCACTTTTT	0.323000													15	32					0	0	0.002450	0	0
LRP1B	53353	broad.mit.edu	37	2	141260580	141260580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141260580G>A	ENST00000389484.3	-	54	9585	c.8614C>T	c.(8614-8616)Cct>Tct	p.P2872S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2872	LDL-receptor class A 19.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GAATGGTCAGGACAGTCAAAG	0.398000										TSP Lung(27;0.18)			25	37					0	0	0.001061	0	0
APBB2	323	broad.mit.edu	37	4	41015685	41015685	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:41015685G>A	ENST00000295974.8	-	6	1379	c.750C>T	c.(748-750)atC>atT	p.I250I	APBB2_ENST00000506352.1_Silent_p.I250I|APBB2_ENST00000513140.1_Silent_p.I250I|APBB2_ENST00000508593.1_Silent_p.I250I	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	250					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.I250I(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCAGGTTCTGGATCCGGTGCA	0.587000													86	115					0	0	0.003610	0	0
ANO5	203859	broad.mit.edu	37	11	22301266	22301266	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:22301266C>A	ENST00000324559.8	+	22	3014	c.2697C>A	c.(2695-2697)gtC>gtA	p.V899V		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	899						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCAAGCATGTCATGATTGAGG	0.368000													27	28					7.01153e-11	1.31245e-10	0.001271	1	0
HSF2BP	11077	broad.mit.edu	37	21	44949831	44949831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:44949831C>T	ENST00000291560.2	-	9	1139	c.808G>A	c.(808-810)Gag>Aag	p.E270K	HSF2BP_ENST00000542962.1_Missense_Mutation_p.E195K	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	270					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		AGGCACACCTCTGCATCTGGA	0.453000													22	21					0	0	0.002780	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3683869	3683869	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:3683869C>T	ENST00000344754.4	-	5	1202	c.1203G>A	c.(1201-1203)tcG>tcA	p.S401S	SIGLEC1_ENST00000202578.4_Silent_p.S401S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	401	Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGACAGGGCCCGAGCGCTCGC	0.617000													11	9					0	0	0.001855	0	0
TAS1R2	80834	broad.mit.edu	37	1	19183908	19183908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:19183908G>A	ENST00000375371.3	-	2	421	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	134					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCCACCACACGGGAAATGTAG	0.552000													25	37					0	0	0.002780	0	0
LINS	55180	broad.mit.edu	37	15	101114334	101114334	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:101114334G>A	ENST00000314742.8	-	5	966	c.744C>T	c.(742-744)atC>atT	p.I248I	LINS_ENST00000560133.1_Silent_p.I129I|LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Silent_p.I248I	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	248										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AACACATCAGGATGTTTACTA	0.378000													21	26					0	0	0.001882	0	0
CD163L1	283316	broad.mit.edu	37	12	7531710	7531710	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7531710G>A	ENST00000313599.3	-	9	2292	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000416109.2_Silent_p.F755F|CD163L1_ENST00000396630.1_Silent_p.F745F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	745	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCTTTCTGTGAAATGAGGCT	0.473000													36	56					0	0	0.002222	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716769	13716769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:13716769C>T	ENST00000279593.3	-	13	3612	c.3403G>A	c.(3403-3405)Gac>Aac	p.D1135N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1135					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGGAACTGGTCCAGGTAGAAG	0.592000													13	23					0	0	0.002450	0	0
KCND3	3752	broad.mit.edu	37	1	112318747	112318747	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:112318747C>T	ENST00000369697.1	-	6	1932	c.1863G>A	c.(1861-1863)acG>acA	p.T621T	KCND3_ENST00000302127.4_Silent_p.T621T|KCND3_ENST00000315987.2_Silent_p.T640T			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	640						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AAGGAATGTTCGTGTTGGGGC	0.597000													45	59					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179594213	179594213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179594213C>T	ENST00000589042.1	-	64	18894	c.18670G>A	c.(18670-18672)Gga>Aga	p.G6224R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G5907R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G4980R|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5907	Ig-like 43.						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)			GGAGGTGTTCCCGTAACTTCA	0.443000													35	53					0	0	0.003755	0	0
INTS1	26173	broad.mit.edu	37	7	1516266	1516266	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:1516266G>A	ENST00000389470.4	-	38	5687	c.5688C>T	c.(5686-5688)ttC>ttT	p.F1896F	INTS1_ENST00000404767.3_Silent_p.F1697F			Q8N201	INT1_HUMAN	integrator complex subunit 1	1697					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCCCAGAGGAAGTCCAGAG	0.662000													12	41					0	0	0.002450	0	0
FER1L6	654463	broad.mit.edu	37	8	125035699	125035699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:125035699C>T	ENST00000522917.1	+	18	2355	c.2149C>T	c.(2149-2151)Cct>Tct	p.P717S	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P717S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	717						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCACACTATCCCTGACGTTTT	0.527000													38	70					0	0	0.001287	0	0
IQCF2	389123	broad.mit.edu	37	3	51895942	51895942	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:51895942G>A	ENST00000333127.3	+	2	116	c.87G>A	c.(85-87)caG>caA	p.Q29Q	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	29										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGACATTGCAGAAGAAGAAAC	0.338000													23	25					0	0	0.003954	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732590	37732590	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:37732590G>A	ENST00000330843.4	-	3	1077	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	RAB11FIP1_ENST00000524118.1_Silent_p.F207F|RAB11FIP1_ENST00000522727.1_Silent_p.F207F|RAB11FIP1_ENST00000287263.4_Silent_p.F355F	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	355					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CTGTAGAAGAGAACAAATGCT	0.557000													122	22					0	0	0.003610	0	0
NLRP8	126205	broad.mit.edu	37	19	56467279	56467279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56467279G>A	ENST00000291971.3	+	3	1926	c.1855G>A	c.(1855-1857)Gaa>Aaa	p.E619K	NLRP8_ENST00000590542.1_Missense_Mutation_p.E619K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	619						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AATCCGGGAGGAAGCCTTTGT	0.458000													22	30					0	0	0.002299	0	0
MECOM	2122	broad.mit.edu	37	3	168802767	168802767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:168802767G>A	ENST00000464456.1	-	15	4259	c.3059C>T	c.(3058-3060)tCc>tTc	p.S1020F	MECOM_ENST00000472280.1_Missense_Mutation_p.S1030F|MECOM_ENST00000468789.1_Missense_Mutation_p.S1029F|MECOM_ENST00000494292.1_Missense_Mutation_p.S1208F|MECOM_ENST00000433243.2_Missense_Mutation_p.S1030F|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000392736.3_Missense_Mutation_p.S1029F|MECOM_ENST00000264674.3_Missense_Mutation_p.S1094F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCACACGTTGGAAGAACTGTG	0.507000													28	35					0	0	0.001512	0	0
ZEB1	6935	broad.mit.edu	37	10	31816045	31816045	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31816045G>A	ENST00000446923.2	+	9	3571	c.3180G>A	c.(3178-3180)gaG>gaA	p.E1060E	ZEB1_ENST00000320985.10_Silent_p.E1076E|ZEB1_ENST00000542815.3_Silent_p.E1009E|ZEB1_ENST00000560721.2_Silent_p.E1056E|ZEB1_ENST00000361642.5_Silent_p.E1077E	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1076	Glu-rich (acidic).				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)				aagaagaagaggtagaagagg	0.443000													6	6					0	0	0.001984	0	0
PCSK5	5125	broad.mit.edu	37	9	78547391	78547391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:78547391G>A	ENST00000545128.1	+	2	827	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E97K|PCSK5_ENST00000376767.3_Missense_Mutation_p.E97K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	97					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CATTTCAATGGAACCAAAGGT	0.478000													38	6					0	0	0.005524	0	0
OR2T27	403239	broad.mit.edu	37	1	248814048	248814048	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248814048G>A	ENST00000344889.3	-	1	137	c.138C>T	c.(136-138)atC>atT	p.I46I		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGATGAGAATGATCTTGACCA	0.532000													7	27					0	0	0.000673	0	0
EPHB3	2049	broad.mit.edu	37	3	184295756	184295756	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:184295756C>T	ENST00000330394.2	+	8	2162	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	570						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGCTTGTCTTCGTGGTGGCTG	0.622000													27	47					0	0	0.003755	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219161	1219161	+	Silent	SNP	C	C	T	rs150521851		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:1219161C>T	ENST00000304460.10	+	9	1373	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	439					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGGAGGGCGTCGTTGTGCCCC	0.587000													8	14					0	0	0.003080	0	0
SERPINB5	5268	broad.mit.edu	37	18	61160362	61160362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61160362C>T	ENST00000489441.1	+	5	696	c.601C>T	c.(601-603)Cca>Tca	p.P201S	SERPINB5_ENST00000464346.1_Intron|SERPINB5_ENST00000382771.4_Intron			P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	0					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TAAAAGGAGCCCAATTATAGA	0.443000													13	20					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9057157	9057157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9057157G>A	ENST00000397910.4	-	3	30492	c.30289C>T	c.(30289-30291)Cat>Tat	p.H10097Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10099	Ser-rich.|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						GAAGAAGGATGAATTTTCTCT	0.468000													52	52					0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10314225	10314225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10314225C>T	ENST00000403437.2	-	15	1550	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	486	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCAGTTTCTCGTTGGTGAAG	0.403000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				81	16					0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113293423	113293423	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:113293423C>T	ENST00000297405.5	-	59	9732	c.9488G>A	c.(9487-9489)gGa>gAa	p.G3163E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2994E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3123E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3093E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3163	Sushi 23.					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						AGGTAAAGTTCCAGACCATGT	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	78					0	0	0.003330	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42363514	42363514	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42363514C>T	ENST00000290472.3	-	17	1777	c.1681_splice	c.e17-1	p.E561_splice		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	561	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGGGCTCCTTCTCTGAAGCCA	0.597000													8	11					0	0	0.000443	0	0
CYP2C8	1558	broad.mit.edu	37	10	96798654	96798654	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96798654C>T	ENST00000371270.3	-	8	1385	c.1291_splice	c.e8+1	p.G431_splice	CYP2C8_ENST00000535898.1_Splice_Site_p.G329_splice	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	431					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTCTATTACCTGCTGAGAAA	0.378000													17	31					0	0	0.002299	0	0
TRPM5	29850	broad.mit.edu	37	11	2433995	2433995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:2433995C>T	ENST00000452833.1	-	15	2358	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	TRPM5_ENST00000528453.1_Missense_Mutation_p.E782K|TRPM5_ENST00000533060.1_Missense_Mutation_p.E782K|TRPM5_ENST00000155858.6_Missense_Mutation_p.E782K			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	782						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGCCGGATTTCCTCCAGCACC	0.652000													116	14					0	0	0.003610	0	0
F13B	2165	broad.mit.edu	37	1	197029643	197029643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:197029643C>A	ENST00000367412.1	-	5	701	c.658G>T	c.(658-660)Gaa>Taa	p.E220*		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	220	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAACCATTTTCAATTAATCTT	0.264000													21	61					1.10513e-12	2.0715e-12	0.002299	1	0
SULT1C4	27233	broad.mit.edu	37	2	108994910	108994910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108994910G>A	ENST00000272452.2	+	1	443	c.117G>A	c.(115-117)tgG>tgA	p.W39*	SULT1C4_ENST00000409309.3_Nonsense_Mutation_p.W39*	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	39					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ATAAGATCTGGAACTTCCAAG	0.473000													69	95					0	0	0.003610	0	0
MORC1	27136	broad.mit.edu	37	3	108818267	108818267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108818267C>T	ENST00000232603.5	-	6	443	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	MORC1_ENST00000483760.1_Missense_Mutation_p.E121K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	121					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATCGTTTCTTCCTTCTTCGTA	0.343000													22	39					0	0	0.004656	0	0
DDX3X	1654	broad.mit.edu	37	X	41203558	41203558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:41203558C>T	ENST00000399959.2	+	10	1786	c.931C>T	c.(931-933)Cga>Tga	p.R311*	DDX3X_ENST00000457138.2_Nonsense_Mutation_p.R295*|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	311	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TCAGCAGATTCGAGACTTGGA	0.413000										HNSCC(61;0.18)			108	18					0	0	0.003610	0	0
HTR3D	200909	broad.mit.edu	37	3	183754282	183754282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:183754282C>T	ENST00000382489.3	+	4	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F	HTR3D_ENST00000334128.2_Missense_Mutation_p.S32F|HTR3D_ENST00000453435.1_Intron|HTR3D_ENST00000428798.2_Missense_Mutation_p.S106F	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	167						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	p.S167F(1)|p.S32F(1)		large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATTTCCCCTTCCATGGACAGA	0.488000													19	36					0	0	0.001523	0	0
DNAH5	1767	broad.mit.edu	37	5	13911582	13911582	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13911582C>T	ENST00000265104.4	-	12	1661	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	519	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)					ATTCCTTTTTCTTTATGGTTG	0.318000									Kartagener syndrome				10	91					0	0	0.000673	0	0
PDE6C	5146	broad.mit.edu	37	10	95372619	95372619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95372619C>T	ENST00000371447.3	+	1	275	c.137C>T	c.(136-138)tCc>tTc	p.S46F		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	46					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CCAGTCCAGTCCAGCATGTCC	0.602000													30	45					0	0	0.001061	0	0
MED23	9439	broad.mit.edu	37	6	131931276	131931276	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:131931276G>A	ENST00000403834.3	-	11	1178	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	MED23_ENST00000368068.3_Silent_p.L329L|MED23_ENST00000354577.4_Silent_p.L335L|MED23_ENST00000368058.1_Silent_p.L335L|MED23_ENST00000540546.1_Silent_p.L335L|MED23_ENST00000368053.4_Silent_p.L335L|MED23_ENST00000539158.1_Silent_p.L329L|MED23_ENST00000368060.3_Silent_p.L329L|MED23_ENST00000545957.1_Silent_p.L18L			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	329					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	p.L335L(1)|p.L329L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCTGCCACAGGAGTTGGCTTG	0.483000													21	30					0	0	0.004656	0	0
POLK	51426	broad.mit.edu	37	5	74848301	74848301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:74848301C>T	ENST00000241436.4	+	3	312	c.140C>T	c.(139-141)tCc>tTc	p.S47F	POLK_ENST00000380481.3_5'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.S47F|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000515295.1_Missense_Mutation_p.S47F|POLK_ENST00000504026.1_Missense_Mutation_p.S47F|POLK_ENST00000352007.5_Missense_Mutation_p.S47F	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	47					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CCATAGGGGTCCAGATTTTAT	0.383000								DNA polymerases (catalytic subunits)					18	12					0	0	0.006122	0	0
CECR1	51816	broad.mit.edu	37	22	17684653	17684653	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:17684653T>G	ENST00000399839.1	-	4	823	c.553A>C	c.(553-555)Aat>Cat	p.N185H	CECR1_ENST00000449907.2_Missense_Mutation_p.N143H|CECR1_ENST00000262607.3_Missense_Mutation_p.N185H|CECR1_ENST00000399837.2_Missense_Mutation_p.N185H			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	185	PRB domain.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AGAGTGAAATTCCTCAGCAAG	0.522000													7	11					0	0	0.003080	0	0
H6PD	9563	broad.mit.edu	37	1	9324222	9324222	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:9324222C>T	ENST00000377403.2	+	5	1972	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	H6PD_ENST00000602477.1_Missense_Mutation_p.S568F	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	557	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCGCTGGTCTCCGCCTGGTCC	0.667000													13	14					0	0	0.001855	0	0
GRIA2	2891	broad.mit.edu	37	4	158262426	158262426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:158262426G>A	ENST00000296526.7	+	12	2180	c.1855G>A	c.(1855-1857)Ggg>Agg	p.G619R	GRIA2_ENST00000507898.1_Missense_Mutation_p.G572R|GRIA2_ENST00000264426.9_Missense_Mutation_p.G619R|GRIA2_ENST00000449365.1_Missense_Mutation_p.G572R|GRIA2_ENST00000393815.2_Missense_Mutation_p.G572R	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	619					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATCCCTCTCTGGGCGCATTGT	0.393000													38	69					0	0	0.003214	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910264	108910264	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108910264C>T	ENST00000326853.5	+	2	594	c.141C>T	c.(139-141)taC>taT	p.Y47Y	SULT1C2_ENST00000409880.1_Silent_p.Y47Y|SULT1C2_ENST00000492554.1_3'UTR|SULT1C2_ENST00000251481.6_Silent_p.Y47Y|SULT1C2_ENST00000437390.2_Silent_p.Y47Y	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	47					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTGCACCTACCCTAAAGCAG	0.542000													13	15					0	0	0.001368	0	0
DNAH8	1769	broad.mit.edu	37	6	38890883	38890883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38890883C>T	ENST00000359357.3	+	70	10315	c.10061C>T	c.(10060-10062)tCc>tTc	p.S3354F	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3571F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3318F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGGCCGCCTCCACTCTCATC	0.448000													13	25					0	0	0.001368	0	0
TMEM130	222865	broad.mit.edu	37	7	98457810	98457810	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:98457810G>A	ENST00000450876.1	-	3	1606	c.291C>T	c.(289-291)ttC>ttT	p.F97F	TMEM130_ENST00000416379.2_Silent_p.F181F|TMEM130_ENST00000546258.1_Silent_p.F162F|TMEM130_ENST00000339375.4_Silent_p.F181F|TMEM130_ENST00000345589.4_Silent_p.F79F			Q8N3G9	TM130_HUMAN	transmembrane protein 130	181						Golgi membrane|integral to membrane		p.F181F(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCCGTCCCCGAAGTCCCAGC	0.582000													13	13					0	0	0.004007	0	0
AHCTF1	25909	broad.mit.edu	37	1	247063402	247063402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247063402G>A	ENST00000366508.1	-	10	1638	c.1502C>T	c.(1501-1503)cCc>cTc	p.P501L	AHCTF1_ENST00000391829.2_Missense_Mutation_p.P466L|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P475L			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	466	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AAACTGCTCGGGAGGTGGATA	0.353000													119	197					0	0	0.003610	0	0
SPEG	10290	broad.mit.edu	37	2	220353270	220353270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:220353270G>A	ENST00000312358.7	+	33	8041	c.7909G>A	c.(7909-7911)Gat>Aat	p.D2637N	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2637	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTCCTGCAAAGATGGGCGGCA	0.622000													24	28					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179425410	179425410	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179425410G>A	ENST00000589042.1	-	326	85673	c.85449C>T	c.(85447-85449)atC>atT	p.I28483I	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.I19418I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I26842I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.I19543I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.I25915I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.I19610I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26842							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I19543I(1)|p.I25913I(1)|p.I19418I(1)|p.I19610I(1)		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)			TGTAATAGTCGATATCTGCAC	0.458000													15	28					0	0	0.003163	0	0
PSKH2	85481	broad.mit.edu	37	8	87060847	87060847	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:87060847C>T	ENST00000276616.2	-	3	1076	c.1002G>A	c.(1000-1002)agG>agA	p.R334R		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	334							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GGGATATGGCCCTCTGGAGAT	0.537000													20	60					0	0	0.002299	0	0
BSN	8927	broad.mit.edu	37	3	49690463	49690463	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49690463C>T	ENST00000296452.4	+	5	3588	c.3474C>T	c.(3472-3474)ttC>ttT	p.F1158F		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1158					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGCCCACCTTCATGTCCCTCT	0.597000													14	16					0	0	0.002450	0	0
TUBE1	51175	broad.mit.edu	37	6	112393209	112393209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:112393209G>A	ENST00000368662.5	-	11	1243	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	389					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TGGCCCACAGGAGGTACGGAA	0.408000													28	67					0	0	0.001786	0	0
TP63	8626	broad.mit.edu	37	3	189455644	189455644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:189455644G>A	ENST00000264731.3	+	2	267	c.178G>A	c.(178-180)Gat>Aat	p.D60N	TP63_ENST00000418709.2_Missense_Mutation_p.D60N|TP63_ENST00000320472.5_Missense_Mutation_p.D60N|TP63_ENST00000440651.2_Missense_Mutation_p.D60N|TP63_ENST00000382063.4_Missense_Mutation_p.D60N|TP63_ENST00000392460.3_Missense_Mutation_p.D60N	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	60	Transcription activation.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCATATCTGGGATTTTCTGGA	0.388000										HNSCC(45;0.13)			17	25					0	0	0.001523	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89416997	89416997	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:89416997C>T	ENST00000490686.1	-	0	213																											GGGGCTTTCCCTGGTTTCTGC	0.522000													51	68					0	0	0.003610	0	0
DPP6	1804	broad.mit.edu	37	7	154379577	154379577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:154379577C>T	ENST00000406326.1	+	6	1248	c.845C>T	c.(844-846)tCa>tTa	p.S282L	DPP6_ENST00000332007.3_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGACCTGTTTCAGATATTCCA	0.567000													28	45					0	0	0.001271	0	0
ARAP2	116984	broad.mit.edu	37	4	36160466	36160466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:36160466G>A	ENST00000303965.4	-	15	3127	c.2638C>T	c.(2638-2640)Cat>Tat	p.H880Y		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	880	PH 3.				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						CCCTCGGAATGAATATCATGT	0.333000													16	30					0	0	0.006122	0	0
HTR1A	3350	broad.mit.edu	37	5	63256842	63256842	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:63256842C>T	ENST00000323865.3	-	1	938	c.705G>A	c.(703-705)aaG>aaA	p.K235K	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	235					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCGCTCCGGTCTTCTCCACCT	0.612000													26	11					0	0	0.001512	0	0
SORL1	6653	broad.mit.edu	37	11	121416052	121416052	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121416052C>T	ENST00000260197.7	+	14	2094	c.1965C>T	c.(1963-1965)acC>acT	p.T655T	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	655					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AACGGCGGACCCCCCATGCCA	0.542000													15	20					0	0	0.003163	0	0
CACNA1E	777	broad.mit.edu	37	1	181479682	181479682	+	Silent	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181479682T>A	ENST00000526775.1	+	2	501	c.336T>A	c.(334-336)ctT>ctA	p.L112L	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Silent_p.L112L|CACNA1E_ENST00000360108.3_Silent_p.L112L|CACNA1E_ENST00000357570.5_Silent_p.L63L|CACNA1E_ENST00000367573.2_Silent_p.L112L|CACNA1E_ENST00000358338.5_Silent_p.L63L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	112					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCAGCATCTTCCTGAGGATG	0.517000													9	19					0	0	0.000978	0	0
RBM33	155435	broad.mit.edu	37	7	155567706	155567706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:155567706C>T	ENST00000401878.3	+	18	3682	c.3484C>T	c.(3484-3486)Cac>Tac	p.H1162Y	RBM33_ENST00000341148.3_Missense_Mutation_p.H98Y	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	1162	RRM.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGATTTGTCCCACATAAATGT	0.478000													26	49					0	0	0.001786	0	0
THBS1	7057	broad.mit.edu	37	15	39880302	39880302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39880302G>A	ENST00000260356.5	+	9	1519	c.1354G>A	c.(1354-1356)Ggt>Agt	p.G452S		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	452	TSP type-1 2.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGTGACATGTGGTGATGGTGT	0.532000													29	46					0	0	0.002445	0	0
TOPBP1	11073	broad.mit.edu	37	3	133331239	133331239	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:133331239G>A	ENST00000260810.5	-	24	4160	c.4029C>T	c.(4027-4029)ttC>ttT	p.F1343F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1343	BRCT 7.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						ACACCTGCACGAAGTGTCCAG	0.493000								Other conserved DNA damage response genes					12	23					0	0	0.001855	0	0
EPHA6	285220	broad.mit.edu	37	3	96962854	96962854	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:96962854G>A	ENST00000389672.5	+	5	1367	c.1329G>A	c.(1327-1329)ttG>ttA	p.L443L	EPHA6_ENST00000470610.2_Silent_p.L443L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	348	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCCTTATTTTGGAATGGAGCC	0.418000													15	14					0	0	0.000958	0	0
MSGN1	343930	broad.mit.edu	37	2	17998085	17998085	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:17998085C>T	ENST00000281047.3	+	1	323	c.300C>T	c.(298-300)ttC>ttT	p.F100F		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	100					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTTAGCTTTCCAGCCCACCC	0.647000													14	25					0	0	0.004007	0	0
ZNF788	388507	broad.mit.edu	37	19	12221183	12221183	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:12221183C>T	ENST00000430298.2	+	2	272	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF788_ENST00000339302.4_5'UTR|ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000596883.1_Missense_Mutation_p.P43S					zinc finger family member 788											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						TTTGCTGGATCCTTCCCAAAA	0.473000													14	22					0	0	0.004007	0	0
KIAA1407	57577	broad.mit.edu	37	3	113724794	113724794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:113724794G>A	ENST00000295878.3	-	10	1575	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S	KIAA1407_ENST00000545063.1_Missense_Mutation_p.P308S	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	477										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCCCACAAAGGGGGCACAGCA	0.463000													30	46					0	0	0.002096	0	0
FLG	2312	broad.mit.edu	37	1	152275979	152275979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152275979C>T	ENST00000368799.1	-	3	11418	c.11383G>A	c.(11383-11385)Gga>Aga	p.G3795R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3795	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3795*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAGACCTTCCCTGGGATGTG	0.577000									Ichthyosis				95	238					0	0	0.003610	0	0
LAMA1	284217	broad.mit.edu	37	18	7011389	7011389	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:7011389G>A	ENST00000389658.3	-	25	3690	c.3597C>T	c.(3595-3597)ccC>ccT	p.P1199P		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1199	Laminin IV type A 2.				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)	GCAGGAAGTCGGGGGCCTGGT	0.612000													9	15					0	0	0.004482	0	0
PKIB	5570	broad.mit.edu	37	6	123046339	123046339	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:123046339G>A	ENST00000392490.1	+	4	633	c.236G>A	c.(235-237)tGa>tAa	p.*79*	PKIB_ENST00000368448.1_Silent_p.*79*|PKIB_ENST00000354275.2_Silent_p.*79*|PKIB_ENST00000392491.2_Silent_p.*79*|PKIB_ENST00000368446.1_Silent_p.*88*|PKIB_ENST00000258014.3_Silent_p.*86*|PKIB_ENST00000368452.2_Silent_p.*79*	NM_032471.5	NP_115860.1	Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	0							cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		GAAGAAAAATGAAGGCTCATA	0.328000													24	27					0	0	0.003330	0	0
ANK1	286	broad.mit.edu	37	8	41552234	41552234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:41552234C>T	ENST00000396942.1	-	28	3286	c.3203G>A	c.(3202-3204)cGg>cAg	p.R1068Q	ANK1_ENST00000347528.4_Missense_Mutation_p.R1068Q|ANK1_ENST00000379758.2_Missense_Mutation_p.R1068Q|ANK1_ENST00000265709.8_Missense_Mutation_p.R1109Q|ANK1_ENST00000396945.1_Missense_Mutation_p.R1068Q|ANK1_ENST00000289734.7_Missense_Mutation_p.R1068Q|ANK1_ENST00000352337.4_Missense_Mutation_p.R1068Q			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1068					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGGCAGAGCCGTGACATGAT	0.597000													25	9					0	0	0.004656	0	0
CD86	942	broad.mit.edu	37	3	121822513	121822513	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:121822513G>A	ENST00000330540.2	+	3	335	c.219G>A	c.(217-219)gaG>gaA	p.E73E	CD86_ENST00000469710.1_5'UTR|CD86_ENST00000393627.2_Silent_p.E67E|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	73	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TAGGCAAAGAGAAATTTGACA	0.433000													29	53					0	0	0.001512	0	0
STK31	56164	broad.mit.edu	37	7	23776684	23776684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:23776684C>T	ENST00000354639.3	+	8	1399	c.935C>T	c.(934-936)gCc>gTc	p.A312V	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.A335V|STK31_ENST00000355870.3_Missense_Mutation_p.A335V|STK31_ENST00000428484.1_Missense_Mutation_p.A312V	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	335							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGCAGATTGCCCAGGAGCTG	0.403000													8	18					0	0	0.003080	0	0
XKRX	402415	broad.mit.edu	37	X	100169665	100169665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:100169665C>T	ENST00000328526.5	-	3	1616	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.D338N	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	338						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCGACGAGATCTCTGTCTGCC	0.502000													81	16					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179576947	179576947	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179576947G>A	ENST00000589042.1	-	96	27834	c.27610C>T	c.(27610-27612)Cca>Tca	p.P9204S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P8887S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7960S|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8887	Ig-like 75.						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)			AAATACGGTGGTTCTGCAGCC	0.438000													46	40					0	0	0.003610	0	0
ZNF571	51276	broad.mit.edu	37	19	38056933	38056933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:38056933G>A	ENST00000328550.2	-	4	496	c.397C>T	c.(397-399)Cct>Tct	p.P133S	ZNF571_ENST00000358744.3_Missense_Mutation_p.P133S|ZNF571_ENST00000451802.2_Missense_Mutation_p.P133S|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000593133.1_Missense_Mutation_p.P133S|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTTGGTAGGAATTATCCGA	0.368000													52	49					0	0	0.003610	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278669	130278669	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:130278669C>T	ENST00000257359.6	-	7	2623	c.1917G>A	c.(1915-1917)gaG>gaA	p.E639E		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	639	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCACCTTGGCCTCGAACACTT	0.642000													22	31					0	0	0.003954	0	0
ABCA12	26154	broad.mit.edu	37	2	215838741	215838741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:215838741C>T	ENST00000272895.7	-	36	5713	c.5494G>A	c.(5494-5496)Gaa>Aaa	p.E1832K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E1514K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1832					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCCATTTTTCCAGACTGTCT	0.378000													17	31					0	0	0.004990	0	0
ZXDC	79364	broad.mit.edu	37	3	126189788	126189788	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:126189788C>A	ENST00000389709.3	-	4	1273	c.1220G>T	c.(1219-1221)gGc>gTc	p.G407V	ZXDC_ENST00000336332.5_Missense_Mutation_p.G407V	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	407					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TATGCTGTGGCCTTTCAGATG	0.473000													14	36					0.000151284	0.000281903	0.001855	1	0
LIPN	643418	broad.mit.edu	37	10	90528619	90528619	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:90528619G>A	ENST00000404459.1	+	5	606	c.606G>A	c.(604-606)acG>acA	p.T202T		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	202					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TGGGTCCTACGATCTCATTCA	0.408000													21	34					0	0	0.001216	0	0
TRDV1	28518	broad.mit.edu	37	14	22564757	22564757	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22564757C>T	ENST00000390452.2	+	0	226																											TTTCCTTATTCGCCAGGGTTC	0.423000													38	52					0	0	0.001951	0	0
POPDC3	64208	broad.mit.edu	37	6	105609341	105609341	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:105609341C>T	ENST00000254765.3	-	2	722	c.444G>A	c.(442-444)ggG>ggA	p.G148G	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Intron	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	148						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGGAAGTTTTCCCCTGCATGG	0.428000													30	52					0	0	0.001512	0	0
ADARB2	105	broad.mit.edu	37	10	1262912	1262912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:1262912G>A	ENST00000381312.1	-	7	1986	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	554	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTCCGTGCAGGACATGGTGAT	0.682000													6	11					0	0	0.001984	0	0
DLGAP1	9229	broad.mit.edu	37	18	3534363	3534363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:3534363C>T	ENST00000315677.3	-	10	2903	c.2308G>A	c.(2308-2310)Gac>Aac	p.D770N	DLGAP1_ENST00000581699.1_Missense_Mutation_p.D476N|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D770N|DLGAP1_ENST00000515196.2_Missense_Mutation_p.D770N|DLGAP1_ENST00000534970.1_Missense_Mutation_p.D454N|DLGAP1_ENST00000400147.2_Missense_Mutation_p.D468N|DLGAP1_ENST00000400145.2_Missense_Mutation_p.D468N|DLGAP1_ENST00000400149.3_Missense_Mutation_p.D460N|DLGAP1_ENST00000539435.1_Missense_Mutation_p.D478N|DLGAP1_ENST00000400150.3_Missense_Mutation_p.D486N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D770N|DLGAP1_ENST00000400155.1_Missense_Mutation_p.D476N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	770					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATCCAGGGGTCCGGAGGAGGC	0.562000													10	18					0	0	0.000673	0	0
CRYBB1	1414	broad.mit.edu	37	22	27003943	27003943	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:27003943G>A	ENST00000215939.2	-	4	472	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	114	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TCTCCAGGATGAACATCTCCC	0.562000													15	35					0	0	0.003163	0	0
TEX261	113419	broad.mit.edu	37	2	71219068	71219068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71219068G>A	ENST00000606025.1	-	3	774	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	TEX261_ENST00000466731.1_5'UTR|TEX261_ENST00000272438.4_Missense_Mutation_p.P66S																							ATGCTGGTGGGGAAGCGCTCA	0.552000													5	16					0	0	0.001168	0	0
TRPC1	7220	broad.mit.edu	37	3	142455375	142455375	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:142455375G>A	ENST00000273482.6	+	2	718	c.327_splice	c.e2+1	p.Q109_splice	TRPC1_ENST00000476941.1_Splice_Site_p.Q109_splice	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	109					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACGGTTGTCAGGTACAAGGCT	0.373000													35	57					0	0	0.004289	0	0
TAT	6898	broad.mit.edu	37	16	71604186	71604186	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:71604186G>C	ENST00000355962.4	-	9	1160	c.1027C>G	c.(1027-1029)Ctg>Gtg	p.L343V	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	343					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	AGGAAGCTCAGAGTGTTGTGG	0.527000													18	25					0	0	0.001523	0	0
ITGA3	3675	broad.mit.edu	37	17	48153727	48153727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48153727C>T	ENST00000320031.8	+	13	2042	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	ITGA3_ENST00000007722.7_Missense_Mutation_p.S571F|ITGA3_ENST00000544892.1_3'UTR	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	571					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ATCATCATCTCCATGAACTAC	0.637000													30	91					0	0	0.001512	0	0
IVL	3713	broad.mit.edu	37	1	152883961	152883961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152883961G>A	ENST00000368764.3	+	2	1752	c.1688G>A	c.(1687-1689)gGa>gAa	p.G563E	IVL_ENST00000392667.2_Missense_Mutation_p.G417E			P07476	INVO_HUMAN	involucrin	563					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCACAAAGGGAGAAGTATTG	0.582000													31	25					0	0	0.003271	0	0
CKM	1158	broad.mit.edu	37	19	45821172	45821172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45821172C>T	ENST00000221476.3	-	3	433	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	87	Phosphagen kinase N-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)	TCAAAGAGTTCCTTGAAAACT	0.562000													22	28					0	0	0.002780	0	0
HDAC9	9734	broad.mit.edu	37	7	18875176	18875176	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:18875176G>A	ENST00000406451.3	+	20	2694	c.2544G>A	c.(2542-2544)ggG>ggA	p.G848G	HDAC9_ENST00000441542.2_Silent_p.G851G|HDAC9_ENST00000401921.1_Silent_p.G807G|HDAC9_ENST00000432645.2_Silent_p.G848G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	848	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGATGAAGGGAACTTTTTCC	0.448000													18	25					0	0	0.004990	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751702	73751702	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:73751702G>A	ENST00000342056.2	+	3	931	c.533G>A	c.(532-534)cGa>cAa	p.R178Q	KCNQ5_ENST00000403813.2_Missense_Mutation_p.R178Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R178Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R178Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R178Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R178Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R178Q|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R178Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	178					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTCATCATTCGAATCTGGTCT	0.428000													73	110					0	0	0.003610	0	0
GPR133	283383	broad.mit.edu	37	12	131620581	131620581	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:131620581G>A	ENST00000261654.5	+	22	2826		c.e22-1		GPR133_ENST00000543617.1_Splice_Site|GPR133_ENST00000535015.1_Splice_Site|GPR133_ENST00000376682.4_Splice_Site|GPR133_ENST00000540207.1_Splice_Site	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTTCTCTCCAGGTTGACAGCC	0.612000													5	13					0	0	0.003080	0	0
GNRHR	2798	broad.mit.edu	37	4	68606325	68606325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:68606325C>T	ENST00000226413.4	-	3	884	c.860G>A	c.(859-861)gGa>gAa	p.G287E	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.R244R	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	287					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATACCAAATTCCTAGGACATA	0.403000													69	112					0	0	0.003610	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6820488	6820488	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:6820488G>A	ENST00000403107.1	+	13	1965	c.1578G>A	c.(1576-1578)gaG>gaA	p.E526E	RSPH10B2_ENST00000359718.3_Intron|RSPH10B2_ENST00000404077.1_Silent_p.E526E|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000297186.3_Silent_p.E526E|RSPH10B2_ENST00000433859.2_Silent_p.E526E					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TGATGACCGAGAACATTCGTC	0.373000													29	114					0	0	0.001485	0	0
MBD6	114785	broad.mit.edu	37	12	57919883	57919883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57919883G>A	ENST00000355673.3	+	6	1488	c.1132G>A	c.(1132-1134)Ggg>Agg	p.G378R	MBD6_ENST00000431731.2_Missense_Mutation_p.G378R	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	378	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ATTGCTAGAAGGGAGAGGCCC	0.622000													13	20					0	0	0.001855	0	0
DYNAP	284254	broad.mit.edu	37	18	52265100	52265100	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:52265100C>T	ENST00000321600.1	+	3	403	c.357C>T	c.(355-357)ctC>ctT	p.L119L	DYNAP_ENST00000585973.1_Silent_p.L67L	NM_173629.1	NP_775900.1			dynactin associated protein																		TGGCTTGTCTCTTAGCCTGTG	0.373000													37	56					0	0	0.002222	0	0
TPRKB	51002	broad.mit.edu	37	2	73957719	73957719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:73957719G>A	ENST00000318190.7	-	5	646	c.526C>T	c.(526-528)Cct>Tct	p.P176S	TPRKB_ENST00000409716.2_Missense_Mutation_p.P176S|TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000272424.5_Missense_Mutation_p.P137S			Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	137					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						ATTATTTCAGGAAGATTTTTC	0.318000													25	47					0	0	0.005443	0	0
CD276	80381	broad.mit.edu	37	15	73994885	73994885	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:73994885C>T	ENST00000318443.5	+	3	671	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CD276_ENST00000561213.1_Silent_p.F123F|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000564751.1_Silent_p.F123F|CD276_ENST00000318424.5_Silent_p.F123F	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	123	Ig-like V-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TCACCTGCTTCGTGAGCATCC	0.682000													9	19					0	0	0.004482	0	0
GRIN2C	2905	broad.mit.edu	37	17	72848613	72848613	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:72848613C>T	ENST00000293190.5	-	3	683	c.537G>A	c.(535-537)ctG>ctA	p.L179L	GRIN2C_ENST00000347612.4_Silent_p.L179L|GRIN2C_ENST00000578159.1_5'UTR	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	179					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GCACGCCCTCCAGGAAGAGCG	0.716000													9	4					0	0	0.000978	0	0
CLCA4	22802	broad.mit.edu	37	1	87040390	87040390	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87040390G>A	ENST00000370563.3	+	10	1677	c.1635G>A	c.(1633-1635)gtG>gtA	p.V545V	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	545						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)		ATTTCACAGTGGATGCAACTT	0.413000													26	61					0	0	0.001271	0	0
OR51A7	119687	broad.mit.edu	37	11	4929091	4929091	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4929091G>A	ENST00000359350.4	+	1	492	c.492G>A	c.(490-492)agG>agA	p.R164R	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCACCTTAAGGAGATTAAAAT	0.393000													30	46					0	0	0.001061	0	0
DNAH7	56171	broad.mit.edu	37	2	196602738	196602738	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196602738C>T	ENST00000312428.6	-	65	12082	c.11982G>A	c.(11980-11982)acG>acA	p.T3994T	DNAH7_ENST00000409063.1_Silent_p.T477T|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3994					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCACAAAATTCGTGGAATGGC	0.453000													16	25					0	0	0.004007	0	0
LRRC20	55222	broad.mit.edu	37	10	72061176	72061176	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:72061176G>A	ENST00000355790.4	-	5	966	c.489C>T	c.(487-489)atC>atT	p.I163I	LRRC20_ENST00000358141.2_Silent_p.I113I|LRRC20_ENST00000395011.1_Silent_p.I113I|LRRC20_ENST00000395010.1_Silent_p.I107I|LRRC20_ENST00000373224.1_Silent_p.I163I	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	163										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GCGGCGGGGCGATCACGCGCA	0.632000													50	37					0	0	0.003610	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66522027	66522027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:66522027C>T	ENST00000589228.1	+	7	810	c.682C>T	c.(682-684)Cga>Tga	p.R228*	PRKAR1A_ENST00000536854.2_Nonsense_Mutation_p.R228*|PRKAR1A_ENST00000586397.1_Nonsense_Mutation_p.R228*|PRKAR1A_ENST00000358598.2_Nonsense_Mutation_p.R228*|PRKAR1A_ENST00000392711.1_Nonsense_Mutation_p.R228*|PRKAR1A_ENST00000588188.2_Nonsense_Mutation_p.R228*	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	228					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GGGCATCGACCGAGACAGCTA	0.418000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				36	6					0	0	0.002836	0	0
GCM1	8521	broad.mit.edu	37	6	52993585	52993585	+	Silent	SNP	G	G	A	rs112673732		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:52993585G>A	ENST00000259803.7	-	6	941	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	244						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					ATTCCTCCCAGACCATAACTC	0.458000													24	36					0	0	0.005443	0	0
COL14A1	7373	broad.mit.edu	37	8	121174684	121174684	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121174684G>A	ENST00000297848.3	+	4	495	c.225G>A	c.(223-225)ctG>ctA	p.L75L	COL14A1_ENST00000537875.1_Silent_p.L75L|COL14A1_ENST00000309791.4_Silent_p.L75L|COL14A1_ENST00000247781.3_Silent_p.L75L|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	75	Fibronectin type-III 1.				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)			CTAACCAGCTGAATCTGCAGA	0.313000													52	47					0	0	0.003610	0	0
OR10X1	128367	broad.mit.edu	37	1	158548772	158548772	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158548772C>T	ENST00000368150.1	-	1	917	c.918G>A	c.(916-918)agG>agA	p.R306R		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TGTCCTTATTCCTCAGGCTGA	0.418000													64	61					0	0	0.003610	0	0
CABP2	51475	broad.mit.edu	37	11	67288549	67288549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:67288549G>A	ENST00000294288.4	-	4	395	c.326C>T	c.(325-327)aCc>aTc	p.T109I	CABP2_ENST00000353903.5_Missense_Mutation_p.T52I	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	109	EF-hand 1.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GTAGCCCAGGGTCCGCATGCA	0.632000													27	43					0	0	0.001271	0	0
MXRA5	25878	broad.mit.edu	37	X	3229200	3229200	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:3229200G>A	ENST00000217939.6	-	7	7198	c.7044C>T	c.(7042-7044)atC>atT	p.I2348I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2348	Ig-like C2-type 8.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTTGTTCCGGATGGTGGCGG	0.557000													49	8					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9088509	9088509	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9088509G>A	ENST00000397910.4	-	1	3509	c.3306C>T	c.(3304-3306)ttC>ttT	p.F1102F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1102	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						ATGTGTCAACGAATTGGCTTG	0.428000													47	51					0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196825573	196825573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196825573G>A	ENST00000312428.6	-	18	2402	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	768	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATAAAGACGAAGATAAGGG	0.403000													46	48					0	0	0.003214	0	0
GPR112	139378	broad.mit.edu	37	X	135494424	135494424	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:135494424G>A	ENST00000394143.1	+	24	9227	c.8935_splice	c.e24-1	p.G2979_splice	GPR112_ENST00000394141.1_Splice_Site_p.G2774_splice|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Splice_Site_p.G2774_splice|GPR112_ENST00000370652.1_Splice_Site_p.G2979_splice	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2979					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTGGCTTAGGATTCTTCATT	0.468000													22	4					0	0	0.002299	0	0
TRIM47	91107	broad.mit.edu	37	17	73872106	73872106	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:73872106G>A	ENST00000254816.2	-	4	1103	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	TRIM47_ENST00000587339.1_Silent_p.F121F	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	359						cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGATTTGGTGAAGCTGAGCT	0.632000													42	12					0	0	0.003610	0	0
DPYS	1807	broad.mit.edu	37	8	105405031	105405031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105405031C>T	ENST00000351513.2	-	8	1556	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	475					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTTTATTCGTTTGTAAAT	0.473000													52	154					0	0	0.003610	0	0
STON1	11037	broad.mit.edu	37	2	48808301	48808301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:48808301C>T	ENST00000309835.3	+	1	539	c.529C>T	c.(529-531)Cga>Tga	p.R177*	STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000394754.1_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.R177*|STON1_ENST00000404752.1_Nonsense_Mutation_p.R177*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.R177*|STON1_ENST00000406226.1_Nonsense_Mutation_p.R177*					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGTATTTTCGAGAGGACTG	0.438000													19	47					0	0	0.001216	0	0
RGS21	431704	broad.mit.edu	37	1	192335174	192335174	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:192335174T>A	ENST00000417209.2	+	5	553	c.379T>A	c.(379-381)Ttt>Att	p.F127I		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	127	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTTCCCTCGATTTCTGAAGTC	0.358000													34	63					0	0	0.003755	0	0
ZEB1	6935	broad.mit.edu	37	10	31810519	31810519	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31810519C>T	ENST00000446923.2	+	7	2599	c.2208C>T	c.(2206-2208)atC>atT	p.I736I	ZEB1_ENST00000320985.10_Silent_p.I752I|ZEB1_ENST00000542815.3_Silent_p.I685I|ZEB1_ENST00000560721.2_Silent_p.I732I|ZEB1_ENST00000361642.5_Silent_p.I753I|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	752					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)				GGTCAACTATCACTAGTGTTT	0.423000													17	23					0	0	0.004990	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317386	30317386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:30317386C>T	ENST00000375377.1	-	3	1792	c.1691G>A	c.(1690-1692)gGg>gAg	p.G564E		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	564										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGTCCGAGTCCCAGTTTGGAA	0.458000													43	63					0	0	0.002522	0	0
PXDNL	137902	broad.mit.edu	37	8	52321172	52321172	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:52321172G>A	ENST00000356297.4	-	17	3112	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	PXDNL_ENST00000543296.1_Silent_p.I1004I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1004					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCGCGCCCACGATCTTCCTGG	0.622000													12	3					0	0	0.001368	0	0
BCL9	607	broad.mit.edu	37	1	147086262	147086262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:147086262C>T	ENST00000234739.3	+	6	1147	c.407C>T	c.(406-408)tCc>tTc	p.S136F	BCL9_ENST00000473292.1_3'UTR	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	136					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCCCAGGATTCCCAGCACACA	0.463000			T	"""IGH@, IGL@"""	B-ALL								29	24					0	0	0.001786	0	0
POTEC	388468	broad.mit.edu	37	18	14542981	14542981	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:14542981C>T	ENST00000358970.5	-	1	164	c.165G>A	c.(163-165)aaG>aaA	p.K55K	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	55										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCTGAGCATCTTCATAAAGG	0.587000													58	56					0	0	0.003610	0	0
FUT6	2528	broad.mit.edu	37	19	5831614	5831614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:5831614C>T	ENST00000318336.4	-	3	2159	c.965G>A	c.(964-966)cGg>cAg	p.R322Q	FUT6_ENST00000524754.1_Missense_Mutation_p.R322Q|FUT6_ENST00000527106.1_Missense_Mutation_p.R322Q|FUT6_ENST00000592563.1_Missense_Mutation_p.R322Q|FUT6_ENST00000286955.5_Missense_Mutation_p.R322Q	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	322					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CAGCGTCTCCCGCCAGCGAAA	0.632000													20	29					0	0	0.003954	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506184	27506184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:27506184G>A	ENST00000356183.4	-	16	2693	c.2678C>T	c.(2677-2679)cCa>cTa	p.P893L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.P893L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	893						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTGTGGACTGGGATTGGGGG	0.567000													9	16					0	0	0.000673	0	0
MARCH10	162333	broad.mit.edu	37	17	60814521	60814521	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:60814521G>A	ENST00000544856.2	-	7	1083	c.705C>T	c.(703-705)tcC>tcT	p.S235S	RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Silent_p.S236S|MARCH10_ENST00000583600.1_Silent_p.S274S|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Silent_p.S236S			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	236							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGAAGGCCTGGGACAGGGCTG	0.537000													82	20					0	0	0.003610	0	0
NCOA3	8202	broad.mit.edu	37	20	46281232	46281232	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:46281232C>T	ENST00000372004.3	+	21	4233	c.4017C>T	c.(4015-4017)tcC>tcT	p.S1339S	NCOA3_ENST00000371997.3_Silent_p.S1334S|NCOA3_ENST00000371998.3_Silent_p.S1343S|NCOA3_ENST00000341724.6_Silent_p.S1269S	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1343					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TGGGTCCCTCCCAGAATCCCA	0.483000													13	44					0	0	0.002450	0	0
CAPN7	23473	broad.mit.edu	37	3	15269432	15269432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:15269432C>T	ENST00000253693.2	+	7	1065	c.812C>T	c.(811-813)cCt>cTt	p.P271L		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	271	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						ACCAACAATCCTACAATGATA	0.338000													16	25					0	0	0.004990	0	0
MYOM1	8736	broad.mit.edu	37	18	3134818	3134818	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:3134818G>A	ENST00000400569.3	-	16	2547	c.2214C>T	c.(2212-2214)atC>atT	p.I738I	MYOM1_ENST00000356443.4_Silent_p.I738I|MYOM1_ENST00000261606.7_Silent_p.I738I			P52179	MYOM1_HUMAN	myomesin 1	738						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAGCCTTGGGGATATCTGAGA	0.433000													13	42					0	0	0.003163	0	0
ITGB1	3688	broad.mit.edu	37	10	33190554	33190554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:33190554G>A	ENST00000396033.2	-	16	2476	c.2341C>T	c.(2341-2343)Cct>Tct	p.P781S	ITGB1_ENST00000423113.1_3'UTR|ITGB1_ENST00000302278.3_Missense_Mutation_p.P781S|ITGB1_ENST00000374956.4_Silent_p.I819I	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	781					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)				TTATAAATAGGATTTTCACCC	0.338000													34	38					0	0	0.002852	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164227	150164227	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150164227C>T	ENST00000307271.3	+	2	1015	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	147						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGCAAGATTTCATTGAAAAAA	0.448000													31	32					0	0	0.001786	0	0
CDYL	9425	broad.mit.edu	37	6	4943786	4943786	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:4943786C>T	ENST00000328908.5	+	7	1421	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Silent_p.F376F|CDYL_ENST00000343762.5_Silent_p.F244F|CDYL_ENST00000449732.2_Silent_p.F244F			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	430					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.F430F(3)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TTAGAAACTTCGTGAATACTT	0.338000													33	37					0	0	0.002836	0	0
CYP3A7	1551	broad.mit.edu	37	7	99317939	99317939	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99317939C>T	ENST00000336374.2	-	4	317	c.315G>A	c.(313-315)cgG>cgA	p.R105R		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	105					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TGCTTACCCTCCGGTTTGTGA	0.323000													107	21					0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3240724	3240724	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:3240724A>G	ENST00000217939.6	-	5	3156	c.3002T>C	c.(3001-3003)cTt>cCt	p.L1001P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1001						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTGGAGTAAGGTGTGCAAA	0.463000													39	5					0	0	0.002852	0	0
KRT71	112802	broad.mit.edu	37	12	52940176	52940176	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52940176C>T	ENST00000267119.5	-	7	1288	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	407	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CGCGCCAGCTCCTCCTTGGCC	0.652000													12	22					0	0	0.001368	0	0
HAVCR1	26762	broad.mit.edu	37	5	156476147	156476147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:156476147G>A	ENST00000339252.3	-	4	1215	c.683C>T	c.(682-684)tCa>tTa	p.S228L	HAVCR1_ENST00000522693.1_Missense_Mutation_p.S228L|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S228L|HAVCR1_ENST00000425854.1_Missense_Mutation_p.S228L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S228L	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	223					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGAAGATGGTGAAGTGGCTAC	0.438000													83	30					0	0	0.003610	0	0
MYT1	4661	broad.mit.edu	37	20	62843415	62843415	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62843415G>A	ENST00000536311.1	+	9	1805	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	MYT1_ENST00000328439.1_Missense_Mutation_p.E481K|MYT1_ENST00000360149.4_Missense_Mutation_p.E183K			Q01538	MYT1_HUMAN	myelin transcription factor 1	481					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCCATGCATGAGAACGTGCT	0.607000													98	59					0	0	0.003610	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039520	55039520	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:55039520G>A	ENST00000370862.3	+	1	471	c.135G>A	c.(133-135)agG>agA	p.R45R		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	45					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)			ACCTGTGGAGGGAATACCTGC	0.537000													24	35					0	0	0.002299	0	0
CALCRL	10203	broad.mit.edu	37	2	188216659	188216659	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:188216659G>A	ENST00000409998.1	-	15	1939	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	CALCRL_ENST00000410068.1_Silent_p.F386F|CALCRL_ENST00000392370.3_Silent_p.F386F|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	386						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CTCCATTAAAGAAGCAGAAAA	0.269000													19	16					0	0	0.002780	0	0
XIRP1	165904	broad.mit.edu	37	3	39230253	39230253	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:39230253C>T	ENST00000340369.3	-	2	912	c.684G>A	c.(682-684)gtG>gtA	p.V228V	XIRP1_ENST00000396251.1_Silent_p.V228V|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	228							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGTCTTTTTCACATCACCCT	0.632000													20	57					0	0	0.001523	0	0
IGHG3	3502	broad.mit.edu	37	14	106237553	106237553	+	RNA	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:106237553G>T	ENST00000390551.2	-	0	189																											GCTGCTGAGGGAGTAGAGTCC	0.612000													35	9					2.49991e-28	4.7101e-28	0.003271	1	0
SLC2A14	144195	broad.mit.edu	37	12	7982503	7982503	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7982503G>A	ENST00000543909.1	-	10	1200	c.441C>T	c.(439-441)ggC>ggT	p.G147G	SLC2A14_ENST00000535295.1_Silent_p.G38G|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Silent_p.G124G|SLC2A14_ENST00000539924.1_Silent_p.G162G|SLC2A14_ENST00000542546.1_Silent_p.G38G|SLC2A14_ENST00000396589.2_Silent_p.G147G|SLC2A14_ENST00000340749.5_Silent_p.G124G			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	147					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TAACCAAGCGGCCCAGGATCA	0.532000													20	34					0	0	0.001882	0	0
AFM	173	broad.mit.edu	37	4	74354393	74354393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:74354393G>A	ENST00000226355.3	+	7	853	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	254	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAATTTAAGGAGCTTATTTC	0.363000													25	48					0	0	0.004656	0	0
FETUB	26998	broad.mit.edu	37	3	186370278	186370278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:186370278G>A	ENST00000265029.3	+	7	1108	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	FETUB_ENST00000382136.3_Missense_Mutation_p.G299E|FETUB_ENST00000450521.1_Missense_Mutation_p.G336E|FETUB_ENST00000382134.3_Missense_Mutation_p.G271E|FETUB_ENST00000539949.1_Missense_Mutation_p.G188E|RP11-134F2.2_ENST00000455926.1_RNA|RP11-134F2.2_ENST00000428501.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	336						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AATCCCCAGGGAGAAACCCTG	0.517000													27	62					0	0	0.002836	0	0
DSCAM	1826	broad.mit.edu	37	21	41648155	41648155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41648155C>T	ENST00000400454.1	-	11	2702	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	742	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AACTTGGATTCGGCCATTTAG	0.512000													12	27					0	0	0.000978	0	0
CDH13	1012	broad.mit.edu	37	16	83065665	83065665	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:83065665A>G	ENST00000566620.1	+	3	498	c.208A>G	c.(208-210)Agc>Ggc	p.S70G	CDH13_ENST00000565636.1_Missense_Mutation_p.S70G|CDH13_ENST00000431540.3_Missense_Mutation_p.S70G|CDH13_ENST00000428848.3_Missense_Mutation_p.S70G|CDH13_ENST00000268613.10_Missense_Mutation_p.S117G|CDH13_ENST00000446376.2_Missense_Mutation_p.S70G|CDH13_ENST00000569454.1_3'UTR	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	70					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGAGGTCTCGAGCCCATACTT	0.512000													7	6					0	0	0.003080	0	0
TGM3	7053	broad.mit.edu	37	20	2293571	2293571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:2293571C>T	ENST00000381458.5	+	5	631	c.568C>T	c.(568-570)Ctc>Ttc	p.L190F		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	190					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CAGCATCTGCCTCTCAATCTT	0.473000													42	34					0	0	0.003610	0	0
CCDC141	285025	broad.mit.edu	37	2	179701823	179701823	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179701823G>A	ENST00000420890.2	-	23	4240	c.4123C>T	c.(4123-4125)Caa>Taa	p.Q1375*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.Q800*|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	800							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GTGCCTGATTGAAACCTGAGG	0.488000													15	23					0	0	0.002450	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996005	57996005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57996005C>T	ENST00000316770.2	-	1	385	c.343G>A	c.(343-345)Gac>Aac	p.D115N		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGGAAACAGTCCGTGCTGCCG	0.557000													15	25					0	0	0.004990	0	0
ABHD16A	7920	broad.mit.edu	37	6	31657875	31657875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:31657875G>A	ENST00000375842.4	-	11	1266	c.280C>T	c.(280-282)Cca>Tca	p.P94S	ABHD16A_ENST00000440843.2_Missense_Mutation_p.P280S|ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000395952.3_Missense_Mutation_p.P313S|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	313						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GCAAAGCCTGGATGATTCCAG	0.552000													86	124					0	0	0.003610	0	0
MRE11A	4361	broad.mit.edu	37	11	94163119	94163119	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:94163119G>A	ENST00000323929.3	-	19	2250	c.2028C>T	c.(2026-2028)tcC>tcT	p.S676S	MRE11A_ENST00000323977.3_Silent_p.S648S|MRE11A_ENST00000407439.3_Silent_p.S679S|MRE11A_ENST00000393241.4_Silent_p.S675S	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	676					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTGACTCTGGGACATGATTT	0.313000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				15	23					0	0	0.004990	0	0
PER2	8864	broad.mit.edu	37	2	239167210	239167210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:239167210G>A	ENST00000254657.3	-	15	1982	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	568	CSNK1E binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAACTCCTCGGGGAAGCTGAC	0.547000													15	23					0	0	0.002450	0	0
SSPO	23145	broad.mit.edu	37	7	149474909	149474909	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:149474909G>A	ENST00000378016.2	+	0	708							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)			TAACACCCGGGGACCGCTGCC	0.687000													3	3					0	0	0.004672	0	0
FLT4	2324	broad.mit.edu	37	5	180051016	180051016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:180051016C>T	ENST00000261937.6	-	11	1545	c.1467G>A	c.(1465-1467)tgG>tgA	p.W489*	FLT4_ENST00000393347.3_Nonsense_Mutation_p.W489*|FLT4_ENST00000502649.1_Nonsense_Mutation_p.W489*|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	489	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCACCGCCCTCCAGTCACGGC	0.642000													17	6					0	0	0.004990	0	0
CRB1	23418	broad.mit.edu	37	1	197391065	197391065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:197391065G>A	ENST00000367397.1	+	2	1108	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	CRB1_ENST00000535699.1_Missense_Mutation_p.E634K|CRB1_ENST00000367400.3_Missense_Mutation_p.E703K|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000367399.2_Missense_Mutation_p.E591K|CRB1_ENST00000544212.1_Missense_Mutation_p.E184K|CRB1_ENST00000538660.1_Missense_Mutation_p.E703K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	703	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGGCCCTATGAAGGCCCCAA	0.522000													26	24					0	0	0.001061	0	0
CDH9	1007	broad.mit.edu	37	5	26889965	26889965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:26889965C>T	ENST00000231021.4	-	9	1664	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	498	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTGCATTTTCACAAACAAAT	0.313000													9	49					0	0	0.004482	0	0
SLC22A25	387601	broad.mit.edu	37	11	62931311	62931311	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62931311C>T	ENST00000306494.6	-	9	1628	c.1629G>A	c.(1627-1629)agG>agA	p.R543R	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	543					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GCACAGAGCTCCTCTGAGGGG	0.498000													39	45					0	0	0.002222	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136302973	136302973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:136302973C>T	ENST00000371929.3	+	13	1984	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R483W|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R514W|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.R186W|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	514					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AAGTGGCCCCCGGGAGGACGG	0.632000													59	18					0	0	0.003610	0	0
KLHL26	55295	broad.mit.edu	37	19	18779140	18779140	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:18779140C>T	ENST00000300976.4	+	3	1023	c.933C>T	c.(931-933)ctC>ctT	p.L311L	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	311										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCCCTCGCTCGTCACCTTCG	0.677000													15	22					0	0	0.004007	0	0
TEKT1	83659	broad.mit.edu	37	17	6704101	6704101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:6704101C>T	ENST00000338694.2	-	7	1143	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	TEKT1_ENST00000535086.1_Missense_Mutation_p.M192I	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	338					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				GAACCTCCTTCATTAGCCTAT	0.562000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	107	25					0	0	0.003610	0	0
SLC1A6	6511	broad.mit.edu	37	19	15063782	15063782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15063782G>A	ENST00000430939.2	-	8	1394	c.1265C>T	c.(1264-1266)cCc>cTc	p.P422L	SLC1A6_ENST00000221742.3_Missense_Mutation_p.P486L|SLC1A6_ENST00000600144.1_Missense_Mutation_p.P408L			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	486					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GTCTTCCGTGGGCAAGCCGAC	0.612000													44	48					0	0	0.002522	0	0
PLXNA4	91584	broad.mit.edu	37	7	131853305	131853305	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:131853305C>T	ENST00000359827.3	-	22	5006	c.4044G>A	c.(4042-4044)gtG>gtA	p.V1348V	PLXNA4_ENST00000321063.4_Silent_p.V1348V			Q9HCM2	PLXA4_HUMAN	plexin A4	1348						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGCCTTTCTCCACACGCTCCT	0.607000													21	11					0	0	0.002299	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200153	26200153	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:26200153A>G	ENST00000359985.1	+	1	406	c.367A>G	c.(367-369)Acc>Gcc	p.T123A		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	123					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CACCAAGTACACCAGCTCTAA	0.522000													16	18					0	0	0.004007	0	0
PARD3	56288	broad.mit.edu	37	10	34673118	34673118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:34673118G>A	ENST00000374789.3	-	8	1280	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	PARD3_ENST00000374788.3_Missense_Mutation_p.R319C|PARD3_ENST00000374776.1_Missense_Mutation_p.R319C|PARD3_ENST00000545260.1_Missense_Mutation_p.R275C|PARD3_ENST00000544292.1_Missense_Mutation_p.R49C|PARD3_ENST00000340077.5_Missense_Mutation_p.R319C|PARD3_ENST00000545693.1_Missense_Mutation_p.R319C|PARD3_ENST00000374773.1_Missense_Mutation_p.R319C|PARD3_ENST00000346874.4_Missense_Mutation_p.R319C|PARD3_ENST00000350537.4_Missense_Mutation_p.R319C|PARD3_ENST00000374794.3_Missense_Mutation_p.R275C|PARD3_ENST00000374790.3_Missense_Mutation_p.R275C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	319	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.R319C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATTCTCACGAAAAAGATTT	0.378000													34	43					0	0	0.003271	0	0
NAALADL2	254827	broad.mit.edu	37	3	175473133	175473133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:175473133C>T	ENST00000454872.1	+	13	2244	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	706					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATCCGCATCCGGATGCTGAA	0.478000													6	8					0	0	0.001168	0	0
TOP1	7150	broad.mit.edu	37	20	39721132	39721132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:39721132C>T	ENST00000361337.2	+	9	885	c.635C>T	c.(634-636)cCt>cTt	p.P212L		NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	212					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GAGCGCTATCCTGAAGGCATC	0.413000			T	NUP98	AML*								60	23					0	0	0.003610	0	0
PMCH	5367	broad.mit.edu	37	12	102590870	102590870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:102590870C>T	ENST00000329406.4	-	2	403	c.329G>A	c.(328-330)gGa>gAa	p.G110E	PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000327680.2_3'UTR|PARPBP_ENST00000378128.3_3'UTR	NM_002674.2	NP_002665.2	P20382	MCH_HUMAN	pro-melanin-concentrating hormone	110					cell differentiation|neuropeptide signaling pathway|spermatogenesis|synaptic transmission		melanin-concentrating hormone activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	6						AGCTACAGATCCTTTTAGTGC	0.368000													24	38					0	0	0.003330	0	0
ETV7	51513	broad.mit.edu	37	6	36334427	36334427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:36334427G>A	ENST00000373738.1	-	7	1701	c.856C>T	c.(856-858)Ccg>Tcg	p.P286S	ETV7_ENST00000373737.4_Missense_Mutation_p.P264S|ETV7_ENST00000538992.1_Missense_Mutation_p.P190S|ETV7_ENST00000340181.4_Missense_Mutation_p.P341S|ETV7_ENST00000339796.5_Intron	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN	ets variant 7	341					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GCCCCTCACGGAGAGATTTCT	0.617000													26	36					0	0	0.001512	0	0
MECOM	2122	broad.mit.edu	37	3	168812960	168812960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:168812960C>T	ENST00000464456.1	-	11	3532	c.2332G>A	c.(2332-2334)Gag>Aag	p.E778K	MECOM_ENST00000472280.1_Missense_Mutation_p.E788K|MECOM_ENST00000468789.1_Missense_Mutation_p.E787K|MECOM_ENST00000494292.1_Missense_Mutation_p.E966K|MECOM_ENST00000433243.2_Missense_Mutation_p.E788K|MECOM_ENST00000460814.1_Missense_Mutation_p.E778K|MECOM_ENST00000392736.3_Missense_Mutation_p.E787K|MECOM_ENST00000264674.3_Missense_Mutation_p.E852K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AATGGCTTCTCTTTATTGTGG	0.353000													31	24					0	0	0.002445	0	0
CAPN11	11131	broad.mit.edu	37	6	44144011	44144011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:44144011G>A	ENST00000398776.1	+	9	975	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	CAPN11_ENST00000542245.1_Missense_Mutation_p.E313K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	313	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGCAAAATGGAAACACTGAT	0.587000													23	26					0	0	0.003330	0	0
ALK	238	broad.mit.edu	37	2	29416108	29416108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29416108C>T	ENST00000389048.3	-	29	5751	c.4845G>A	c.(4843-4845)atG>atA	p.M1615I	ALK_ENST00000431873.1_Missense_Mutation_p.M445I	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1615					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CAGGCTGGTTCATGCTATTCT	0.542000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				18	28					0	0	0.006122	0	0
FOXP4	116113	broad.mit.edu	37	6	41558079	41558079	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:41558079C>T	ENST00000373060.1	+	12	1886	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	FOXP4_ENST00000409208.1_Silent_p.I464I|FOXP4_ENST00000373057.3_Silent_p.I474I|FOXP4_ENST00000373063.3_Silent_p.I463I|FOXP4_ENST00000307972.4_Silent_p.I476I	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	476					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTCCCTCATCCGCCAGGTGA	0.667000													28	41					0	0	0.002836	0	0
XIST	7503	broad.mit.edu	37	X	73050937	73050937	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73050937C>T	ENST00000429829.1	-	0	11745					NR_001564.2																						ACTTTATCTTCCTATCTGGGA	0.443000													7	6					0	0	0.004482	0	0
ANAPC1	64682	broad.mit.edu	37	2	112614445	112614445	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:112614445C>T	ENST00000341068.3	-	12	2149	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	459					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TATCATTACTCTCTtgaaact	0.353000													7	66					0	0	0.004482	0	0
CYLC1	1538	broad.mit.edu	37	X	83128069	83128069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:83128069C>T	ENST00000329312.4	+	4	390	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	118					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TATAAAAAGTCCAAAGATGAA	0.373000													12	1					0	0	0.000978	0	0
CWH43	80157	broad.mit.edu	37	4	48990612	48990612	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:48990612C>T	ENST00000226432.4	+	2	345	c.162C>T	c.(160-162)ttC>ttT	p.F54F	CWH43_ENST00000513409.1_Silent_p.F27F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	54					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CTCCAATATTCCTAACAATTA	0.368000													20	28					0	0	0.000958	0	0
LRRC7	57554	broad.mit.edu	37	1	70226019	70226019	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:70226019C>T	ENST00000310961.5	+	4	565	c.147C>T	c.(145-147)ttC>ttT	p.F49F	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Silent_p.F82F|LRRC7_ENST00000035383.5_Silent_p.F44F			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	44						centrosome|focal adhesion|nucleolus	protein binding	p.F44F(1)		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						TCTTTAACTTCGAACGAACAT	0.393000													14	23					0	0	0.003163	0	0
CYP11B2	1585	broad.mit.edu	37	8	143993405	143993405	+	Silent	SNP	C	C	T	rs141179680		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:143993405C>T	ENST00000323110.2	-	9	1505	c.1503G>A	c.(1501-1503)gcG>gcA	p.A501A		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	501					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ACTAGTTAATCGCTCTGAAAG	0.557000									Familial Hyperaldosteronism type I				23	56					0	0	0.002780	0	0
ACP1	52	broad.mit.edu	37	2	277050	277050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:277050C>T	ENST00000272067.6	+	5	460	c.364C>T	c.(364-366)Cca>Tca	p.P122S	ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000272065.5_Missense_Mutation_p.P122S	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	122						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		GAGCTATGATCCACAAAAACA	0.308000													19	40					0	0	0.001882	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377233	138377233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:138377233C>T	ENST00000356818.2	+	4	1426	c.877C>T	c.(877-879)Ccc>Tcc	p.P293S	PPP1R26_ENST00000605286.1_Missense_Mutation_p.P293S|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Missense_Mutation_p.P293S|PPP1R26_ENST00000401470.3_Missense_Mutation_p.P293S|PPP1R26_ENST00000605660.1_Missense_Mutation_p.P293S	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	293						nucleolus	protein binding										CCGCAAACCTCCCCGGTTAGC	0.617000													76	16					0	0	0.003610	0	0
PTPN22	26191	broad.mit.edu	37	1	114380911	114380911	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:114380911G>T	ENST00000359785.5	-	13	1246	c.1111C>A	c.(1111-1113)Cct>Act	p.P371T	PTPN22_ENST00000525799.1_Missense_Mutation_p.P244T|PTPN22_ENST00000538253.1_Missense_Mutation_p.P127T|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.P316T|PTPN22_ENST00000420377.2_Missense_Mutation_p.P371T	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	371					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTTAGCAGGGTGCAAAACT	0.358000													43	33					7.63091e-17	1.43291e-16	0.001706	1	0
CTIF	9811	broad.mit.edu	37	18	46385731	46385731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:46385731G>A	ENST00000256413.3	+	12	1893	c.1598G>A	c.(1597-1599)cGg>cAg	p.R533Q	CTIF_ENST00000382998.4_Missense_Mutation_p.R535Q	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	533	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						AGTACAGGCCGGCTGCTGGAG	0.632000													34	39					0	0	0.004878	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7682509	7682509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:7682509G>A	ENST00000446248.2	+	18	3588	c.3487G>A	c.(3487-3489)Ggc>Agc	p.G1163S	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.G1136S	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	1136	CKK.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CTGCCTGGCGGGCAAGGTGAA	0.607000													12	16					0	0	0.000978	0	0
ROR1	4919	broad.mit.edu	37	1	64643921	64643921	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:64643921C>T	ENST00000371079.1	+	9	2572	c.2197C>T	c.(2197-2199)Cct>Tct	p.P733S	ROR1_ENST00000545203.1_Missense_Mutation_p.P184S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	733	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAATGAGATTCCTTCTAGGAG	0.498000													28	35					0	0	0.002445	0	0
ANPEP	290	broad.mit.edu	37	15	90349337	90349337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:90349337C>T	ENST00000300060.6	-	2	791	c.478G>A	c.(478-480)Gag>Aag	p.E160K		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	160	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ACCAGGTACTCGGTGGGCTCC	0.632000													21	29					0	0	0.004656	0	0
MYH3	4621	broad.mit.edu	37	17	10546172	10546172	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10546172G>A	ENST00000583535.1	-	15	1639	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L	MYH3_ENST00000226209.7_Silent_p.L518L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	518	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CAGGCAGCCAGGTCCATCCCG	0.498000													49	12					0	0	0.003610	0	0
CHML	1122	broad.mit.edu	37	1	241797474	241797474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:241797474G>A	ENST00000366553.1	-	1	1758	c.1595C>T	c.(1594-1596)cCg>cTg	p.P532L	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	532					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.P532L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTCAGTATACGGAGTGAATAA	0.383000													16	55					0	0	0.006122	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728408	50728408	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:50728408G>A	ENST00000449103.1	-	3	746	c.606C>T	c.(604-606)gaC>gaT	p.D202D	PLXNB2_ENST00000359337.4_Silent_p.D202D			O15031	PLXB2_HUMAN	plexin B2	202	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGTGGCGTGGTCCGTGTAGG	0.602000													15	20					0	0	0.004007	0	0
GALNT6	11226	broad.mit.edu	37	12	51773391	51773391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:51773391C>T	ENST00000543196.2	-	2	380	c.175G>A	c.(175-177)Gag>Aag	p.E59K	GALNT6_ENST00000356317.3_Missense_Mutation_p.E59K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	59					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCATGGCCTCCAGCATGAGG	0.572000													23	51					0	0	0.003954	0	0
PTPRE	5791	broad.mit.edu	37	10	129869087	129869087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:129869087C>T	ENST00000254667.3	+	15	1588	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	PTPRE_ENST00000306042.5_Missense_Mutation_p.R379W|PTPRE_ENST00000419012.2_Missense_Mutation_p.R437W	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	437	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.R437W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GACAAATGTCCGGATCATGAA	0.522000													4	23					0	0	0.000602	0	0
NAAA	27163	broad.mit.edu	37	4	76840991	76840991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:76840991G>A	ENST00000505594.1	-	7	928	c.737C>T	c.(736-738)tCc>tTc	p.S246F	NAAA_ENST00000399497.3_Intron|NAAA_ENST00000511606.1_Intron|NAAA_ENST00000507956.1_Intron|NAAA_ENST00000286733.4_Intron			Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	0					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AGATTTCACGGAGTTTTTCAT	0.398000													11	17					0	0	0.000673	0	0
UNC79	57578	broad.mit.edu	37	14	94046624	94046624	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:94046624G>C	ENST00000553484.1	+	19	2717	c.2563G>C	c.(2563-2565)Gca>Cca	p.A855P	UNC79_ENST00000393151.2_Missense_Mutation_p.A855P|UNC79_ENST00000256339.4_Missense_Mutation_p.A678P|UNC79_ENST00000555664.1_Missense_Mutation_p.A855P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	855						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGACGAAAAAGCAATCGAGTG	0.473000													61	9					0	0	0.003610	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841541	100841541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100841541G>A	ENST00000223114.4	-	5	765	c.599C>T	c.(598-600)tCa>tTa	p.S200L	MOGAT3_ENST00000379423.3_Missense_Mutation_p.S200L|MOGAT3_ENST00000440203.2_Missense_Mutation_p.S200L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	200					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CCCGGGGACTGAATACAGGGC	0.672000													40	4					0	0	0.002852	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73973312	73973312	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:73973312C>T	ENST00000476977.1	+	21	3920	c.2229C>T	c.(2227-2229)ttC>ttT	p.F743F	GTF2IRD1_ENST00000265755.3_Silent_p.F758F|GTF2IRD1_ENST00000424337.2_Silent_p.F743F|GTF2IRD1_ENST00000455841.2_Silent_p.F775F|GTF2IRD1_ENST00000489094.1_3'UTR			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	758						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCTGTACCTTCGGCTCCCAGA	0.587000													27	30					0	0	0.002096	0	0
TMEM8A	58986	broad.mit.edu	37	16	426584	426584	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:426584G>A	ENST00000431232.2	-	5	1024	c.864C>T	c.(862-864)ccC>ccT	p.P288P	TMEM8A_ENST00000250930.3_Silent_p.P95P	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	288					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CTGTCCCGAGGGGCCCCACCA	0.692000													8	14					0	0	0.000443	0	0
AIM1	202	broad.mit.edu	37	6	106987353	106987353	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:106987353C>T	ENST00000369066.3	+	7	4057	c.3570C>T	c.(3568-3570)tcC>tcT	p.S1190S		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1190	Beta/gamma crystallin 'Greek key' 4.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTGACTTGTCCTTCTGGGATA	0.443000													42	62					0	0	0.001951	0	0
SNHG14	104472715	broad.mit.edu	37	15	25479460	25479460	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:25479460G>A	ENST00000453082.2	+	0	1891				SNORD115-35_ENST00000365122.1_RNA	NR_003343.1																						TGCTCAATAGGATTACACTGA	0.507000													57	89					0	0	0.003610	0	0
GPR83	10888	broad.mit.edu	37	11	94113903	94113903	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:94113903G>A	ENST00000243673.2	-	4	855	c.684C>T	c.(682-684)ttC>ttT	p.F228F	GPR83_ENST00000539203.2_Silent_p.F186F	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	228						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTGGCTCAGGGAAGTCTGGCA	0.572000													17	26					0	0	0.001523	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156948062	156948062	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156948062G>A	ENST00000368194.3	-	6	1483	c.444C>T	c.(442-444)atC>atT	p.I148I	ARHGEF11_ENST00000361409.2_Silent_p.I148I	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	148					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGGTGAGGGGATCACTGACG	0.582000													17	36					0	0	0.004007	0	0
SULF1	23213	broad.mit.edu	37	8	70517105	70517105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:70517105G>A	ENST00000260128.4	+	13	2032	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	SULF1_ENST00000458141.2_Missense_Mutation_p.E439K|SULF1_ENST00000402687.4_Missense_Mutation_p.E439K|SULF1_ENST00000419716.3_Missense_Mutation_p.E439K|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	439					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCCCAAATATGAACGGGTCAA	0.473000													81	41					0	0	0.003610	0	0
COL1A2	1278	broad.mit.edu	37	7	94052287	94052287	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:94052287G>A	ENST00000297268.6	+	40	2893	c.2422G>A	c.(2422-2424)Ggt>Agt	p.G808S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	808			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGCCCTCCTGGTCCCCCTGG	0.527000										HNSCC(75;0.22)			36	127					0	0	0.002222	0	0
SPATA19	219938	broad.mit.edu	37	11	133714482	133714482	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:133714482A>G	ENST00000299140.3	-	3	243	c.189T>C	c.(187-189)ccT>ccC	p.P63P	SPATA19_ENST00000532889.1_Silent_p.P63P	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	63					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CACCCTGGGAAGGGTGGTTGA	0.507000													17	39					0	0	0.001216	0	0
CCDC37	348807	broad.mit.edu	37	3	126142440	126142440	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:126142440G>C	ENST00000393425.1	+	13	1341	c.1242G>C	c.(1240-1242)aaG>aaC	p.K414N	CCDC37_ENST00000352312.1_Missense_Mutation_p.K413N|CCDC37_ENST00000505024.1_Missense_Mutation_p.K414N			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	413										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGACGGAGAAGACCCTGGAGG	0.612000													15	28					0	0	0.004990	0	0
CTBP2	1488	broad.mit.edu	37	10	126715606	126715606	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:126715606G>A	ENST00000309035.6	-	1	853	c.723C>T	c.(721-723)gcC>gcT	p.A241A	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	399					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		TGCCTTCGGGGGCAGCAGCTG	0.642000													23	29					0	0	0.002299	0	0
NRXN3	9369	broad.mit.edu	37	14	79117588	79117588	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:79117588C>T	ENST00000554719.1	+	3	512	c.21C>T	c.(19-21)ttC>ttT	p.F7F	NRXN3_ENST00000335750.5_Silent_p.F7F	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGACGACTTCTTCTATGTAG	0.522000													72	9					0	0	0.003610	0	0
IL22RA1	58985	broad.mit.edu	37	1	24448024	24448024	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:24448024G>A	ENST00000270800.1	-	7	1034	c.996C>T	c.(994-996)atC>atT	p.I332I		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	332						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GGAGGATGGAGATGTCTGGCT	0.632000													28	19					0	0	0.001786	0	0
SCN5A	6331	broad.mit.edu	37	3	38674533	38674533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38674533G>A	ENST00000413689.1	-	2	459	c.266C>T	c.(265-267)aCc>aTc	p.T89I	SCN5A_ENST00000455624.2_Missense_Mutation_p.T89I|SCN5A_ENST00000414099.2_Missense_Mutation_p.T89I|SCN5A_ENST00000451551.2_Missense_Mutation_p.T89I|SCN5A_ENST00000333535.4_Missense_Mutation_p.T89I|SCN5A_ENST00000450102.2_Missense_Mutation_p.T89I|SCN5A_ENST00000423572.2_Missense_Mutation_p.T89I|SCN5A_ENST00000443581.1_Missense_Mutation_p.T89I|SCN5A_ENST00000425664.1_Missense_Mutation_p.T89I|SCN5A_ENST00000449557.2_Missense_Mutation_p.T89I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	89					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CACCTTTTGGGTGCTATAGAA	0.592000													13	29					0	0	0.000958	0	0
TTN	7273	broad.mit.edu	37	2	179599324	179599324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179599324G>A	ENST00000589042.1	-	52	15451	c.15227C>T	c.(15226-15228)tCt>tTt	p.S5076F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S4759F|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S3832F|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4759	Ig-like 31.						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)			TTTGATGAAAGAAGGAGGTTC	0.383000													69	101					0	0	0.003610	0	0
RGL1	23179	broad.mit.edu	37	1	183711383	183711383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:183711383G>A	ENST00000304685.3	+	2	552	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RGL1_ENST00000367531.1_Missense_Mutation_p.E31K|RGL1_ENST00000536277.1_Missense_Mutation_p.E31K	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGGCTGGTGGAAGATCATGT	0.428000													38	33					0	0	0.001706	0	0
RP1	6101	broad.mit.edu	37	8	55537550	55537550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:55537550C>T	ENST00000220676.1	+	4	1256	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	370					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAGTTTTCCAGGAAGAAC	0.398000													35	24					0	0	0.002836	0	0
GPLD1	2822	broad.mit.edu	37	6	24467020	24467020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24467020G>A	ENST00000230036.1	-	10	819	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	237						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ACCAAAAACGGGGACTTTGTA	0.343000													17	25					0	0	0.001216	0	0
MIER2	54531	broad.mit.edu	37	19	307127	307127	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:307127G>A	ENST00000264819.4	-	13	1618	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		ACTGTGACAGGGGCTCCGAGT	0.672000													10	5					0	0	0.000673	0	0
SUCO	51430	broad.mit.edu	37	1	172525083	172525083	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:172525083C>T	ENST00000367723.3	+	4	964	c.840C>T	c.(838-840)tcC>tcT	p.S280S	SUCO_ENST00000263688.3_Silent_p.S121S	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		AAGAGTCTTCCAATGCAGTTG	0.378000													32	13					0	0	0.001786	0	0
PCLO	27445	broad.mit.edu	37	7	82544227	82544227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82544227C>T	ENST00000423517.2	-	7	13412	c.13075G>A	c.(13075-13077)Gaa>Aaa	p.E4359K	PCLO_ENST00000333891.8_Missense_Mutation_p.E4359K|PCLO_ENST00000437081.1_Missense_Mutation_p.E1079K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4290					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						CTTTCTTCTTCAGAATTCTGG	0.502000													23	60					0	0	0.002780	0	0
KCNK9	51305	broad.mit.edu	37	8	140630500	140630500	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:140630500C>T	ENST00000303015.1	-	2	1189		c.e2+1		KCNK9_ENST00000520439.1_3'UTR	NM_016601.2	NP_057685.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9							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)			CCTCCCCACACCTAAACGGAC	0.423000													74	73					0	0	0.003610	0	0
DTX3L	151636	broad.mit.edu	37	3	122289444	122289444	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:122289444G>T	ENST00000296161.4	+	4	2267	c.2078G>T	c.(2077-2079)cGc>cTc	p.R693L	DTX3L_ENST00000383661.3_Missense_Mutation_p.R181L	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	693					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGGTACTCTCGCGTATTAGGA	0.428000													23	36					2.21704e-12	4.15404e-12	0.002780	1	0
CCDC73	493860	broad.mit.edu	37	11	32781685	32781685	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:32781685C>T	ENST00000531481.1	-	2	381	c.105G>A	c.(103-105)ctG>ctA	p.L35L	CCDC73_ENST00000335185.5_Silent_p.L35L|CCDC73_ENST00000534415.1_5'UTR			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	35										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTAATGCCTCCAGTAAACTTG	0.294000													67	134					0	0	0.003610	0	0
RIMS1	22999	broad.mit.edu	37	6	73108791	73108791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:73108791C>T	ENST00000264839.7	+	29	4402	c.4402C>T	c.(4402-4404)Ctt>Ttt	p.L1468F	RIMS1_ENST00000517960.1_Missense_Mutation_p.L1402F|RIMS1_ENST00000520567.1_Missense_Mutation_p.L1269F|RIMS1_ENST00000425662.2_Missense_Mutation_p.L687F|RIMS1_ENST00000414192.2_Missense_Mutation_p.L146F|RIMS1_ENST00000518273.1_Missense_Mutation_p.L1298F|RIMS1_ENST00000538414.1_Missense_Mutation_p.L425F|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.L744F|RIMS1_ENST00000517827.1_Missense_Mutation_p.L753F|RIMS1_ENST00000522291.1_Missense_Mutation_p.L1218F|RIMS1_ENST00000348717.5_Missense_Mutation_p.L1402F|RIMS1_ENST00000491071.2_Missense_Mutation_p.L1408F|RIMS1_ENST00000401910.3_Missense_Mutation_p.L939F|RIMS1_ENST00000521978.1_Missense_Mutation_p.L1619F			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1619					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGTAAAGTTCTTCAGGTCAG	0.373000													23	48					0	0	0.004656	0	0
C7orf34	135927	broad.mit.edu	37	7	142636726	142636726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142636726C>T	ENST00000409607.3	+	1	124	c.83C>T	c.(82-84)cCc>cTc	p.P28L		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	3						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					TCCATGCCTCCCCTGGCCCCC	0.657000													9	25					0	0	0.000443	0	0
CDH8	1006	broad.mit.edu	37	16	61747770	61747770	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:61747770C>T	ENST00000577390.1	-	10	2583	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	CDH8_ENST00000577730.1_Silent_p.P543P|CDH8_ENST00000299345.6_Silent_p.P543P|CDH8_ENST00000580044.1_5'UTR	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	543	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P543P(1)		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)		TGGTGAAATTCGGATTGTTGA	0.333000													21	31					0	0	0.001523	0	0
THSD7B	80731	broad.mit.edu	37	2	137814029	137814029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:137814029G>A	ENST00000409968.1	+	3	357	c.179G>A	c.(178-180)gGa>gAa	p.G60E	THSD7B_ENST00000413152.2_Missense_Mutation_p.G29E|THSD7B_ENST00000272643.3_Missense_Mutation_p.G60E					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)		GGTCCCGGAGGAGTCCAGAGT	0.493000													25	27					0	0	0.005443	0	0
ICAM2	3384	broad.mit.edu	37	17	62081042	62081042	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:62081042A>T	ENST00000412356.1	-	5	965	c.611T>A	c.(610-612)tTt>tAt	p.F204Y	ICAM2_ENST00000578892.1_Missense_Mutation_p.F180Y|ICAM2_ENST00000578379.1_Missense_Mutation_p.F103Y|ICAM2_ENST00000418105.1_Missense_Mutation_p.F204Y|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000449662.2_Missense_Mutation_p.F204Y|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Missense_Mutation_p.F204Y|ICAM2_ENST00000579687.1_Missense_Mutation_p.F204Y	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	204					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GTGTTTGTGAAAGATGTTGCC	0.567000													29	7					0	0	0.002096	0	0
TMEM109	79073	broad.mit.edu	37	11	60689495	60689495	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60689495C>T	ENST00000227525.3	+	4	993	c.590C>T	c.(589-591)gCc>gTc	p.A197V	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.A197V	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	197						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						ATCCTCTACGCCCTGCTGAGC	0.677000													20	21					0	0	0.002299	0	0
SPIDR	23514	broad.mit.edu	37	8	48626126	48626126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:48626126C>T	ENST00000297423.4	+	16	2648	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	SPIDR_ENST00000518074.1_Missense_Mutation_p.S695F|SPIDR_ENST00000541342.1_Missense_Mutation_p.S685F|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_Missense_Mutation_p.S230F	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		GGTGCAAGTTCCTGTGAGCTG	0.537000													21	45					0	0	0.001882	0	0
GABRA2	2555	broad.mit.edu	37	4	46252598	46252598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:46252598C>T	ENST00000510861.1	-	10	1256	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	GABRA2_ENST00000514090.1_Missense_Mutation_p.M361I|GABRA2_ENST00000540012.1_Missense_Mutation_p.M366I|GABRA2_ENST00000381620.4_Missense_Mutation_p.M361I|GABRA2_ENST00000356504.1_Missense_Mutation_p.M361I|GABRA2_ENST00000507069.1_Missense_Mutation_p.M421I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	361					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTCTGTATCATAACGGAAG	0.398000													35	46					0	0	0.004878	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449125	104449125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:104449125G>A	ENST00000361820.3	-	2	1657	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	353					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGCACCCAACGAAGTTCAGGG	0.512000													22	3					0	0	0.002299	0	0
ZBTB34	403341	broad.mit.edu	37	9	129641834	129641834	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:129641834A>G	ENST00000319119.4	+	2	241	c.156A>G	c.(154-156)gcA>gcG	p.A52A	ZBTB34_ENST00000373452.2_Silent_p.A48A	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	48	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCACAAAGCAGTCCTTGCTG	0.498000													76	13					0	0	0.003610	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947699	57947699	+	Silent	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57947699T>A	ENST00000335397.3	+	3	1099	c.783T>A	c.(781-783)ggT>ggA	p.G261G		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACTTGAGAGGTAACTCAGATC	0.517000													33	44					0	0	0.002836	0	0
CLDN9	9080	broad.mit.edu	37	16	3063838	3063838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3063838G>A	ENST00000445369.2	+	1	1382	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	159					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CCTCAAGCGGGAGCTGGGGGC	0.706000													7	13					0	0	0.001984	0	0
CADM2	253559	broad.mit.edu	37	3	85932485	85932485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:85932485G>A	ENST00000383699.3	+	4	910	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	CADM2_ENST00000405615.2_Missense_Mutation_p.E88K|CADM2_ENST00000407528.2_Missense_Mutation_p.E86K	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	86	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TTCCTGGCATGAATTGAGTAT	0.393000													9	19					0	0	0.000443	0	0
OLFM2	93145	broad.mit.edu	37	19	9967571	9967571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9967571C>T	ENST00000264833.4	-	5	784	c.599G>A	c.(598-600)gGg>gAg	p.G200E	OLFM2_ENST00000590841.1_Missense_Mutation_p.G122E	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	200	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GTTACTGACCCCGGTCAGCTT	0.612000													6	8					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179664562	179664562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179664562C>T	ENST00000589042.1	-	5	883	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TTN_ENST00000360870.5_Missense_Mutation_p.R220Q|TTN_ENST00000460472.2_Missense_Mutation_p.R220Q|TTN_ENST00000591111.1_Missense_Mutation_p.R220Q|TTN_ENST00000359218.5_Missense_Mutation_p.R220Q|TTN_ENST00000342992.6_Missense_Mutation_p.R220Q|TTN_ENST00000342175.6_Missense_Mutation_p.R220Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	220							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R220P(6)		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)			CTTTTCAATTCGGGTTTGTCT	0.403000													23	30					0	0	0.005443	0	0
KCNA4	3739	broad.mit.edu	37	11	30032811	30032811	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30032811C>T	ENST00000328224.6	-	2	2648	c.1415G>A	c.(1414-1416)aGa>aAa	p.R472K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	472						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CATGCTGGCTCTGAGGGTGTG	0.522000													14	34					0	0	0.002450	0	0
STXBP1	6812	broad.mit.edu	37	9	130422359	130422359	+	Silent	SNP	C	C	T	rs149736085		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:130422359C>T	ENST00000373302.3	+	5	436	c.297C>T	c.(295-297)taC>taT	p.Y99Y	STXBP1_ENST00000373299.1_Silent_p.Y99Y	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	99					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CTGCTAAATACCGGGCTGCAC	0.527000													37	7					0	0	0.002222	0	0
C19orf18	147685	broad.mit.edu	37	19	58472857	58472857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58472857G>A	ENST00000314391.3	-	5	535	c.434C>T	c.(433-435)cCg>cTg	p.P145L		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	145						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TCCTAATAACGGTATCCTGAG	0.453000													30	42					0	0	0.001512	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857186	9857186	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:9857186C>T	ENST00000396573.2	-	14	4524	c.4215G>A	c.(4213-4215)ttG>ttA	p.L1405L	GRIN2A_ENST00000330684.3_Silent_p.L1405L|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000396575.2_Silent_p.L1405L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1405					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)	CCGTTGACCTCAAGGACGACC	0.498000													21	34					0	0	0.002780	0	0
CHRND	1144	broad.mit.edu	37	2	233396114	233396114	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:233396114C>G	ENST00000258385.3	+	8	905	c.873C>G	c.(871-873)ttC>ttG	p.F291L	CHRND_ENST00000457943.2_Missense_Mutation_p.F97L|CHRND_ENST00000543200.1_Missense_Mutation_p.F276L|CHRND_ENST00000536614.1_3'UTR	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	291					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AGTCTGTCTTCCTGCTGCTCA	0.612000													13	30					0	0	0.004990	0	0
NME8	51314	broad.mit.edu	37	7	37901710	37901710	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:37901710G>A	ENST00000199447.4	+	7	723	c.351G>A	c.(349-351)gaG>gaA	p.E117E	NME8_ENST00000440017.1_Silent_p.E117E|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	117	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TCGATGAGGAGAGAAAAATTG	0.338000													21	28					0	0	0.001523	0	0
SLC18A1	6570	broad.mit.edu	37	8	20004780	20004780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:20004780C>T	ENST00000440926.1	-	16	1923	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000276373.5_Missense_Mutation_p.E485K|SLC18A1_ENST00000265808.7_Missense_Mutation_p.E453K|SLC18A1_ENST00000519026.1_Missense_Mutation_p.E453K	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	485					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AGCTTCTCTTCCTTTGCCGGG	0.488000													16	7					0	0	0.000958	0	0
SYT4	6860	broad.mit.edu	37	18	40854122	40854122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:40854122G>A	ENST00000255224.3	-	2	640	c.272C>T	c.(271-273)tCa>tTa	p.S91L	SYT4_ENST00000590752.1_Missense_Mutation_p.S73L|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	91						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGATGCAATGAATTCTTTGG	0.398000													24	37					0	0	0.002780	0	0
NTRK3	4916	broad.mit.edu	37	15	88678470	88678470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:88678470C>T	ENST00000394480.1	-	10	1387	c.1066G>A	c.(1066-1068)Gga>Aga	p.G356R	NTRK3_ENST00000558676.1_Missense_Mutation_p.G356R|NTRK3_ENST00000317501.3_Missense_Mutation_p.G356R|NTRK3_ENST00000557856.1_Missense_Mutation_p.G356R|NTRK3_ENST00000540489.2_Missense_Mutation_p.G356R|NTRK3_ENST00000357724.2_Missense_Mutation_p.G356R|NTRK3_ENST00000355254.2_Missense_Mutation_p.G356R|NTRK3_ENST00000542733.2_Missense_Mutation_p.G258R|NTRK3_ENST00000360948.2_Missense_Mutation_p.G356R	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	356	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)			GAAATCTCTCCCTCTTGGTAG	0.557000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			22	56					0	0	0.002299	0	0
PER2	8864	broad.mit.edu	37	2	239168678	239168678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:239168678C>T	ENST00000254657.3	-	14	1838	c.1559G>A	c.(1558-1560)gGt>gAt	p.G520D	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	520					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGTCTTGTTACCATTTTTACA	0.328000													5	10					0	0	0.001168	0	0
GRIP2	80852	broad.mit.edu	37	3	14535314	14535314	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14535314C>T	ENST00000273083.3	-	0	3055							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGTCGAAGTCCCGTGTACGGA	0.632000													7	12					0	0	0.003080	0	0
SELP	6403	broad.mit.edu	37	1	169581539	169581539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:169581539C>T	ENST00000263686.6	-	6	914	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	SELP_ENST00000367792.2_Missense_Mutation_p.E293K|SELP_ENST00000367788.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.E293K|SELP_ENST00000367786.2_Missense_Mutation_p.E293K|SELP_ENST00000367794.2_Missense_Mutation_p.E293K|SELP_ENST00000367793.2_Intron|SELP_ENST00000367791.2_Missense_Mutation_p.E293K	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	293	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AATCCCTCTTCACAACTGAAG	0.527000													59	42					0	0	0.003610	0	0
DAZAP1	26528	broad.mit.edu	37	19	1430315	1430315	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1430315C>T	ENST00000336761.6	+	10	1030	c.825C>T	c.(823-825)ccC>ccT	p.P275P	DAZAP1_ENST00000233078.4_Silent_p.P275P	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	275	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GAGGCTTTCCCCCTCCCCAGG	0.677000													7	10					0	0	0.003080	0	0
ZNF292	23036	broad.mit.edu	37	6	87967604	87967604	+	Silent	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:87967604T>A	ENST00000369577.3	+	8	4300	c.4257T>A	c.(4255-4257)ccT>ccA	p.P1419P	ZNF292_ENST00000339907.4_Silent_p.P1414P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATGGACAGCCTTCTCTTCTTG	0.438000													68	84					0	0	0.003610	0	0
SLAMF6	114836	broad.mit.edu	37	1	160465953	160465953	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160465953G>A	ENST00000368059.3	-	2	349	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Silent_p.L94L	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	94						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CTGAGTTGCAGGGAGTAGGAC	0.473000													68	63					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	215901522	215901522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215901522C>T	ENST00000366943.2	-	61	12302	c.11916G>A	c.(11914-11916)tgG>tgA	p.W3972*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.W3972*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3972	Fibronectin type-III 25.				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)		TGGCTTGAGCCCAAGGAGCTG	0.488000										HNSCC(13;0.011)			27	56					0	0	0.004656	0	0
EIF3I	8668	broad.mit.edu	37	1	32694346	32694346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:32694346C>T	ENST00000373586.1	+	8	730	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	220						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTCCACAACTCTTGAACATCA	0.552000													145	181					0	0	0.003610	0	0
ACSS3	79611	broad.mit.edu	37	12	81568669	81568669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81568669C>T	ENST00000548058.1	+	8	2111	c.1201C>T	c.(1201-1203)Cgt>Tgt	p.R401C	ACSS3_ENST00000548324.1_Missense_Mutation_p.R83C|ACSS3_ENST00000261206.3_Missense_Mutation_p.R400C			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	401						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAGAGCAATCCGTCAACAGGA	0.507000													19	35					0	0	0.000958	0	0
ZNF277	11179	broad.mit.edu	37	7	111927124	111927124	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:111927124C>T	ENST00000421043.1	+	2	308	c.288C>T	c.(286-288)ttC>ttT	p.F96F	ZNF277_ENST00000450657.1_Silent_p.F96F|ZNF277_ENST00000361822.3_Silent_p.F96F			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	96						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						TTGCTGATTTCCAAAGGTAAG	0.398000													84	71					0	0	0.003610	0	0
GAS8	2622	broad.mit.edu	37	16	90104193	90104193	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:90104193C>T	ENST00000268699.4	+	8	1070	c.948C>T	c.(946-948)gtC>gtT	p.V316V	GAS8_ENST00000536122.1_Silent_p.V291V|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	316					negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GTTTGAAAGTCAGGGAGAAAG	0.532000													53	66					0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170011012	170011012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:170011012G>A	ENST00000263816.3	-	66	12538	c.12253C>T	c.(12253-12255)Caa>Taa	p.Q4085*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4085					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)	TCAACAGCTTGGATATATTCC	0.373000													36	36					0	0	0.003755	0	0
SLC26A8	116369	broad.mit.edu	37	6	35928780	35928780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:35928780G>A	ENST00000490799.1	-	13	1911	c.1558C>T	c.(1558-1560)Cgt>Tgt	p.R520C	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R520C|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R415C	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	520					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGTGTGAACGAACAGTGGTG	0.413000													16	26					0	0	0.004990	0	0
DHTKD1	55526	broad.mit.edu	37	10	12162788	12162788	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:12162788C>T	ENST00000263035.4	+	17	2723	c.2661C>T	c.(2659-2661)ctC>ctT	p.L887L		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	887					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACTTATAGCTCCGTCTGGTGG	0.473000													105	195					0	0	0.003610	0	0
ZNF366	167465	broad.mit.edu	37	5	71739960	71739960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:71739960C>T	ENST00000318442.5	-	5	2348	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCCTCCTCTTCCTCCTCGTGG	0.652000													49	18					0	0	0.003610	0	0
SMTNL1	219537	broad.mit.edu	37	11	57317475	57317475	+	Missense_Mutation	SNP	G	G	A	rs34201154		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57317475G>A	ENST00000457912.1	+	8	1429	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	SMTNL1_ENST00000399154.2_Missense_Mutation_p.D422N|SMTNL1_ENST00000527972.1_Missense_Mutation_p.D459N			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	459										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GCTGGACGTGGATGACATGGT	0.547000													15	28					0	0	0.002450	0	0
C1orf106	55765	broad.mit.edu	37	1	200880918	200880918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:200880918C>T	ENST00000367342.4	+	9	1752	c.1552C>T	c.(1552-1554)Ccg>Tcg	p.P518S	C1orf106_ENST00000413687.2_Missense_Mutation_p.P433S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	518										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TGGCTATTTCCCGGCGGGGCG	0.731000													10	15					0	0	0.000673	0	0
PRKCG	5582	broad.mit.edu	37	19	54403565	54403565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54403565G>A	ENST00000263431.3	+	12	1642	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K	PRKCG_ENST00000542049.1_Missense_Mutation_p.E341K|PRKCG_ENST00000540413.1_Missense_Mutation_p.E454K	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	454	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CAAGTTTAAGGAGCCCCATGC	0.592000													22	19					0	0	0.002299	0	0
PPFIA2	8499	broad.mit.edu	37	12	81676811	81676811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81676811G>A	ENST00000550584.2	-	25	3291	c.2996C>T	c.(2995-2997)tCt>tTt	p.S999F	PPFIA2_ENST00000552948.1_Missense_Mutation_p.S978F|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S984F|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S904F|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S900F|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S999F|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S846F|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S984F|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S999F|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	904										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTTCCTCAGATTCTTTCTG	0.323000													19	29					0	0	0.002299	0	0
LRRK1	79705	broad.mit.edu	37	15	101549171	101549171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:101549171C>T	ENST00000284395.5	+	8	1283	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	LRRK1_ENST00000388948.3_Missense_Mutation_p.P298S			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	298					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCGGTTATCCCCTGGGGCCT	0.597000											OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	12					0	0	0.001368	0	0
FRMD3	257019	broad.mit.edu	37	9	85905579	85905579	+	Silent	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:85905579T>C	ENST00000304195.3	-	13	1340	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E	FRMD3_ENST00000376438.1_Silent_p.E378E|FRMD3_ENST00000376434.1_Silent_p.E184E	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	378						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GCTGCAGGGGTTCCATGTTAA	0.517000													72	8					0	0	0.003610	0	0
ZNF324	25799	broad.mit.edu	37	19	58983411	58983411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58983411C>T	ENST00000536459.2	+	4	2261	c.1552C>T	c.(1552-1554)Ccc>Tcc	p.P518S	ZNF324_ENST00000535298.1_Missense_Mutation_p.P295S|ZNF324_ENST00000196482.3_Missense_Mutation_p.P518S			O75467	Z324A_HUMAN	zinc finger protein 324	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGCCTGCACCCCCAGGCCAG	0.706000													8	24					0	0	0.004482	0	0
ANXA13	312	broad.mit.edu	37	8	124710666	124710666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:124710666G>A	ENST00000262219.6	-	5	510	c.443C>T	c.(442-444)tCc>tTc	p.S148F	ANXA13_ENST00000419625.1_Missense_Mutation_p.S107F	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	107					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AATGAGGACGGACTCATCTGT	0.602000													26	63					0	0	0.001271	0	0
TRANK1	9881	broad.mit.edu	37	3	36880178	36880178	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36880178A>T	ENST00000429976.2	-	18	5425	c.5178T>A	c.(5176-5178)ggT>ggA	p.G1726G	TRANK1_ENST00000301807.6_Silent_p.G1176G|TRANK1_ENST00000428977.2_Silent_p.G1176G			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1726					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTCAAATGCACCTCCTTTCT	0.473000													7	9					0	0	0.003080	0	0
MROH2B	133558	broad.mit.edu	37	5	41000375	41000375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41000375C>T	ENST00000399564.4	-	39	4879	c.4429G>A	c.(4429-4431)Gat>Aat	p.D1477N	MROH2B_ENST00000506092.2_Missense_Mutation_p.D1032N	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGATCCTGATCAAGGAGACGG	0.502000													24	34					0	0	0.003330	0	0
COL7A1	1294	broad.mit.edu	37	3	48613867	48613867	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48613867C>T	ENST00000328333.8	-	69	5845	c.5736_splice	c.e69-1	p.G1913_splice	COL7A1_ENST00000454817.1_Splice_Site_p.G1881_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1913	Triple-helical region.				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)		CCCACGGTCACCCTGAAAACA	0.627000													5	8					0	0	0.001984	0	0
HTRA1	5654	broad.mit.edu	37	10	124266289	124266289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124266289C>T	ENST00000368984.3	+	4	988	c.860C>T	c.(859-861)tCc>tTc	p.S287F		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	287	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AGCCCGTTTTCCCTTCAAAAC	0.617000													17	26					0	0	0.001523	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316266	30316266	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:30316266C>T	ENST00000375377.1	-	3	2912	c.2811G>A	c.(2809-2811)gtG>gtA	p.V937V		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	937										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CACCTTCTTCCACGCGAAAGC	0.607000													24	28					0	0	0.002780	0	0
LRRC43	254050	broad.mit.edu	37	12	122674686	122674686	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:122674686C>T	ENST00000339777.4	+	5	700	c.672C>T	c.(670-672)ctC>ctT	p.L224L	LRRC43_ENST00000425921.1_Silent_p.L39L	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	224										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGCCCAACCTCGTCTCCCTGG	0.657000													44	66					0	0	0.003610	0	0
MACF1	23499	broad.mit.edu	37	1	39818804	39818804	+	Silent	SNP	G	G	A	rs150239827	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:39818804G>A	ENST00000564288.1	+	44	12102	c.11325G>A	c.(11323-11325)tcG>tcA	p.S3775S	MACF1_ENST00000539005.1_Silent_p.S1713S|MACF1_ENST00000289893.4_Silent_p.S2215S|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Silent_p.S1713S|MACF1_ENST00000372915.3_Silent_p.S3780S|MACF1_ENST00000317713.7_Silent_p.S1713S|MACF1_ENST00000361689.2_Silent_p.S1713S|MACF1_ENST00000567887.1_Silent_p.S3812S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3780					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S2215S(1)|p.S1713S(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCAGCTCTCGGGAGCTAGCT	0.507000													24	44					0	0	0.003954	0	0
C1orf198	84886	broad.mit.edu	37	1	230979283	230979283	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:230979283G>A	ENST00000366663.5	-	3	884	c.744C>T	c.(742-744)ctC>ctT	p.L248L	C1orf198_ENST00000470540.1_Silent_p.L210L|C1orf198_ENST00000523410.1_Silent_p.L118L|C1orf198_ENST00000427697.2_Silent_p.L31L	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	248										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCTCCTGACGGAGGGTGCTGG	0.642000													22	15					0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179456617	179456617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179456617G>A	ENST00000589042.1	-	303	60153	c.59929C>T	c.(59929-59931)Ccc>Tcc	p.P19977S	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10912S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18336S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P11037S|TTN_ENST00000342992.6_Missense_Mutation_p.P17409S|TTN_ENST00000342175.6_Missense_Mutation_p.P11104S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18336	Fibronectin type-III 44.						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)			GGCCCTGGGGGATCTTTTCAA	0.423000													19	35					0	0	0.001216	0	0
DSG3	1830	broad.mit.edu	37	18	29054340	29054340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:29054340G>A	ENST00000257189.4	+	15	2441	c.2358G>A	c.(2356-2358)atG>atA	p.M786I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	786					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGATAAGCATGAATTTTCTGG	0.398000													33	50					0	0	0.004878	0	0
GRID2	2895	broad.mit.edu	37	4	94693290	94693290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:94693290G>A	ENST00000282020.4	+	16	2923	c.2665G>A	c.(2665-2667)Gac>Aac	p.D889N	GRID2_ENST00000510992.1_Missense_Mutation_p.D794N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	889					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CACAGATGACGACAGCCCCCA	0.443000													34	61					0	0	0.004289	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111594984	111594984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:111594984C>T	ENST00000261486.5	-	9	1013	c.737G>A	c.(736-738)cGg>cAg	p.R246Q		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	246	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.R246L(2)|p.R246Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTTGTAATCCGAGGCCTAAA	0.393000													28	11					0	0	0.001271	0	0
EVI5	7813	broad.mit.edu	37	1	92979374	92979374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:92979374G>A	ENST00000370331.1	-	18	2281	c.2272C>T	c.(2272-2274)Cct>Tct	p.P758S	EVI5_ENST00000540033.1_Missense_Mutation_p.P758S|EVI5_ENST00000543509.1_Missense_Mutation_p.P769S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	758	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCGTGCAAAGGAAAACCAACA	0.433000													38	42					0	0	0.005524	0	0
FLT3	2322	broad.mit.edu	37	13	28578200	28578200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:28578200C>T	ENST00000380982.4	-	24	3061	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000241453.7_Missense_Mutation_p.E991K|FLT3_ENST00000537084.1_Missense_Mutation_p.E950K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	991					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TACGAATCTTCGACCTGAGCC	0.453000			"""Mis, O"""		"""AML, ALL"""								24	30					0	0	0.004656	0	0
XIRP2	129446	broad.mit.edu	37	2	168102838	168102838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168102838G>A	ENST00000409195.1	+	9	5025	c.4936G>A	c.(4936-4938)Gaa>Aaa	p.E1646K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1646K|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1424K|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1471					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						CAGATCAACTGAATTTCATGC	0.323000													18	21					0	0	0.006122	0	0
SCARA5	286133	broad.mit.edu	37	8	27764708	27764708	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:27764708C>T	ENST00000354914.3	-	6	1538	c.1053G>A	c.(1051-1053)ggG>ggA	p.G351G	SCARA5_ENST00000518030.1_Silent_p.G308G|SCARA5_ENST00000380385.2_Silent_p.G126G|SCARA5_ENST00000301906.4_Silent_p.G308G|RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000524352.1_Silent_p.G351G	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	351	Collagen-like.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CCCCCAGCTTCCCATCATCGC	0.592000													60	18					0	0	0.003610	0	0
NOTCH4	4855	broad.mit.edu	37	6	32191635	32191635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32191635C>T	ENST00000375023.3	-	1	209	c.71G>A	c.(70-72)aGa>aAa	p.R24K		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	24	EGF-like 1.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGCCTCACCTCTGGGTCTGAC	0.647000													36	59					0	0	0.004878	0	0
STK36	27148	broad.mit.edu	37	2	219557366	219557366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219557366C>T	ENST00000295709.3	+	16	2255	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	STK36_ENST00000392105.3_Missense_Mutation_p.S659F|STK36_ENST00000440309.1_Missense_Mutation_p.S659F|STK36_ENST00000392106.2_Missense_Mutation_p.S659F	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	659					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GGAGCCATTTCCTCTGCCCTG	0.572000													7	13					0	0	0.003080	0	0
LIPH	200879	broad.mit.edu	37	3	185234906	185234906	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:185234906G>A	ENST00000296252.4	-	7	1072	c.931C>T	c.(931-933)Cct>Tct	p.P311S	LIPH_ENST00000424591.2_Missense_Mutation_p.P277S	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	311					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTCATTGGAGGATCTTTCCCC	0.383000													172	240					0	0	0.003610	0	0
CHRDL2	25884	broad.mit.edu	37	11	74429817	74429817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:74429817G>A	ENST00000376332.3	-	2	639	c.143C>T	c.(142-144)cCc>cTc	p.P48L	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.P48L	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	48	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTCCAAGTAGGGGTGCCAGCT	0.587000													5	14					0	0	0.000602	0	0
FCGR1B	2210	broad.mit.edu	37	1	120930274	120930274	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:120930274G>A	ENST00000369384.4	-	4	369	c.327C>T	c.(325-327)gtC>gtT	p.V109V	FCGR1B_ENST00000369383.4_Silent_p.V17V|FCGR1B_ENST00000472543.1_5'UTR|RP11-439A17.10_ENST00000426275.1_RNA|RP11-439A17.9_ENST00000457996.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	109	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTCTGCTGGAGACCTGCAGTA	0.488000													60	72					0	0	0.003610	0	0
DYNAP	284254	broad.mit.edu	37	18	52265165	52265165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:52265165C>T	ENST00000321600.1	+	3	468	c.422C>T	c.(421-423)tCg>tTg	p.S141L	DYNAP_ENST00000585973.1_Missense_Mutation_p.S89L	NM_173629.1	NP_775900.1			dynactin associated protein																		AACAAAGGATCGGCCAATTCC	0.448000													16	40					0	0	0.004007	0	0
PDYN	5173	broad.mit.edu	37	20	1961277	1961277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:1961277C>T	ENST00000217305.2	-	4	682	c.457G>A	c.(457-459)Gat>Aat	p.D153N	PDYN_ENST00000540134.1_Missense_Mutation_p.D153N|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.D153N	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	153					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGGCACCATCGTTCAGCTGG	0.572000													6	41					0	0	0.001984	0	0
RYR3	6263	broad.mit.edu	37	15	33765646	33765646	+	Silent	SNP	C	C	T	rs142065681	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:33765646C>T	ENST00000389232.4	+	2	148	c.78C>T	c.(76-78)atC>atT	p.I26I	RYR3_ENST00000415757.3_Silent_p.I26I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	26					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGTGCATCGCCACCATTC	0.557000													39	62					0	0	0.001706	0	0
HAND2	9464	broad.mit.edu	37	4	174450078	174450078	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:174450078T>A	ENST00000359562.4	-	1	1302	c.363A>T	c.(361-363)gaA>gaT	p.E121D	HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000515310.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	121	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ACTCGCGCAGTTCGGCGAAGG	0.682000													34	53					0	0	0.003755	0	0
C10orf120	399814	broad.mit.edu	37	10	124457719	124457719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124457719G>A	ENST00000329446.4	-	3	569	c.538C>T	c.(538-540)Cat>Tat	p.H180Y		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	180										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				AAAGGCTGATGATTTCCCAGA	0.507000													41	61					0	0	0.003610	0	0
PCDH8	5100	broad.mit.edu	37	13	53419641	53419641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:53419641C>T	ENST00000377942.3	-	2	2961	c.2758G>A	c.(2758-2760)Ggg>Agg	p.G920R	PCDH8_ENST00000338862.4_Missense_Mutation_p.G823R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	920					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)		TCACTGTCCCCTTTACCGCTG	0.542000													22	34					0	0	0.001061	0	0
GCDH	2639	broad.mit.edu	37	19	13002951	13002951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:13002951C>T	ENST00000222214.5	+	5	504	c.293C>T	c.(292-294)tCg>tTg	p.S98L	GCDH_ENST00000422947.2_Intron|GCDH_ENST00000591470.1_Missense_Mutation_p.S98L|GCDH_ENST00000457854.1_Missense_Mutation_p.S98L			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	98					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GAGATCATTTCGGAGATGGGG	0.562000													14	24					0	0	0.003163	0	0
AP3S1	1176	broad.mit.edu	37	5	115249116	115249116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:115249116C>T	ENST00000316788.7	+	6	1068	c.511C>T	c.(511-513)Cct>Tct	p.P171S	AP3S1_ENST00000505423.1_3'UTR	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	171					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TATGAATCTTCCTGAGATCCC	0.383000													14	47					0	0	0.006122	0	0
ABCB4	5244	broad.mit.edu	37	7	87053297	87053297	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:87053297G>A	ENST00000265723.4	-	17	2247	c.2136C>T	c.(2134-2136)gtC>gtT	p.V712V	ABCB4_ENST00000359206.3_Silent_p.V712V|ABCB4_ENST00000358400.3_Silent_p.V712V|ABCB4_ENST00000545634.1_Silent_p.V712V|ABCB4_ENST00000453593.1_Silent_p.V712V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	712	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGTTCCCACGACAAAGTAGG	0.448000													44	99					0	0	0.003214	0	0
MAATS1	89876	broad.mit.edu	37	3	119449180	119449180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:119449180G>A	ENST00000273390.5	+	8	1051	c.974G>A	c.(973-975)gGa>gAa	p.G325E		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CTGCAGGAGGGAAAAGAGGCA	0.443000													63	63					0	0	0.003610	0	0
MOS	4342	broad.mit.edu	37	8	57025559	57025559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:57025559C>T	ENST00000311923.1	-	1	982	c.983G>A	c.(982-984)aGg>aAg	p.R328K		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	328	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CGCGCTCGGCCTCTGCGCCGC	0.607000													28	16					0	0	0.001061	0	0
BDNF	627	broad.mit.edu	37	11	27679991	27679991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:27679991C>T	ENST00000525528.1	-	1	1214	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	BDNF_ENST00000314915.6_Missense_Mutation_p.G49R|BDNF_ENST00000533246.1_Missense_Mutation_p.G41R|BDNF_ENST00000356660.4_Missense_Mutation_p.G41R|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.G41R|BDNF_ENST00000395980.2_Missense_Mutation_p.G41R|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.G56R|BDNF_ENST00000533131.1_Missense_Mutation_p.G41R|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.G41R|BDNF_ENST00000418212.1_Missense_Mutation_p.G41R|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.G123R|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.G41R|BDNF_ENST00000420794.1_Missense_Mutation_p.G41R|BDNF_ENST00000395983.3_Missense_Mutation_p.G41R|BDNF_ENST00000532997.1_Missense_Mutation_p.G41R|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395981.3_Missense_Mutation_p.G41R|BDNF_ENST00000525950.1_Missense_Mutation_p.G41R	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	41						extracellular region	growth factor activity	p.G49W(1)|p.G123W(1)		breast(1)|large_intestine(3)|lung(2)	6						TCCAGAGTCCCATGGGTCCGC	0.517000													44	54					0	0	0.002852	0	0
BRD9	65980	broad.mit.edu	37	5	865553	865553	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:865553A>T	ENST00000323510.4	-	12	1380	c.1381T>A	c.(1381-1383)Tcc>Acc	p.S461T	BRD9_ENST00000483173.1_Missense_Mutation_p.S504T|BRD9_ENST00000467963.1_Missense_Mutation_p.S557T|BRD9_ENST00000388890.4_Missense_Mutation_p.S441T			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	557							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCCCTCTCGGAGGCGTTGGAC	0.662000													15	47					0	0	0.004990	0	0
ADAR	103	broad.mit.edu	37	1	154570414	154570414	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:154570414G>A	ENST00000368474.4	-	4	2023	c.1824C>T	c.(1822-1824)tcC>tcT	p.S608S	ADAR_ENST00000292205.5_Silent_p.S651S|ADAR_ENST00000368471.3_Silent_p.S313S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	608					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CAGAAAAGAAGGATGTGGCTG	0.502000													16	24					0	0	0.004007	0	0
PROX2	283571	broad.mit.edu	37	14	75323699	75323699	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:75323699C>T	ENST00000556084.2	-	2	732		c.e2-1		PROX2_ENST00000445876.1_Splice_Site|PROX2_ENST00000556489.2_Splice_Site	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGCGGTTGAACTGTACAAACA	0.448000													120	28					0	0	0.003610	0	0
NOS1	4842	broad.mit.edu	37	12	117660561	117660561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:117660561C>T	ENST00000317775.6	-	26	4619	c.3934G>A	c.(3934-3936)Gag>Aag	p.E1312K	NOS1_ENST00000338101.4_Missense_Mutation_p.E1346K|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1312					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTGTACAGCTCTCTGAAGACC	0.587000													31	52					0	0	0.001786	0	0
RTP2	344892	broad.mit.edu	37	3	187416366	187416366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:187416366G>A	ENST00000358241.1	-	2	1026	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	200					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.R200C(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		AGGCACCAGCGAAGAGACAAG	0.592000													15	25					0	0	0.004990	0	0
FAT4	79633	broad.mit.edu	37	4	126411418	126411418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126411418G>A	ENST00000394329.3	+	17	13454	c.13441G>A	c.(13441-13443)Gct>Act	p.A4481T	FAT4_ENST00000335110.5_Missense_Mutation_p.A2722T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4481					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						GGTGTGCAAAGCTGGAAGTCC	0.612000													23	33					0	0	0.004656	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316844	78316844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:78316844G>A	ENST00000409931.3	-	6	1195	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.S375F			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	375						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTCATACTGGGATGACCGGAC	0.527000													11	27					0	0	0.000978	0	0
OR13C2	392376	broad.mit.edu	37	9	107367600	107367600	+	Silent	SNP	G	G	A	rs148118547		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:107367600G>A	ENST00000542196.1	-	1	351	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGGCCAAGCCGAGGAACATCT	0.512000													46	9					0	0	0.003610	0	0
HTR1F	3355	broad.mit.edu	37	3	88040444	88040444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:88040444C>T	ENST00000319595.4	+	1	599	c.545C>T	c.(544-546)aCc>aTc	p.T182I		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	182					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	ATTGTTTCCACCATTTACTCA	0.383000													26	35					0	0	0.001271	0	0
CSN2	1447	broad.mit.edu	37	4	70823160	70823160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:70823160C>T	ENST00000353151.3	-	5	518	c.507G>A	c.(505-507)tgG>tgA	p.W169*		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	169					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GAGGAACAGACCACAGGGGCT	0.562000													13	19					0	0	0.001368	0	0
CNTN4	152330	broad.mit.edu	37	3	2944560	2944560	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:2944560G>A	ENST00000397461.1	+	11	1462	c.1077_splice	c.e11-1	p.D360_splice	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000427331.1_Splice_Site_p.D360_splice|CNTN4_ENST00000358480.3_Splice_Site_p.D141_splice|CNTN4_ENST00000418658.1_Splice_Site_p.D360_splice|CNTN4_ENST00000397459.2_Splice_Site_p.D32_splice|CNTN4_ENST00000448906.2_Splice_Site_p.D32_splice	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	360	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCTTTCACAGGATAGAATTCA	0.358000													5	14					0	0	0.000602	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202091	140202091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140202091C>T	ENST00000529859.1	+	1	731	c.731C>T	c.(730-732)tCc>tTc	p.S244F	PCDHA5_ENST00000529619.1_Missense_Mutation_p.S244F|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S244F	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGATAAATCCATTTATAAT	0.388000													37	16					0	0	0.004289	0	0
BMPR1B	658	broad.mit.edu	37	4	96070058	96070058	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:96070058G>A	ENST00000515059.1	+	11	1519	c.1236G>A	c.(1234-1236)agG>agA	p.R412R	BMPR1B_ENST00000264568.4_Silent_p.R412R|BMPR1B_ENST00000440890.2_Silent_p.R442R|BMPR1B_ENST00000394931.1_Silent_p.R412R	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	412	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGGTTGCTAGGAGATGTGTAT	0.403000													30	53					0	0	0.003271	0	0
NFAM1	150372	broad.mit.edu	37	22	42807586	42807586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:42807586G>A	ENST00000329021.5	-	2	315	c.278C>T	c.(277-279)cCt>cTt	p.P93L		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	93	Ig-like V-type.				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						TGGCTTCTTAGGGCTCCTCTG	0.552000													31	34					0	0	0.003755	0	0
NXF3	56000	broad.mit.edu	37	X	102333497	102333497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:102333497C>T	ENST00000395065.3	-	17	1543	c.1442G>A	c.(1441-1443)aGc>aAc	p.S481N	NXF3_ENST00000425644.1_Missense_Mutation_p.S153N|NXF3_ENST00000497850.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	481	NTF2.|Poly-Ser.					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						CCTGGAACTGCTGCCAGGGGT	0.547000													47	7					0	0	0.003610	0	0
PAMR1	25891	broad.mit.edu	37	11	35463162	35463162	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:35463162G>A	ENST00000378880.2	-	7	1345	c.900C>T	c.(898-900)atC>atT	p.I300I	PAMR1_ENST00000532848.1_Silent_p.I260I|PAMR1_ENST00000278360.3_Silent_p.I317I|PAMR1_ENST00000378878.3_Silent_p.I189I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	300	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGCGTCCGTTGATAAGCCCAG	0.453000													42	47					0	0	0.002522	0	0
GZMH	2999	broad.mit.edu	37	14	25077614	25077614	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:25077614C>G	ENST00000216338.4	-	2	104	c.60G>C	c.(58-60)gaG>gaC	p.E20D	RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Missense_Mutation_p.E20D|GZMH_ENST00000557220.2_Missense_Mutation_p.E20D|RP11-104E19.1_ENST00000557736.1_RNA	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	20					apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CCCCGATGATCTCCTCTGAAA	0.537000													63	12					0	0	0.003610	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128850476	128850476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128850476G>A	ENST00000310343.9	-	17	1905	c.1906C>T	c.(1906-1908)Cat>Tat	p.H636Y	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.H287Y|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.H562Y|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.H287Y	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	636					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATTATGGTATGAAATTTCCCC	0.373000													26	42					0	0	0.001061	0	0
TBX21	30009	broad.mit.edu	37	17	45822634	45822634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45822634C>T	ENST00000177694.1	+	6	1721	c.1510C>T	c.(1510-1512)Ccc>Tcc	p.P504S		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	504					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCGCGTGTCCCCCTATCCTTC	0.567000													38	6					0	0	0.004878	0	0
MUC7	4589	broad.mit.edu	37	4	71347006	71347006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71347006C>T	ENST00000413702.1	+	4	833	c.545C>T	c.(544-546)tCc>tTc	p.S182F	MUC7_ENST00000456088.1_Missense_Mutation_p.S182F|MUC7_ENST00000304887.5_Missense_Mutation_p.S182F	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	182	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCATCTTCCTCAGCTCCA	0.567000													28	46					0	0	0.002836	0	0
KIF13A	63971	broad.mit.edu	37	6	17855830	17855830	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:17855830G>A	ENST00000378814.5	-	6	331	c.332C>T	c.(331-333)tCc>tTc	p.S111F	KIF13A_ENST00000259711.6_Missense_Mutation_p.S111F|KIF13A_ENST00000378816.5_Missense_Mutation_p.S111F|KIF13A_ENST00000378826.2_Missense_Mutation_p.S111F|KIF13A_ENST00000378843.2_Missense_Mutation_p.S111F	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	111	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCCCATCATGGAAAAGGATTT	0.443000													11	20					0	0	0.000978	0	0
MEFV	4210	broad.mit.edu	37	16	3299603	3299603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3299603C>T	ENST00000219596.1	-	3	1127	c.1088G>A	c.(1087-1089)aGc>aAc	p.S363N	MEFV_ENST00000541159.1_Missense_Mutation_p.S152N|MEFV_ENST00000536379.1_Missense_Mutation_p.S152N|MEFV_ENST00000339854.4_Missense_Mutation_p.S183N	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	363					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCTTCCCGGGCTCTTCCTTTC	0.647000													17	13					0	0	0.004990	0	0
OR51B6	390058	broad.mit.edu	37	11	5373184	5373184	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5373184G>A	ENST00000380219.1	+	1	447	c.447G>A	c.(445-447)agG>agA	p.R149R	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGACAAGGGCTGGTCTGT	0.473000													29	33					0	0	0.001271	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132169	59132169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:59132169C>T	ENST00000313940.2	+	1	285	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	80					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						CTCCACAGTCCCCAAGATGCT	0.413000													44	67					0	0	0.003610	0	0
GPBP1	65056	broad.mit.edu	37	5	56542231	56542231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:56542231C>T	ENST00000424459.3	+	8	1917	c.643C>T	c.(643-645)Ccg>Tcg	p.P215S	GPBP1_ENST00000264779.6_Missense_Mutation_p.P202S|GPBP1_ENST00000514387.2_Missense_Mutation_p.P24S|GPBP1_ENST00000454432.2_Missense_Mutation_p.P215S|GPBP1_ENST00000538707.1_Missense_Mutation_p.P202S|GPBP1_ENST00000506184.2_Missense_Mutation_p.P195S|GPBP1_ENST00000511209.1_Missense_Mutation_p.P202S	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		AGGAAATCTTCCGTCACAGCC	0.408000													18	10					0	0	0.004990	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37425564	37425564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:37425564G>A	ENST00000374660.1	+	6	716	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R206Q|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R206Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	262						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						GAATATATACGAAAATTATCT	0.269000													6	19					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179417239	179417239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179417239C>T	ENST00000589042.1	-	335	90612	c.90388G>A	c.(90388-90390)Gaa>Aaa	p.E30130K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E21065K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E28489K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E21190K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E27562K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E21257K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28489	Fibronectin type-III 119.						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)			AGGTCAACTTCAGGTGTAATA	0.433000													16	20					0	0	0.004990	0	0
COL4A1	1282	broad.mit.edu	37	13	110817287	110817287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:110817287C>T	ENST00000375820.4	-	46	4193	c.4072G>A	c.(4072-4074)Gag>Aag	p.E1358K		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1358	Triple-helical region.			E -> Q (in Ref. 8; AA sequence).	angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCCCGGGCTCCCCTTTGATG	0.622000													5	2					0	0	0.004482	0	0
MAPK12	6300	broad.mit.edu	37	22	50696677	50696677	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:50696677C>T	ENST00000215659.8	-	3	624	c.309G>A	c.(307-309)acG>acA	p.T103T	MAPK12_ENST00000395780.1_Silent_p.T23T|MAPK12_ENST00000395778.3_Silent_p.T103T|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	103	Protein kinase.		T -> M (in dbSNP:rs34422484).		cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCACAAGTCCGTGAAGTCAT	0.612000													19	26					0	0	0.001882	0	0
REPS2	9185	broad.mit.edu	37	X	17153431	17153431	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:17153431C>T	ENST00000357277.3	+	16	1881	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Silent_p.F369F|REPS2_ENST00000303843.7_Silent_p.F569F	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	570	Interaction with ASAP1 (By similarity).|Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GTAGGAAATTCAGACCAGAAA	0.418000													69	13					0	0	0.003610	0	0
MIER1	57708	broad.mit.edu	37	1	67394631	67394631	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:67394631C>T	ENST00000357692.2	+	3	302	c.45C>T	c.(43-45)ttC>ttT	p.F15F	MIER1_ENST00000371018.3_Silent_p.F15F|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000371012.2_Silent_p.F15F|MIER1_ENST00000371016.1_Silent_p.F15F|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401041.1_Intron	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	0					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GGACTCTTTTCCTGTCAAATT	0.338000													15	7					0	0	0.004007	0	0
COBLL1	22837	broad.mit.edu	37	2	165551680	165551680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:165551680G>A	ENST00000375458.2	-	11	2443	c.2222C>T	c.(2221-2223)tCc>tTc	p.S741F	COBLL1_ENST00000409184.3_Missense_Mutation_p.S779F|COBLL1_ENST00000392717.2_Missense_Mutation_p.S817F|COBLL1_ENST00000342193.4_Missense_Mutation_p.S779F|COBLL1_ENST00000194871.6_Missense_Mutation_p.S846F	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	817										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TATTTCCAAGGATTTGGGAGG	0.378000													69	53					0	0	0.003610	0	0
GJA10	84694	broad.mit.edu	37	6	90604397	90604397	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:90604397C>T	ENST00000369352.1	+	1	210	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	70					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ATGATGCATTCCCTATCTCTT	0.468000													17	24					0	0	0.004990	0	0
SIN3B	23309	broad.mit.edu	37	19	16989322	16989322	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:16989322C>T	ENST00000379803.1	+	20	3287	c.3273C>T	c.(3271-3273)gtC>gtT	p.V1091V	SIN3B_ENST00000594235.1_3'UTR|SIN3B_ENST00000248054.5_Silent_p.V1059V|SIN3B_ENST00000595541.1_Silent_p.V649V	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	1091					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGCCCCTGGTCCTGCTCCGCC	0.677000													4	0					0	0	0.000248	0	0
CFTR	1080	broad.mit.edu	37	7	117242901	117242901	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:117242901C>T	ENST00000003084.6	+	16	2773	c.2641C>T	c.(2641-2643)Ctg>Ttg	p.L881L	CFTR_ENST00000454343.1_Silent_p.L820L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	881	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTGGTTGTGCTGTGGCTCCT	0.368000									Cystic Fibrosis				140	90					0	0	0.003610	0	0
RIMS2	9699	broad.mit.edu	37	8	105105856	105105856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105105856G>A	ENST00000436393.2	+	21	3120	c.2879G>A	c.(2878-2880)gGa>gAa	p.G960E	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	410					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCCCAGGAGGAAACAAGAAA	0.383000										HNSCC(12;0.0054)			14	51					0	0	0.003163	0	0
NBPF3	84224	broad.mit.edu	37	1	21807446	21807446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:21807446G>A	ENST00000318220.6	+	15	2285	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	NBPF3_ENST00000342104.5_Missense_Mutation_p.E457K|NBPF3_ENST00000318249.5_Missense_Mutation_p.E469K|NBPF3_ENST00000454000.2_Missense_Mutation_p.E399K			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	469	NBPF 3.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCAAGAAGAGGAAGAAGACCA	0.468000													15	98					0	0	0.002780	0	0
SPSB4	92369	broad.mit.edu	37	3	140785535	140785535	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:140785535C>T	ENST00000310546.2	+	2	1333	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	197	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGGCCAGTACCTGGGCGTGGC	0.627000													9	9					0	0	0.004482	0	0
AHSG	197	broad.mit.edu	37	3	186336349	186336349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:186336349G>A	ENST00000411641.2	+	5	817	c.598G>A	c.(598-600)Gag>Aag	p.E200K	AHSG_ENST00000273784.5_Missense_Mutation_p.E201K			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	200	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TACCTATGTGGAGTTTACAGT	0.517000													13	32					0	0	0.001855	0	0
FAM193B	54540	broad.mit.edu	37	5	176963465	176963465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176963465G>A	ENST00000443375.2	-	5	2189	c.631C>T	c.(631-633)Cca>Tca	p.P211S	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000514747.1_Missense_Mutation_p.P324S			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	279										kidney(1)|large_intestine(3)	4						GAGAATGGTGGGGGCATCTTC	0.662000													3	0					0	0	0.004672	0	0
OR51A7	119687	broad.mit.edu	37	11	4928611	4928611	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4928611C>T	ENST00000359350.4	+	1	12	c.12C>T	c.(10-12)ctC>ctT	p.L4L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCTGTTCTCAATAACTCCG	0.438000													19	14					0	0	0.001216	0	0
HSD17B2	3294	broad.mit.edu	37	16	82069190	82069190	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:82069190C>G	ENST00000199936.4	+	1	354	c.161C>G	c.(160-162)cCt>cGt	p.P54R		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	54					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	ATCCTGTCCCCTTTTTGGGGC	0.517000													9	24					0	0	0.004482	0	0
GDF2	2658	broad.mit.edu	37	10	48414412	48414412	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:48414412G>A	ENST00000249598.1	-	2	615	c.456C>T	c.(454-456)ctC>ctT	p.L152L		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	152					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AGGAGACATAGAGTCGGAGCT	0.498000													11	29					0	0	0.001855	0	0
POF1B	79983	broad.mit.edu	37	X	84562249	84562249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:84562249C>T	ENST00000262753.4	-	11	1229	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	POF1B_ENST00000373145.3_Missense_Mutation_p.D362N	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	362							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AATGATAAATCTTTCTCAAGT	0.328000													16	1					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179458944	179458944	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179458944G>A	ENST00000589042.1	-	297	58400	c.58176C>T	c.(58174-58176)ttC>ttT	p.F19392F	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Silent_p.F10327F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.F17751F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.F10452F|TTN_ENST00000342992.6_Silent_p.F16824F|TTN_ENST00000342175.6_Silent_p.F10519F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17751	Fibronectin type-III 40.		E -> K (in a lung neuroendocrine carcinoma sample; somatic mutation).				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)			GCTTATCTCTGAAGTCGAGGT	0.413000													36	37					0	0	0.001485	0	0
CDH6	1004	broad.mit.edu	37	5	31267718	31267718	+	Silent	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:31267718T>C	ENST00000265071.2	+	2	403	c.138T>C	c.(136-138)aaT>aaC	p.N46N	CDH6_ENST00000514738.1_5'UTR	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	46					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACAGCAAAAATGAGCTGAACC	0.488000													7	85					0	0	0.000443	0	0
CSMD3	114788	broad.mit.edu	37	8	114448954	114448954	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:114448954A>T	ENST00000297405.5	-	1	374	c.130T>A	c.(130-132)Ttt>Att	p.F44I	CSMD3_ENST00000455883.2_Missense_Mutation_p.F44I|CSMD3_ENST00000352409.3_Missense_Mutation_p.F44I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	44						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						CAAAACGTAAATCCACTTTTA	0.498000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			69	193					0	0	0.003610	0	0
RNF175	285533	broad.mit.edu	37	4	154649372	154649372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:154649372C>T	ENST00000347063.4	-	4	760	c.388G>A	c.(388-390)Gga>Aga	p.G130R	RNF175_ENST00000274068.4_Intron|RNF175_ENST00000506505.1_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	130						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GGTGTCCTTCCTGAGAGGGGT	0.438000													18	28					0	0	0.000958	0	0
VSTM4	196740	broad.mit.edu	37	10	50315705	50315705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:50315705C>T	ENST00000332853.3	-	2	414	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	VSTM4_ENST00000298454.3_Missense_Mutation_p.E131K	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	131	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CTGCTGATTTCCTGGACTCTG	0.617000													24	33					0	0	0.002780	0	0
FFAR1	2864	broad.mit.edu	37	19	35842813	35842813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:35842813C>T	ENST00000246553.2	+	1	369	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	120					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	TTCCGGAGGCCGTGCTATTCC	0.672000													19	30					0	0	0.001882	0	0
AKAP6	9472	broad.mit.edu	37	14	33291898	33291898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:33291898G>A	ENST00000280979.4	+	13	5049	c.4879G>A	c.(4879-4881)Gaa>Aaa	p.E1627K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1627	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCAGTTGGTGAACTAAGTAA	0.403000													42	9					0	0	0.001287	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714338	138714338	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:138714338G>A	ENST00000389532.4	-	11	2233	c.2169C>T	c.(2167-2169)ccC>ccT	p.P723P	CAMSAP1_ENST00000409386.3_Silent_p.P734P|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Silent_p.P445P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	723						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGTGGGAGTTGGGGCTTTTTG	0.552000													28	6					0	0	0.001271	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761883	130761883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:130761883C>T	ENST00000392429.1	+	2	2694	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	TMEM200A_ENST00000545622.1_Missense_Mutation_p.R106W|TMEM200A_ENST00000296978.3_Missense_Mutation_p.R106W	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	106						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCAGGTCATTCGGAATGAAGG	0.418000													33	34					0	0	0.002445	0	0
MSMO1	6307	broad.mit.edu	37	4	166261499	166261499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:166261499C>T	ENST00000261507.6	+	5	831	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C	MSMO1_ENST00000393766.2_Missense_Mutation_p.R89C|MSMO1_ENST00000504317.1_Missense_Mutation_p.R220C	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	220					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	GGTGACCATTCGTTTATTAGA	0.333000													34	48					0	0	0.004878	0	0
TRANK1	9881	broad.mit.edu	37	3	36872703	36872703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36872703C>A	ENST00000429976.2	-	21	8486	c.8239G>T	c.(8239-8241)Gag>Tag	p.E2747*	TRANK1_ENST00000301807.6_Nonsense_Mutation_p.E2197*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E2197*			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2747					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTGCCCCCTCAAACGCTTTG	0.547000													25	29					2.21704e-12	4.15404e-12	0.002780	1	0
MUC16	94025	broad.mit.edu	37	19	9076530	9076530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9076530C>T	ENST00000397910.4	-	3	11119	c.10916G>A	c.(10915-10917)gGa>gAa	p.G3639E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3640	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						CAGGCTGGTTCCAATGACAGT	0.448000													18	45					0	0	0.001882	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84517962	84517962	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:84517962G>A	ENST00000331369.5	+	0	156																											TCCAGTCAAGGAAACTTTGAG	0.577000													9	9					0	0	0.004482	0	0
NBEA	26960	broad.mit.edu	37	13	35716405	35716405	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:35716405G>A	ENST00000400445.3	+	18	2870		c.e18-1		NBEA_ENST00000310336.4_Splice_Site|NBEA_ENST00000379939.2_Splice_Site|NBEA_ENST00000540320.1_Splice_Site	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTCTCTCCAGGAGAAAAGTT	0.373000													24	99					0	0	0.002299	0	0
CCDC171	203238	broad.mit.edu	37	9	15745559	15745559	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:15745559C>T	ENST00000380701.3	+	18	2929	c.2601C>T	c.(2599-2601)ctC>ctT	p.L867L	CCDC171_ENST00000297641.3_Silent_p.L867L	NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN	coiled-coil domain containing 171	867																	TCAGTTGGCTCACCAGTTCTG	0.353000													104	37					0	0	0.003610	0	0
FAT1	2195	broad.mit.edu	37	4	187628027	187628027	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:187628027G>A	ENST00000441802.2	-	2	3164	c.2955C>T	c.(2953-2955)atC>atT	p.I985I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	985	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGCTGGACGATCCTAACTG	0.468000										HNSCC(5;0.00058)			43	51					0	0	0.001706	0	0
RSAD2	91543	broad.mit.edu	37	2	7023635	7023635	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:7023635G>A	ENST00000382040.3	+	2	616	c.480G>A	c.(478-480)ctG>ctA	p.L160L	RSAD2_ENST00000541728.1_Silent_p.L53L	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	160					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ATGGAAGCCTGATCCGGGAGA	0.478000													18	23					0	0	0.001216	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54911346	54911346	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:54911346C>T	ENST00000293373.6	+	12	1204	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	NCKAP1L_ENST00000545638.2_Silent_p.F325F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	375					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCCTGTCCTTCATTCGTGATG	0.443000													28	47					0	0	0.001512	0	0
CHRM5	1133	broad.mit.edu	37	15	34356319	34356319	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:34356319C>T	ENST00000383263.5	+	3	2071	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	CHRM5_ENST00000557872.1_Silent_p.F467F	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	467					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)	TTTCTACCTTCTGTGACAAGT	0.502000													22	36					0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179632639	179632639	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179632639C>T	ENST00000589042.1	-	40	9542	c.9318G>A	c.(9316-9318)caG>caA	p.Q3106Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.Q3106Q|TTN_ENST00000460472.2_Silent_p.Q3060Q|TTN_ENST00000591111.1_Silent_p.Q3106Q|TTN_ENST00000359218.5_Silent_p.Q3060Q|TTN_ENST00000342992.6_Silent_p.Q3106Q|TTN_ENST00000342175.6_Silent_p.Q3060Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2843	Ig-like 18.						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)			ATTTCTCCTTCTGAATCTTTA	0.448000													14	19					0	0	0.002450	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182852557	182852557	+	Missense_Mutation	SNP	C	C	T	rs143581354	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:182852557C>T	ENST00000280295.3	+	2	328	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	PPP1R1C_ENST00000409137.3_Intron|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Intron|PPP1R1C_ENST00000409702.1_Intron			Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	27					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			GGGCTTTTGTCGTTCACAGAT	0.453000													50	90					0	0	0.003610	0	0
UBXN4	23190	broad.mit.edu	37	2	136533860	136533860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:136533860C>T	ENST00000272638.9	+	10	1303	c.992C>T	c.(991-993)tCc>tTc	p.S331F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	331	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GATGGTTCTTCCTTTACAAAT	0.358000													25	37					0	0	0.002445	0	0
TLL1	7092	broad.mit.edu	37	4	166964467	166964467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:166964467C>T	ENST00000061240.2	+	12	2067	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*	TLL1_ENST00000507499.1_Nonsense_Mutation_p.Q474*	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	474	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGACAGATTCAGTCTCCCAA	0.413000													49	68					0	0	0.003610	0	0
OR5P3	120066	broad.mit.edu	37	11	7846909	7846909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7846909C>T	ENST00000328375.1	-	1	610	c.611G>A	c.(610-612)gGa>gAa	p.G204E	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATGATAGATCCAGAAGAGAT	0.423000													22	39					0	0	0.002780	0	0
OPRK1	4986	broad.mit.edu	37	8	54142099	54142099	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:54142099T>A	ENST00000265572.3	-	4	1198	c.901A>T	c.(901-903)Agc>Tgc	p.S301C	OPRK1_ENST00000520287.1_Missense_Mutation_p.S301C|OPRK1_ENST00000524278.1_Missense_Mutation_p.S212C|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	301					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGGGAGGTGCTCCCCAGAGCC	0.542000													10	31					0	0	0.001368	0	0
HHIP	64399	broad.mit.edu	37	4	145633170	145633170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:145633170G>A	ENST00000296575.3	+	8	2025	c.1370G>A	c.(1369-1371)gGa>gAa	p.G457E		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	457						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GACTCCAATGGAAAAAACAGA	0.358000													42	67					0	0	0.002522	0	0
CYP46A1	10858	broad.mit.edu	37	14	100172986	100172986	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:100172986C>T	ENST00000261835.3	+	6	550	c.446C>T	c.(445-447)tCc>tTc	p.S149F	CYP46A1_ENST00000423126.2_Missense_Mutation_p.S52F|CYP46A1_ENST00000554176.1_5'UTR	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	149					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TTCTCCAGCTCCTTGGTTAGC	0.552000													45	9					0	0	0.003610	0	0
TAF1	6872	broad.mit.edu	37	X	70607247	70607247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:70607247C>T	ENST00000449580.1	+	15	2411	c.2360C>T	c.(2359-2361)cCc>cTc	p.P787L	TAF1_ENST00000276072.3_Missense_Mutation_p.P808L|TAF1_ENST00000423759.1_Missense_Mutation_p.P808L|TAF1_ENST00000373790.4_Missense_Mutation_p.P787L			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	787					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGCAGTGTCCCTTGTTTGAA	0.443000													31	5					0	0	0.002836	0	0
CACNA1C	775	broad.mit.edu	37	12	2705123	2705123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:2705123C>T	ENST00000399655.1	+	20	3012	c.2747C>T	c.(2746-2748)tCc>tTc	p.S916F	CACNA1C_ENST00000335762.5_Missense_Mutation_p.S941F|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S916F|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S916F|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S916F|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S916F|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S916F|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S916F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	916					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGCAGCATTTCCCTGGCTGCT	0.582000													9	33					0	0	0.000673	0	0
MRPL23	6150	broad.mit.edu	37	11	1972180	1972180	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1972180C>G	ENST00000381514.3	+	2	91	c.69C>G	c.(67-69)aaC>aaG	p.N23K	MRPL23_ENST00000381519.1_Missense_Mutation_p.N23K|MRPL23_ENST00000397297.3_Missense_Mutation_p.N23K|MRPL23_ENST00000397298.3_Missense_Mutation_p.N23K|MRPL23_ENST00000397294.3_Missense_Mutation_p.N23K|MRPL23_ENST00000486931.1_3'UTR			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	23					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCCGAACCAACTTCTTCATTC	0.617000													8	13					0	0	0.003080	0	0
MAP4	4134	broad.mit.edu	37	3	47908795	47908795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:47908795G>A	ENST00000426837.2	-	17	6529	c.6442C>T	c.(6442-6444)Cat>Tat	p.H2148Y	MAP4_ENST00000360240.6_Missense_Mutation_p.H1003Y|MAP4_ENST00000264724.11_Missense_Mutation_p.H738Y|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000420772.2_Missense_Mutation_p.H696Y|MAP4_ENST00000441748.2_Missense_Mutation_p.H117Y|MAP4_ENST00000395734.3_Missense_Mutation_p.H1003Y			P27816	MAP4_HUMAN	microtubule-associated protein 4	1003					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GACTGAATATGGCTGTAGCTC	0.438000													29	65					0	0	0.004878	0	0
ZC3H13	23091	broad.mit.edu	37	13	46549448	46549448	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:46549448G>T	ENST00000242848.4	-	12	2786	c.2438C>A	c.(2437-2439)cCa>cAa	p.P813Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P813Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	813	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCATCTCTTGGATTCCTATC	0.358000													7	184					0.00307968	0.0057151	0.003080	1	0
ROCK1P1	727758	broad.mit.edu	37	18	117127	117127	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:117127C>T	ENST00000576266.1	+	0	352																											TTTCCAAAATCACAAAGGCCA	0.413000													13	15					0	0	0.004007	0	0
CDH2	1000	broad.mit.edu	37	18	25570082	25570082	+	Missense_Mutation	SNP	C	C	T	rs150313483		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:25570082C>T	ENST00000269141.3	-	10	2000	c.1577G>A	c.(1576-1578)cGa>cAa	p.R526Q	CDH2_ENST00000399380.3_Missense_Mutation_p.R495Q	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	526	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGCATATATCGATCTGGGTC	0.378000													27	42					0	0	0.005443	0	0
PITPNB	23760	broad.mit.edu	37	22	28306962	28306962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:28306962G>A	ENST00000335272.5	-	3	263	c.187C>T	c.(187-189)Cac>Tac	p.H63Y	PITPNB_ENST00000455418.3_Missense_Mutation_p.H65Y|PITPNB_ENST00000320996.10_Missense_Mutation_p.H63Y	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	63					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						CTCTTTAGGTGATAAATTTTG	0.388000													32	44					0	0	0.004289	0	0
APOF	319	broad.mit.edu	37	12	56755841	56755841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:56755841G>A	ENST00000398189.3	-	2	226	c.149C>T	c.(148-150)cCc>cTc	p.P50L	APOF_ENST00000541105.1_Missense_Mutation_p.P32L	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	50					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding	p.P50L(2)		breast(1)|lung(3)|prostate(1)|stomach(1)	6						CAAGGACAAGGGAAAGTGCAT	0.522000													31	81					0	0	0.003755	0	0
KCTD8	386617	broad.mit.edu	37	4	44177190	44177190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:44177190C>T	ENST00000360029.3	-	2	1322	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	347						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GTCCCACTTTCACTTCCTTTA	0.448000										HNSCC(17;0.042)			19	34					0	0	0.006122	0	0
LRRC4	64101	broad.mit.edu	37	7	127670519	127670519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:127670519C>T	ENST00000249363.3	-	2	432	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	59	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GTGCACACCACCTTGCTGAAC	0.632000													49	35					0	0	0.003610	0	0
OR4C12	283093	broad.mit.edu	37	11	50003708	50003708	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:50003708G>A	ENST00000335238.4	-	1	363	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGCAGGATGATCTCAGTAG	0.458000													56	73					0	0	0.003610	0	0
BSN	8927	broad.mit.edu	37	3	49694020	49694020	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49694020G>A	ENST00000296452.4	+	5	7145	c.7031G>A	c.(7030-7032)gGt>gAt	p.G2344D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2344					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCTCCTGGGGGTGGCAGTGGG	0.652000													11	12					0	0	0.001855	0	0
PCDH15	65217	broad.mit.edu	37	10	55587175	55587175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55587175C>T	ENST00000373965.2	-	33	4760	c.4366G>A	c.(4366-4368)Gaa>Aaa	p.E1456K	PCDH15_ENST00000395430.1_Missense_Mutation_p.E1446K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1456K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1409K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1424K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1449K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1451K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E1060K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1378K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1449K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1449K|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1449					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)				CCAAGTTCTTCATAGAGATGC	0.552000										HNSCC(58;0.16)			19	32					0	0	0.006122	0	0
GABPB2	126626	broad.mit.edu	37	1	151062912	151062912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:151062912C>T	ENST00000368918.3	+	3	470	c.139C>T	c.(139-141)Caa>Taa	p.Q47*	GABPB2_ENST00000368917.1_Nonsense_Mutation_p.Q47*|GABPB2_ENST00000368916.1_Nonsense_Mutation_p.Q47*	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	47					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		CCTTGCAGCTCAATATGGTCA	0.488000													26	23					0	0	0.003330	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713801	142713801	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:142713801C>T	ENST00000369381.2	-	0	804																											TGCATATTTCCTGTCTGAGTA	0.279000													6	116					0	0	0.001168	0	0
STK36	27148	broad.mit.edu	37	2	219553520	219553520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219553520C>T	ENST00000295709.3	+	12	1760	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	STK36_ENST00000392105.3_Missense_Mutation_p.S494F|STK36_ENST00000440309.1_Missense_Mutation_p.S494F|STK36_ENST00000392106.2_Missense_Mutation_p.S494F	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	494					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GCCTTGTATTCCTTCTGCCGG	0.582000													28	41					0	0	0.005443	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099750	142099750	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142099750G>A	ENST00000390359.3	-	0	90																											GCACCTGTGTGATCTGTGGAA	0.453000													23	18					0	0	0.003330	0	0
THBS2	7058	broad.mit.edu	37	6	169649039	169649039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:169649039C>T	ENST00000366787.3	-	4	331	c.82G>A	c.(82-84)Gac>Aac	p.D28N		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	28	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTGAAAAGGTCGAAGGTCGTG	0.612000													8	17					0	0	0.004482	0	0
GPR98	84059	broad.mit.edu	37	5	90086950	90086950	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:90086950G>A	ENST00000405460.2	+	70	14400	c.14304G>A	c.(14302-14304)tcG>tcA	p.S4768S	GPR98_ENST00000425867.2_Silent_p.S429S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4768					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)		CCCTGTATTCGGATCGCCAGT	0.453000													10	11					0	0	0.000443	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464387	110464387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110464387G>A	ENST00000378402.5	+	42	6489	c.6385G>A	c.(6385-6387)Gaa>Aaa	p.E2129K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2129	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CACCATAGCTGAAGCCAAATG	0.398000										HNSCC(38;0.096)			38	28					0	0	0.002852	0	0
OR2T27	403239	broad.mit.edu	37	1	248813789	248813789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248813789G>A	ENST00000344889.3	-	1	396	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAGGACAGGATAGTGCAGA	0.547000													12	24					0	0	0.003163	0	0
RPTN	126638	broad.mit.edu	37	1	152127612	152127612	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152127612T>C	ENST00000316073.3	-	3	2027	c.1963A>G	c.(1963-1965)Agc>Ggc	p.S655G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	655	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGATGTTGGCTATCCTCTTCA	0.512000													47	45					0	0	0.003610	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120715	41120715	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:41120715T>C	ENST00000299174.5	-	1	192	c.125A>G	c.(124-126)cAc>cGc	p.H42R	PPP1R14D_ENST00000427255.2_Missense_Mutation_p.H42R	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	42					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAGTCCGGGTGGGACTTGGA	0.602000													20	23					0	0	0.001216	0	0
KLHL1	57626	broad.mit.edu	37	13	70281891	70281891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:70281891G>A	ENST00000377844.4	-	10	2812	c.2053C>T	c.(2053-2055)Cct>Tct	p.P685S	KLHL1_ENST00000545028.1_Missense_Mutation_p.P492S	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	685					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATACTCAAAGGAGCCACCATG	0.388000													9	11					0	0	0.000673	0	0
SORCS3	22986	broad.mit.edu	37	10	106974277	106974277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106974277G>A	ENST00000369701.3	+	18	2680	c.2453G>A	c.(2452-2454)gGa>gAa	p.G818E	SORCS3_ENST00000369699.4_Missense_Mutation_p.G104E	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	818						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)		ATGTGCCCTGGAAAAGCCCCT	0.552000													15	22					0	0	0.004007	0	0
PROKR1	10887	broad.mit.edu	37	2	68873218	68873218	+	Missense_Mutation	SNP	C	C	T	rs61742478	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:68873218C>T	ENST00000303786.3	+	2	685	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R89C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	89						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGCCCTGGTCCGCTACAAGAA	0.547000													56	71					0	0	0.003610	0	0
DPYS	1807	broad.mit.edu	37	8	105436599	105436599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105436599C>T	ENST00000351513.2	-	7	1243	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	371					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AATCTGTTTTCATCCATTTTA	0.338000													29	27					0	0	0.001061	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601033	64601033	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:64601033G>A	ENST00000498707.1	-	21	3495	c.3153C>T	c.(3151-3153)ttC>ttT	p.F1051F	ADAMTS9_ENST00000295903.4_Silent_p.F1023F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1051					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTGGACAAGGGAACTCACTGC	0.458000													164	224					0	0	0.003610	0	0
U2SURP	23350	broad.mit.edu	37	3	142773807	142773807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:142773807C>T	ENST00000397933.2	+	26	2852	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	U2SURP_ENST00000493598.2_Missense_Mutation_p.P932S|U2SURP_ENST00000473835.2_Missense_Mutation_p.P933S			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	933					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CAGTACATCCCCCAGCCCATC	0.458000													7	4					0	0	0.003080	0	0
TBC1D31	93594	broad.mit.edu	37	8	124140536	124140536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:124140536C>T	ENST00000287380.1	+	14	1990	c.1900C>T	c.(1900-1902)Cgg>Tgg	p.R634W	TBC1D31_ENST00000521676.1_Missense_Mutation_p.R511W|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R529W|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R634W|TBC1D31_ENST00000327098.5_Missense_Mutation_p.R634W|TBC1D31_ENST00000378080.2_Missense_Mutation_p.R529W	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TTTTCACCATCGGAATAACCT	0.328000													19	69					0	0	0.001882	0	0
OR56A4	120793	broad.mit.edu	37	11	6023832	6023832	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6023832G>A	ENST00000330728.4	-	1	592	c.547C>T	c.(547-549)Cat>Tat	p.H183Y		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCAATGGATGGCAGATGGCC	0.498000													11	10					0	0	0.000978	0	0
DPYD	1806	broad.mit.edu	37	1	97770838	97770838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:97770838C>T	ENST00000370192.3	-	18	2376	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	759					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATATGTAGTTCGCTTTGCAAT	0.478000													37	52					0	0	0.004289	0	0
GIPC3	126326	broad.mit.edu	37	19	3590104	3590104	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3590104C>T	ENST00000322315.5	+	6	900	c.855C>T	c.(853-855)tcC>tcT	p.S285S		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	285										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTTAGACTCCGTCTTGGGCG	0.647000													11	15					0	0	0.000978	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170199	207170199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:207170199C>T	ENST00000374423.3	+	5	1333	c.947C>T	c.(946-948)cCt>cTt	p.P316L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	316							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACTGACATGCCTTCTAATAAA	0.368000													21	39					0	0	0.001216	0	0
HMOX1	3162	broad.mit.edu	37	22	35783086	35783086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:35783086C>T	ENST00000216117.8	+	3	892	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	185					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)	CTACCGCTCCCGCATGAACTC	0.612000													24	41					0	0	0.003330	0	0
PPP1CC	5501	broad.mit.edu	37	12	111162533	111162533	+	Missense_Mutation	SNP	A	A	C	rs11558237		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:111162533A>C	ENST00000335007.5	-	4	645	c.455T>G	c.(454-456)tTc>tGc	p.F152C	PPP1CC_ENST00000550991.1_Missense_Mutation_p.F152C|PPP1CC_ENST00000340766.5_Missense_Mutation_p.F152C|PPP1CC_ENST00000546933.1_Missense_Mutation_p.F161C|PPP1CC_ENST00000551676.1_Missense_Mutation_p.F152C	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	152			F -> S (in dbSNP:rs11558237).		cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						ACAGTCTGTGAAAGTTTTCCA	0.363000													25	46					0	0	0.001271	0	0
IL18RAP	8807	broad.mit.edu	37	2	103067478	103067478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103067478G>A	ENST00000264260.2	+	11	1970	c.1381G>A	c.(1381-1383)Gga>Aga	p.G461R	IL18RAP_ENST00000409369.1_Missense_Mutation_p.G319R	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	461	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGCTCCAGGAGGAGGTAAGTC	0.403000													24	33					0	0	0.003330	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227182600	227182600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:227182600G>A	ENST00000366769.3	-	35	6243	c.4952C>T	c.(4951-4953)tCc>tTc	p.S1651F	CDC42BPA_ENST00000366765.3_Missense_Mutation_p.S1664F|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.S1631F|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.S1713F|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.S1686F|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.S1570F|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.S1623F	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1664					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTCTGACGGGGAGGGCATGGG	0.587000													49	50					0	0	0.003610	0	0
ATP8B4	79895	broad.mit.edu	37	15	50193414	50193414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:50193414C>T	ENST00000284509.6	-	21	2305	c.2164G>A	c.(2164-2166)Gga>Aga	p.G722R	ATP8B4_ENST00000559829.1_Missense_Mutation_p.G722R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	722					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)		CTGTTTTGTCCAAACAAATTT	0.358000													14	19					0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9074244	9074244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9074244G>A	ENST00000397910.4	-	3	13405	c.13202C>T	c.(13201-13203)cCa>cTa	p.P4401L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4403	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						CAAGAGATATGGACCCTGTGT	0.473000													50	83					0	0	0.003610	0	0
EXOC4	60412	broad.mit.edu	37	7	133689691	133689691	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:133689691C>T	ENST00000253861.4	+	16	2404	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L	EXOC4_ENST00000541309.1_Missense_Mutation_p.P80L|EXOC4_ENST00000539845.1_Missense_Mutation_p.P691L|EXOC4_ENST00000545148.1_Missense_Mutation_p.P402L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	792					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TATCTTATCCCTCTTGCAAAG	0.453000													65	37					0	0	0.003610	0	0
UPF2	26019	broad.mit.edu	37	10	12071456	12071456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:12071456G>A	ENST00000356352.2	-	2	906	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C	UPF2_ENST00000357604.5_Missense_Mutation_p.R145C|UPF2_ENST00000397053.2_Missense_Mutation_p.R145C			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	145					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTTTTGCTACGAAGTTCCTTT	0.373000													213	295					0	0	0.003610	0	0
TACR3	6870	broad.mit.edu	37	4	104579461	104579461	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:104579461G>A	ENST00000304883.2	-	2	788	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	216						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GACACTGAGGGAAGGCAAGTA	0.423000													27	34					0	0	0.001512	0	0
S100A7A	338324	broad.mit.edu	37	1	153391710	153391710	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:153391710C>T	ENST00000368729.4	+	3	288	c.231C>T	c.(229-231)tcC>tcT	p.S77S	S100A7A_ENST00000329256.2_Silent_p.S77S|S100A7A_ENST00000368728.2_Silent_p.S77S	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	77	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTTTCTGTCCTTGCTGGGAG	0.517000													25	26					0	0	0.004656	0	0
PDYN	5173	broad.mit.edu	37	20	1961313	1961313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:1961313C>T	ENST00000217305.2	-	4	646	c.421G>A	c.(421-423)Gca>Aca	p.A141T	PDYN_ENST00000540134.1_Missense_Mutation_p.A141T|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.A141T	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	141					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAGACTCTGCTCCCTCCCTA	0.547000													29	18					0	0	0.002445	0	0
PXDNL	137902	broad.mit.edu	37	8	52387679	52387679	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:52387679C>T	ENST00000356297.4	-	7	647	c.547G>A	c.(547-549)Gtt>Att	p.V183I	PXDNL_ENST00000543296.1_Missense_Mutation_p.V183I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	183	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGTCACAAACCAGGGCGTTG	0.483000													28	13					0	0	0.002096	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822087	43822087	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:43822087G>T	ENST00000389420.3	-	26	3901	c.3902C>A	c.(3901-3903)cCa>cAa	p.P1301Q	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.P419Q|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P1301Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1301						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTGACTGATGGATGGACCAC	0.388000													6	130					0.00307968	0.0057151	0.003080	1	0
DNAH8	1769	broad.mit.edu	37	6	38840389	38840389	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38840389G>A	ENST00000359357.3	+	48	6671	c.6417G>A	c.(6415-6417)acG>acA	p.T2139T	DNAH8_ENST00000449981.2_Silent_p.T2356T|DNAH8_ENST00000441566.1_Silent_p.T2103T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCGTTATCACGATTCTAATGA	0.443000													21	29					0	0	0.001216	0	0
EXD3	54932	broad.mit.edu	37	9	140242631	140242631	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:140242631G>A	ENST00000340951.4	-	17	2085	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	EXD3_ENST00000342129.4_Intron	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	630					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						ACACCACACGGAAGGCCCTGG	0.667000													14	6					0	0	0.004007	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24873957	24873957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:24873957G>A	ENST00000396432.2	-	26	5747	c.5261C>T	c.(5260-5262)tCc>tTc	p.S1754F		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1753	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTTTTTCGGATTCGCCTCT	0.438000													64	90					0	0	0.003610	0	0
TTLL10	254173	broad.mit.edu	37	1	1120453	1120453	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:1120453G>A	ENST00000379290.1	+	13	1538	c.1365G>A	c.(1363-1365)cgG>cgA	p.R455R	TTLL10_ENST00000379289.1_Silent_p.R455R|TTLL10_ENST00000379288.3_Silent_p.R382R			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	455	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	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)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGAAGGCCCGGGGCCTCGCCA	0.617000													9	16					0	0	0.000443	0	0
AKNAD1	254268	broad.mit.edu	37	1	109363230	109363230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:109363230C>T	ENST00000370001.3	-	14	2454	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q		NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	729										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGAACAGATCCGTTTGGGTTT	0.328000													35	76					0	0	0.004289	0	0
OC90	729330	broad.mit.edu	37	8	133036790	133036790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133036790C>T	ENST00000262283.5	-	18	2107	c.2008G>A	c.(2008-2010)Gcc>Acc	p.A670T	OC90_ENST00000254627.3_Missense_Mutation_p.A458T|OC90_ENST00000603859.1_Missense_Mutation_p.A458T|OC90_ENST00000443356.2_Missense_Mutation_p.A474T			Q02509	OC90_HUMAN	otoconin 90	474					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AACCTCTTGGCTCTGCCGAGG	0.612000													24	12					0	0	0.002780	0	0
SPRR4	163778	broad.mit.edu	37	1	152944429	152944429	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152944429G>A	ENST00000328051.2	+	2	112	c.63G>A	c.(61-63)caG>caA	p.Q21Q		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	21	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCAGCAGCAGCAAGTGAAGC	0.577000													25	35					0	0	0.004656	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64635398	64635398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:64635398G>A	ENST00000498707.1	-	10	1862	c.1520C>T	c.(1519-1521)cCt>cTt	p.P507L	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P479L	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	507					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGTTGGACAGGCAAAGGGTA	0.473000													158	248					0	0	0.003610	0	0
C3	718	broad.mit.edu	37	19	6681979	6681979	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6681979C>T	ENST00000245907.6	-	35	4415	c.4323G>A	c.(4321-4323)agG>agA	p.R1441R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1441	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGAGGGTGTTCCTATCGGAGA	0.532000													60	85					0	0	0.003610	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694141	129694141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:129694141G>A	ENST00000422113.2	-	5	1693	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	456						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)		GTCCTCCACGGAGACCACTTT	0.572000													8	15					0	0	0.003080	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156948061	156948061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156948061G>A	ENST00000368194.3	-	6	1484	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P149S	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	149					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTGGTGAGGGGATCACTGAC	0.582000													17	37					0	0	0.004007	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99227197	99227197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99227197C>T	ENST00000394152.2	+	8	1516	c.1189C>T	c.(1189-1191)Cac>Tac	p.H397Y	ZSCAN25_ENST00000262941.6_Missense_Mutation_p.H325Y|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.H397Y	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		CCAGAGAACCCACCTGGGAAA	0.582000													29	17					0	0	0.005443	0	0
NREP	9315	broad.mit.edu	37	5	111071187	111071187	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:111071187G>A	ENST00000379671.3	-	4	285	c.21C>T	c.(19-21)ctC>ctT	p.L7L	NREP_ENST00000447165.2_Silent_p.L7L|NREP_ENST00000509979.1_Silent_p.L7L|NREP_ENST00000257435.7_Silent_p.L7L|NREP_ENST00000450761.2_Silent_p.L7L|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000453526.2_Silent_p.L7L|NREP_ENST00000419114.2_Silent_p.L7L|NREP_ENST00000515855.1_Silent_p.L7L|NREP_ENST00000508870.1_Silent_p.L7L|NREP_ENST00000455559.2_Silent_p.L7L|NREP_ENST00000446294.2_Silent_p.L7L|NREP_ENST00000509427.1_Silent_p.L7L|NREP_ENST00000509025.1_Silent_p.L7L|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000395634.3_Silent_p.L51L	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein	7						cytoplasm											CCCAGACAAAGAGTTCTGGGT	0.388000													45	17					0	0	0.003610	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135891593	135891593	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:135891593C>T	ENST00000264158.8	+	15	1532	c.1489C>T	c.(1489-1491)Ctg>Ttg	p.L497L	RAB3GAP1_ENST00000442034.1_Silent_p.L497L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Silent_p.L453L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	497						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAACAACTTTCTGATTCCAGG	0.378000													31	41					0	0	0.003271	0	0
BVES	11149	broad.mit.edu	37	6	105572425	105572425	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:105572425G>A	ENST00000314641.5	-	5	861	c.645C>T	c.(643-645)ttC>ttT	p.F215F	BVES_ENST00000446408.2_Silent_p.F215F|BVES_ENST00000336775.5_Silent_p.F215F	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	215					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AACATACCTGGAATTTTTCAC	0.353000													38	60					0	0	0.004878	0	0
CCM2L	140706	broad.mit.edu	37	20	30605875	30605875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30605875G>A	ENST00000300415.8	+	4	389	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	CCM2L_ENST00000262659.8_Missense_Mutation_p.E126K					cerebral cavernous malformation 2-like																		GCGCGACAATGAAGAGCTCAT	0.657000													11	24					0	0	0.000978	0	0
OTOL1	131149	broad.mit.edu	37	3	161214652	161214652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:161214652G>A	ENST00000327928.4	+	1	57	c.57G>A	c.(55-57)atG>atA	p.M19I		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	19						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTGCTGGTATGAACACAATAG	0.373000													11	20					0	0	0.000978	0	0
OR52A5	390054	broad.mit.edu	37	11	5153391	5153391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5153391G>A	ENST00000307388.1	-	1	481	c.482C>T	c.(481-483)tCc>tTc	p.S161F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGCCCTAAGGAAGGTATTAT	0.458000													27	34					0	0	0.004656	0	0
RPL15	6138	broad.mit.edu	37	3	23959495	23959495	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:23959495C>G	ENST00000307839.5	+	2	784	c.145C>G	c.(145-147)Cgc>Ggc	p.R49G	RPL15_ENST00000413699.1_Missense_Mutation_p.R49G|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000415719.1_Missense_Mutation_p.R49G|RPL15_ENST00000354811.5_Missense_Mutation_p.R49G|RPL15_ENST00000456530.2_Missense_Mutation_p.R49G|RPL15_ENST00000435882.1_Missense_Mutation_p.R49G	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	49					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TGATAAAGCGCGCCGACTGGG	0.557000													14	24					0	0	0.004007	0	0
WDR49	151790	broad.mit.edu	37	3	167246850	167246850	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:167246850C>T	ENST00000308378.3	-	10	1645	c.1340G>A	c.(1339-1341)tGg>tAg	p.W447*	WDR49_ENST00000453925.2_Nonsense_Mutation_p.W511*|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Nonsense_Mutation_p.W272*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	447										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTCTATATTCCAGATTTTCAA	0.358000													19	32					0	0	0.002299	0	0
RASAL2	9462	broad.mit.edu	37	1	178411840	178411840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:178411840C>T	ENST00000448150.3	+	8	1722	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	RASAL2_ENST00000367649.3_Missense_Mutation_p.R320C|RASAL2_ENST00000462775.1_Missense_Mutation_p.R172C	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	172					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAATGTTCTTCGTTTATGGAT	0.393000													27	45					0	0	0.002836	0	0
DOCK3	1795	broad.mit.edu	37	3	51393678	51393678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:51393678G>A	ENST00000266037.9	+	42	4431	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1470	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAAGGAGAATGAATTCAAGGT	0.488000													18	15					0	0	0.006122	0	0
COL20A1	57642	broad.mit.edu	37	20	61950913	61950913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:61950913G>A	ENST00000422202.1	+	22	2970	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K	COL20A1_ENST00000435874.1_Missense_Mutation_p.E968K|COL20A1_ENST00000326996.6_Missense_Mutation_p.E961K|COL20A1_ENST00000358894.6_Missense_Mutation_p.E961K			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	961	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CGACCCGCAGGAAGTGAGGAA	0.662000													7	3					0	0	0.000443	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556063	45556063	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:45556063C>T	ENST00000588982.1	-	4	1929	c.1428G>A	c.(1426-1428)cgG>cgA	p.R476R	ZBTB7C_ENST00000332053.2_Silent_p.R476R|ZBTB7C_ENST00000586438.1_Silent_p.R476R|ZBTB7C_ENST00000590800.1_Silent_p.R476R|ZBTB7C_ENST00000535628.2_Silent_p.R476R			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	476						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CGCGTCGGGGCCGTGCCATGC	0.726000													4	4					0	0	0.000248	0	0
NLRP13	126204	broad.mit.edu	37	19	56423184	56423184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56423184C>T	ENST00000588751.1	-	5	2023	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E667K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	667							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTTCGTCCTCCAAAATATTA	0.408000													46	67					0	0	0.003610	0	0
ADAM28	10863	broad.mit.edu	37	8	24170995	24170995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:24170995C>T	ENST00000265769.4	+	6	588	c.478C>T	c.(478-480)Cct>Tct	p.P160S	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.P160S|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Intron	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	160					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAAGTATAACCCTGATGAAAA	0.473000													53	12					0	0	0.003610	0	0
MAG	4099	broad.mit.edu	37	19	35786590	35786590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:35786590C>T	ENST00000361922.4	+	4	271	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	MAG_ENST00000392213.3_Missense_Mutation_p.P41S|MAG_ENST00000537831.2_Missense_Mutation_p.P16S|MAG_ENST00000597035.1_Missense_Mutation_p.P41S	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	41	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CGTCTCCATCCCCTGCCGCTT	0.647000													24	21					0	0	0.004656	0	0
FAM135B	51059	broad.mit.edu	37	8	139164457	139164457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139164457G>A	ENST00000395297.1	-	13	2431	c.2261C>T	c.(2260-2262)cCt>cTt	p.P754L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	754										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)			CTCCTCAAAAGGTAAAGAGCT	0.537000										HNSCC(54;0.14)			10	45					0	0	0.000673	0	0
C18orf54	162681	broad.mit.edu	37	18	51898902	51898902	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:51898902C>A	ENST00000300091.5	+	6	1242	c.910C>A	c.(910-912)Ctt>Att	p.L304I	C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000578138.1_Missense_Mutation_p.L83I|C18orf54_ENST00000382911.4_Missense_Mutation_p.L465I	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	304						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		GTTATTTAACCTTCAAGCAGT	0.338000													42	80					5.44703e-19	1.02384e-18	0.002222	1	0
PIGN	23556	broad.mit.edu	37	18	59774098	59774098	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:59774098T>A	ENST00000357637.5	-	19	2106	c.1691A>T	c.(1690-1692)tAc>tTc	p.Y564F	PIGN_ENST00000400334.3_Missense_Mutation_p.Y564F	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	564					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CATATAGCGGTAGAAAAAACT	0.373000													4	14					0	0	0.000602	0	0
SLC1A1	6505	broad.mit.edu	37	9	4576650	4576650	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:4576650C>T	ENST00000262352.3	+	10	1316	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	360					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TCGTGTTACCCGTTGGTGCAA	0.483000													41	26					0	0	0.001951	0	0
TEX101	83639	broad.mit.edu	37	19	43922138	43922138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43922138G>A	ENST00000602198.1	+	7	996	c.554G>A	c.(553-555)gGa>gAa	p.G185E	TEX101_ENST00000253435.7_Missense_Mutation_p.G185E|TEX101_ENST00000598265.1_Missense_Mutation_p.G167E|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	167						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGCTATCAAGGAAAACTTGAG	0.473000													37	38					0	0	0.004878	0	0
ADH7	131	broad.mit.edu	37	4	100349013	100349013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:100349013C>T	ENST00000437033.2	-	5	984	c.481G>A	c.(481-483)Gat>Aat	p.D161N	ADH7_ENST00000209665.4_Missense_Mutation_p.D173N|ADH7_ENST00000482593.1_Missense_Mutation_p.D104N|ADH7_ENST00000476959.1_Missense_Mutation_p.D181N			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	173				EY -> VI (in Ref. 10; AAB38424).	ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GCTGCATCATCAATCTTAGCA	0.458000													26	66					0	0	0.001061	0	0
RUNX1T1	862	broad.mit.edu	37	8	92982967	92982967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:92982967C>T	ENST00000523629.1	-	11	1912	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.M459I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.M449I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.M486I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.M449I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.M449I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.M459I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.M497I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	486					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCGTGCGCTCCATCTTGGCCC	0.612000													18	34					0	0	0.003954	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403525	69403525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69403525G>A	ENST00000317746.2	-	6	1453	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	471					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GCTCCTTTATGGCGCATGACA	0.493000													51	15					0	0	0.003610	0	0
STOX1	219736	broad.mit.edu	37	10	70645510	70645510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:70645510C>T	ENST00000298596.6	+	3	2041	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.P653L|STOX1_ENST00000421961.2_Missense_Mutation_p.P543L	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	653						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GACCGAACACCCTCTGCTTGT	0.458000													46	64					0	0	0.003610	0	0
AMPD1	270	broad.mit.edu	37	1	115218274	115218274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:115218274C>T	ENST00000369538.3	-	11	1690	c.1643G>A	c.(1642-1644)aGt>aAt	p.S548N	AMPD1_ENST00000520113.2_Missense_Mutation_p.S552N|AMPD1_ENST00000353928.6_Missense_Mutation_p.S519N	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	519					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CATGTGGCCACTGTGTTTGGA	0.478000													43	89					0	0	0.003610	0	0
SORCS2	57537	broad.mit.edu	37	4	7725424	7725424	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:7725424G>A	ENST00000507866.2	+	19	2534	c.2424_splice	c.e19-1	p.G809_splice	SORCS2_ENST00000329016.9_Splice_Site_p.G637_splice	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	809	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTCTCTGCAGGGTGATGTCCT	0.552000													29	41					0	0	0.002096	0	0
KIF15	56992	broad.mit.edu	37	3	44893303	44893303	+	Silent	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:44893303T>G	ENST00000326047.4	+	33	3980	c.3831T>G	c.(3829-3831)ctT>ctG	p.L1277L	KIF15_ENST00000425755.1_Silent_p.L912L	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1277					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			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)		AAAGTGCCCTTTACAACAAAG	0.368000													63	86					0	0	0.003610	0	0
TECPR1	25851	broad.mit.edu	37	7	97860614	97860614	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:97860614G>A	ENST00000447648.2	-	14	2345	c.2046C>T	c.(2044-2046)gcC>gcT	p.A682A	TECPR1_ENST00000379795.3_Silent_p.A683A|TECPR1_ENST00000542604.1_Silent_p.A612A			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	682	PH.					integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGTGTACAGGGCAAAGGAGT	0.622000													5	14					0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13841216	13841216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13841216C>T	ENST00000265104.4	-	34	5612	c.5508G>A	c.(5506-5508)atG>atA	p.M1836I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1836	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)					GTGTCCATATCATCTGAATTC	0.323000									Kartagener syndrome				21	46					0	0	0.003330	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57867829	57867829	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57867829G>A	ENST00000393797.2	-	19	2376	c.2184C>T	c.(2182-2184)gcC>gcT	p.A728A	ARHGAP9_ENST00000356411.2_Silent_p.A657A|ARHGAP9_ENST00000550288.1_Silent_p.A717A|ARHGAP9_ENST00000393791.3_Silent_p.A638A|ARHGAP9_ENST00000430041.2_Silent_p.A454A|ARHGAP9_ENST00000424809.2_Silent_p.A638A			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	657	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCTTACCAAGGGCAGCACGGA	0.537000													7	12					0	0	0.001984	0	0
RIMBP2	23504	broad.mit.edu	37	12	130897266	130897266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:130897266G>A	ENST00000261655.4	-	15	2882	c.2719C>T	c.(2719-2721)Cct>Tct	p.P907S		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	907	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATGTTACAAGGAATAAGGCCA	0.463000													28	18					0	0	0.005443	0	0
COL22A1	169044	broad.mit.edu	37	8	139688824	139688824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139688824C>T	ENST00000303045.6	-	41	3573	c.3127G>A	c.(3127-3129)Ggc>Agc	p.G1043S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1023S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1043	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)			ACCCCAATGCCTGGGTCACCA	0.522000										HNSCC(7;0.00092)			5	4					0	0	0.000602	0	0
AK8	158067	broad.mit.edu	37	9	135601098	135601098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:135601098G>A	ENST00000298545.3	-	13	1938	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	473	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TTGGGCAGGGGATTAATGATC	0.582000													10	1					0	0	0.001855	0	0
LMTK3	114783	broad.mit.edu	37	19	49004630	49004630	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49004630C>T	ENST00000600059.1	-	9	1138	c.911G>A	c.(910-912)tGg>tAg	p.W304*	LMTK3_ENST00000270238.3_Nonsense_Mutation_p.W333*					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CAGTGGGATCCACAGGCGCTC	0.682000													10	16					0	0	0.000673	0	0
KCNK9	51305	broad.mit.edu	37	8	140630513	140630513	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:140630513C>T	ENST00000520439.1	-	2	1176	c.1113G>A	c.(1111-1113)cgG>cgA	p.R371R	KCNK9_ENST00000303015.1_Silent_p.R371R			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	371						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)			AAACGGACTTCCGGCGTTTCA	0.448000													75	71					0	0	0.003610	0	0
MUSK	4593	broad.mit.edu	37	9	113547935	113547935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:113547935G>A	ENST00000416899.2	+	11	1817	c.1691G>A	c.(1690-1692)aGg>aAg	p.R564K	MUSK_ENST00000374438.1_Missense_Mutation_p.R88K|MUSK_ENST00000189978.5_Missense_Mutation_p.R572K|MUSK_ENST00000374448.4_Missense_Mutation_p.R572K			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	572					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGTATCCAAGGAATAACATT	0.448000													67	19					0	0	0.003610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449912	85449912	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:85449912G>A	ENST00000393217.2	+	8	1402	c.1341G>A	c.(1339-1341)atG>atA	p.M447I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	447										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATCAAATATGAAAGAAAATG	0.299000													45	72					0	0	0.002222	0	0
USH1C	10083	broad.mit.edu	37	11	17552965	17552965	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17552965G>A	ENST00000005226.7	-	3	228	c.229C>T	c.(229-231)Ctg>Ttg	p.L77L	USH1C_ENST00000527720.1_Silent_p.L46L|USH1C_ENST00000527020.1_Silent_p.L77L|USH1C_ENST00000318024.4_Silent_p.L77L	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	77					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CGGGGGGTCAGCTGATCATAT	0.632000													9	8					0	0	0.004482	0	0
TENM3	55714	broad.mit.edu	37	4	183674674	183674674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:183674674G>A	ENST00000511685.1	+	21	4057	c.3934G>A	c.(3934-3936)Gga>Aga	p.G1312R	TENM3_ENST00000406950.2_Missense_Mutation_p.G1312R|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TGACCAAAATGGAATCATATC	0.383000													24	37					0	0	0.002299	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67214354	67214354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:67214354G>A	ENST00000290881.7	-	3	1086	c.160C>T	c.(160-162)Ccc>Tcc	p.P54S	KIAA0895L_ENST00000563902.1_Missense_Mutation_p.P54S|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.P54S			Q68EN5	K895L_HUMAN	KIAA0895-like	54	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						AGCGCTGGGGGGACTGCCAGA	0.652000													14	17					0	0	0.002450	0	0
BSN	8927	broad.mit.edu	37	3	49689666	49689666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49689666C>T	ENST00000296452.4	+	5	2791	c.2677C>T	c.(2677-2679)Ccc>Tcc	p.P893S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	893					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCAGCACTGCCCAAGAGGCG	0.662000													4	10					0	0	0.000602	0	0
SALL1	6299	broad.mit.edu	37	16	51174059	51174059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:51174059G>A	ENST00000440970.1	-	2	2214	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Nonsense_Mutation_p.Q692*	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	692					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCAGTTGCTGAAGCTTGGAC	0.532000													34	48					0	0	0.004289	0	0
RLBP1	6017	broad.mit.edu	37	15	89755083	89755083	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:89755083T>A	ENST00000268125.5	-	7	1014	c.575A>T	c.(574-576)gAa>gTa	p.E192V		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	192	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GATTTGAGTTTCCTCATTCTC	0.468000													19	29					0	0	0.006122	0	0
MEP1B	4225	broad.mit.edu	37	18	29795197	29795197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:29795197G>A	ENST00000269202.6	+	12	1779	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	MEP1B_ENST00000581447.1_Missense_Mutation_p.D578N	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	578	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.D578N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAAAGGAGATGATGTTTATAT	0.348000													20	27					0	0	0.001523	0	0
TRAV6	6956	broad.mit.edu	37	14	22236734	22236734	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22236734G>A	ENST00000390428.3	+	0	6																											AAACTAAACAGAATGGCTTTT	0.483000													36	61					0	0	0.004289	0	0
CPED1	79974	broad.mit.edu	37	7	120686958	120686958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:120686958G>A	ENST00000310396.5	+	4	918	c.451G>A	c.(451-453)Gat>Aat	p.D151N	CPED1_ENST00000340646.5_Missense_Mutation_p.D151N|CPED1_ENST00000450913.2_Missense_Mutation_p.D151N|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GGGCTCTTGGGATCTGCTCAT	0.333000													107	94					0	0	0.003610	0	0
HCN1	348980	broad.mit.edu	37	5	45462053	45462053	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:45462053G>A	ENST00000303230.4	-	3	963	c.906C>T	c.(904-906)atC>atT	p.I302I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	302						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.I302I(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						GCATCATGCCGATGAGATTAA	0.393000													20	23					0	0	0.001523	0	0
SLC10A6	345274	broad.mit.edu	37	4	87749254	87749254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:87749254C>T	ENST00000273905.6	-	4	800	c.653G>A	c.(652-654)gGa>gAa	p.G218E	SLC10A6_ENST00000505535.1_Intron	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	218						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ATTCCAAGATCCTTTCGCCAG	0.473000													26	34					0	0	0.004656	0	0
DOCK10	55619	broad.mit.edu	37	2	225670001	225670001	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:225670001G>A	ENST00000409592.3	-	36	4068	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	DOCK10_ENST00000258390.7_Nonsense_Mutation_p.R1325*			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1325							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGTCAAATCGAAGAGTTGAG	0.398000													54	91					0	0	0.003610	0	0
SYT9	143425	broad.mit.edu	37	11	7334794	7334794	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7334794G>A	ENST00000318881.6	+	3	903	c.666G>A	c.(664-666)ggG>ggA	p.G222G	SYT9_ENST00000396716.2_Silent_p.G190G	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	222	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		AGGCTTGTGGGAAACTGAACT	0.413000													19	29					0	0	0.000958	0	0
SLC9C2	284525	broad.mit.edu	37	1	173556831	173556831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:173556831G>A	ENST00000367714.3	-	5	918	c.496C>T	c.(496-498)Cgt>Tgt	p.R166C	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R64C|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	166					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTCACAGAACGAAGAGGATCT	0.299000													19	59					0	0	0.000958	0	0
EEF2	1938	broad.mit.edu	37	19	3977513	3977513	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3977513G>A	ENST00000309311.6	-	13	2251	c.2163C>T	c.(2161-2163)atC>atT	p.I721I		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	721						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGTGGGGATGATCTGGCCCC	0.662000													5	13					0	0	0.000602	0	0
SYT1	6857	broad.mit.edu	37	12	79693272	79693272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:79693272G>A	ENST00000261205.4	+	8	1408	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	SYT1_ENST00000393240.3_Missense_Mutation_p.V251M|SYT1_ENST00000457153.2_Missense_Mutation_p.V248M|SYT1_ENST00000552744.1_Missense_Mutation_p.V251M	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	251	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TATGAACACAGTGGATTTTGG	0.423000													25	31					0	0	0.003330	0	0
CHN2	1124	broad.mit.edu	37	7	29440302	29440302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:29440302C>T	ENST00000222792.6	+	6	964	c.434C>T	c.(433-435)tCa>tTa	p.S145L	CHN2_ENST00000495789.2_Missense_Mutation_p.S158L|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000546235.1_Missense_Mutation_p.S130L|CHN2_ENST00000539406.1_Missense_Mutation_p.S220L	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	145					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAGTACATTTCAAAAATGACA	0.408000													19	27					0	0	0.001216	0	0
PCSK7	9159	broad.mit.edu	37	11	117096732	117096732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117096732G>A	ENST00000320934.3	-	6	1405	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	259	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TCCAGTACCCGGATACCTAGG	0.542000			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	22					0	0	0.004990	0	0
AKR1C3	8644	broad.mit.edu	37	10	5138689	5138689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:5138689G>A	ENST00000380554.3	+	2	824	c.172G>A	c.(172-174)Gag>Aag	p.E58K	AKR1C3_ENST00000439082.2_5'UTR|AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000605149.1_Missense_Mutation_p.E35K	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	58					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ATACAATAATGAGGAGCAGGT	0.443000													36	48					0	0	0.004878	0	0
OR52H1	390067	broad.mit.edu	37	11	5566283	5566283	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5566283G>A	ENST00000322653.4	-	1	496	c.471C>T	c.(469-471)tcC>tcT	p.S157S	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTTCGAAAGGAGATGCCCA	0.473000													20	17					0	0	0.001216	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361947	105361947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:105361947G>A	ENST00000369774.4	-	15	3304	c.3028C>T	c.(3028-3030)Cga>Tga	p.R1010*	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Nonsense_Mutation_p.R845*|SH3PXD2A_ENST00000540321.1_Nonsense_Mutation_p.R877*|SH3PXD2A_ENST00000355946.2_Nonsense_Mutation_p.R982*			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1010					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGGACGCCTCGGAGGCCATCA	0.672000													9	24					0	0	0.000443	0	0
ACAT2	39	broad.mit.edu	37	6	160188084	160188084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:160188084C>T	ENST00000367048.4	+	3	1998	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	ACAT2_ENST00000541436.1_Missense_Mutation_p.P109S	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	80						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGCAGGAATTCCCTACTCTGT	0.498000													34	43					0	0	0.001951	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169400	90169400	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:90169400T>C	ENST00000333209.3	-	2	2380	c.1862A>G	c.(1861-1863)aAg>aGg	p.K621R		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	621										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGGGGTCTTCTTGCCAGAACC	0.572000													39	65					0	0	0.002522	0	0
DDX39A	10212	broad.mit.edu	37	19	14523405	14523405	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:14523405G>A	ENST00000242776.4	-	3	395	c.294C>T	c.(292-294)ttC>ttT	p.F98F	DDX39A_ENST00000454233.2_Silent_p.F98F	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	98	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TGGCCAGCACGAAGACCGCTG	0.637000													19	27					0	0	0.006122	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795943	21795943	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:21795943G>A	ENST00000206660.6	+	17	2872	c.2872G>A	c.(2872-2874)Gaa>Aaa	p.E958K	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E958K|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.E317K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.E615K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E920K|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.E284K			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	958	Interaction with RPGR.				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)		ATCTGAAGAGGAAAAGGCTTC	0.463000													4	13					0	0	0.000602	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148743890	148743890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:148743890C>T	ENST00000336498.3	+	2	406	c.167C>T	c.(166-168)gCc>gTc	p.A56V		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	56	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CTGTCAGTGGCCCAGCGGAAG	0.358000													20	36					0	0	0.002780	0	0
VILL	50853	broad.mit.edu	37	3	38042995	38042995	+	Missense_Mutation	SNP	C	C	T	rs145696544		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38042995C>T	ENST00000283713.6	+	12	1497	c.1231C>T	c.(1231-1233)Cat>Tat	p.H411Y	VILL_ENST00000383759.2_Missense_Mutation_p.H411Y|VILL_ENST00000465644.1_Missense_Mutation_p.H129Y			O15195	VILL_HUMAN	villin-like	411					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCCAAGCGTCATGGACAGCT	0.592000													23	34					0	0	0.001882	0	0
FILIP1	27145	broad.mit.edu	37	6	76023302	76023302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:76023302G>A	ENST00000393004.2	-	5	2467	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	FILIP1_ENST00000370020.1_Missense_Mutation_p.S650F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S749F			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	749										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGAAGTACAGAATAATCTAC	0.383000													48	49					0	0	0.003610	0	0
VPS13A	23230	broad.mit.edu	37	9	79932584	79932584	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:79932584C>T	ENST00000360280.3	+	40	5186	c.4926C>T	c.(4924-4926)atC>atT	p.I1642I	VPS13A_ENST00000376634.4_Silent_p.I1642I|VPS13A_ENST00000357409.5_Silent_p.I1642I|VPS13A_ENST00000376636.3_Silent_p.I1603I|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1642					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CACAAGTGATCGATATGTCAG	0.299000													31	4					0	0	0.004878	0	0
RIMS2	9699	broad.mit.edu	37	8	105263337	105263337	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105263337C>T	ENST00000507740.1	+	21	3455	c.3219C>T	c.(3217-3219)ccC>ccT	p.P1073P	RIMS2_ENST00000262231.10_Silent_p.P1098P|RIMS2_ENST00000406091.3_Silent_p.P1259P|RIMS2_ENST00000339750.2_Silent_p.P195P|RIMS2_ENST00000436393.2_Silent_p.P1277P	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1321					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCTGGAACCCCTTTACCAGC	0.363000										HNSCC(12;0.0054)			24	21					0	0	0.003330	0	0
OR6K3	391114	broad.mit.edu	37	1	158687789	158687789	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158687789G>A	ENST00000368146.1	-	1	164	c.165C>T	c.(163-165)atC>atT	p.I55I	OR6K3_ENST00000368145.1_Silent_p.I39I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGTTATCAATGATAATAAAAG	0.363000													54	134					0	0	0.003610	0	0
COL13A1	1305	broad.mit.edu	37	10	71688693	71688693	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:71688693G>A	ENST00000356340.3	+	26	1926	c.1389_splice	c.e26-1	p.G464_splice	COL13A1_ENST00000398966.3_Splice_Site_p.G442_splice|COL13A1_ENST00000357811.3_Splice_Site_p.G442_splice|COL13A1_ENST00000517713.1_Splice_Site_p.G442_splice|COL13A1_ENST00000398972.3_Splice_Site_p.G464_splice|COL13A1_ENST00000522165.1_Splice_Site_p.G445_splice|COL13A1_ENST00000398968.3_Splice_Site_p.G445_splice|COL13A1_ENST00000520133.1_Splice_Site_p.G413_splice|COL13A1_ENST00000398964.3_Splice_Site_p.G435_splice|COL13A1_ENST00000520267.1_Splice_Site_p.G407_splice|COL13A1_ENST00000398971.3_Splice_Site_p.G464_splice|COL13A1_ENST00000398974.3_Splice_Site_p.G452_splice|COL13A1_ENST00000398973.3_Splice_Site_p.G464_splice|COL13A1_ENST00000354547.3_Splice_Site_p.G442_splice|COL13A1_ENST00000398969.3_Splice_Site_p.G407_splice|COL13A1_ENST00000398978.3_Splice_Site_p.G464_splice			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	464	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TCTCTCCTAGGGGCCTCCTGG	0.527000													10	14					0	0	0.001368	0	0
FILIP1	27145	broad.mit.edu	37	6	76072564	76072564	+	Missense_Mutation	SNP	C	C	T	rs140731996		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:76072564C>T	ENST00000393004.2	-	3	567	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	FILIP1_ENST00000370020.1_Missense_Mutation_p.G17R|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000588761.1_RNA|FILIP1_ENST00000237172.7_Missense_Mutation_p.G116R|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000440220.1_RNA|RP11-415D17.3_ENST00000591821.1_RNA			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	116										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCCGCAGACCCGTAATGAGCC	0.502000													28	68					0	0	0.001271	0	0
LRRC45	201255	broad.mit.edu	37	17	79982614	79982614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:79982614C>T	ENST00000306688.3	+	3	670	c.328C>T	c.(328-330)Ctc>Ttc	p.L110F	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	110						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGGAAAACTCCTCCAACAGAA	0.607000													22	4					0	0	0.003954	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423303	107423303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:107423303C>T	ENST00000340010.5	-	11	1434	c.1250G>A	c.(1249-1251)gGt>gAt	p.G417D	SLC26A3_ENST00000422236.2_Missense_Mutation_p.G382D	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	417					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GATGATGGCACCAATAAGCCC	0.428000													45	32					0	0	0.003214	0	0
KCNQ3	3786	broad.mit.edu	37	8	133187814	133187814	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133187814G>A	ENST00000388996.4	-	5	1239	c.819C>T	c.(817-819)atC>atT	p.I273I	KCNQ3_ENST00000521134.1_Silent_p.I153I|KCNQ3_ENST00000519445.1_Silent_p.I273I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	273					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGAAGAAAGGATGAGTGTCA	0.488000													20	30					0	0	0.001523	0	0
HHIP	64399	broad.mit.edu	37	4	145627723	145627723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:145627723C>T	ENST00000296575.3	+	5	1527	c.872C>T	c.(871-873)cCc>cTc	p.P291L		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	291						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCATTCCATCCCAATTACAAG	0.408000													8	11					0	0	0.003080	0	0
NEB	4703	broad.mit.edu	37	2	152397999	152397999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152397999G>A	ENST00000397345.3	-	136	20846	c.20644C>T	c.(20644-20646)Ctt>Ttt	p.L6882F	NEB_ENST00000604864.1_Missense_Mutation_p.L6882F|NEB_ENST00000603639.1_Missense_Mutation_p.L6882F|NEB_ENST00000172853.10_Missense_Mutation_p.L5181F|NEB_ENST00000427231.2_Missense_Mutation_p.L6882F|NEB_ENST00000409198.1_Missense_Mutation_p.L5181F	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5181					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTCTTAAAAGATCAGGAGTA	0.468000													39	69					0	0	0.003610	0	0
SST	6750	broad.mit.edu	37	3	187386908	187386908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:187386908C>T	ENST00000287641.3	-	2	403	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	99					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	TTTGCGTTCTCGGGGTGCCAT	0.502000													71	99					0	0	0.003610	0	0
GGH	8836	broad.mit.edu	37	8	63948262	63948262	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:63948262G>A	ENST00000260118.6	-	2	579	c.177C>T	c.(175-177)tcC>tcT	p.S59S		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	59	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	ACTTTACATAGGACGCAGCAA	0.313000													34	94					0	0	0.002522	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559711	140559711	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140559711C>A	ENST00000239444.2	+	1	2341	c.2096C>A	c.(2095-2097)tCt>tAt	p.S699Y		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		699					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCTCGGTGTCTTCGCTCTTC	0.687000													30	22					2.09667e-21	3.94329e-21	0.003755	1	0
EXOC4	60412	broad.mit.edu	37	7	133160191	133160191	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:133160191A>T	ENST00000253861.4	+	8	1321	c.1292A>T	c.(1291-1293)aAg>aTg	p.K431M	EXOC4_ENST00000539845.1_Missense_Mutation_p.K330M|EXOC4_ENST00000393161.2_Missense_Mutation_p.K431M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	431					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TTTTTTGCCAAGAAGAAACCT	0.383000													49	150					0	0	0.003610	0	0
KMT2D	8085	broad.mit.edu	37	12	49426047	49426047	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:49426047G>A	ENST00000301067.7	-	39	12440	c.12441C>T	c.(12439-12441)tcC>tcT	p.S4147S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCTGGGTCATGGACCCAGGCT	0.587000													11	19					0	0	0.001368	0	0
MME	4311	broad.mit.edu	37	3	154886528	154886528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:154886528G>A	ENST00000460393.1	+	20	2042	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E	MME_ENST00000492661.1_Missense_Mutation_p.G641E|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.G641E|MME_ENST00000360490.2_Missense_Mutation_p.G641E|MME_ENST00000493237.1_Missense_Mutation_p.G641E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	641					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CAGCTTAATGGAATTAATACA	0.294000													25	36					0	0	0.004656	0	0
CPXM2	119587	broad.mit.edu	37	10	125557536	125557536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:125557536C>T	ENST00000241305.3	-	6	999	c.845G>A	c.(844-846)gGg>gAg	p.G282E	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	282	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GCAGATGCTCCCATTATCAAA	0.552000													21	21					0	0	0.001882	0	0
SPATA6	54558	broad.mit.edu	37	1	48877184	48877184	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:48877184G>A	ENST00000371847.3	-	5	521	c.357C>T	c.(355-357)caC>caT	p.H119H	SPATA6_ENST00000396199.3_Silent_p.H47H|SPATA6_ENST00000371843.3_Silent_p.H119H|SPATA6_ENST00000463938.1_5'UTR	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	119					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						TTGAATCATGGTGTCCAGACA	0.413000													23	32					0	0	0.003954	0	0
CD163	9332	broad.mit.edu	37	12	7640126	7640126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7640126C>T	ENST00000359156.4	-	8	2081	c.1879G>A	c.(1879-1881)Gga>Aga	p.G627R	CD163_ENST00000396620.3_Missense_Mutation_p.G660R|CD163_ENST00000432237.2_Missense_Mutation_p.G627R|CD163_ENST00000541972.1_Missense_Mutation_p.G615R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	627	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGGGCAACTCCACATTTAAGC	0.522000													31	41					0	0	0.001786	0	0
C5AR1	728	broad.mit.edu	37	19	47823763	47823763	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:47823763G>A	ENST00000355085.3	+	2	751	c.729G>A	c.(727-729)gtG>gtA	p.V243V		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	243					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CACTCAAGGTGGTGGTGGCAG	0.577000													22	37					0	0	0.001882	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418293	38418293	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38418293G>A	ENST00000322350.5	+	12	1966	c.1620G>A	c.(1618-1620)gtG>gtA	p.V540V	EGFLAM_ENST00000354891.3_Silent_p.V540V|EGFLAM_ENST00000336740.6_Silent_p.V306V|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	540	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CGCTCGCTGTGAATGGGAGGA	0.572000													21	25					0	0	0.001523	0	0
IGSF6	10261	broad.mit.edu	37	16	21658637	21658637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:21658637C>T	ENST00000268389.4	-	2	305	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	82	Ig-like C2-type.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CTTTTGCACCCGTCCAAGCAC	0.507000													13	33					0	0	0.003163	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192477	132192477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:132192477G>A	ENST00000359827.3	-	2	1938	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F	PLXNA4_ENST00000423507.2_Missense_Mutation_p.L326F|PLXNA4_ENST00000321063.4_Missense_Mutation_p.L326F|PLXNA4_ENST00000378539.5_Missense_Mutation_p.L326F			Q9HCM2	PLXA4_HUMAN	plexin A4	326	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGGACTCCAAGGGTCCTGCCA	0.587000													29	24					0	0	0.001512	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796438	69796438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69796438C>T	ENST00000251566.4	-	5	1160	c.1130G>A	c.(1129-1131)gGg>gAg	p.G377E	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G88E	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	377						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCATAGATCCCATTCATTCC	0.388000													19	24					0	0	0.000958	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77356335	77356335	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:77356335C>T	ENST00000282849.5	-	14	2479	c.2061G>A	c.(2059-2061)aaG>aaA	p.K687K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	687	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K687N(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTTCTCAGCCTTGCAGTACA	0.388000													26	43					0	0	0.004656	0	0
WDR62	284403	broad.mit.edu	37	19	36591688	36591688	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36591688C>T	ENST00000401500.2	+	23	2813	c.2778C>T	c.(2776-2778)tcC>tcT	p.S926S	WDR62_ENST00000270301.7_Silent_p.S926S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	926					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCACCCCTCCTTCCTGCCCC	0.612000													24	36					0	0	0.004656	0	0
LIPJ	142910	broad.mit.edu	37	10	90366539	90366539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:90366539G>A	ENST00000371939.3	+	11	1290	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	326					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTTACATTCTGAAATCACAAA	0.318000													27	46					0	0	0.003954	0	0
GALNT5	11227	broad.mit.edu	37	2	158140883	158140883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:158140883C>T	ENST00000259056.4	+	2	2029	c.1544C>T	c.(1543-1545)tCt>tTt	p.S515F		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	515	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCCTGAGATCTGTTCACAGT	0.488000													27	36					0	0	0.005443	0	0
OPTC	26254	broad.mit.edu	37	1	203472062	203472062	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:203472062C>T	ENST00000367222.2	+	6	869	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	251						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCTGCAGTTCCTTTACCTGT	0.577000													24	27					0	0	0.003954	0	0
IL18R1	8809	broad.mit.edu	37	2	103013104	103013104	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103013104G>A	ENST00000409599.1	+	12	1740	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	IL18R1_ENST00000233957.1_Missense_Mutation_p.E462K			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	462	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGGACTCCATGAAGCATTGGT	0.343000													22	38					0	0	0.001523	0	0
IGSF5	150084	broad.mit.edu	37	21	41143056	41143056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41143056G>A	ENST00000380588.4	+	4	735	c.632G>A	c.(631-633)gGg>gAg	p.G211E	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	211	Ig-like V-type 2.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				CAGAGCAATGGGACTTTGACT	0.527000													16	42					0	0	0.004990	0	0
CACNA1H	8912	broad.mit.edu	37	16	1262102	1262102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1262102G>A	ENST00000348261.5	+	25	4971	c.4723G>A	c.(4723-4725)Gag>Aag	p.E1575K	CACNA1H_ENST00000565831.1_Missense_Mutation_p.E1575K|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E1575K	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1575					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGGCGAGAGGAGAAGCGGCT	0.692000													14	22					0	0	0.001855	0	0
OR4N2	390429	broad.mit.edu	37	14	20295610	20295610	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20295610G>A	ENST00000568211.1	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I	OR4N2_ENST00000315947.1_Start_Codon_SNP_p.M1I			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGGGAAATGGAAAGCGAGA	0.373000													31	36					0	0	0.002445	0	0
NKAIN3	286183	broad.mit.edu	37	8	63492222	63492222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:63492222G>A	ENST00000523211.1	+	2	311	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	NKAIN3_ENST00000328472.5_Missense_Mutation_p.R60Q|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	60						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				TACAGACCTCGATACATAATG	0.323000													34	53					0	0	0.003271	0	0
CCDC108	255101	broad.mit.edu	37	2	219903697	219903697	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219903697G>A	ENST00000341552.5	-	3	157	c.74C>T	c.(73-75)tCt>tTt	p.S25F	CCDC108_ENST00000453220.1_Missense_Mutation_p.S25F|CCDC108_ENST00000441968.1_Missense_Mutation_p.S25F|CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000324264.6_5'UTR|CCDC108_ENST00000295729.2_Intron|CCDC108_ENST00000409865.3_Intron	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	25						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAAAGAAGAGGCAAATGA	0.408000													15	34					0	0	0.002450	0	0
LOC440040	440040	broad.mit.edu	37	11	49831596	49831596	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:49831596C>T	ENST00000527477.1	+	0	1821																											GAACGACATTCAGTGCAGTCT	0.428000													14	22					0	0	0.001855	0	0
CALCRL	10203	broad.mit.edu	37	2	188210969	188210969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:188210969C>T	ENST00000409998.1	-	16	2109	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	CALCRL_ENST00000410068.1_Missense_Mutation_p.G443E|CALCRL_ENST00000392370.3_Missense_Mutation_p.G443E|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	443						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GATGCTTTTTCCATTTAAGTG	0.358000													16	29					0	0	0.001523	0	0
CACNA1E	777	broad.mit.edu	37	1	181745296	181745296	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181745296C>T	ENST00000526775.1	+	37	5307	c.5142C>T	c.(5140-5142)tcC>tcT	p.S1714S	CACNA1E_ENST00000367567.4_Silent_p.S1340S|CACNA1E_ENST00000367570.1_Silent_p.S1733S|CACNA1E_ENST00000360108.3_Silent_p.S1714S|CACNA1E_ENST00000357570.5_Silent_p.S1684S|CACNA1E_ENST00000367573.2_Silent_p.S1733S|CACNA1E_ENST00000358338.5_Silent_p.S1665S	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1733					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCGGGACTCCTCCATCCTGG	0.597000													44	95					0	0	0.003214	0	0
OR2G2	81470	broad.mit.edu	37	1	247751937	247751937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247751937G>A	ENST00000320065.1	+	1	276	c.276G>A	c.(274-276)atG>atA	p.M92I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGGAACCCATGAAAACTATCG	0.522000													49	55					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110420401	110420401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110420401C>T	ENST00000378402.5	+	18	2041	c.1937C>T	c.(1936-1938)tCt>tTt	p.S646F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	646					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGATCGCTTCTAAGCCACTC	0.443000										HNSCC(38;0.096)			24	43					0	0	0.003954	0	0
MAP3K7CL	56911	broad.mit.edu	37	21	30532351	30532351	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:30532351G>A	ENST00000399935.2	+	9	889	c.222G>A	c.(220-222)aaG>aaA	p.K74K	MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399925.1_Silent_p.K74K|MAP3K7CL_ENST00000399928.1_Silent_p.K74K|MAP3K7CL_ENST00000341618.4_Silent_p.K174K|MAP3K7CL_ENST00000399934.1_Silent_p.K74K|MAP3K7CL_ENST00000399926.1_Silent_p.K74K|MAP3K7CL_ENST00000399947.2_Silent_p.K174K|MAP3K7CL_ENST00000545939.1_Silent_p.K68K|MAP3K7CL_ENST00000339024.4_Silent_p.K74K					MAP3K7 C-terminal like									p.K174N(1)									AGGTCAAAAAGGAAATCACCC	0.522000													26	53					0	0	0.001061	0	0
TFIP11	24144	broad.mit.edu	37	22	26895212	26895212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26895212G>A	ENST00000407690.1	-	9	1470	c.1187C>T	c.(1186-1188)aCc>aTc	p.T396I	TFIP11_ENST00000407431.1_Missense_Mutation_p.T396I|TFIP11_ENST00000407148.1_Missense_Mutation_p.T396I|TFIP11_ENST00000405938.1_Missense_Mutation_p.T396I	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	396					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTCGTCCAGGGTGAGGGGGTT	0.607000													15	17					0	0	0.003163	0	0
MUC5B	727897	broad.mit.edu	37	11	1271063	1271063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1271063C>T	ENST00000447027.1	+	31	13020	c.12962C>T	c.(12961-12963)tCc>tTc	p.S4321F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4318F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4318	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)		GCCACCAAATCCACAGCTACC	0.612000													32	47					0	0	0.001485	0	0
TKTL2	84076	broad.mit.edu	37	4	164394716	164394716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:164394716C>T	ENST00000280605.3	-	1	331	c.171G>A	c.(169-171)atG>atA	p.M57I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	57						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTTATACTTCATCGTGTGGA	0.577000													7	16					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179605449	179605449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179605449C>T	ENST00000589042.1	-	48	12735	c.12511G>A	c.(12511-12513)Gag>Aag	p.E4171K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3808K|TTN_ENST00000591111.1_Missense_Mutation_p.E3854K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3933K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E4000K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3854							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)			GTCTCAGGCTCTTCAGGCATT	0.428000													29	53					0	0	0.001061	0	0
KIF2B	84643	broad.mit.edu	37	17	51900681	51900681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:51900681C>T	ENST00000268919.4	+	1	443	c.287C>T	c.(286-288)tCc>tTc	p.S96F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	96					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCGCCCTTATCCCCCTTGGCT	0.577000													104	16					0	0	0.003610	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784598	140784598	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140784598C>T	ENST00000573521.1	+	1	2079	c.2079C>T	c.(2077-2079)ctC>ctT	p.L693L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCTACCTCGTTGTGGCTG	0.597000													38	14					0	0	0.001706	0	0
EFCAB4A	283229	broad.mit.edu	37	11	829389	829389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:829389G>A	ENST00000450448.1	+	4	812	c.307G>A	c.(307-309)Gga>Aga	p.G103R	EFCAB4A_ENST00000528542.2_Missense_Mutation_p.G103R|AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000525077.1_Missense_Mutation_p.G103R	NM_173584.3	NP_775855.3	Q8N4Y2	EFC4A_HUMAN	EF-hand calcium binding domain 4A	103					store-operated calcium entry		calcium ion binding			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTCAGCCCAGGGAGCGAACCC	0.677000													5	8					0	0	0.001984	0	0
TRAV40	28641	broad.mit.edu	37	14	22783131	22783131	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22783131G>A	ENST00000390467.3	+	0	97																											CGTCTCGGAGGGAGCATCTGT	0.498000													17	31					0	0	0.004007	0	0
PVRL4	81607	broad.mit.edu	37	1	161044479	161044479	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:161044479C>T	ENST00000368012.3	-	5	1224	c.922G>A	c.(922-924)Gag>Aag	p.E308K	PVRL4_ENST00000453926.2_Missense_Mutation_p.E42K	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	308	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCGCTGTGCTCAGTGGTCAGT	0.572000													12	37					0	0	0.001855	0	0
PVR	5817	broad.mit.edu	37	19	45153139	45153139	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45153139C>T	ENST00000425690.3	+	3	785	c.486C>T	c.(484-486)ccC>ccT	p.P162P	PVR_ENST00000406449.4_Silent_p.P162P|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Silent_p.P162P|PVR_ENST00000403059.4_Silent_p.P162P	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	162	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		AGCCAGTGCCCATGGCCCGCT	0.612000													97	126					0	0	0.003610	0	0
KIF4B	285643	broad.mit.edu	37	5	154396832	154396832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:154396832C>T	ENST00000435029.4	+	1	3573	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1138	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			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)			ACCCAGGATTCCGAAGGCTCC	0.537000													14	6					0	0	0.002450	0	0
SLIT3	6586	broad.mit.edu	37	5	168233482	168233482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:168233482G>A	ENST00000519560.1	-	9	1323	c.904C>T	c.(904-906)Cct>Tct	p.P302S	SLIT3_ENST00000404867.3_Missense_Mutation_p.P302S|SLIT3_ENST00000332966.8_Missense_Mutation_p.P302S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	302	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAGTTGGCAGGAATCTCCATC	0.577000													22	8					0	0	0.003330	0	0
SRCAP	10847	broad.mit.edu	37	16	30740727	30740727	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:30740727C>T	ENST00000262518.4	+	27	6346	c.5961C>T	c.(5959-5961)ccC>ccT	p.P1987P	SRCAP_ENST00000395059.2_Silent_p.P1925P|SRCAP_ENST00000344771.4_Silent_p.P1829P	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1987					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGCACCTCCCCCTTCCCTGC	0.587000													7	19					0	0	0.001984	0	0
AADACL2	344752	broad.mit.edu	37	3	151475197	151475197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151475197G>A	ENST00000356517.3	+	5	1130	c.1021G>A	c.(1021-1023)Gat>Aat	p.D341N	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	341						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTGTCAACATGATCTCTTAAG	0.383000													38	64					0	0	0.001287	0	0
FUT11	170384	broad.mit.edu	37	10	75533491	75533491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:75533491C>T	ENST00000372841.3	+	2	1295	c.1252C>T	c.(1252-1254)Cac>Tac	p.H418Y	FUT11_ENST00000394790.1_Missense_Mutation_p.H418Y|FUT11_ENST00000465695.1_3'UTR	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	418					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CTTTGAGCCCCACATTGCCCA	0.602000													28	27					0	0	0.004656	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168801	142168801	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142168801C>T	ENST00000454561.2	-	0	244																											CTCACCTGCTCCCAGGAGACA	0.627000													25	12					0	0	0.001271	0	0
KRT4	3851	broad.mit.edu	37	12	53207852	53207852	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53207852G>A	ENST00000293774.4	-	1	483	c.213C>T	c.(211-213)ctC>ctT	p.L71L	KRT4_ENST00000551956.1_5'UTR			B4DRS2	B4DRS2_HUMAN	keratin 4	0						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TGGCTGCAGAGAGCGAGCTGG	0.627000													20	29					0	0	0.001882	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676627	65676627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:65676627G>A	ENST00000352385.2	-	20	3682	c.3473C>T	c.(3472-3474)cCc>cTc	p.P1158L	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1158						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGGCAGGGGGTCCTCAGG	0.612000													13	22					0	0	0.003163	0	0
PCDH10	57575	broad.mit.edu	37	4	134084147	134084147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:134084147C>T	ENST00000264360.4	+	4	3639	c.2813C>T	c.(2812-2814)tCc>tTc	p.S938F		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	938					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)		GATCTCTTCTCCAATTGCACT	0.463000													24	39					0	0	0.001061	0	0
CDH9	1007	broad.mit.edu	37	5	26906079	26906079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:26906079C>T	ENST00000231021.4	-	5	972	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	267	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R267Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGGGAAATCGAGGAGGGTT	0.428000													72	109					0	0	0.003610	0	0
FDCSP	260436	broad.mit.edu	37	4	71099797	71099797	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71099797C>T	ENST00000317987.5	+	4	263	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	51	Pro-rich.					extracellular region		p.R51C(1)									ATATCCATTTCGCCCACTTCC	0.403000													71	74					0	0	0.003610	0	0
AGT	183	broad.mit.edu	37	1	230839076	230839076	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:230839076C>T	ENST00000366667.4	-	5	1484		c.e5-1			NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGTTCAGCACCTGCAAAGCAG	0.567000													20	19					0	0	0.001216	0	0
PRB2	653247	broad.mit.edu	37	12	11546143	11546143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:11546143C>T	ENST00000389362.4	-	3	904	c.869G>A	c.(868-870)gGa>gAa	p.G290E	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGCTGCCTCCTTGTGGGGG	0.612000													88	101					0	0	0.003610	0	0
LGSN	51557	broad.mit.edu	37	6	63990145	63990145	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:63990145G>A	ENST00000370657.4	-	4	1344	c.1311C>T	c.(1309-1311)gtC>gtT	p.V437V	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	437					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GACCAGCCAAGACCTCATTAC	0.463000													33	45					0	0	0.002096	0	0
CD163L1	283316	broad.mit.edu	37	12	7550916	7550916	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7550916C>T	ENST00000313599.3	-	7	1730	c.1673G>A	c.(1672-1674)aGt>aAt	p.S558N	CD163L1_ENST00000416109.2_Missense_Mutation_p.S568N|CD163L1_ENST00000396630.1_Missense_Mutation_p.S558N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	558	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCCCATCCACTGTGTTCACA	0.388000													27	46					0	0	0.001271	0	0
NOM1	64434	broad.mit.edu	37	7	156746968	156746968	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:156746968C>T	ENST00000275820.3	+	3	1299	c.1284C>T	c.(1282-1284)atC>atT	p.I428I	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	428	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TAGTCAGCATCCTTCACCACA	0.498000													24	23					0	0	0.003954	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28476733	28476733	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:28476733C>T	ENST00000383768.2	+	4	653	c.465C>T	c.(463-465)ttC>ttT	p.F155F	ZCWPW2_ENST00000421010.1_Silent_p.F155F			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	155	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGGCAACATTCGTTGGACATT	0.333000													41	44					0	0	0.003610	0	0
CDHR2	54825	broad.mit.edu	37	5	175992384	175992384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:175992384C>T	ENST00000510636.1	+	2	305	c.31C>T	c.(31-33)Ctt>Ttt	p.L11F	CDHR2_ENST00000506348.1_Missense_Mutation_p.L11F|CDHR2_ENST00000261944.5_Missense_Mutation_p.L11F	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	11					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGCTTCCTCCTTCCTGCCCT	0.622000													15	11					0	0	0.000958	0	0
XIST	7503	broad.mit.edu	37	X	73068992	73068992	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73068992G>A	ENST00000429829.1	-	0	3596					NR_001564.2																						TAGTCTTCATGATTAATGGGT	0.408000													29	2					0	0	0.001786	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94918017	94918017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:94918017G>A	ENST00000289495.5	+	17	3881	c.3665G>A	c.(3664-3666)gGa>gAa	p.G1222E	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G1300E|PPP1R9A_ENST00000456331.2_Intron|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G1024E|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G1024E|PPP1R9A_ENST00000424654.1_Intron	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	1024						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGTTGGATGGAAATAAACTT	0.368000										HNSCC(28;0.073)			25	23					0	0	0.001061	0	0
ZAN	7455	broad.mit.edu	37	7	100371095	100371095	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100371095C>T	ENST00000542585.1	+	0	5761				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTGCACTGACCCAGCGGGCT	0.637000													11	12					0	0	0.000978	0	0
HEG1	57493	broad.mit.edu	37	3	124732113	124732113	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:124732113G>A	ENST00000311127.4	-	6	2377	c.2310C>T	c.(2308-2310)ctC>ctT	p.L770L		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	770						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GACTACTATGGAGCATTGTCA	0.493000													58	102					0	0	0.003610	0	0
LTBP3	4054	broad.mit.edu	37	11	65321212	65321212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:65321212G>A	ENST00000301873.5	-	3	1092	c.824C>T	c.(823-825)cCc>cTc	p.P275L	LTBP3_ENST00000322147.4_Missense_Mutation_p.P275L|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	275						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GCGGCCCAGGGGCTTCTGGGT	0.667000													4	3					0	0	0.000602	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6974614	6974614	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6974614C>T	ENST00000600751.1	-	0	768					NR_024075.1																						CATCCCTTTTCGTTTACTAAA	0.403000													14	26					0	0	0.003163	0	0
HOXD3	3232	broad.mit.edu	37	2	177034194	177034194	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:177034194C>A	ENST00000468418.3	+	3	2442	c.352C>A	c.(352-354)Caa>Aaa	p.Q118K	HOXD3_ENST00000249440.3_Missense_Mutation_p.Q118K|HOXD3_ENST00000410016.1_Missense_Mutation_p.Q118K			P31249	HXD3_HUMAN	homeobox D3	118	Poly-Pro.				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCAGccaccacaaccccctcc	0.637000													8	21					5.4927e-09	1.02693e-08	0.004482	1	0
FAT3	120114	broad.mit.edu	37	11	92495116	92495116	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92495116C>A	ENST00000298047.6	+	4	3781	c.3764C>A	c.(3763-3765)cCa>cAa	p.P1255Q	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.P1255Q|FAT3_ENST00000525166.1_Missense_Mutation_p.P1105Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1255	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCCAGTTCCCAGAGAAGGTC	0.488000										TCGA Ovarian(4;0.039)			10	263					0.00136819	0.00254499	0.001368	1	0
HIP1	3092	broad.mit.edu	37	7	75189161	75189161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:75189161G>A	ENST00000336926.6	-	14	1276	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	HIP1_ENST00000434438.2_Missense_Mutation_p.A417V	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	417	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGCTGCTCGGCCAGATCTGC	0.667000			T	PDGFRB	CMML								36	5					0	0	0.005524	0	0
EPPK1	83481	broad.mit.edu	37	8	144944646	144944646	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144944646G>A	ENST00000525985.1	-	2	2847	c.2776C>T	c.(2776-2778)Ctg>Ttg	p.L926L				P58107	EPIPL_HUMAN	epiplakin 1	926						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCCGCACAGGTACCTGCGG	0.677000													15	21					0	0	0.006122	0	0
PKD1	5310	broad.mit.edu	37	16	2159291	2159291	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2159291G>A	ENST00000262304.4	-	15	6085	c.5877C>T	c.(5875-5877)gcC>gcT	p.A1959A	PKD1_ENST00000423118.1_Silent_p.A1959A	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1959	PKD 15.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCTGCGCCTGGGCCCAGCTCA	0.687000													8	6					0	0	0.003080	0	0
BCOR	54880	broad.mit.edu	37	X	39923790	39923790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:39923790G>A	ENST00000342274.4	-	7	3663	c.3301C>T	c.(3301-3303)Cct>Tct	p.P1101S	BCOR_ENST00000397354.3_Missense_Mutation_p.P1101S|BCOR_ENST00000378463.1_5'UTR|BCOR_ENST00000378444.4_Missense_Mutation_p.P1101S|BCOR_ENST00000378455.4_Missense_Mutation_p.P1083S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1101					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTCTCCACAGGAAGATCTTTG	0.592000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						24	4					0	0	0.003330	0	0
OR2F1	26211	broad.mit.edu	37	7	143657094	143657094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143657094G>A	ENST00000392899.1	+	1	68	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E11K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTGGGTGAGTGAATTTATTCT	0.438000													42	120					0	0	0.003610	0	0
PANX1	24145	broad.mit.edu	37	11	93911662	93911662	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:93911662A>T	ENST00000227638.3	+	3	834	c.449A>T	c.(448-450)tAc>tTc	p.Y150F	PANX1_ENST00000436171.2_Missense_Mutation_p.Y150F	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	150					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GACAAAGTTTACAACCGTGCA	0.498000													31	36					0	0	0.001512	0	0
RGPD4	285190	broad.mit.edu	37	2	108488225	108488225	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108488225G>A	ENST00000408999.3	+	20	3842	c.3765G>A	c.(3763-3765)agG>agA	p.R1255R	RGPD4_ENST00000354986.4_Silent_p.R1255R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1255					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGATTTAAGGGAAGATGCTT	0.448000													128	188					0	0	0.003610	0	0
AMPH	273	broad.mit.edu	37	7	38534094	38534094	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:38534094G>A	ENST00000356264.2	-	4	454	c.239C>T	c.(238-240)tCg>tTg	p.S80L	AMPH_ENST00000428293.2_Missense_Mutation_p.S80L|AMPH_ENST00000325590.5_Missense_Mutation_p.S80L	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	80	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTCATGCAGCGACTCTGTGAG	0.532000													58	56					0	0	0.003610	0	0
LCT	3938	broad.mit.edu	37	2	136570403	136570403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:136570403G>A	ENST00000264162.2	-	7	1841	c.1831C>T	c.(1831-1833)Cca>Tca	p.P611S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	611	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGCCTCTCTGGAGACAGGGGT	0.587000													8	21					0	0	0.000673	0	0
KDM5B	10765	broad.mit.edu	37	1	202710800	202710800	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:202710800G>A	ENST00000367265.3	-	19	3804	c.2640C>T	c.(2638-2640)ctC>ctT	p.L880L	KDM5B_ENST00000367264.2_Silent_p.L916L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	880					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTCCTCAGAGAGTAGTTTCT	0.398000													34	33					0	0	0.003755	0	0
JPH2	57158	broad.mit.edu	37	20	42789047	42789047	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:42789047C>T	ENST00000372980.3	-	2	1252	c.379_splice	c.e2-1	p.G127_splice		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	127	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TTGGTACGTCCCTGCGGGCGA	0.721000													5	16					0	0	0.001984	0	0
OR4C13	283092	broad.mit.edu	37	11	49974138	49974138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:49974138C>T	ENST00000555099.1	+	1	196	c.164C>T	c.(163-165)tCc>tTc	p.S55F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCACTGAGATCCCCCATGTAC	0.428000													75	113					0	0	0.003610	0	0
WLS	79971	broad.mit.edu	37	1	68603577	68603577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:68603577G>A	ENST00000262348.4	-	11	1655	c.1402C>T	c.(1402-1404)Caa>Taa	p.Q468*	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Nonsense_Mutation_p.Q468*|WLS_ENST00000354777.2_Nonsense_Mutation_p.Q466*|WLS_ENST00000370976.3_Nonsense_Mutation_p.Q377*	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	468					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTGTTCACTTGGACTGTGACG	0.438000													26	29					0	0	0.001061	0	0
ZNF445	353274	broad.mit.edu	37	3	44492900	44492900	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:44492900G>A	ENST00000425708.2	-	3	845	c.504C>T	c.(502-504)tcC>tcT	p.S168S	ZNF445_ENST00000396077.2_Silent_p.S168S			P59923	ZN445_HUMAN	zinc finger protein 445	168					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GTGAAGCAAGGGACCATATCT	0.572000													30	50					0	0	0.002445	0	0
IL7R	3575	broad.mit.edu	37	5	35867441	35867441	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35867441C>T	ENST00000303115.3	+	3	384	c.255C>T	c.(253-255)ttC>ttT	p.F85F	IL7R_ENST00000343305.4_Silent_p.F85F|IL7R_ENST00000506850.1_Silent_p.F85F|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000511982.1_Silent_p.F85F	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	85					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GCCTGAATTTCAGGAAACTAC	0.403000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						29	47					0	0	0.002836	0	0
FOXP1	27086	broad.mit.edu	37	3	71247353	71247353	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:71247353C>T	ENST00000318789.4	-	6	705	c.180_splice	c.e6+1	p.Q60_splice	FOXP1_ENST00000484350.1_Splice_Site_p.Q60_splice|FOXP1_ENST00000498215.1_Splice_Site_p.Q60_splice|FOXP1_ENST00000493089.1_Splice_Site_p.Q60_splice|FOXP1_ENST00000468577.1_Splice_Site_p.Q60_splice|FOXP1_ENST00000318779.3_Splice_Site_p.Q60_splice|FOXP1_ENST00000475937.1_Splice_Site_p.Q60_splice	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	60	Gln-rich.	Breakpoint for translocation to form PAX5-FOXP1.			cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGCCCAGTACCTGTTGCTGCT	0.592000			T	PAX5	ALL								13	39					0	0	0.001855	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415687	74415687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:74415687C>T	ENST00000376332.3	-	7	1091	c.595G>A	c.(595-597)Gat>Aat	p.D199N	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.D199N	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	199					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GAACATGGATCCTGAGGATGT	0.597000													13	10					0	0	0.001855	0	0
MYH4	4622	broad.mit.edu	37	17	10364263	10364263	+	Missense_Mutation	SNP	C	C	T	rs148182083		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10364263C>T	ENST00000255381.2	-	12	1227	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	373	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTGCTCTTCCCTTTGCTTT	0.498000													62	9					0	0	0.003610	0	0
OR14K1	343170	broad.mit.edu	37	1	247902189	247902189	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247902189C>T	ENST00000283225.2	+	1	273	c.273C>T	c.(271-273)tcC>tcT	p.S91S	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						ACTCCATCTCCTTCCTGGGGT	0.512000													19	52					0	0	0.001882	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605429	140605429	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140605429G>A	ENST00000239449.4	+	1	2352	c.2352G>A	c.(2350-2352)ggG>ggA	p.G784G	PCDHB14_ENST00000515856.2_Silent_p.G631G	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		784					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAATATGGGGGAAATCGAGA	0.373000													25	15					0	0	0.002780	0	0
CYP2A6	1548	broad.mit.edu	37	19	41355868	41355868	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:41355868G>A	ENST00000301141.5	-	2	218	c.198C>T	c.(196-198)ggC>ggT	p.G66G	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	66					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TGAACACGGGGCCATAGCGCT	0.617000													23	29					0	0	0.003755	0	0
OR2A5	393046	broad.mit.edu	37	7	143748193	143748193	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143748193C>A	ENST00000408906.2	+	1	733	c.699C>A	c.(697-699)ggC>ggA	p.G233G		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGGGGAGGGCCGCAGAAAGG	0.617000													30	81					2.61193e-14	4.89782e-14	0.001786	1	0
HHATL	57467	broad.mit.edu	37	3	42738351	42738351	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:42738351G>A	ENST00000441594.1	-	9	1290	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	HHATL_ENST00000310417.5_Silent_p.I343I	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	343					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCAGTCGTTGATGCCACGGT	0.582000													4	8					0	0	0.000248	0	0
SLC9C2	284525	broad.mit.edu	37	1	173486714	173486714	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:173486714C>T	ENST00000367714.3	-	23	3291	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	957					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TATTCAATTTCACGCTTAAGC	0.368000													75	58					0	0	0.003610	0	0
EML5	161436	broad.mit.edu	37	14	89178744	89178744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:89178744C>T	ENST00000554922.1	-	10	1776	c.1528G>A	c.(1528-1530)Gga>Aga	p.G510R	EML5_ENST00000380664.5_Missense_Mutation_p.G510R|EML5_ENST00000352093.5_Missense_Mutation_p.G510R	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	510						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCCAAATTCCATTTACTTCA	0.343000													46	14					0	0	0.003610	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881913	228881913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228881913C>T	ENST00000392056.3	-	7	3703	c.3657G>A	c.(3655-3657)tgG>tgA	p.W1219*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.W1219*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1219						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGCCGGCTGTCCAATCCTGGC	0.572000													25	37					0	0	0.003954	0	0
DGKI	9162	broad.mit.edu	37	7	137076046	137076046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:137076046C>T	ENST00000453654.1	-	33	2664	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N	DGKI_ENST00000288490.5_Missense_Mutation_p.D1040N|DGKI_ENST00000446122.1_Missense_Mutation_p.D1022N|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000424189.2_Missense_Mutation_p.D1053N			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1040					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AAGTCTGGGTCCCCAGCCTGC	0.468000													76	9					0	0	0.003610	0	0
CCDC141	285025	broad.mit.edu	37	2	179710452	179710452	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179710452C>T	ENST00000420890.2	-	22	3492	c.3375G>A	c.(3373-3375)aaG>aaA	p.K1125K	CCDC141_ENST00000295723.5_Silent_p.K550K|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	550							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCGGATTCATCTTTAAAACAT	0.373000													11	15					0	0	0.001368	0	0
DOCK2	1794	broad.mit.edu	37	5	169506040	169506040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:169506040C>T	ENST00000256935.8	+	49	5136	c.5056C>T	c.(5056-5058)Ccg>Tcg	p.P1686S	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.P747S|DOCK2_ENST00000520908.1_Missense_Mutation_p.P1178S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1686					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGATCTCCCCGGGGAGCAC	0.557000													36	20					0	0	0.002222	0	0
CCDC116	164592	broad.mit.edu	37	22	21989446	21989446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:21989446C>T	ENST00000292779.3	+	4	1255	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	365										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCCTATGCTTCCCCCCGCCCC	0.632000													8	17					0	0	0.000443	0	0
TNPO2	30000	broad.mit.edu	37	19	12826066	12826066	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:12826066G>A	ENST00000425528.1	-	8	996	c.639C>T	c.(637-639)acC>acT	p.T213T	TNPO2_ENST00000441499.1_Silent_p.T213T|TNPO2_ENST00000592287.1_Silent_p.T213T|TNPO2_ENST00000450764.2_Silent_p.T213T|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Silent_p.T213T|TNPO2_ENST00000356861.5_Silent_p.T213T			O14787	TNPO2_HUMAN	transportin 2	213					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTCGATGAAGGTGTCAATAT	0.647000													13	10					0	0	0.002450	0	0
DUSP27	92235	broad.mit.edu	37	1	167097262	167097262	+	Missense_Mutation	SNP	C	C	T	rs147653213		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:167097262C>T	ENST00000361200.2	+	6	3060	c.2894C>T	c.(2893-2895)tCg>tTg	p.S965L	DUSP27_ENST00000271385.5_Missense_Mutation_p.S965L|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.S965L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	965	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACACCAGATCGTCCCTGCTC	0.502000													22	38					0	0	0.001882	0	0
IGKV4-1	28908	broad.mit.edu	37	2	89185111	89185111	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:89185111C>T	ENST00000390243.2	+	0	199																											CCCAGGTCTTCATTTCTCTGT	0.423000													94	90					0	0	0.003610	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278668	130278668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:130278668C>T	ENST00000257359.6	-	7	2624	c.1918G>A	c.(1918-1920)Gcc>Acc	p.A640T		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	640	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTCACCTTGGCCTCGAACACT	0.642000													22	32					0	0	0.003330	0	0
OR4C13	283092	broad.mit.edu	37	11	49974880	49974880	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:49974880G>A	ENST00000555099.1	+	1	938	c.906G>A	c.(904-906)agG>agA	p.R302R		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGTGTAGTAGGAAAGCTATTT	0.383000													17	10					0	0	0.000958	0	0
POP1	10940	broad.mit.edu	37	8	99149177	99149177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:99149177C>T	ENST00000401707.2	+	9	1438	c.1357C>T	c.(1357-1359)Cac>Tac	p.H453Y	POP1_ENST00000349693.3_Missense_Mutation_p.H453Y	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	453					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TGCTTCTGTCCACACTGTAAG	0.378000													81	46					0	0	0.003610	0	0
DCAF12	25853	broad.mit.edu	37	9	34107373	34107373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:34107373G>A	ENST00000361264.4	-	3	865	c.524C>T	c.(523-525)cCt>cTt	p.P175L	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	175						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TACACACACAGGATCCAGCGT	0.488000													42	7					0	0	0.003610	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29974731	29974731	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29974731G>A	ENST00000376797.3	-	0	1346				ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							CGCGGTGGGTGGAGCAGGAGG	0.647000													3	2					0	0	0.000602	0	0
CSRNP3	80034	broad.mit.edu	37	2	166514530	166514530	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166514530G>A	ENST00000314499.7	+	5	784	c.408_splice	c.e5+1	p.K136_splice	CSRNP3_ENST00000342316.4_Splice_Site_p.K136_splice|CSRNP3_ENST00000409420.1_Splice_Site_p.K168_splice	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	136					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAAAACTAAAGGTAAAAAACA	0.403000													7	17					0	0	0.001984	0	0
ARAP1	116985	broad.mit.edu	37	11	72408231	72408231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:72408231G>A	ENST00000359373.5	-	22	3814	c.2963C>T	c.(2962-2964)tCc>tTc	p.S988F	ARAP1_ENST00000393605.3_Missense_Mutation_p.S748F|ARAP1_ENST00000455638.2_Missense_Mutation_p.S988F|ARAP1_ENST00000393609.3_Missense_Mutation_p.S988F|ARAP1_ENST00000334211.8_Missense_Mutation_p.S743F|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Missense_Mutation_p.S682F|ARAP1_ENST00000426523.1_Missense_Mutation_p.S743F			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	988	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GATGCCCTCGGAGGTCAGGCC	0.701000													51	78					0	0	0.003610	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190615320	190615320	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:190615320A>T	ENST00000264151.5	-	8	1331	c.1229T>A	c.(1228-1230)tTa>tAa	p.L410*	OSGEPL1_ENST00000519810.1_3'UTR|OSGEPL1_ENST00000522700.1_Nonsense_Mutation_p.L410*	NM_022353.2	NP_071748.2	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	410					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CTCCATTTTTAATTGTGGTAC	0.299000													5	11					0	0	0.001984	0	0
TAP2	6891	broad.mit.edu	37	6	32805562	32805562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32805562G>A	ENST00000374897.2	-	2	580	c.449C>T	c.(448-450)cCt>cTt	p.P150L	TAP2_ENST00000452392.2_Missense_Mutation_p.P150L|TAP2_ENST00000374899.4_Missense_Mutation_p.P150L	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	150					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AACGAGGAGAGGCAGGTCCGG	0.582000													16	31					0	0	0.004007	0	0
TSPAN33	340348	broad.mit.edu	37	7	128801540	128801540	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:128801540G>A	ENST00000289407.4	+	2	232	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	41						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TGGTGATGGTGGCTGTGGGTG	0.567000													22	121					0	0	0.002299	0	0
AMHR2	269	broad.mit.edu	37	12	53825060	53825060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53825060G>A	ENST00000257863.4	+	11	1605	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	AMHR2_ENST00000379791.3_Missense_Mutation_p.A414T|AMHR2_ENST00000550311.1_3'UTR	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	509	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCTGCCTTGGCCCATCCTCA	0.597000													21	20					0	0	0.001882	0	0
MACF1	23499	broad.mit.edu	37	1	39818805	39818805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:39818805G>A	ENST00000564288.1	+	44	12103	c.11326G>A	c.(11326-11328)Gga>Aga	p.G3776R	MACF1_ENST00000539005.1_Missense_Mutation_p.G1714R|MACF1_ENST00000289893.4_Missense_Mutation_p.G2216R|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.G1714R|MACF1_ENST00000372915.3_Missense_Mutation_p.G3781R|MACF1_ENST00000317713.7_Missense_Mutation_p.G1714R|MACF1_ENST00000361689.2_Missense_Mutation_p.G1714R|MACF1_ENST00000567887.1_Missense_Mutation_p.G3813R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3781					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCAGCTCTCGGGAGCTAGCTT	0.507000													24	45					0	0	0.003954	0	0
FLG	2312	broad.mit.edu	37	1	152285377	152285377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152285377G>A	ENST00000368799.1	-	3	2020	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	662	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCGTGATGGGACCTGGGGTG	0.547000									Ichthyosis				82	176					0	0	0.003610	0	0
DNMBP	23268	broad.mit.edu	37	10	101648593	101648593	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:101648593A>G	ENST00000342239.3	-	12	3437	c.3346T>C	c.(3346-3348)Ttc>Ctc	p.F1116L	DNMBP_ENST00000324109.4_Missense_Mutation_p.F1092L|DNMBP_ENST00000540316.1_Missense_Mutation_p.F28L|DNMBP_ENST00000543621.1_Missense_Mutation_p.F338L|DNMBP_ENST00000472036.1_5'UTR			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1092	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AAGTTTGTGAAGAGCTGGTCA	0.512000													12	21					0	0	0.003163	0	0
KRT76	51350	broad.mit.edu	37	12	53169341	53169341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53169341C>T	ENST00000332411.2	-	2	699	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	216	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGAGCAGTTCCCACTTGGTC	0.552000													39	66					0	0	0.001485	0	0
XKR4	114786	broad.mit.edu	37	8	56436024	56436024	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:56436024C>T	ENST00000327381.5	+	3	1291	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	397						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)			CCTCGGTTTTCCAGCTGTACT	0.512000													90	75					0	0	0.003610	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				67	13					0	0	0.003610	0	0
C14orf159	80017	broad.mit.edu	37	14	91636449	91636449	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:91636449C>T	ENST00000518868.1	+	8	1050	c.360C>T	c.(358-360)ttC>ttT	p.F120F	C14orf159_ENST00000523771.1_Silent_p.F120F|C14orf159_ENST00000522322.1_Silent_p.F120F|C14orf159_ENST00000525393.2_Silent_p.F4F|C14orf159_ENST00000523816.1_Silent_p.F120F|C14orf159_ENST00000256324.10_Silent_p.F120F|C14orf159_ENST00000521077.2_Silent_p.F120F|C14orf159_ENST00000412671.2_Silent_p.F120F|C14orf159_ENST00000428926.2_Silent_p.F120F|C14orf159_ENST00000520328.1_Silent_p.F120F			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	120						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGGTGGCCTTCTTCCTGGGCT	0.622000													33	11					0	0	0.002836	0	0
MYO5B	4645	broad.mit.edu	37	18	47488716	47488716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:47488716C>T	ENST00000285039.7	-	12	1764	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	489	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCATAAAAATCAATCAGGGTC	0.418000													16	30					0	0	0.004990	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18795486	18795486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:18795486G>A	ENST00000380548.4	+	20	4108	c.3769G>A	c.(3769-3771)Gga>Aga	p.G1257R	ADAMTSL1_ENST00000496521.2_3'UTR	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1257	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAATGCCTTGGGATACGACTC	0.453000													7	7					0	0	0.001984	0	0
TENM3	55714	broad.mit.edu	37	4	183245250	183245250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:183245250C>T	ENST00000511685.1	+	2	200	c.77C>T	c.(76-78)tCc>tTc	p.S26F	TENM3_ENST00000406950.2_Missense_Mutation_p.S26F					teneurin transmembrane protein 3																		TACACAAATTCCTCCGCAGAC	0.507000													12	18					0	0	0.001368	0	0
KLK11	11012	broad.mit.edu	37	19	51528013	51528013	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51528013G>A	ENST00000594768.1	-	3	359	c.174C>T	c.(172-174)ttC>ttT	p.F58F	KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000453757.3_Silent_p.F26F|KLK11_ENST00000600362.1_Intron|KLK11_ENST00000319720.7_Silent_p.F26F|KLK11_ENST00000391804.3_Silent_p.F26F	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	58	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GCTTGCACTCGAACCCCTTGA	0.627000													8	8					0	0	0.000443	0	0
PCDH17	27253	broad.mit.edu	37	13	58298822	58298822	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:58298822C>T	ENST00000377918.3	+	4	2900	c.2874C>T	c.(2872-2874)ttC>ttT	p.F958F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	958					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)		TGCCACAGTTCCCTGCAGCCA	0.443000													15	21					0	0	0.002450	0	0
DKK2	27123	broad.mit.edu	37	4	107847025	107847025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:107847025C>T	ENST00000285311.3	-	2	1009	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	DKK2_ENST00000513208.1_Missense_Mutation_p.V2M|DKK2_ENST00000510463.1_Missense_Mutation_p.V56M	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	102	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CTCCGACACACCATGCAGGCC	0.512000													32	50					0	0	0.002445	0	0
TAOK2	9344	broad.mit.edu	37	16	29998372	29998372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:29998372C>T	ENST00000308893.4	+	16	3822	c.2779C>T	c.(2779-2781)Cct>Tct	p.P927S	TAOK2_ENST00000416441.2_Missense_Mutation_p.P754S|TAOK2_ENST00000543033.1_Missense_Mutation_p.P814S|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	927					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCCCGACATCCCTCCTGAACC	0.647000													36	67					0	0	0.004878	0	0
CLDN1	9076	broad.mit.edu	37	3	190039947	190039947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:190039947C>T	ENST00000295522.3	-	1	317	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	17					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CCGATCCATCCCAGGAAGGCG	0.662000													15	25					0	0	0.000958	0	0
GALNTL5	168391	broad.mit.edu	37	7	151704932	151704932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:151704932G>A	ENST00000392800.2	+	7	1183	c.929G>A	c.(928-930)gGa>gAa	p.G310E	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.G310E	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	310	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATGTCTGGAGGAATTTTTGCT	0.328000													64	51					0	0	0.003610	0	0
DNAH6	1768	broad.mit.edu	37	2	84811345	84811345	+	Missense_Mutation	SNP	G	G	A	rs111548143		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:84811345G>A	ENST00000389394.3	+	15	2589	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	DNAH6_ENST00000237449.6_Missense_Mutation_p.E818K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E818K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	818	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTAAACAACGAAGTGAATGA	0.308000													23	36					0	0	0.002299	0	0
AKR1B10	57016	broad.mit.edu	37	7	134223737	134223737	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:134223737C>T	ENST00000359579.4	+	9	1196	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	292					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TACTCAGCTTCAACAGAAACT	0.428000													29	36					0	0	0.004878	0	0
RYR1	6261	broad.mit.edu	37	19	39062779	39062779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39062779G>A	ENST00000355481.4	+	94	13983	c.13852G>A	c.(13852-13854)Gat>Aat	p.D4618N	RYR1_ENST00000359596.3_Missense_Mutation_p.D4623N|RYR1_ENST00000360985.3_Missense_Mutation_p.D4618N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4623					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCAGAGGGCGATGAGGATGA	0.617000													34	71					0	0	0.005524	0	0
EPHA7	2045	broad.mit.edu	37	6	94120377	94120377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:94120377G>A	ENST00000369303.4	-	3	858	c.674C>T	c.(673-675)tCc>tTc	p.S225F	EPHA7_ENST00000369297.1_Missense_Mutation_p.S225F	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	225	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GACTAAAGAGGAAAATTCTGA	0.463000													15	40					0	0	0.003163	0	0
TBC1D31	93594	broad.mit.edu	37	8	124096453	124096453	+	Missense_Mutation	SNP	C	C	T	rs144033919		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:124096453C>T	ENST00000287380.1	+	4	482	c.392C>T	c.(391-393)tCg>tTg	p.S131L	TBC1D31_ENST00000521676.1_Missense_Mutation_p.S26L|TBC1D31_ENST00000522420.1_Missense_Mutation_p.S26L|TBC1D31_ENST00000327098.5_Missense_Mutation_p.S131L|TBC1D31_ENST00000378080.2_Missense_Mutation_p.S26L|TBC1D31_ENST00000309336.3_Missense_Mutation_p.S131L	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TCAGTATTTTCGATCTCTGTG	0.398000													74	59					0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94031935	94031935	+	Missense_Mutation	SNP	C	C	T	rs142718797	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:94031935C>T	ENST00000282020.4	+	4	824	c.566C>T	c.(565-567)tCt>tTt	p.S189F	GRID2_ENST00000510992.1_Missense_Mutation_p.S94F|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	189					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GACAAAGTCTCTCAGCAGGGA	0.393000													62	83					0	0	0.003610	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043299	71043299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71043299G>A	ENST00000272367.2	-	4	1290	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F	CLEC4F_ENST00000426626.1_Missense_Mutation_p.S405F	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	405					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTGGGTCTGGGAAGTTAAGGC	0.443000													24	36					0	0	0.002299	0	0
OR6C2	341416	broad.mit.edu	37	12	55846641	55846641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55846641C>T	ENST00000322678.1	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GTGATTCTGTCCTACTTGTAC	0.393000													35	76					0	0	0.004878	0	0
FMN2	56776	broad.mit.edu	37	1	240601478	240601478	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:240601478G>A	ENST00000319653.9	+	16	5258	c.5028G>A	c.(5026-5028)tgG>tgA	p.W1676*	FMN2_ENST00000545751.1_Nonsense_Mutation_p.W272*	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1676	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGACTTCTGGAAGAAAGAGA	0.388000													55	56					0	0	0.003610	0	0
CNR1	1268	broad.mit.edu	37	6	88854820	88854820	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:88854820G>A	ENST00000537554.1	-	2	3736	c.174C>T	c.(172-174)ttC>ttT	p.F58F	CNR1_ENST00000369499.2_Silent_p.F58F|CNR1_ENST00000428600.2_Silent_p.F58F|CNR1_ENST00000468898.1_Silent_p.F25F|CNR1_ENST00000535130.1_Silent_p.F58F|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000549716.1_Intron|CNR1_ENST00000549890.1_Silent_p.F58F|CNR1_ENST00000369501.2_Silent_p.F58F	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	58					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCTTCTCTTGGAAGGGACTTC	0.458000													12	18					0	0	0.001368	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042543	75042543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75042543C>T	ENST00000343932.4	+	2	527	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	155					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GACCCAGCTTCCTCATCCTCC	0.627000													36	62					0	0	0.005524	0	0
PZP	5858	broad.mit.edu	37	12	9322163	9322163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:9322163C>T	ENST00000261336.2	-	16	1892	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	PZP_ENST00000381997.2_Missense_Mutation_p.D491N	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTGGTGAGATCCTTCACAGTT	0.413000													13	24					0	0	0.001855	0	0
OR10R2	343406	broad.mit.edu	37	1	158450022	158450022	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158450022C>T	ENST00000368152.1	+	1	355	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	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	119					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)					CTGTTGTGCTCTTCAAATGTT	0.443000													158	127					0	0	0.003610	0	0
PALM	5064	broad.mit.edu	37	19	746527	746527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:746527G>A	ENST00000264560.7	+	8	939	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	PALM_ENST00000338448.5_Missense_Mutation_p.G293S|PALM_ENST00000606643.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	293					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		GATCCAGCCCGGCCAGGAGCC	0.677000													18	21					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179497958	179497958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179497958G>A	ENST00000589042.1	-	233	43266	c.43042C>T	c.(43042-43044)Cac>Tac	p.H14348Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H5283Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H12707Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H5408Y|TTN_ENST00000342992.6_Missense_Mutation_p.H11780Y|TTN_ENST00000342175.6_Missense_Mutation_p.H5475Y|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12707							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)			CACTGGCCGTGAACATCAGGT	0.448000													31	28					0	0	0.001271	0	0
ASH1L	55870	broad.mit.edu	37	1	155491261	155491261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155491261C>T	ENST00000368346.3	-	2	689	c.50G>A	c.(49-51)gGt>gAt	p.G17D	ASH1L_ENST00000392403.3_Missense_Mutation_p.G17D|ASH1L_ENST00000548830.1_Missense_Mutation_p.G17D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	17					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTTGAAAAACCTTCGGAATC	0.408000													90	88					0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052318	55052318	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:55052318G>A	ENST00000474759.1	+	35	3009	c.2961G>A	c.(2959-2961)ggG>ggA	p.G987G	CACNA2D3_ENST00000415676.2_Silent_p.G987G|CACNA2D3_ENST00000490478.1_Silent_p.G893G|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Silent_p.G987G	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	987						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G987>?(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGACTACAGGGAATATTGCTT	0.507000													6	11					0	0	0.001168	0	0
SLC9A4	389015	broad.mit.edu	37	2	103136374	103136374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:103136374G>A	ENST00000295269.4	+	9	2235	c.1778G>A	c.(1777-1779)aGg>aAg	p.R593K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	593					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						GAGTCCATAAGGGACATTCTG	0.438000													18	26					0	0	0.001882	0	0
ZNF430	80264	broad.mit.edu	37	19	21240107	21240107	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:21240107C>T	ENST00000261560.5	+	5	1174	c.993C>T	c.(991-993)caC>caT	p.H331H		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GGTCCTCACACCTTACTACAC	0.398000													21	30					0	0	0.001523	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763207	77763207	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77763207G>A	ENST00000521891.2	+	10	4498	c.4050G>A	c.(4048-4050)ccG>ccA	p.P1350P	ZFHX4_ENST00000518282.1_Silent_p.P1324P|ZFHX4_ENST00000050961.6_Silent_p.P1305P|ZFHX4_ENST00000455469.2_Silent_p.P1305P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1305						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)			AGCAGAAACCGACTAAAGAAC	0.398000										HNSCC(33;0.089)			14	33					0	0	0.001855	0	0
GPR116	221395	broad.mit.edu	37	6	46828586	46828586	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46828586G>A	ENST00000283296.7	-	16	2533	c.2245C>T	c.(2245-2247)Ctg>Ttg	p.L749L	GPR116_ENST00000545669.1_Silent_p.L178L|GPR116_ENST00000362015.4_Silent_p.L749L|GPR116_ENST00000265417.7_Silent_p.L749L|GPR116_ENST00000456426.2_Silent_p.L607L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	749					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGATCCTTCAGGTATGTAGGG	0.413000													22	36					0	0	0.003330	0	0
NANOG	79923	broad.mit.edu	37	12	7942271	7942271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7942271G>A	ENST00000229307.4	+	1	280	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	NANOG_ENST00000526286.1_Missense_Mutation_p.E21K	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	21					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CGACTGTAAAGAATCTTCACC	0.448000													37	87					0	0	0.005524	0	0
TMEM30A	55754	broad.mit.edu	37	6	75965936	75965936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:75965936G>A	ENST00000230461.6	-	7	1297	c.968C>T	c.(967-969)cCa>cTa	p.P323L	TMEM30A_ENST00000475111.2_Missense_Mutation_p.P287L|TMEM30A_ENST00000370050.5_Missense_Mutation_p.P204L	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	323						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCCAAAAATGGATTTTTTCC	0.368000													39	47					0	0	0.002222	0	0
GRINA	2907	broad.mit.edu	37	8	145065437	145065437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145065437C>T	ENST00000313269.5	+	2	324	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	GRINA_ENST00000395068.4_Missense_Mutation_p.P16S	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	16	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAACTATCCTCCCCCCAACCC	0.622000													16	18					0	0	0.004007	0	0
SGSM2	9905	broad.mit.edu	37	17	2264968	2264968	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:2264968C>T	ENST00000268989.3	+	3	348	c.171C>T	c.(169-171)cgC>cgT	p.R57R	SGSM2_ENST00000426855.2_Silent_p.R57R|SGSM2_ENST00000574563.1_Silent_p.R57R	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	57	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGCTGAGACGCCGTGCCGCTG	0.607000													22	3					0	0	0.002299	0	0
BANK1	55024	broad.mit.edu	37	4	102993522	102993522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:102993522G>A	ENST00000504592.1	+	19	2636	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	BANK1_ENST00000508653.1_Missense_Mutation_p.E622K|BANK1_ENST00000322953.4_Missense_Mutation_p.E755K|BANK1_ENST00000444316.2_Missense_Mutation_p.E725K|BANK1_ENST00000428908.1_Missense_Mutation_p.E622K			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	755					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGCCCACAATGAAAATAAGTT	0.259000													63	90					0	0	0.003610	0	0
SEC14L3	266629	broad.mit.edu	37	22	30857576	30857576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:30857576C>T	ENST00000403066.1	-	11	983	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	SEC14L3_ENST00000415957.2_Missense_Mutation_p.E234K|SEC14L3_ENST00000540910.1_Missense_Mutation_p.E216K|SEC14L3_ENST00000402286.1_Missense_Mutation_p.E216K|SEC14L3_ENST00000215812.4_Missense_Mutation_p.E293K|SEC14L3_ENST00000401751.1_Missense_Mutation_p.E234K|SEC14L3_ENST00000539629.1_Missense_Mutation_p.E234K			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	293	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATCTCGTATTCCACTTGGTGT	0.592000													11	10					0	0	0.000978	0	0
IGLC7	28834	broad.mit.edu	37	22	23265077	23265077	+	RNA	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:23265077T>C	ENST00000390331.1	+	0	312																											CCCTGCAGAATGCTCTTAGGC	0.652000													7	15					0	0	0.003080	0	0
COL11A1	1301	broad.mit.edu	37	1	103488462	103488462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:103488462C>T	ENST00000358392.2	-	8	1434	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	COL11A1_ENST00000353414.4_Missense_Mutation_p.E322K|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.E361K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	361	Nonhelical 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)		TCTTTGTTTTCATATAGTGTA	0.323000													29	46					0	0	0.001061	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399461	89399461	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:89399461G>A	ENST00000479981.1	-	0	268																											GAACTTTGATGGGACCCCACT	0.473000													47	56					0	0	0.003610	0	0
C16orf59	80178	broad.mit.edu	37	16	2514539	2514539	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2514539T>G	ENST00000483320.1	+	9	1284	c.671T>G	c.(670-672)cTc>cGc	p.L224R	C16orf59_ENST00000361837.4_Missense_Mutation_p.L391R|C16orf59_ENST00000563531.1_3'UTR|C16orf59_ENST00000569496.1_3'UTR			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	391										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ATGGCTGAACTCCTCCCCCTG	0.706000													12	11					0	0	0.001855	0	0
TANC1	85461	broad.mit.edu	37	2	160028664	160028664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:160028664C>T	ENST00000263635.6	+	11	1621	c.1384C>T	c.(1384-1386)Ccg>Tcg	p.P462S	TANC1_ENST00000454300.1_Missense_Mutation_p.P356S	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	462						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCATTTCACTCCGTTGCTTTC	0.463000													20	40					0	0	0.002780	0	0
POLG	5428	broad.mit.edu	37	15	89870573	89870573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:89870573G>A	ENST00000268124.5	-	7	1591	c.1258C>T	c.(1258-1260)Cac>Tac	p.H420Y	POLG_ENST00000442287.2_Missense_Mutation_p.H420Y	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	420					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GTCACTGGGTGGGGACACCTT	0.582000								DNA polymerases (catalytic subunits)					12	17					0	0	0.002450	0	0
CC2D1A	54862	broad.mit.edu	37	19	14038819	14038819	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:14038819C>T	ENST00000318003.7	+	23	2671	c.2430C>T	c.(2428-2430)gaC>gaT	p.D810D	CC2D1A_ENST00000589606.1_Silent_p.D810D	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	810					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGGTCATTGACCCTGTGCCGG	0.657000													25	47					0	0	0.003954	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76483656	76483656	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:76483656C>T	ENST00000307431.8	+	8	1354	c.969C>T	c.(967-969)ttC>ttT	p.F323F	CNTNAP4_ENST00000476707.1_Silent_p.F327F|CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000377504.4_Intron|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	324	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGTGTCATTCCCACATAGAA	0.348000													6	16					0	0	0.001168	0	0
FAT2	2196	broad.mit.edu	37	5	150924778	150924778	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:150924778C>T	ENST00000261800.5	-	9	5922	c.5910G>A	c.(5908-5910)caG>caA	p.Q1970Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1970	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTAGACATCCTGATCAAACT	0.478000													13	9					0	0	0.002450	0	0
CACNA1S	779	broad.mit.edu	37	1	201039456	201039456	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201039456C>T	ENST00000362061.3	-	17	2530	c.2304G>A	c.(2302-2304)gaG>gaA	p.E768E	CACNA1S_ENST00000367338.3_Silent_p.E768E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	768					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCACGGCCTTCTCTTTCAGCT	0.597000													27	79					0	0	0.001271	0	0
KRBA1	84626	broad.mit.edu	37	7	149426454	149426454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:149426454C>T	ENST00000255992.10	+	14	2200	c.1801C>T	c.(1801-1803)Cca>Tca	p.P601S	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Intron|KRBA1_ENST00000319551.8_Intron	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	602										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGTGGCTCCCAGAGGGTGA	0.607000													6	3					0	0	0.003080	0	0
METTL16	79066	broad.mit.edu	37	17	2405514	2405514	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:2405514G>A	ENST00000263092.5	-	2	239	c.112C>T	c.(112-114)Ctg>Ttg	p.L38L	METTL16_ENST00000571669.1_Intron|METTL16_ENST00000538844.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	38							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTTCCATTCAGATTTATCTGA	0.363000													61	10					0	0	0.003610	0	0
PARP10	84875	broad.mit.edu	37	8	145059154	145059154	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145059154G>A	ENST00000313028.7	-	5	1110	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_Missense_Mutation_p.P351L|PARP10_ENST00000524918.1_Missense_Mutation_p.P339L	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	339						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGACCCCATGGGACCTGTCCT	0.607000													27	43					0	0	0.001512	0	0
TLN2	83660	broad.mit.edu	37	15	63054609	63054609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:63054609C>T	ENST00000561311.1	+	38	5148	c.4918C>T	c.(4918-4920)Cat>Tat	p.H1640Y	TLN2_ENST00000472902.1_Missense_Mutation_p.H33Y|TLN2_ENST00000306829.6_Missense_Mutation_p.H1640Y			Q9Y4G6	TLN2_HUMAN	talin 2	1640					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGACATTCCCATACAGTGTC	0.562000													31	51					0	0	0.003271	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573706	140573706	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140573706C>T	ENST00000239446.4	+	1	1765	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGCTTTCGAGTTCCGCG	0.692000													8	24					0	0	0.003080	0	0
NLRP13	126204	broad.mit.edu	37	19	56421975	56421975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56421975G>A	ENST00000588751.1	-	6	2260	c.2236C>T	c.(2236-2238)Ctc>Ttc	p.L746F	NLRP13_ENST00000342929.3_Missense_Mutation_p.L746F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	746							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCAAGACAGAGACCCTTCACA	0.468000													36	83					0	0	0.004289	0	0
WWC3	55841	broad.mit.edu	37	X	10094265	10094265	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:10094265C>T	ENST00000380861.4	+	15	2416	c.2025C>T	c.(2023-2025)ccC>ccT	p.P675P	WWC3_ENST00000454666.1_Silent_p.P675P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	675	C2.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCAGAATCCCCGTGCATTCCA	0.557000													38	13					0	0	0.005524	0	0
MUC16	94025	broad.mit.edu	37	19	9058027	9058027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9058027G>A	ENST00000397910.4	-	3	29622	c.29419C>T	c.(29419-29421)Cat>Tat	p.H9807Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9809	Ser-rich.|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						GAGGAAGGATGAATTTTCTCT	0.448000													15	45					0	0	0.002450	0	0
SLC6A19	340024	broad.mit.edu	37	5	1221377	1221377	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:1221377C>T	ENST00000304460.10	+	11	1706	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	550					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCTTCTTCTTCGTGGTAGAGG	0.582000													13	20					0	0	0.001855	0	0
OR4K13	390433	broad.mit.edu	37	14	20502633	20502633	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20502633C>T	ENST00000315693.2	-	1	286	c.285G>A	c.(283-285)tgG>tgA	p.W95*		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AATAACATCCCCACCATGAGA	0.458000													33	35					0	0	0.002836	0	0
FLG	2312	broad.mit.edu	37	1	152281990	152281990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152281990C>T	ENST00000368799.1	-	3	5407	c.5372G>A	c.(5371-5373)aGa>aAa	p.R1791K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1791	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCGGGATCTTTGTCTTCC	0.602000									Ichthyosis				126	133					0	0	0.003610	0	0
CACNA1A	773	broad.mit.edu	37	19	13323213	13323213	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:13323213G>A	ENST00000360228.5	-	42	6173	c.6174C>T	c.(6172-6174)agC>agT	p.S2058S	CACNA1A_ENST00000573710.2_Silent_p.S2059S	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	2059					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)	AGTTAGGCTGGCTGTTGGGCA	0.647000													8	10					0	0	0.000673	0	0
PDE7B	27115	broad.mit.edu	37	6	136494966	136494966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136494966G>A	ENST00000308191.6	+	9	1046	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	248	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CATCACTGGCGATCTACAATT	0.413000													24	38					0	0	0.002445	0	0
PTPRB	5787	broad.mit.edu	37	12	70988418	70988418	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:70988418G>A	ENST00000334414.6	-	6	1389	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R448*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.R231*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R231*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R449*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R231*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R231*|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	231	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCCGGTATCGTTCCACATTC	0.468000													16	31					0	0	0.004990	0	0
RPL23AP82	284942	broad.mit.edu	37	22	51237319	51237319	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:51237319C>T	ENST00000480246.1	+	0	569					NR_026982.1																						CATCAAGTTTCCGCTGGCCAC	0.537000													19	24					0	0	0.005443	0	0
COL24A1	255631	broad.mit.edu	37	1	86557978	86557978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:86557978G>A	ENST00000370571.2	-	6	1991	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	COL24A1_ENST00000436319.1_Missense_Mutation_p.S542F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	542	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGACCTGGGGAAAATCCTGG	0.303000													38	73					0	0	0.003610	0	0
OR6K6	128371	broad.mit.edu	37	1	158725430	158725430	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158725430C>T	ENST00000368144.2	+	1	921	c.825C>T	c.(823-825)ttC>ttT	p.F275F		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTGCTGTGTTCTTGCTATTTT	0.448000													26	52					0	0	0.003954	0	0
PLCL2	23228	broad.mit.edu	37	3	17053303	17053303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:17053303C>T	ENST00000418129.2	+	2	2552	c.2087C>T	c.(2086-2088)cCt>cTt	p.P696L	PLCL2_ENST00000396755.2_Missense_Mutation_p.P696L|PLCL2_ENST00000432376.1_Missense_Mutation_p.P696L	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	822	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATCAACCTGCCTGAACTGGCC	0.458000													20	26					0	0	0.001216	0	0
LOC101929735	101929735	broad.mit.edu	37	14	22925659	22925659	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22925659C>T	ENST00000514473.2	-	0	225																											CAAGGTTTTTCGTAATGATGC	0.453000													74	91					0	0	0.003610	0	0
PATZ1	23598	broad.mit.edu	37	22	31740815	31740815	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:31740815G>A	ENST00000266269.5	-	1	1403	c.774C>T	c.(772-774)gcC>gcT	p.A258A	PATZ1_ENST00000215919.3_Silent_p.A258A|PATZ1_ENST00000351933.4_Silent_p.A258A|PATZ1_ENST00000405309.3_Silent_p.A258A	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	258					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						TCAGGGGAGGGGCACTGGATG	0.657000													3	9					0	0	0.004672	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833777	61833777	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:61833777G>A	ENST00000370339.3	-	4	1856	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.S455S	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	505	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGGTGTCCCGGGAGTTTGTGA	0.478000													12	48					0	0	0.003163	0	0
EPHB2	2048	broad.mit.edu	37	1	23232533	23232533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:23232533G>A	ENST00000400191.3	+	10	1837	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	EPHB2_ENST00000374627.1_Missense_Mutation_p.E602K|EPHB2_ENST00000374632.3_Missense_Mutation_p.E608K|EPHB2_ENST00000374630.3_Missense_Mutation_p.E607K	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	607					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.E607K(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGACCCCAACGAGGCAGTGCG	0.517000													19	24					0	0	0.006122	0	0
FLT4	2324	broad.mit.edu	37	5	180056296	180056296	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:180056296G>A	ENST00000261937.6	-	7	1026	c.948C>T	c.(946-948)atC>atT	p.I316I	FLT4_ENST00000393347.3_Silent_p.I316I|FLT4_ENST00000502649.1_Silent_p.I316I|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	316	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GAAATCGCTGGATGCCGTTGT	0.617000													14	3					0	0	0.003163	0	0
TMEM37	140738	broad.mit.edu	37	2	120194827	120194827	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:120194827C>T	ENST00000306406.4	+	2	419	c.384C>T	c.(382-384)tcC>tcT	p.S128S	TMEM37_ENST00000409826.1_Silent_p.S140S|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	128						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TCATGGGTTCCATCCTCCTCC	0.577000													56	90					0	0	0.003610	0	0
OR2T12	127064	broad.mit.edu	37	1	248458170	248458170	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248458170G>A	ENST00000317996.1	-	1	710	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AAGAGCAGGTGGCAAAGGCCT	0.527000													35	51					0	0	0.003755	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730113	140730113	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140730113A>T	ENST00000523390.1	+	1	286	c.286A>T	c.(286-288)Aaa>Taa	p.K96*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCGGAAGGAAACTTGAGTG	0.428000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	13					0	0	0.003954	0	0
CEACAM19	56971	broad.mit.edu	37	19	45182158	45182158	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45182158C>T	ENST00000358777.4	+	4	1089	c.609C>T	c.(607-609)tcC>tcT	p.S203S	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Silent_p.S203S	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	203						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				gatctctgtccatcttgtgct	0.478000													192	234					0	0	0.003610	0	0
ZNF638	27332	broad.mit.edu	37	2	71591276	71591276	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71591276C>T	ENST00000409544.1	+	5	2241	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Silent_p.S537S|ZNF638_ENST00000355812.3_Silent_p.S537S|ZNF638_ENST00000264447.4_Silent_p.S537S	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	537	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GATCCAGATCCAGATCCCGTT	0.438000													21	23					0	0	0.001882	0	0
TRIML2	205860	broad.mit.edu	37	4	189020258	189020258	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:189020258G>A	ENST00000512729.1	-	4	776	c.402C>T	c.(400-402)gtC>gtT	p.V134V	TRIML2_ENST00000536972.1_Silent_p.V184V|TRIML2_ENST00000326754.3_Silent_p.V134V	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	134							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGAGGCTGCGGACCTGTTCAG	0.483000													20	51					0	0	0.001523	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767635	143767635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:143767635C>T	ENST00000419275.1	-	1	246	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	72	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TCACCGGTGCCATTAGGGTGT	0.468000													42	156					0	0	0.002522	0	0
MYH7	4625	broad.mit.edu	37	14	23884284	23884284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23884284C>T	ENST00000355349.3	-	37	5641	c.5479G>A	c.(5479-5481)Gag>Aag	p.E1827K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1827					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTCGGCCTCCAGCTCATTC	0.657000													77	11					0	0	0.003610	0	0
IL22	50616	broad.mit.edu	37	12	68647154	68647154	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:68647154G>A	ENST00000538666.1	-	2	145	c.75C>T	c.(73-75)gcC>gcT	p.A25A	IL22_ENST00000328087.4_Silent_p.A25A			Q9GZX6	IL22_HUMAN	interleukin 22	25					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		GTACCAAGAGGGCCAAGAGAA	0.567000													19	23					0	0	0.001216	0	0
NOD2	64127	broad.mit.edu	37	16	50745440	50745440	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:50745440C>A	ENST00000300589.2	+	4	1723	c.1618C>A	c.(1618-1620)Ctt>Att	p.L540I		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	540	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACCCAGTCTTCTTCGGGGCCG	0.617000													17	20					5.3912e-06	1.00578e-05	0.006122	1	0
PAK7	57144	broad.mit.edu	37	20	9546684	9546684	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:9546684C>T	ENST00000378429.3	-	6	1884	c.1338G>A	c.(1336-1338)agG>agA	p.R446R	PAK7_ENST00000353224.5_Silent_p.R446R|PAK7_ENST00000378423.1_Silent_p.R446R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	446	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCAAGTATTCCCTGGGGTCTC	0.587000													24	21					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179605572	179605572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179605572C>T	ENST00000589042.1	-	48	12612	c.12388G>A	c.(12388-12390)Gaa>Aaa	p.E4130K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3767K|TTN_ENST00000591111.1_Missense_Mutation_p.E3813K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3892K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E3959K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3813							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)			CAAAGAAATTCCCTGGTGCTT	0.453000													50	83					0	0	0.003610	0	0
MIR527	574497	broad.mit.edu	37	19	54257349	54257349	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54257349G>A	ENST00000385244.1	+	0	78					NR_030219.1																						GTGAATTACGGTTTGAGAAAA	0.453000													36	48					0	0	0.003271	0	0
OR5H2	79310	broad.mit.edu	37	3	98002107	98002107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:98002107G>A	ENST00000355273.2	+	1	376	c.376G>A	c.(376-378)Gat>Aat	p.D126N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATGGCATATGATCGCTATGT	0.373000													34	44					0	0	0.003271	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704272	56704272	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56704272G>A	ENST00000586855.2	-	2	463	c.150C>T	c.(148-150)ttC>ttT	p.F50F	ZSCAN5B_ENST00000358992.3_Silent_p.F50F			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	50	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGGGCAGCTGAACATCCTGA	0.572000													12	17					0	0	0.002450	0	0
HNF4G	3174	broad.mit.edu	37	8	76471257	76471257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:76471257G>A	ENST00000396423.2	+	8	1202	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	HNF4G_ENST00000354370.1_Missense_Mutation_p.E323K	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	323					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTACTTCAGGAAATGCTATT	0.338000													45	81					0	0	0.002522	0	0
RWDD3	25950	broad.mit.edu	37	1	95712207	95712207	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:95712207A>T	ENST00000370202.4	+	3	759	c.683A>T	c.(682-684)cAc>cTc	p.H228L	RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000263893.6_Intron|RP11-57H12.5_ENST00000444665.1_RNA	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300.2	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	228						cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		CAGACAGAACACAAAAGGTAT	0.318000													28	46					0	0	0.005443	0	0
CACNA1I	8911	broad.mit.edu	37	22	40075813	40075813	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40075813C>T	ENST00000336649.4	+	36	5499	c.5499C>T	c.(5497-5499)tcC>tcT	p.S1833S	CACNA1I_ENST00000402142.3_Silent_p.S1827S|CACNA1I_ENST00000407673.1_Silent_p.S1792S|CACNA1I_ENST00000404898.1_Silent_p.S1792S|CACNA1I_ENST00000401624.1_Silent_p.S1827S|CACNA1I_ENST00000400164.3_Silent_p.S1792S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1827					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGTCGGGCTCCATCTTCCACC	0.612000													9	7					0	0	0.000673	0	0
CASQ1	844	broad.mit.edu	37	1	160163593	160163593	+	Missense_Mutation	SNP	G	G	A	rs138808242		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160163593G>A	ENST00000368079.3	+	3	678	c.403G>A	c.(403-405)Gat>Aat	p.D135N	CASQ1_ENST00000368078.3_Missense_Mutation_p.D141N	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	141						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATTGAGTACGATGGCGAGTT	0.542000													71	33					0	0	0.003610	0	0
TDRD9	122402	broad.mit.edu	37	14	104515982	104515982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:104515982C>T	ENST00000409874.4	+	35	4060	c.4012C>T	c.(4012-4014)Ccc>Tcc	p.P1338S	TDRD9_ENST00000339063.5_Missense_Mutation_p.P1147S	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1338					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GAAGATTGTTCCCAAGTGGCA	0.443000													6	4					0	0	0.003080	0	0
GARS	2617	broad.mit.edu	37	7	30661043	30661043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:30661043C>T	ENST00000389266.3	+	11	1635	c.1394C>T	c.(1393-1395)tCc>tTc	p.S465F		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	465					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GCTGATCGTTCCTGTTATGAC	0.378000													92	142					0	0	0.003610	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103400114	103400114	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:103400114G>A	ENST00000361246.2	-	37	5359	c.5071C>T	c.(5071-5073)Ccc>Tcc	p.P1691S	RP11-365N19.2_ENST00000560931.1_RNA	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1691					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GGGGAGTTGGGGCTCGGTGGG	0.662000													6	2					0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82582174	82582174	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82582174G>A	ENST00000423517.2	-	5	8432	c.8095C>T	c.(8095-8097)Cct>Tct	p.P2699S	PCLO_ENST00000333891.8_Missense_Mutation_p.P2699S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2630					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						GGCTCTGGAGGAATTGTTATG	0.403000													21	46					0	0	0.001216	0	0
AHSG	197	broad.mit.edu	37	3	186336351	186336351	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:186336351G>C	ENST00000411641.2	+	5	819	c.600G>C	c.(598-600)gaG>gaC	p.E200D	AHSG_ENST00000273784.5_Missense_Mutation_p.E201D			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	200	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCTATGTGGAGTTTACAGTGT	0.517000													12	34					0	0	0.001368	0	0
TAS1R3	83756	broad.mit.edu	37	1	1269724	1269724	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:1269724G>A	ENST00000339381.5	+	6	2471	c.2439G>A	c.(2437-2439)agG>agA	p.R813R		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	813					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	ACCTGCCCAGGTGTTACCTGC	0.662000													13	9					0	0	0.002450	0	0
DAB2	1601	broad.mit.edu	37	5	39377003	39377003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:39377003G>A	ENST00000545653.1	-	11	2353	c.1823C>T	c.(1822-1824)cCc>cTc	p.P608L	DAB2_ENST00000339788.6_Missense_Mutation_p.P411L|DAB2_ENST00000509337.1_Missense_Mutation_p.P608L|DAB2_ENST00000320816.6_Missense_Mutation_p.P629L	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	629					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GATGTCCTTGGGAGGGCCAGC	0.527000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	75					0	0	0.003610	0	0
TNS1	7145	broad.mit.edu	37	2	218682809	218682809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:218682809G>A	ENST00000171887.4	-	24	4386	c.3934C>T	c.(3934-3936)Ccc>Tcc	p.P1312S	TNS1_ENST00000430930.1_Missense_Mutation_p.P1291S|TNS1_ENST00000419504.1_Missense_Mutation_p.P1299S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1312						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P1312S(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGCTGCCGGGAACCACAGAT	0.632000													8	13					0	0	0.004482	0	0
PLOD2	5352	broad.mit.edu	37	3	145790401	145790401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:145790401C>T	ENST00000282903.5	-	17	1972	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.E544K|PLOD2_ENST00000461497.1_Missense_Mutation_p.E259K|PLOD2_ENST00000360060.3_Missense_Mutation_p.E578K	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	578					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCTACCAATTCATCACAGGCT	0.363000													12	30					0	0	0.001368	0	0
CRIM1	51232	broad.mit.edu	37	2	36691732	36691732	+	Missense_Mutation	SNP	C	C	T	rs142032514		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:36691732C>T	ENST00000280527.2	+	5	1292	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	309					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGGATCCACTCCCCGCATAGT	0.483000													55	54					0	0	0.003610	0	0
ZNF79	7633	broad.mit.edu	37	9	130198199	130198199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:130198199C>T	ENST00000342483.5	+	4	651	c.245C>T	c.(244-246)tCc>tTc	p.S82F	ZNF79_ENST00000543471.1_Missense_Mutation_p.S58F	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	82	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTTCCAGTTTCCCAGCCTGGC	0.507000													87	20					0	0	0.003610	0	0
WDR90	197335	broad.mit.edu	37	16	711461	711461	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:711461C>T	ENST00000549091.1	+	30	3725	c.3633C>T	c.(3631-3633)gcC>gcT	p.A1211A	WDR90_ENST00000293879.4_Silent_p.A1211A	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1211										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGTGCTGGCCCTGGCCTTCT	0.647000													18	31					0	0	0.001882	0	0
LRRK2	120892	broad.mit.edu	37	12	40714883	40714883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:40714883C>T	ENST00000298910.7	+	35	5121	c.5063C>T	c.(5062-5064)tCt>tTt	p.S1688F		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1688					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTGAGAACTCTGAAATTATC	0.393000													44	61					0	0	0.003610	0	0
COL17A1	1308	broad.mit.edu	37	10	105800840	105800840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:105800840G>A	ENST00000353479.5	-	39	2974	c.2684C>T	c.(2683-2685)tCg>tTg	p.S895L	COL17A1_ENST00000369733.3_Missense_Mutation_p.S895L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	895	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGACAGGAACGATCCTGGTGG	0.587000													26	46					0	0	0.001512	0	0
C10orf120	399814	broad.mit.edu	37	10	124457734	124457734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124457734G>A	ENST00000329446.4	-	3	554	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	175										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CCCAGAGCCCGAGCAAGCCTC	0.498000													44	68					0	0	0.003610	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21428330	21428330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21428330C>T	ENST00000307378.6	-	14	2359	c.1639G>A	c.(1639-1641)Ggt>Agt	p.G547S	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G545S|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G415S|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G547S|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G415S	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	547					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AATCCCACACCAAGGGACTTC	0.264000													4	15					0	0	0.001168	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392811	89392811	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:89392811C>T	ENST00000532352.1	+	0	634							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTGGAATCTTCCTGGAGGTGG	0.517000													18	48					0	0	0.001216	0	0
ALS2CL	259173	broad.mit.edu	37	3	46716097	46716097	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46716097G>A	ENST00000318962.4	-	21	2471	c.2388C>T	c.(2386-2388)ctC>ctT	p.L796L	ALS2CL_ENST00000415953.1_Silent_p.L796L|ALS2CL_ENST00000383742.3_Silent_p.L143L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	796	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TATCAGGAAAGAGGCTCAAGT	0.552000													38	73					0	0	0.001287	0	0
TPO	7173	broad.mit.edu	37	2	1488383	1488383	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1488383G>A	ENST00000345913.4	+	9	1445	c.1354G>A	c.(1354-1356)Gat>Aat	p.D452N	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.D452N|TPO_ENST00000349624.3_Missense_Mutation_p.D279N|TPO_ENST00000337415.3_Missense_Mutation_p.D452N|TPO_ENST00000382201.3_Missense_Mutation_p.D452N|TPO_ENST00000329066.4_Missense_Mutation_p.D452N|TPO_ENST00000382198.1_Missense_Mutation_p.D279N	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	452					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACCCTGAGGGATTACATCCC	0.577000													8	7					0	0	0.004482	0	0
MAP3K14	9020	broad.mit.edu	37	17	43350993	43350993	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:43350993G>A	ENST00000344686.2	-	0	1658							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCGCCCCGGGGAGGAAGAGGA	0.622000													12	1					0	0	0.000978	0	0
GGT6	124975	broad.mit.edu	37	17	4461464	4461464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:4461464G>A	ENST00000301395.3	-	3	1291	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L	GGT6_ENST00000381550.3_Missense_Mutation_p.P449L|GGT6_ENST00000574154.1_Missense_Mutation_p.P443L|GGT6_ENST00000573591.1_Missense_Mutation_p.P295L	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	443					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GGCCTGGGTAGGGGGCCTTGC	0.622000													25	9					0	0	0.001512	0	0
OR56A3	390083	broad.mit.edu	37	11	5968624	5968624	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5968624C>T	ENST00000329564.6	+	1	55	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	16					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)		CTTCAGACTTCCTCTTGAATT	0.483000													12	25					0	0	0.001368	0	0
LEP	3952	broad.mit.edu	37	7	127894657	127894657	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:127894657G>A	ENST00000308868.4	+	3	396	c.345G>A	c.(343-345)aaG>aaA	p.K115K		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	115					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						CCTTCTCTAAGAGCTGCCACT	0.577000													73	9					0	0	0.003610	0	0
SLAMF9	89886	broad.mit.edu	37	1	159921493	159921493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159921493C>T	ENST00000368093.3	-	4	944	c.828G>A	c.(826-828)atG>atA	p.M276I	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Missense_Mutation_p.M185I	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	276						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTCAATTTCATTCTGTTTC	0.507000													29	66					0	0	0.002096	0	0
RIMS2	9699	broad.mit.edu	37	8	104922629	104922629	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:104922629G>A	ENST00000262231.10	+	3	1377	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	600					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGACAAAAGGAAATGATGTA	0.443000										HNSCC(12;0.0054)			92	64					0	0	0.003610	0	0
MED16	10025	broad.mit.edu	37	19	873482	873482	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:873482G>A	ENST00000312090.6	-	11	2022	c.1872C>T	c.(1870-1872)ttC>ttT	p.F624F	MED16_ENST00000589119.1_Silent_p.F624F|MED16_ENST00000395808.3_Silent_p.F624F|MED16_ENST00000325464.1_Silent_p.F624F|MED16_ENST00000269814.4_Silent_p.F624F			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	624					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		GGTACAGCACGAAGTCGCCCA	0.612000													17	28					0	0	0.001523	0	0
OSBPL8	114882	broad.mit.edu	37	12	76791507	76791507	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:76791507G>A	ENST00000261183.3	-	8	1118	c.639C>T	c.(637-639)ttC>ttT	p.F213F	OSBPL8_ENST00000393249.2_Silent_p.F171F|OSBPL8_ENST00000393250.4_Silent_p.F171F	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	213	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CCAAAGGATGGAAAAGTTTGA	0.378000													12	21					0	0	0.001368	0	0
PDE6B	5158	broad.mit.edu	37	4	628613	628613	+	Missense_Mutation	SNP	G	G	A	rs140444984		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:628613G>A	ENST00000255622.6	+	2	659	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	PDE6B_ENST00000496514.1_Missense_Mutation_p.E206K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	206	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CAGCGAAGACGAAGATGTGAG	0.602000													18	24					0	0	0.001882	0	0
NXPE1	120400	broad.mit.edu	37	11	114401507	114401507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:114401507C>T	ENST00000536312.1	-	6	1115	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	NXPE1_ENST00000424269.1_Missense_Mutation_p.E75K|NXPE1_ENST00000251921.2_5'UTR					neurexophilin and PC-esterase domain family, member 1																		TCTATGATTTCCTTTATTCTG	0.463000													33	58					0	0	0.004289	0	0
EIF4A2	1974	broad.mit.edu	37	3	186505599	186505599	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:186505599G>A	ENST00000323963.5	+	10	1071	c.1007G>A	c.(1006-1008)gGg>gAg	p.G336E	EIF4A2_ENST00000356531.5_Missense_Mutation_p.G241E|EIF4A2_ENST00000440191.2_Missense_Mutation_p.G337E			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	336	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CAGGCTCGCGGGATTGATGTG	0.383000			T	BCL6	NHL								27	42					0	0	0.005443	0	0
CAMTA2	23125	broad.mit.edu	37	17	4875709	4875709	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:4875709T>C	ENST00000361571.5	-	15	3034	c.2623A>G	c.(2623-2625)Atg>Gtg	p.M875V	CAMTA2_ENST00000414043.3_Missense_Mutation_p.M899V|CAMTA2_ENST00000358183.4_Missense_Mutation_p.M876V|CAMTA2_ENST00000381311.5_Missense_Mutation_p.M878V|CAMTA2_ENST00000348066.3_Missense_Mutation_p.M876V|CAMTA2_ENST00000572543.1_Missense_Mutation_p.M881V	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	876					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATGTCCTCCATAGTCATCTCA	0.612000													24	5					0	0	0.003954	0	0
RYR1	6261	broad.mit.edu	37	19	39016076	39016076	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39016076C>T	ENST00000355481.4	+	70	10676	c.10545C>T	c.(10543-10545)atC>atT	p.I3515I	RYR1_ENST00000359596.3_Silent_p.I3520I|RYR1_ENST00000360985.3_Silent_p.I3520I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3520					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCTGCCCATCGGCCTGAATA	0.632000													17	29					0	0	0.001216	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058733	79058733	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:79058733G>A	ENST00000388820.4	-	19	3730	c.3520C>T	c.(3520-3522)Ctg>Ttg	p.L1174L		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1174					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCCAGGACAGGCTGGGGAGC	0.617000													9	6					0	0	0.000673	0	0
KIAA0020	9933	broad.mit.edu	37	9	2831320	2831320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:2831320G>A	ENST00000397885.2	-	6	747	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	181	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGGATCACACGAGTTGAATCG	0.338000													49	17					0	0	0.003610	0	0
WDR59	79726	broad.mit.edu	37	16	74908169	74908169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:74908169G>A	ENST00000262144.6	-	26	2993	c.2863C>T	c.(2863-2865)Cgg>Tgg	p.R955W		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	955										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TCCTGGGTCCGAAACCACTCC	0.572000													6	9					0	0	0.001168	0	0
FAM83C	128876	broad.mit.edu	37	20	33879710	33879710	+	Missense_Mutation	SNP	G	G	A	rs150022416		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33879710G>A	ENST00000374408.3	-	1	494	c.398C>T	c.(397-399)cCc>cTc	p.P133L		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	133										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TGGCACCTCGGGCCAGCCCAG	0.627000													44	134					0	0	0.003610	0	0
AGBL2	79841	broad.mit.edu	37	11	47690428	47690428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:47690428C>T	ENST00000525123.1	-	15	2464	c.2179G>A	c.(2179-2181)Ggt>Agt	p.G727S	AGBL2_ENST00000357610.3_Missense_Mutation_p.G729S|AGBL2_ENST00000528244.1_Missense_Mutation_p.G689S|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.G727S	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	727					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACAGGAAGACCATCTGAGAGA	0.398000													42	85					0	0	0.003610	0	0
NLRP11	204801	broad.mit.edu	37	19	56312989	56312989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56312989G>A	ENST00000443188.1	-	7	2830	c.2120C>T	c.(2119-2121)tCa>tTa	p.S707L	NLRP11_ENST00000360133.3_Missense_Mutation_p.S653L|NLRP11_ENST00000589093.1_Missense_Mutation_p.S707L|NLRP11_ENST00000589824.2_Missense_Mutation_p.S653L|NLRP11_ENST00000592953.1_Missense_Mutation_p.S608L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	707							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATGCAGAAGTGAAAACATATT	0.473000													46	44					0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	90087065	90087065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:90087065C>T	ENST00000405460.2	+	70	14515	c.14419C>T	c.(14419-14421)Cat>Tat	p.H4807Y	GPR98_ENST00000425867.2_Missense_Mutation_p.H468Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4807					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)		ATCATCGGATCATAAAGAACA	0.443000													8	6					0	0	0.000443	0	0
PLD5	200150	broad.mit.edu	37	1	242428750	242428750	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:242428750C>T	ENST00000442594.2	-	5	729	c.219_splice	c.e5-1	p.G74_splice	PLD5_ENST00000427495.1_Splice_Site_p.G104_splice|PLD5_ENST00000536534.1_Splice_Site_p.G166_splice	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	166						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AGACGTTGACCCTGGAAAAAA	0.323000													13	43					0	0	0.001368	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545533	234545533	+	Missense_Mutation	SNP	C	C	T	rs145610800		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:234545533C>T	ENST00000344644.5	+	1	434	c.365C>T	c.(364-366)tCg>tTg	p.S122L	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.S122L	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTATTTTTTTCGCATTGCAGG	0.363000													43	80					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20944715	20944715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:20944715G>A	ENST00000261383.3	-	62	12111	c.12112C>T	c.(12112-12114)Ctc>Ttc	p.L4038F	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	4038					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L4038V(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTTTGGGGAGAGATTCCCCA	0.498000													40	53					0	0	0.001485	0	0
OR2F2	135948	broad.mit.edu	37	7	143632523	143632523	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143632523C>T	ENST00000408955.2	+	1	265	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	66					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)					TCACCAACCTCTCCCTTGTCG	0.517000													114	105					0	0	0.003610	0	0
CMYA5	202333	broad.mit.edu	37	5	79034797	79034797	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:79034797C>T	ENST00000446378.2	+	2	10240	c.10209C>T	c.(10207-10209)gtC>gtT	p.V3403V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3403						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAATCCTGGTCCCACCTGAGC	0.443000													37	8					0	0	0.001706	0	0
EDNRA	1909	broad.mit.edu	37	4	148406860	148406860	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:148406860C>T	ENST00000324300.5	+	2	542	c.27C>T	c.(25-27)tcC>tcT	p.S9S	EDNRA_ENST00000339690.5_Silent_p.S9S|EDNRA_ENST00000506066.1_Silent_p.S9S|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000358556.4_Silent_p.S9S	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	9					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	TCAGGGCATCCTTTTGGCTGG	0.418000													36	27					0	0	0.002852	0	0
OR4A16	81327	broad.mit.edu	37	11	55111121	55111121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55111121G>A	ENST00000314721.2	+	1	495	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGCCATGATTGGAGGTTTTGT	0.458000													39	59					0	0	0.001287	0	0
SORL1	6653	broad.mit.edu	37	11	121340715	121340715	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121340715G>A	ENST00000260197.7	+	2	414		c.e2-1		SORL1_ENST00000532451.1_Splice_Site	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATCTCTTTCAGGTTAGTCTGA	0.473000													30	41					0	0	0.001786	0	0
PSG2	5670	broad.mit.edu	37	19	43576076	43576076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43576076G>A	ENST00000406487.1	-	4	838	c.740C>T	c.(739-741)tCa>tTa	p.S247L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	247	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ATTGGTGTATGAAGGGTGAAT	0.483000													51	89					0	0	0.003610	0	0
SCN5A	6331	broad.mit.edu	37	3	38616821	38616821	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38616821G>A	ENST00000413689.1	-	20	3826	c.3633C>T	c.(3631-3633)atC>atT	p.I1211I	SCN5A_ENST00000423572.2_Silent_p.I1210I|SCN5A_ENST00000414099.2_Silent_p.I1211I|SCN5A_ENST00000333535.4_Silent_p.I1211I|SCN5A_ENST00000455624.2_Silent_p.I1210I|SCN5A_ENST00000450102.2_Silent_p.I1157I|SCN5A_ENST00000451551.2_Silent_p.I1157I|SCN5A_ENST00000449557.2_Silent_p.I1157I|SCN5A_ENST00000443581.1_Silent_p.I1210I|SCN5A_ENST00000425664.1_Silent_p.I1211I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1211					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCATGAAGATGATGAATGTCT	0.617000													8	5					0	0	0.000978	0	0
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248004713C>T	ENST00000355784.2	-	1	541	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M162I(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCTGGAAATCATCAGGGAAG	0.557000													29	66					0	0	0.001271	0	0
TMEM189	387521	broad.mit.edu	37	20	48746165	48746165	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:48746165G>A	ENST00000557021.1	-	4	556	c.396C>T	c.(394-396)ttC>ttT	p.F132F	TMEM189_ENST00000371650.5_Silent_p.F129F|TMEM189_ENST00000371652.4_Silent_p.F132F|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.F132F|TMEM189_ENST00000371656.2_Silent_p.F57F	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TGGTCTCGATGAAGTCGTGCC	0.597000													17	48					0	0	0.001216	0	0
DPYS	1807	broad.mit.edu	37	8	105459626	105459626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105459626C>T	ENST00000351513.2	-	3	661	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	177					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGAAGGCTTCGTACAGCTCC	0.428000													49	36					0	0	0.003610	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395108	3395108	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:3395108C>T	ENST00000378378.4	+	12	2151	c.1746C>T	c.(1744-1746)ccC>ccT	p.P582P	ARHGEF16_ENST00000378371.2_Silent_p.P294P|ARHGEF16_ENST00000378373.1_Silent_p.P294P|ARHGEF16_ENST00000413250.2_Silent_p.P286P	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	582	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TGCCCCACCCCTTCCAGGTGA	0.667000													16	25					0	0	0.006122	0	0
DFNB31	25861	broad.mit.edu	37	9	117169089	117169089	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:117169089G>A	ENST00000362057.3	-	9	1950	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	DFNB31_ENST00000265134.6_Silent_p.L211L|DFNB31_ENST00000374059.3_Silent_p.L243L	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	594	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCCTAGTGGGAGGTCGTTGC	0.617000													13	0					0	0	0.001368	0	0
SPOCK3	50859	broad.mit.edu	37	4	167810341	167810341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:167810341C>T	ENST00000357154.3	-	7	675	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	SPOCK3_ENST00000535728.1_Missense_Mutation_p.E88K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E180K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E84K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E177K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E177K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E177K|SPOCK3_ENST00000512648.1_Missense_Mutation_p.E177K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E129K|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E82K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E180K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E180K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E82K|SPOCK3_ENST00000504953.1_Missense_Mutation_p.E177K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E60K	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	180	Kazal-like.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAATGTCCTTCACATTTGACT	0.323000													48	58					0	0	0.003610	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152064	11152064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:11152064G>A	ENST00000358026.2	+	31	4632	c.4348G>A	c.(4348-4350)Gac>Aac	p.D1450N	SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1388N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1388N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1388N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1418N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1385N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1418N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1388N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1385N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1418					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)				GCGAGACAGCGACGCCGGCTC	0.632000			"""F, N, Mis"""		NSCLC								22	20					0	0	0.001523	0	0
ARPP21	10777	broad.mit.edu	37	3	35732430	35732430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:35732430G>A	ENST00000187397.4	+	9	1075	c.619G>A	c.(619-621)Gga>Aga	p.G207R	ARPP21_ENST00000444190.1_Missense_Mutation_p.G207R|ARPP21_ENST00000458225.1_Missense_Mutation_p.G207R|ARPP21_ENST00000417925.1_Missense_Mutation_p.G207R|ARPP21_ENST00000337271.5_Missense_Mutation_p.G207R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	207	R3H.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGCTTATTTTGGATTGGATCA	0.378000													27	39					0	0	0.001061	0	0
RGS7	6000	broad.mit.edu	37	1	241261968	241261968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:241261968G>A	ENST00000366565.1	-	3	554	c.173C>T	c.(172-174)tCt>tTt	p.S58F	RGS7_ENST00000366562.4_Missense_Mutation_p.S58F|RGS7_ENST00000331110.7_Missense_Mutation_p.S32F|RGS7_ENST00000366563.1_Missense_Mutation_p.S58F|RGS7_ENST00000366564.1_Missense_Mutation_p.S58F|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Missense_Mutation_p.S58F|RGS7_ENST00000407727.1_Missense_Mutation_p.S58F|RGS7_ENST00000401882.1_Missense_Mutation_p.S58F	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	58	DEP.				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)			AGACTTACCAGAGAAGACGCT	0.398000													14	34					0	0	0.003163	0	0
RDH13	112724	broad.mit.edu	37	19	55568048	55568048	+	Nonsense_Mutation	SNP	G	G	A	rs147006931	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55568048G>A	ENST00000396247.3	-	4	572	c.100C>T	c.(100-102)Cga>Tga	p.R34*	RDH13_ENST00000415061.3_Nonsense_Mutation_p.R105*	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	105							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GCAAACTCTCGGATAGACTTG	0.572000													14	31					0	0	0.002450	0	0
ATP13A3	79572	broad.mit.edu	37	3	194174455	194174455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:194174455G>A	ENST00000439040.1	-	10	1609	c.818C>T	c.(817-819)tCa>tTa	p.S273L	ATP13A3_ENST00000256031.4_Missense_Mutation_p.S273L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	273					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TCTACAAACTGAAACTCTTAC	0.348000													23	27					0	0	0.003330	0	0
BBS9	27241	broad.mit.edu	37	7	33296886	33296886	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:33296886C>T	ENST00000242067.6	+	6	1002	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	BBS9_ENST00000354265.4_Silent_p.L161L|BBS9_ENST00000350941.3_Silent_p.L161L|BBS9_ENST00000425508.2_Silent_p.L116L|BBS9_ENST00000396127.2_Silent_p.L161L|BBS9_ENST00000355070.2_Silent_p.L161L	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	161					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GGATGGGATGCTGATGGTATT	0.363000									Bardet-Biedl syndrome				21	26					0	0	0.005443	0	0
CDH10	1008	broad.mit.edu	37	5	24491695	24491695	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:24491695G>A	ENST00000264463.4	-	11	2373	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	622					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)		CCAGTAGAATGATGATGCAGA	0.488000										HNSCC(23;0.051)			35	43					0	0	0.004878	0	0
HFE2	148738	broad.mit.edu	37	1	145416931	145416931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:145416931C>T	ENST00000336751.5	+	4	1514	c.1276C>T	c.(1276-1278)Cag>Tag	p.Q426*	HFE2_ENST00000497365.1_Nonsense_Mutation_p.Q200*|HFE2_ENST00000475797.1_Nonsense_Mutation_p.Q200*|HFE2_ENST00000357836.5_Nonsense_Mutation_p.Q313*	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	426					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTTTGCATTCAGTAAGGGGA	0.463000													44	67					0	0	0.003610	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709480	128709480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128709480C>T	ENST00000392665.2	-	2	803	c.659G>A	c.(658-660)gGa>gAa	p.G220E	KCNJ1_ENST00000392664.2_Missense_Mutation_p.G239E|KCNJ1_ENST00000392666.1_Missense_Mutation_p.G220E|KCNJ1_ENST00000324036.3_Missense_Mutation_p.G220E|KCNJ1_ENST00000440599.2_Missense_Mutation_p.G220E	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	239					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AATGGTCTCTCCTTCAGGAGT	0.408000													70	81					0	0	0.003610	0	0
NBPF9	400818	broad.mit.edu	37	1	144825421	144825421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:144825421C>T	ENST00000440491.2	+	11	1373	c.1373C>T	c.(1372-1374)tCg>tTg	p.S458L	NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						AGATGGTATTCGACTCCTTCA	0.488000													68	59					0	0	0.003610	0	0
HCN1	348980	broad.mit.edu	37	5	45303941	45303941	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:45303941C>T	ENST00000303230.4	-	6	1435	c.1377_splice	c.e6-1	p.E460_splice		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	460						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			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						TTGACTATCTCCTAAAGATGT	0.333000													45	75					0	0	0.003610	0	0
PSG8	440533	broad.mit.edu	37	19	43269714	43269714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43269714G>A	ENST00000404209.4	-	1	116	c.20C>T	c.(19-21)cCt>cTt	p.P7L	PSG8_ENST00000406636.3_Missense_Mutation_p.P7L|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.P7L	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	7						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGTGCAGGGAGGGGCTGAGAG	0.597000													41	53					0	0	0.003610	0	0
FOLH1B	219595	broad.mit.edu	37	11	89403637	89403637	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:89403637G>A	ENST00000532352.1	+	0	988							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGGAGCAGTGGAACCAGGTAA	0.383000													31	52					0	0	0.001786	0	0
RASSF7	8045	broad.mit.edu	37	11	563473	563473	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:563473C>T	ENST00000397583.3	+	5	1462	c.1029C>T	c.(1027-1029)ccC>ccT	p.P343P	RASSF7_ENST00000397582.3_3'UTR|RASSF7_ENST00000431809.1_3'UTR|RASSF7_ENST00000344375.4_Silent_p.P343P|RASSF7_ENST00000454668.2_Intron	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	343					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCTAGGCCCCGAGGGTATG	0.692000													4	8					0	0	0.000248	0	0
TSPAN16	26526	broad.mit.edu	37	19	11422832	11422832	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:11422832C>T	ENST00000316737.1	+	6	771	c.621C>T	c.(619-621)ctC>ctT	p.L207L	TSPAN16_ENST00000590327.1_Silent_p.L207L|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Silent_p.L182L	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	207						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TCCATAAACTCCTAAAAATCA	0.502000													13	26					0	0	0.004990	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100231398	100231398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:100231398C>T	ENST00000231461.5	-	2	515	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.E69K	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	69					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTCCAACCTTCTACATTGTGC	0.378000													28	15					0	0	0.002445	0	0
OR56A3	390083	broad.mit.edu	37	11	5968696	5968696	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5968696C>T	ENST00000329564.6	+	1	127	c.120C>T	c.(118-120)ctC>ctT	p.L40L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L40L(1)		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)		TCCTTTTCCTCTTGGCCGTAG	0.597000													25	34					0	0	0.003954	0	0
NRXN1	9378	broad.mit.edu	37	2	50724718	50724718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:50724718C>T	ENST00000404971.1	-	15	4091	c.2752G>A	c.(2752-2754)Gca>Aca	p.A918T	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.A878T|NRXN1_ENST00000406316.2_Missense_Mutation_p.A878T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A878T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A870T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A870T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	878	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCAATGTATGCCATTCCATTA	0.438000													14	36					0	0	0.002450	0	0
IP6K1	9807	broad.mit.edu	37	3	49785288	49785288	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49785288G>A	ENST00000321599.4	-	2	487	c.186C>T	c.(184-186)ctC>ctT	p.L62L	IP6K1_ENST00000468463.1_Silent_p.L62L|IP6K1_ENST00000395238.1_Intron|IP6K1_ENST00000460540.1_Intron	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	62					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						TTTCGGGAGGGAGGGACTCGT	0.532000													8	17					0	0	0.000443	0	0
IL17RC	84818	broad.mit.edu	37	3	9972588	9972588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9972588G>A	ENST00000295981.3	+	16	1779	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.D450N|IL17RC_ENST00000416074.2_Missense_Mutation_p.D289N|IL17RC_ENST00000403601.3_Missense_Mutation_p.D450N|IL17RC_ENST00000383812.4_Missense_Mutation_p.D435N|IL17RC_ENST00000455057.1_Missense_Mutation_p.D418N	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	521						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTATGGGACGATGACTTGGG	0.512000													39	81					0	0	0.003610	0	0
KLF17	128209	broad.mit.edu	37	1	44595031	44595031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:44595031G>A	ENST00000372299.3	+	2	146	c.88G>A	c.(88-90)Gag>Aag	p.E30K	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	30					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAAGGATAACGAGAACTCAGC	0.488000													60	86					0	0	0.003610	0	0
KCNG2	26251	broad.mit.edu	37	18	77659451	77659451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:77659451G>A	ENST00000316249.3	+	2	1036	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	346					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GGCCGAGCGCGAGCTGGGCGC	0.711000													4	8					0	0	0.000248	0	0
PCDH18	54510	broad.mit.edu	37	4	138452418	138452418	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:138452418C>T	ENST00000344876.4	-	1	1211	c.825G>A	c.(823-825)gaG>gaA	p.E275E	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.E55E|PCDH18_ENST00000412923.2_Silent_p.E275E	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	275	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATTAGCGCCCTCATCTGGAT	0.403000													36	28					0	0	0.003755	0	0
SAMD9	54809	broad.mit.edu	37	7	92734772	92734772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92734772C>T	ENST00000379958.2	-	3	908	c.639G>A	c.(637-639)atG>atA	p.M213I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	213						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTAAATTTCATCTTGACAT	0.413000													49	118					0	0	0.003610	0	0
LAMC1	3915	broad.mit.edu	37	1	183072564	183072564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:183072564C>T	ENST00000258341.4	+	2	777	c.520C>T	c.(520-522)Cct>Tct	p.P174S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	174	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCTGGATTCCTTACCAGTA	0.547000													36	35					0	0	0.004289	0	0
PLCH2	9651	broad.mit.edu	37	1	2428416	2428416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:2428416C>T	ENST00000449969.1	+	15	2163	c.2002C>T	c.(2002-2004)Ccg>Tcg	p.P668S	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.P695S|PLCH2_ENST00000378486.3_Missense_Mutation_p.P695S|PLCH2_ENST00000378488.3_Missense_Mutation_p.P695S|PLCH2_ENST00000378483.2_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	695	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CAACTACAACCCGCAGCCCTT	0.642000													7	10					0	0	0.004482	0	0
PCDH15	65217	broad.mit.edu	37	10	55721652	55721652	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55721652C>T	ENST00000373965.2	-	23	3284	c.2889_splice	c.e23-1	p.G964_splice	PCDH15_ENST00000395430.1_Splice_Site_p.G957_splice|PCDH15_ENST00000395445.1_Splice_Site_p.G964_splice|PCDH15_ENST00000395432.2_Splice_Site_p.G920_splice|PCDH15_ENST00000395433.1_Splice_Site_p.G935_splice|PCDH15_ENST00000361849.3_Splice_Site_p.G957_splice|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Splice_Site_p.G962_splice|PCDH15_ENST00000409834.1_Splice_Site_p.G568_splice|PCDH15_ENST00000437009.1_Splice_Site_p.G886_splice|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Splice_Site_p.G957_splice|PCDH15_ENST00000395438.1_Splice_Site_p.G957_splice|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	957	Cadherin 9.				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	p.G957*(4)|p.G962*(4)		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)				GCAGGTAATCCCtaaaataaa	0.313000										HNSCC(58;0.16)			19	34					0	0	0.001216	0	0
MYOF	26509	broad.mit.edu	37	10	95169408	95169408	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95169408C>T	ENST00000371501.4	-	6	644	c.522G>A	c.(520-522)tcG>tcA	p.S174S	MYOF_ENST00000371489.1_Silent_p.S174S|MYOF_ENST00000359263.4_Silent_p.S174S|MYOF_ENST00000358334.5_Silent_p.S174S|MYOF_ENST00000371502.4_Silent_p.S174S			Q9NZM1	MYOF_HUMAN	myoferlin	174					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCTGAGCTTCCGACACCGTCC	0.557000													87	125					0	0	0.003610	0	0
SEL1L3	23231	broad.mit.edu	37	4	25821492	25821492	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:25821492A>G	ENST00000399878.3	-	8	1483	c.1361T>C	c.(1360-1362)gTt>gCt	p.V454A	SEL1L3_ENST00000264868.5_Missense_Mutation_p.V419A|SEL1L3_ENST00000502949.1_Missense_Mutation_p.V301A	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	454						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TATTTCTTGAACCTCAGCACA	0.418000													6	18					0	0	0.001168	0	0
PHKA2	5256	broad.mit.edu	37	X	18972393	18972393	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:18972393G>A	ENST00000379942.4	-	2	881	c.216C>T	c.(214-216)gcC>gcT	p.A72A		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	72					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CGTAGGCCTTGGCCTTGTCCT	0.552000													30	10					0	0	0.004289	0	0
PTPRH	5794	broad.mit.edu	37	19	55718304	55718304	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55718304G>A	ENST00000376350.3	-	3	127	c.105C>T	c.(103-105)aaC>aaT	p.N35N	PTPRH_ENST00000263434.5_Silent_p.N35N|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	35	Fibronectin type-III 1.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCACTGTCAGGTTCCTCCCTG	0.572000													20	28					0	0	0.002780	0	0
CUX2	23316	broad.mit.edu	37	12	111744859	111744859	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:111744859C>A	ENST00000261726.6	+	11	1147	c.993C>A	c.(991-993)tcC>tcA	p.S331S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	331						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGAGGCATCCGCCAACCAGA	0.687000													6	10					5.9392e-07	1.10888e-06	0.001168	1	0
VWA8	23078	broad.mit.edu	37	13	42460146	42460146	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:42460146G>A	ENST00000379310.3	-	8	953	c.885C>T	c.(883-885)tcC>tcT	p.S295S	VWA8_ENST00000281496.6_Silent_p.S295S	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TTGTGGCAAAGGACAAGAGCT	0.328000													22	12					0	0	0.003330	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546326	112546326	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:112546326C>T	ENST00000488794.1	-	5	844	c.255G>A	c.(253-255)caG>caA	p.Q85Q	CD200R1L_ENST00000398214.1_Silent_p.Q106Q|CD200R1L_ENST00000448932.1_Silent_p.Q85Q			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	106	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GGTCCGAATTCTGATCAGGTC	0.473000													30	36					0	0	0.001271	0	0
ELF2	1998	broad.mit.edu	37	4	139983201	139983201	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:139983201G>A	ENST00000394235.2	-	8	1090	c.588C>T	c.(586-588)acC>acT	p.T196T	ELF2_ENST00000358635.3_Silent_p.T148T|ELF2_ENST00000510408.1_Silent_p.T136T|ELF2_ENST00000379549.2_Silent_p.T119T|ELF2_ENST00000379550.1_Silent_p.T208T|ELF2_ENST00000265495.4_Silent_p.T196T	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	208					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CCCACAAATAGGTTGTGTTTC	0.294000													16	33					0	0	0.004007	0	0
NLRP4	147945	broad.mit.edu	37	19	56382295	56382295	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56382295G>A	ENST00000301295.6	+	7	2879	c.2457G>A	c.(2455-2457)ctG>ctA	p.L819L	NLRP4_ENST00000587891.1_Silent_p.L744L|NLRP4_ENST00000346986.5_Silent_p.L763L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	819							ATP binding	p.L819L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCAATGTCCTGAAGGACGAAG	0.507000													39	42					0	0	0.003214	0	0
RBBP8	5932	broad.mit.edu	37	18	20570913	20570913	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:20570913C>T	ENST00000399722.2	+	10	1172	c.821C>T	c.(820-822)cCc>cTc	p.P274L	RBBP8_ENST00000360790.5_Missense_Mutation_p.P274L|RBBP8_ENST00000399725.2_Missense_Mutation_p.P274L|RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000327155.5_Missense_Mutation_p.P274L	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	274					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			ACTCAAGGTCCCATGAGCCCC	0.383000								Homologous recombination					6	9					0	0	0.001168	0	0
KCNC4	3749	broad.mit.edu	37	1	110775514	110775514	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:110775514C>T	ENST00000413138.3	+	4	1871	c.1863C>T	c.(1861-1863)acC>acT	p.T621T	KCNC4_ENST00000369787.3_3'UTR|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Intron			Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	0					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGTCTCACACCTGTGCTCTTT	0.537000													7	8					0	0	0.001984	0	0
DGKB	1607	broad.mit.edu	37	7	14647068	14647068	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:14647068G>A	ENST00000403951.2	-	17	1846	c.1427C>T	c.(1426-1428)cCa>cTa	p.P476L	DGKB_ENST00000406247.3_Missense_Mutation_p.P476L|DGKB_ENST00000402815.1_Missense_Mutation_p.P475L|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.P476L|DGKB_ENST00000444700.2_Missense_Mutation_p.P457L|DGKB_ENST00000258767.5_Missense_Mutation_p.P476L|DGKB_ENST00000407950.1_Missense_Mutation_p.P468L			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	476	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CCCTGGCATTGGTCCATTTCC	0.299000													21	41					0	0	0.003330	0	0
SPEF2	79925	broad.mit.edu	37	5	35659301	35659301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35659301C>T	ENST00000440995.2	+	8	1159	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	SPEF2_ENST00000509059.1_Nonsense_Mutation_p.R387*|SPEF2_ENST00000282469.6_Nonsense_Mutation_p.R387*|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.R387*			Q9C093	SPEF2_HUMAN	sperm flagellar 2	387					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCTCTTGATCGAGAAGCGGT	0.363000													18	35					0	0	0.001882	0	0
LRP1B	53353	broad.mit.edu	37	2	141457988	141457988	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141457988G>A	ENST00000389484.3	-	41	7601	c.6630C>T	c.(6628-6630)tcC>tcT	p.S2210S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2210					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCTTATTGGGGAATTTAAAT	0.343000										TSP Lung(27;0.18)			41	72					0	0	0.001706	0	0
GPR110	266977	broad.mit.edu	37	6	46977795	46977795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46977795G>A	ENST00000371253.2	-	11	1591	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	GPR110_ENST00000283297.5_Missense_Mutation_p.P262L|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	459					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCCTCTGATGGGAATAGATGT	0.443000													23	44					0	0	0.002299	0	0
GAPVD1	26130	broad.mit.edu	37	9	128061327	128061327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:128061327C>T	ENST00000470056.1	+	2	287	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	GAPVD1_ENST00000394104.2_Missense_Mutation_p.R43C|GAPVD1_ENST00000394105.2_Missense_Mutation_p.R43C|GAPVD1_ENST00000312123.9_Missense_Mutation_p.R43C|GAPVD1_ENST00000265956.4_Missense_Mutation_p.R43C|GAPVD1_ENST00000495955.1_Missense_Mutation_p.R43C|GAPVD1_ENST00000394084.1_Missense_Mutation_p.R43C|GAPVD1_ENST00000297933.6_Missense_Mutation_p.R43C|GAPVD1_ENST00000394083.2_Missense_Mutation_p.R43C			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	43					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAAGTTGTATCGTACAGCATG	0.403000													55	10					0	0	0.003610	0	0
TPO	7173	broad.mit.edu	37	2	1457515	1457515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1457515C>T	ENST00000345913.4	+	6	623	c.532C>T	c.(532-534)Cct>Tct	p.P178S	TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.P178S|TPO_ENST00000349624.3_Missense_Mutation_p.P178S|TPO_ENST00000337415.3_Missense_Mutation_p.P178S|TPO_ENST00000382201.3_Missense_Mutation_p.P178S|TPO_ENST00000329066.4_Missense_Mutation_p.P178S|TPO_ENST00000382198.1_Missense_Mutation_p.P178S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	178					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACGATGGCTCCCTCCAGTCTA	0.602000													19	38					0	0	0.000958	0	0
FBXO24	26261	broad.mit.edu	37	7	100187602	100187602	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100187602G>A	ENST00000241071.6	+	2	364	c.42G>A	c.(40-42)gtG>gtA	p.V14V	FBXO24_ENST00000468962.1_Silent_p.V2V|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.V14V|FBXO24_ENST00000427939.2_Silent_p.V52V|FBXO24_ENST00000465843.1_Silent_p.V14V	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	14						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTGGGTAGGTGAAGAGAAGCT	0.557000													14	56					0	0	0.004990	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449252	104449252	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:104449252G>A	ENST00000361820.3	-	2	1530	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	310					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGATCTGTAGGAAGCTCAAGA	0.493000													44	9					0	0	0.001706	0	0
SCAMP2	10066	broad.mit.edu	37	15	75143738	75143738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75143738G>A	ENST00000268099.9	-	5	537	c.428C>T	c.(427-429)gCc>gTc	p.A143V		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	143					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CTGGTAGTCGGCAGGGATCTC	0.552000													24	48					0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9083502	9083502	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9083502C>T	ENST00000397910.4	-	1	8516	c.8313G>A	c.(8311-8313)acG>acA	p.T2771T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2771	Ser-rich.|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						CTACCAAAGCCGTTGTCTCTG	0.502000													19	21					0	0	0.000958	0	0
MFAP3L	9848	broad.mit.edu	37	4	170912661	170912661	+	Silent	SNP	G	G	A	rs148626017		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:170912661G>A	ENST00000361618.3	-	3	1405	c.1098C>T	c.(1096-1098)acC>acT	p.T366T	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.T263T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	366						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATGTTAGCTCGGTGGACGTGA	0.512000													38	48					0	0	0.001706	0	0
CEL	1056	broad.mit.edu	37	9	135946631	135946631	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:135946631C>T	ENST00000372080.4	+	11	1767	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L	CEL_ENST00000351304.7_Missense_Mutation_p.P515L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	581	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAGACCGCCCCCGTGCCGCCC	0.801000													42	7					0	0	0.002522	0	0
MRVI1	10335	broad.mit.edu	37	11	10622540	10622540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:10622540C>T	ENST00000547195.1	-	14	2169	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	MRVI1_ENST00000534266.2_Missense_Mutation_p.E333K|MRVI1_ENST00000558540.1_Missense_Mutation_p.E333K|MRVI1_ENST00000531107.1_Missense_Mutation_p.E640K|MRVI1_ENST00000424001.1_Missense_Mutation_p.E333K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E557K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E557K|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000436272.1_Missense_Mutation_p.E621K|MRVI1_ENST00000423302.2_Missense_Mutation_p.E648K|MRVI1_ENST00000421747.1_Missense_Mutation_p.E639K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E442K|MRVI1_ENST00000545852.1_Missense_Mutation_p.E333K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	621					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGTCCTTCTCATACGTCCTC	0.522000													75	111					0	0	0.003610	0	0
KLK12	43849	broad.mit.edu	37	19	51535133	51535133	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51535133C>T	ENST00000525263.1	-	3	575	c.457_splice	c.e3+1	p.R152_splice	KLK12_ENST00000529888.1_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000319590.4_Splice_Site_p.R152_splice|KLK12_ENST00000250351.4_Splice_Site_p.R152_splice			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	152	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCCCCTTACTCCGTGGGTGGT	0.627000													32	55					0	0	0.001287	0	0
ITGA4	3676	broad.mit.edu	37	2	182374408	182374408	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:182374408C>T	ENST00000397033.2	+	16	2149	c.1719C>T	c.(1717-1719)acC>acT	p.T573T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	573					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACATCCTCACCCCAATTCAGA	0.393000													19	41					0	0	0.002299	0	0
LRP1B	53353	broad.mit.edu	37	2	141110608	141110608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141110608G>A	ENST00000389484.3	-	76	12535	c.11564C>T	c.(11563-11565)tCc>tTc	p.S3855F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3855	EGF-like 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACATTGATGGGAACATGTGCC	0.358000										TSP Lung(27;0.18)			46	74					0	0	0.003610	0	0
GPR112	139378	broad.mit.edu	37	X	135428482	135428482	+	Missense_Mutation	SNP	G	G	A	rs143735478		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:135428482G>A	ENST00000394143.1	+	6	2908	c.2617G>A	c.(2617-2619)Gaa>Aaa	p.E873K	GPR112_ENST00000394141.1_Missense_Mutation_p.E668K|GPR112_ENST00000287534.4_Missense_Mutation_p.E810K|GPR112_ENST00000412101.1_Missense_Mutation_p.E668K|GPR112_ENST00000370652.1_Missense_Mutation_p.E873K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	873					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGTGACAGACGAATCAGCACA	0.403000													102	14					0	0	0.003610	0	0
ZNF536	9745	broad.mit.edu	37	19	30936197	30936197	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:30936197G>A	ENST00000355537.3	+	2	1875	c.1728G>A	c.(1726-1728)caG>caA	p.Q576Q		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCTCCAAGCAGAAAATGCCTG	0.522000													28	39					0	0	0.004656	0	0
IFNA6	3443	broad.mit.edu	37	9	21350703	21350703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:21350703G>A	ENST00000380210.1	-	1	674	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	62					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			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCCTCCTGGGGAAATCTGAAG	0.512000													36	15					0	0	0.005524	0	0
E2F6	1876	broad.mit.edu	37	2	11593743	11593743	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:11593743G>A	ENST00000381525.3	-	3	614	c.345C>T	c.(343-345)ctC>ctT	p.L115L	E2F6_ENST00000307236.4_Silent_p.L83L|E2F6_ENST00000362009.4_Silent_p.L115L|E2F6_ENST00000542100.1_Silent_p.L40L|E2F6_ENST00000546212.1_Silent_p.L40L	NM_198256.2	NP_937987.2	O75461	E2F6_HUMAN	E2F transcription factor 6	115					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TCTTTTCAACGAGGTCGATTC	0.423000													37	77					0	0	0.002522	0	0
C1orf173	127254	broad.mit.edu	37	1	75055612	75055612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:75055612C>T	ENST00000326665.5	-	12	2097	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	C1orf173_ENST00000420661.2_Missense_Mutation_p.D430N|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	627	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						CTTGGCTTATCATTTTCACTC	0.458000													38	63					0	0	0.001706	0	0
FREM1	158326	broad.mit.edu	37	9	14824054	14824054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:14824054G>A	ENST00000380881.4	-	13	2956	c.2141C>T	c.(2140-2142)cCt>cTt	p.P714L	FREM1_ENST00000422223.2_Missense_Mutation_p.P713L|FREM1_ENST00000380880.3_Missense_Mutation_p.P713L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	713					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGGGCCGTAGGATTCTTAAC	0.433000													4	1					0	0	0.001168	0	0
NTM	50863	broad.mit.edu	37	11	132184491	132184491	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:132184491C>T	ENST00000374786.1	+	6	1307	c.828C>T	c.(826-828)ttC>ttT	p.F276F	NTM_ENST00000374784.1_Silent_p.F276F|NTM_ENST00000427481.2_Silent_p.F267F|NTM_ENST00000425719.2_Silent_p.F276F|NTM_ENST00000539799.1_Silent_p.F276F|NTM_ENST00000374791.3_Silent_p.F276F|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	276	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ACAGACCTTTCCTCTCAAAAC	0.428000													29	32					0	0	0.002836	0	0
C6	729	broad.mit.edu	37	5	41159322	41159322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41159322G>A	ENST00000263413.3	-	12	1982	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	C6_ENST00000337836.5_Missense_Mutation_p.S573F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	573	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGTACTCCAGGAAGACCAACA	0.522000													15	16					0	0	0.002450	0	0
TRPM6	140803	broad.mit.edu	37	9	77403532	77403532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:77403532C>T	ENST00000451710.3	-	20	2902	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.E884K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E889K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E884K|TRPM6_ENST00000360774.1_Missense_Mutation_p.E889K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	889					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TAACTCACCTCCCTGACCACC	0.493000													60	12					0	0	0.003610	0	0
LY9	4063	broad.mit.edu	37	1	160769557	160769557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160769557G>A	ENST00000263285.5	+	2	169	c.139G>A	c.(139-141)Gga>Aga	p.G47R	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.G7R|LY9_ENST00000341032.4_Missense_Mutation_p.G47R|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.G47R	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	47					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGAGCCTCTGGAAAGGACTC	0.507000													34	19					0	0	0.003755	0	0
CYB561A3	220002	broad.mit.edu	37	11	61120466	61120466	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:61120466A>G	ENST00000426130.2	-	6	1369	c.590T>C	c.(589-591)tTc>tCc	p.F197S	CYB561A3_ENST00000447532.2_Missense_Mutation_p.F180S|CYB561A3_ENST00000539890.1_Intron|CYB561A3_ENST00000540317.1_5'UTR|CYB561A3_ENST00000546151.1_3'UTR|CYB561A3_ENST00000536915.1_Missense_Mutation_p.F180S|CYB561A3_ENST00000544118.1_Intron|CYB561A3_ENST00000294072.4_Missense_Mutation_p.F180S	NM_001161454.1	NP_001154926.1			cytochrome b561 family, member A3																		CAAACTGAAGAAAAGCTTCTC	0.507000													11	17					0	0	0.000978	0	0
KLRK1	22914	broad.mit.edu	37	12	10530807	10530807	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:10530807G>A	ENST00000240618.6	-	7	597	c.457C>T	c.(457-459)Cat>Tat	p.H153Y	RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.H153Y|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	153	C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CCCATCCAATGATATGACTTC	0.383000													32	48					0	0	0.003271	0	0
SMARCA2	6595	broad.mit.edu	37	9	2054680	2054680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:2054680C>T	ENST00000382203.1	+	6	1339	c.1130C>T	c.(1129-1131)aCc>aTc	p.T377I	SMARCA2_ENST00000357248.2_Missense_Mutation_p.T377I|SMARCA2_ENST00000349721.2_Missense_Mutation_p.T377I|SMARCA2_ENST00000382194.1_Missense_Mutation_p.T377I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	377					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACCAAAGCAACCGTGGAACTA	0.403000													31	15					0	0	0.002445	0	0
MCEE	84693	broad.mit.edu	37	2	71351523	71351523	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71351523A>T	ENST00000244217.5	-	2	208	c.191T>A	c.(190-192)tTt>tAt	p.F64Y		NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase	64					fatty acid beta-oxidation|L-methylmalonyl-CoA metabolic process	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						ATTCTTATAAAATGCTGCAGC	0.473000													47	93					0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617118	77617118	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77617118C>T	ENST00000521891.2	+	2	1243	c.795C>T	c.(793-795)ttC>ttT	p.F265F	ZFHX4_ENST00000518282.1_Silent_p.F265F|ZFHX4_ENST00000050961.6_Silent_p.F265F|ZFHX4_ENST00000455469.2_Silent_p.F265F|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	265						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)			TGTCCAAATTCGATGGTTGTG	0.423000										HNSCC(33;0.089)			23	61					0	0	0.002299	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453717	84453717	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:84453717G>A	ENST00000377084.2	-	1	2811	c.1926C>T	c.(1924-1926)atC>atT	p.I642I		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	642						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGTTCCTCAGGATAAACACGA	0.562000													11	7					0	0	0.001855	0	0
OR13F1	138805	broad.mit.edu	37	9	107266963	107266963	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:107266963C>T	ENST00000334726.2	+	1	509	c.420C>T	c.(418-420)acC>acT	p.T140T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATAGGAGAACCTGTGTGCAGA	0.532000													69	9					0	0	0.003610	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036380	71036380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:71036380G>A	ENST00000333538.5	+	6	1707	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	358	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATTGAACTGGGAATCAAGGTT	0.478000													30	39					0	0	0.003271	0	0
SLIT1	6585	broad.mit.edu	37	10	98807587	98807587	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:98807587C>T	ENST00000266058.4	-	16	1739	c.1494G>A	c.(1492-1494)acG>acA	p.T498T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.T498T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	498					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTAATCCTCCGTGCCTGCCA	0.652000													8	15					0	0	0.003080	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42364024	42364024	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42364024G>A	ENST00000290472.3	-	15	1615	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	507	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCCGTCCCATGAAGAACTCGG	0.617000													6	21					0	0	0.003080	0	0
KIF1A	547	broad.mit.edu	37	2	241683418	241683418	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:241683418G>A	ENST00000498729.2	-	33	3771	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	KIF1A_ENST00000320389.7_Silent_p.F1074F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1074					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAAAGACCTCGAAAACAATGG	0.627000													49	78					0	0	0.003610	0	0
TOP1MT	116447	broad.mit.edu	37	8	144407676	144407676	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144407676G>A	ENST00000523676.1	-	6	622	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	TOP1MT_ENST00000521193.1_Nonsense_Mutation_p.Q73*|TOP1MT_ENST00000329245.4_Nonsense_Mutation_p.Q171*|TOP1MT_ENST00000519148.1_Nonsense_Mutation_p.Q73*			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	171					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AACTCTTGCTGAAGTTTTTCT	0.458000													26	74					0	0	0.005443	0	0
AHNAK	79026	broad.mit.edu	37	11	62284730	62284730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62284730G>A	ENST00000378024.4	-	5	17433	c.17159C>T	c.(17158-17160)tCc>tTc	p.S5720F	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5720					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTAGGTTTGGAAAAATTAAA	0.493000													41	58					0	0	0.003610	0	0
QSOX1	5768	broad.mit.edu	37	1	180165992	180165992	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:180165992C>T	ENST00000367602.3	+	12	2138	c.2064C>T	c.(2062-2064)gcC>gcT	p.A688A	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	688					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGCTGGAGGCCCGAGCTGGAC	0.667000													18	29					0	0	0.000958	0	0
SYVN1	84447	broad.mit.edu	37	11	64900474	64900474	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64900474G>A	ENST00000526060.1	-	4	489	c.297C>T	c.(295-297)ttC>ttT	p.F99F	SYVN1_ENST00000307289.6_Silent_p.F99F|SYVN1_ENST00000377190.3_Silent_p.F99F|SYVN1_ENST00000294256.8_Silent_p.F99F			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	99					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AGCGGGGGCTGAAGTCATCCC	0.542000													7	22					0	0	0.001984	0	0
LGI2	55203	broad.mit.edu	37	4	25005151	25005151	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:25005151C>T	ENST00000382114.4	-	8	1745	c.1560G>A	c.(1558-1560)agG>agA	p.R520R		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	520						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AGAAATCTCTCCTGTCGGTGG	0.398000													21	29					0	0	0.001216	0	0
USHBP1	83878	broad.mit.edu	37	19	17373797	17373797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17373797G>A	ENST00000252597.3	-	4	379	c.206C>T	c.(205-207)aCt>aTt	p.T69I	USHBP1_ENST00000598570.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.T5I	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	69							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTTCTTGTCAGTCCTGTGGAC	0.562000													34	35					0	0	0.004289	0	0
IGLL5	100423062	broad.mit.edu	37	22	23235926	23235926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:23235926C>T	ENST00000532223.1	+	2	530	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	IGLL5_ENST00000526893.1_Missense_Mutation_p.P85S|IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000531372.1_Intron			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	85						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						CAGGTGCTGGCCCCGGGGGTT	0.627000													7	9					0	0	0.003080	0	0
CNGA3	1261	broad.mit.edu	37	2	99012639	99012639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:99012639G>A	ENST00000393504.1	+	8	1423	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I	CNGA3_ENST00000409937.1_Missense_Mutation_p.V340I|CNGA3_ENST00000436404.2_Missense_Mutation_p.V318I|CNGA3_ENST00000272602.2_Missense_Mutation_p.V336I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	336					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGACTCCTGGGTCTACCCAAA	0.483000													32	39					0	0	0.003271	0	0
RYR2	6262	broad.mit.edu	37	1	237632407	237632407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:237632407G>A	ENST00000366574.2	+	17	1945	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	RYR2_ENST00000542537.1_Missense_Mutation_p.G527E|RYR2_ENST00000360064.6_Missense_Mutation_p.G541E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	543					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)			CTAATTAGAGGAAATCGTAAA	0.373000													36	45					0	0	0.004878	0	0
LGI3	203190	broad.mit.edu	37	8	22005901	22005901	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:22005901G>A	ENST00000306317.2	-	8	1708	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	LGI3_ENST00000424267.2_Silent_p.F449F	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	473					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CACCCACAAGGAAGGGCTGCA	0.642000													14	0					0	0	0.003163	0	0
FNDC3A	22862	broad.mit.edu	37	13	49688850	49688850	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:49688850C>T	ENST00000492622.2	+	4	540	c.235C>T	c.(235-237)Cct>Tct	p.P79S	FNDC3A_ENST00000541916.1_Missense_Mutation_p.P79S|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P23S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	79	Pro-rich.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTATGTGCCTCCTGGATATGC	0.358000													202	169					0	0	0.003610	0	0
GPR116	221395	broad.mit.edu	37	6	46830831	46830831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46830831C>T	ENST00000283296.7	-	15	2281	c.1993G>A	c.(1993-1995)Gaa>Aaa	p.E665K	GPR116_ENST00000545669.1_Missense_Mutation_p.E94K|GPR116_ENST00000362015.4_Missense_Mutation_p.E665K|GPR116_ENST00000265417.7_Missense_Mutation_p.E665K|GPR116_ENST00000456426.2_Missense_Mutation_p.E523K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	665					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTGATGTTTTCCCCTGTGTTG	0.453000													10	19					0	0	0.000673	0	0
NEB	4703	broad.mit.edu	37	2	152352869	152352869	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152352869T>A	ENST00000397345.3	-	173	24609	c.24407A>T	c.(24406-24408)gAa>gTa	p.E8136V	NEB_ENST00000397336.2_Missense_Mutation_p.E111V|NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.E8136V|RIF1_ENST00000457745.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.E8136V|NEB_ENST00000172853.10_Missense_Mutation_p.E6280V|NEB_ENST00000427231.2_Missense_Mutation_p.E8136V|NEB_ENST00000509223.2_Missense_Mutation_p.E80V|NEB_ENST00000409198.1_Missense_Mutation_p.E6280V	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6440					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCCATGTTTTCTTTGTATAA	0.408000													9	12					0	0	0.001368	0	0
MEX3A	92312	broad.mit.edu	37	1	156047386	156047386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156047386C>T	ENST00000532414.2	-	2	541	c.542G>A	c.(541-543)gGg>gAg	p.G181E	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	181	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTCCCGTCGCCCTGTCACCAT	0.612000													19	8					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179514546	179514546	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179514546T>G	ENST00000589042.1	-	211	40117	c.39893A>C	c.(39892-39894)aAa>aCa	p.K13298T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11791T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K10864T|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11647							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)			ATGAGTACCTTTAGGAGGCGG	0.348000													45	70					0	0	0.003610	0	0
CACNA1C	775	broad.mit.edu	37	12	2786382	2786382	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:2786382C>T	ENST00000399655.1	+	40	5216	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L	CACNA1C_ENST00000335762.5_Silent_p.L1676L|CACNA1C_ENST00000399638.1_Silent_p.L1679L|CACNA1C_ENST00000399649.1_Silent_p.L1657L|CACNA1C_ENST00000399597.1_Silent_p.L1651L|CACNA1C_ENST00000399621.1_Silent_p.L1670L|CACNA1C_ENST00000347598.4_Silent_p.L1699L|CACNA1C_ENST00000327702.7_Silent_p.L1651L|CACNA1C_ENST00000399641.1_Silent_p.L1651L|CACNA1C_ENST00000399603.1_Silent_p.L1651L|CACNA1C_ENST00000399629.1_Silent_p.L1668L|CACNA1C_ENST00000399644.1_Silent_p.L1651L|CACNA1C_ENST00000344100.3_Silent_p.L1692L|CACNA1C_ENST00000399595.1_Silent_p.L1659L|CACNA1C_ENST00000402845.3_Silent_p.L1670L|CACNA1C_ENST00000399637.1_Silent_p.L1670L|CACNA1C_ENST00000399606.1_Silent_p.L1671L|CACNA1C_ENST00000399617.1_Silent_p.L1651L|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Silent_p.L1659L|CACNA1C_ENST00000399601.1_Silent_p.L1651L|CACNA1C_ENST00000399634.1_Silent_p.L1651L|CACNA1C_ENST00000406454.3_Silent_p.L1651L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1699					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCGCTGTCTCTGCAGGTGAG	0.637000													11	12					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9058245	9058245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9058245G>A	ENST00000397910.4	-	3	29404	c.29201C>T	c.(29200-29202)cCt>cTt	p.P9734L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9736	Ser-rich.|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						GGTCGTGAGAGGTAATGATGT	0.502000													14	20					0	0	0.003163	0	0
ITGAX	3687	broad.mit.edu	37	16	31367986	31367986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:31367986C>T	ENST00000268296.4	+	3	305	c.184C>T	c.(184-186)Caa>Taa	p.Q62*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.Q62*|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	62					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGCTGCCAACCAAACGGGTGG	0.622000													7	12					0	0	0.004482	0	0
AFF3	3899	broad.mit.edu	37	2	100171180	100171180	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:100171180G>A	ENST00000317233.4	-	22	3535	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	AFF3_ENST00000409579.1_Silent_p.A1125A|AFF3_ENST00000356421.2_Silent_p.A1125A|AFF3_ENST00000409236.1_Silent_p.A1100A	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1100					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGGCTTGGGCGGCTTTAGATG	0.512000													14	24					0	0	0.003163	0	0
SCN2A	6326	broad.mit.edu	37	2	166170157	166170157	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166170157G>A	ENST00000375437.2	+	9	1352	c.1062G>A	c.(1060-1062)gtG>gtA	p.V354V	SCN2A_ENST00000375427.2_Silent_p.V354V|SCN2A_ENST00000357398.3_Silent_p.V354V|SCN2A_ENST00000283256.6_Silent_p.V354V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	354					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACATCTGTGTGAAGGCTGGTA	0.413000													43	65					0	0	0.003610	0	0
DBX2	440097	broad.mit.edu	37	12	45410113	45410113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:45410113C>T	ENST00000332700.6	-	4	1147	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	326						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E326*(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		GCTTCTTCTTCAGAACATAAA	0.448000													22	37					0	0	0.002299	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627006	108627006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108627006C>T	ENST00000264047.2	+	9	1708	c.1432C>T	c.(1432-1434)Cca>Tca	p.P478S	SLC5A7_ENST00000540517.1_Missense_Mutation_p.P373S|SLC5A7_ENST00000409059.1_Missense_Mutation_p.P478S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	478					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.P478S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCAGAAATTTCCATTTAAAAC	0.383000													27	36					0	0	0.004656	0	0
NRAP	4892	broad.mit.edu	37	10	115383364	115383364	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:115383364T>A	ENST00000369358.4	-	23	2649	c.2405A>T	c.(2404-2406)aAa>aTa	p.K802I	NRAP_ENST00000359988.3_Missense_Mutation_p.K794I|NRAP_ENST00000360478.3_Missense_Mutation_p.K759I|NRAP_ENST00000369360.3_Missense_Mutation_p.K767I			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	794						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCCTTTTGCTTTCTGGTTTTC	0.502000													26	54					0	0	0.001512	0	0
RAVER2	55225	broad.mit.edu	37	1	65272917	65272917	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:65272917G>A	ENST00000294428.3	+	9	1518	c.1440G>A	c.(1438-1440)acG>acA	p.T480T	RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Silent_p.T467T			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	480						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CTCAAACAACGATAACAGCTG	0.403000													20	31					0	0	0.002780	0	0
NFATC1	4772	broad.mit.edu	37	18	77246884	77246884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:77246884C>T	ENST00000329101.4	+	9	2746	c.2690C>T	c.(2689-2691)cCt>cTt	p.P897L	NFATC1_ENST00000427363.2_Missense_Mutation_p.P910L|NFATC1_ENST00000542384.1_Intron|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000586434.1_Intron|NFATC1_ENST00000318065.5_Intron|NFATC1_ENST00000253506.5_Intron|NFATC1_ENST00000545796.1_Missense_Mutation_p.P438L	NM_001278669.1|NM_001278673.1|NM_172387.1	NP_001265598.1|NP_001265602.1|NP_765975.1	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	910	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCCCCTATTCCTGTAACGGTC	0.637000													15	37					0	0	0.004990	0	0
DOPEY1	23033	broad.mit.edu	37	6	83866994	83866994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:83866994C>T	ENST00000349129.2	+	35	6958	c.6698C>T	c.(6697-6699)cCc>cTc	p.P2233L	DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.P2224L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2233					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGAATGTCTCCCCAACATCTT	0.383000													27	64					0	0	0.001271	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679502	160679502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:160679502C>T	ENST00000366952.1	-	3	1706	c.225G>A	c.(223-225)tgG>tgA	p.W75*	SLC22A2_ENST00000366953.3_Nonsense_Mutation_p.W96*|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	96					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TGCTCTGGTTCCAGTCCACCT	0.677000													24	35					0	0	0.005443	0	0
DYNAP	284254	broad.mit.edu	37	18	52265242	52265242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:52265242C>T	ENST00000321600.1	+	3	545	c.499C>T	c.(499-501)Cct>Tct	p.P167S	DYNAP_ENST00000585973.1_Missense_Mutation_p.P115S	NM_173629.1	NP_775900.1			dynactin associated protein																		AACACCCTCTCCTGCTTGTCC	0.473000													15	24					0	0	0.003163	0	0
STAB2	55576	broad.mit.edu	37	12	104105273	104105273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:104105273G>A	ENST00000388887.2	+	40	4517	c.4313G>A	c.(4312-4314)gGg>gAg	p.G1438E		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1438	EGF-like 11.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACTGCAATGGGACATGCCAT	0.468000													37	51					0	0	0.001951	0	0
LGALS9B	284194	broad.mit.edu	37	17	20358623	20358623	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:20358623C>G	ENST00000423676.3	-	5	596	c.533G>C	c.(532-534)aGa>aCa	p.R178T	LGALS9B_ENST00000324290.5_Missense_Mutation_p.R178T			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	178							sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CACTTTTTGTCTGCGCCCCCT	0.622000													8	1					0	0	0.002450	0	0
PDGFRA	5156	broad.mit.edu	37	4	55154975	55154975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:55154975C>T	ENST00000257290.5	+	20	3015	c.2684C>T	c.(2683-2685)cCt>cTt	p.P895L	FIP1L1_ENST00000507166.1_Missense_Mutation_p.P655L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	895	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGTGGCACCCCTTACCCCGGC	0.468000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			17	32					0	0	0.006122	0	0
ZNF160	90338	broad.mit.edu	37	19	53571981	53571981	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:53571981A>T	ENST00000601421.1	-	3	2574	c.1698T>A	c.(1696-1698)ttT>ttA	p.F566L	ZNF160_ENST00000418871.1_Missense_Mutation_p.F602L|ZNF160_ENST00000429604.1_Missense_Mutation_p.F602L|ZNF160_ENST00000599056.1_Missense_Mutation_p.F602L			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	602					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AACGATCACTAAAGGCTCTGC	0.408000													43	62					0	0	0.002222	0	0
LRRC52	440699	broad.mit.edu	37	1	165514118	165514118	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:165514118C>T	ENST00000294818.1	+	1	875	c.585C>T	c.(583-585)ttC>ttT	p.F195F	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	195	LRRCT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TCCTGGACTTCGCCATCTTCT	0.512000													45	79					0	0	0.003610	0	0
XIST	7503	broad.mit.edu	37	X	73062187	73062187	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73062187G>A	ENST00000429829.1	-	0	10401					NR_001564.2																						AGTGTACACTGGAAACACAAA	0.443000													5	1					0	0	0.001168	0	0
HNRNPL	3191	broad.mit.edu	37	19	39338030	39338030	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39338030G>A	ENST00000221419.5	-	2	678	c.312C>T	c.(310-312)gtC>gtT	p.V104V	HNRNPL_ENST00000600873.1_5'UTR	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	104	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CCCTGATGTGGACAACTGGGG	0.532000													18	36					0	0	0.000958	0	0
OR10C1	442194	broad.mit.edu	37	6	29408570	29408570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29408570C>T	ENST00000444197.2	+	1	1488	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TATCTATATTCGCCCTAAGGC	0.582000													70	87					0	0	0.003610	0	0
ABCA2	20	broad.mit.edu	37	9	139905529	139905529	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:139905529G>A	ENST00000265662.5	-	39	6099	c.5952C>T	c.(5950-5952)ttC>ttT	p.F1984F	ABCA2_ENST00000371605.3_Silent_p.F1983F|ABCA2_ENST00000341511.6_Silent_p.F1984F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1983					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)		TGTCCCACTCGAACGGGGACT	0.672000													18	5					0	0	0.004990	0	0
CSMD2	114784	broad.mit.edu	37	1	34191066	34191066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:34191066C>T	ENST00000373381.4	-	17	2755	c.2579G>A	c.(2578-2580)gGg>gAg	p.G860E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	820	CUB 5.					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)				GTGGTAAACCCCGATCAAGGG	0.532000													16	22					0	0	0.004990	0	0
FUT11	170384	broad.mit.edu	37	10	75533490	75533490	+	Silent	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:75533490C>G	ENST00000372841.3	+	2	1294	c.1251C>G	c.(1249-1251)ccC>ccG	p.P417P	FUT11_ENST00000394790.1_Silent_p.P417P|FUT11_ENST00000465695.1_3'UTR	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	417					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					TCTTTGAGCCCCACATTGCCC	0.597000													30	28					0	0	0.001061	0	0
ZPBP2	124626	broad.mit.edu	37	17	38028531	38028531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38028531G>A	ENST00000377940.3	+	4	488	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	ZPBP2_ENST00000348931.4_Missense_Mutation_p.E139K|ZPBP2_ENST00000584588.1_Intron	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	139					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCCTATCGGGAACCTGATTA	0.328000													66	17					0	0	0.003610	0	0
NOS1AP	9722	broad.mit.edu	37	1	162124242	162124242	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:162124242C>T	ENST00000361897.5	+	2	555	c.153C>T	c.(151-153)atC>atT	p.I51I	NOS1AP_ENST00000530878.1_Silent_p.I51I	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	51	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GGGTGGAGATCGTGGCTGCCA	0.602000													28	18					0	0	0.001786	0	0
C1R	715	broad.mit.edu	37	12	7244175	7244175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7244175G>A	ENST00000542285.1	-	2	250	c.101C>T	c.(100-102)cCc>cTc	p.P34L				P00736	C1R_HUMAN	complement component 1, r subcomponent	35	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTAAGGCTTGGGGAACAGAGG	0.557000													3	3					0	0	0.004672	0	0
KCNN3	3782	broad.mit.edu	37	1	154680613	154680613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:154680613C>T	ENST00000271915.3	-	8	2350	c.2035G>A	c.(2035-2037)Gac>Aac	p.D679N	KCNN3_ENST00000358505.2_Missense_Mutation_p.D366N|KCNN3_ENST00000361147.4_Missense_Mutation_p.D374N|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	684						integral to membrane	calmodulin binding	p.D679N(1)|p.D374N(1)		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)			CGCAGGGTGTCGGCGATGAGC	0.637000													49	65					0	0	0.003610	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24874769	24874769	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:24874769G>A	ENST00000396432.2	-	26	4935	c.4449C>T	c.(4447-4449)ccC>ccT	p.P1483P		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1482					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGTCGTGCTGGGGTCTTTCC	0.428000													102	106					0	0	0.003610	0	0
C6orf222	389384	broad.mit.edu	37	6	36298334	36298334	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:36298334C>T	ENST00000437635.2	-	2	311	c.134G>A	c.(133-135)aGg>aAg	p.R45K		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	45										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AAGCGCCTTCCTGGAGGGGGC	0.657000													30	37					0	0	0.001512	0	0
MGAM	8972	broad.mit.edu	37	7	141731539	141731539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:141731539G>A	ENST00000475668.2	+	13	1584	c.1530G>A	c.(1528-1530)tgG>tgA	p.W510*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.W510*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	510	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGTTTGGTGGACAAAGGAAT	0.363000													55	67					0	0	0.003610	0	0
PDC	5132	broad.mit.edu	37	1	186415700	186415700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:186415700C>T	ENST00000391997.2	-	3	158	c.71G>A	c.(70-72)gGa>gAa	p.G24E	PDC_ENST00000340129.5_Missense_Mutation_p.G24E|PDC_ENST00000497198.1_5'UTR	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	24					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		ATTTATTACTCCTTTGGGTCC	0.328000													28	55					0	0	0.001786	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705054	77705054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:77705054G>A	ENST00000298351.4	+	10	813	c.669G>A	c.(667-669)atG>atA	p.M223I		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	223						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GGACACTAATGATCACCTATG	0.473000													18	6					0	0	0.002299	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37534638	37534638	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:37534638C>T	ENST00000299824.1	+	7	912	c.723C>T	c.(721-723)taC>taT	p.Y241Y	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	241					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCAATGGATACCTGCGGGCAG	0.597000													40	21					0	0	0.003610	0	0
CARD11	84433	broad.mit.edu	37	7	2963988	2963988	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:2963988C>T	ENST00000396946.4	-	15	2222	c.1819G>A	c.(1819-1821)Gaa>Aaa	p.E607K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	607					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAGTAGCGTTCGTGACTGTCA	0.642000			Mis		DLBCL								11	24					0	0	0.001855	0	0
TENM3	55714	broad.mit.edu	37	4	183650188	183650188	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:183650188G>A	ENST00000511685.1	+	14	2562	c.2439G>A	c.(2437-2439)cgG>cgA	p.R813R	TENM3_ENST00000406950.2_Silent_p.R813R|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		CCTATTGTCGGGGACTGCCGG	0.478000													17	35					0	0	0.004990	0	0
OXCT1	5019	broad.mit.edu	37	5	41801134	41801134	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41801134G>A	ENST00000196371.5	-	11	1249	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	OXCT1_ENST00000509987.1_Silent_p.L177L	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	363					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CTGCATTGATGAGATCTGCAT	0.358000													22	40					0	0	0.003954	0	0
DCN	1634	broad.mit.edu	37	12	91572327	91572327	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:91572327C>T	ENST00000551354.1	-	2	207	c.3G>A	c.(1-3)atG>atA	p.M1I	DCN_ENST00000550099.1_Start_Codon_SNP_p.M1I|DCN_ENST00000052754.5_Start_Codon_SNP_p.M1I|DCN_ENST00000393155.1_Start_Codon_SNP_p.M1I|DCN_ENST00000425043.1_Start_Codon_SNP_p.M1I|DCN_ENST00000228329.5_Start_Codon_SNP_p.M1I|DCN_ENST00000547568.2_Start_Codon_SNP_p.M1I|DCN_ENST00000552962.1_Start_Codon_SNP_p.M1I|DCN_ENST00000420120.2_Start_Codon_SNP_p.M1I|DCN_ENST00000456569.2_Start_Codon_SNP_p.M1I|DCN_ENST00000546745.1_Start_Codon_SNP_p.M1I|DCN_ENST00000303320.3_Start_Codon_SNP_p.M1I|DCN_ENST00000546370.1_Start_Codon_SNP_p.M1I|DCN_ENST00000441303.2_Start_Codon_SNP_p.M1I			P07585	PGS2_HUMAN	decorin	1					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TAGTGGCCTTCATGATTTATC	0.413000											OREG0022021	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	23					0	0	0.003163	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703007	27703007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:27703007C>T	ENST00000438700.3	-	1	290	c.173G>A	c.(172-174)gGa>gAa	p.G58E		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	58					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGCCAGGGGTCCTGAGGGTTC	0.701000													27	25					0	0	0.001786	0	0
PSG3	5671	broad.mit.edu	37	19	43244533	43244533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43244533C>T	ENST00000327495.5	-	1	188	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	PSG3_ENST00000595140.1_Missense_Mutation_p.G2R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	2					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GAGAGGGGCCCCATGGTCTCT	0.602000													50	100					0	0	0.003610	0	0
CD5L	922	broad.mit.edu	37	1	157805787	157805787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157805787C>T	ENST00000368174.4	-	3	310	c.214G>A	c.(214-216)Gga>Aga	p.G72R	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	72	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTAGGGGTTCCGCTGGCAGCT	0.542000													88	85					0	0	0.003610	0	0
CCDC173	129881	broad.mit.edu	37	2	170505779	170505779	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:170505779A>G	ENST00000447353.1	-	8	1335	c.1230T>C	c.(1228-1230)gaT>gaC	p.D410D		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		AGAAAATCTGATCTGCTTTCA	0.353000													30	58					0	0	0.001271	0	0
OTOGL	283310	broad.mit.edu	37	12	80707383	80707383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:80707383C>T	ENST00000458043.2	+	30	3557	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1184L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GAAGGAATATCAATTCATTGG	0.358000													39	74					0	0	0.002222	0	0
NME8	51314	broad.mit.edu	37	7	37907457	37907457	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:37907457G>A	ENST00000199447.4	+	11	1147	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	NME8_ENST00000440017.1_Missense_Mutation_p.E259K|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	259					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.E259K(1)									ACCTGAGGTCGAAGCCCAGGT	0.448000													11	13					0	0	0.000978	0	0
MUC7	4589	broad.mit.edu	37	4	71346675	71346675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71346675C>T	ENST00000413702.1	+	4	502	c.214C>T	c.(214-216)Cct>Tct	p.P72S	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.P72S|MUC7_ENST00000304887.5_Missense_Mutation_p.P72S	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	72						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACGCTGTAGGCCTAAGCTTCC	0.448000													46	46					0	0	0.003214	0	0
MUC16	94025	broad.mit.edu	37	19	9072284	9072284	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9072284C>T	ENST00000397910.4	-	3	15365	c.15162G>A	c.(15160-15162)ctG>ctA	p.L5054L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5056	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						TAGAAGAAATCAGGGAAGGTG	0.478000													40	42					0	0	0.004878	0	0
SGK3	23678	broad.mit.edu	37	8	67759428	67759428	+	Splice_Site	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:67759428C>G	ENST00000396596.1	+	15	1289	c.1074_splice	c.e15-1	p.P359_splice	SGK3_ENST00000345714.4_Splice_Site_p.P359_splice|SGK3_ENST00000520976.1_Splice_Site_p.P327_splice|C8orf44-SGK3_ENST00000519289.1_Splice_Site_p.P359_splice|SGK3_ENST00000521198.2_Splice_Site_p.P359_splice|SGK3_ENST00000522398.1_Splice_Site_p.P359_splice	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	359	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTTTTTCCAGCCTCCTTTTTA	0.383000													16	88					0	0	0.001216	0	0
CNOT1	23019	broad.mit.edu	37	16	58592446	58592446	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:58592446G>A	ENST00000317147.5	-	18	2595	c.2263C>T	c.(2263-2265)Cca>Tca	p.P755S	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.P755S|CNOT1_ENST00000569240.1_Missense_Mutation_p.P755S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	755					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GAAAGGGGTGGAAATGCTTTT	0.498000													11	16					0	0	0.001855	0	0
MAP2	4133	broad.mit.edu	37	2	210559607	210559607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:210559607C>T	ENST00000360351.4	+	7	3219	c.2713C>T	c.(2713-2715)Cga>Tga	p.R905*	MAP2_ENST00000447185.1_Nonsense_Mutation_p.R901*|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	905					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGATAAAGTTCGAAGAGATTT	0.453000													23	28					0	0	0.002299	0	0
OR8I2	120586	broad.mit.edu	37	11	55860955	55860955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55860955C>T	ENST00000302124.2	+	1	203	c.172C>T	c.(172-174)Cct>Tct	p.P58S	OR8I2_ENST00000560768.1_Missense_Mutation_p.P58S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCTTCACACCCCTATGTACTT	0.378000													57	98					0	0	0.003610	0	0
COL4A4	1286	broad.mit.edu	37	2	227953465	227953465	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:227953465C>T	ENST00000396625.3	-	22	1734	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	COL4A4_ENST00000329662.7_Silent_p.G509G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	509	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCCTGCCTCCCAGGAAGTC	0.587000													28	26					0	0	0.001271	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220353	10220353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:10220353C>T	ENST00000428358.1	+	6	732	c.560C>T	c.(559-561)cCc>cTc	p.P187L	PPAN_ENST00000556468.1_Missense_Mutation_p.P187L|PPAN_ENST00000253107.7_Missense_Mutation_p.P187L|PPAN_ENST00000393793.1_Missense_Mutation_p.P134L|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.P187L	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		187	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GACTACAACCCCGACTCCCAG	0.602000													60	108					0	0	0.003610	0	0
SVEP1	79987	broad.mit.edu	37	9	113173551	113173551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:113173551C>T	ENST00000401783.2	-	37	6776	c.6440G>A	c.(6439-6441)gGa>gAa	p.G2147E	SVEP1_ENST00000297826.5_Missense_Mutation_p.G73E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G2124E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2147	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGTGGCTCTCCACACCGCAC	0.507000													50	12					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9060853	9060853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9060853G>A	ENST00000397910.4	-	3	26796	c.26593C>T	c.(26593-26595)Cct>Tct	p.P8865S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8867	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P8865T(2)|p.P4498T(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						AGTGGCGAAGGTGAGGTTACT	0.502000													37	57					0	0	0.004289	0	0
LCA5	167691	broad.mit.edu	37	6	80197298	80197298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:80197298G>A	ENST00000392959.1	-	9	2128	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L	LCA5_ENST00000369846.4_Missense_Mutation_p.P506L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	506					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GTATGTTTTGGGGCTTCTCTC	0.388000													49	67					0	0	0.003610	0	0
EXPH5	23086	broad.mit.edu	37	11	108384777	108384777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:108384777C>T	ENST00000265843.4	-	6	1567	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	EXPH5_ENST00000525344.1_Missense_Mutation_p.G479E|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.G410E|EXPH5_ENST00000443411.1_Missense_Mutation_p.G298E	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	486					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAAGAATGTCCTTTCTCTTG	0.423000													27	45					0	0	0.001061	0	0
EPHA4	2043	broad.mit.edu	37	2	222291234	222291234	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:222291234G>A	ENST00000281821.2	-	16	2837	c.2796C>T	c.(2794-2796)ttC>ttT	p.F932F	EPHA4_ENST00000409938.1_Silent_p.F932F|EPHA4_ENST00000409854.1_Silent_p.F932F|EPHA4_ENST00000392071.4_Silent_p.F881F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	932	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.F932F(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGCAGCTGTGAAGTTATCCT	0.463000													29	20					0	0	0.002096	0	0
OR1F1	4992	broad.mit.edu	37	16	3254585	3254585	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3254585C>T	ENST00000304646.2	+	1	339	c.339C>T	c.(337-339)ttC>ttT	p.F113F	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TGGACAATTTCCTCCTAGCTG	0.502000													45	89					0	0	0.002522	0	0
PCDH15	65217	broad.mit.edu	37	10	55626549	55626549	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55626549C>T	ENST00000373965.2	-	28	3985	c.3591G>A	c.(3589-3591)gaG>gaA	p.E1197E	PCDH15_ENST00000395430.1_Silent_p.E1190E|PCDH15_ENST00000395445.1_Silent_p.E1197E|PCDH15_ENST00000395432.2_Silent_p.E1153E|PCDH15_ENST00000395433.1_Silent_p.E1168E|PCDH15_ENST00000361849.3_Silent_p.E1190E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Silent_p.E1195E|PCDH15_ENST00000409834.1_Silent_p.E801E|PCDH15_ENST00000437009.1_Silent_p.E1119E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.E1190E|PCDH15_ENST00000395438.1_Silent_p.E1190E|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1190	Cadherin 11.				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)				CTTCTTTTCCCTCTTTAATTG	0.363000										HNSCC(58;0.16)			33	47					0	0	0.005524	0	0
VPS13B	157680	broad.mit.edu	37	8	100568854	100568854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:100568854C>T	ENST00000358544.2	+	31	5108	c.4997C>T	c.(4996-4998)cCa>cTa	p.P1666L	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P1641L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1666					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTCAAAATCCAGCCCTTGAG	0.408000													12	37					0	0	0.000978	0	0
MAN2B1	4125	broad.mit.edu	37	19	12769289	12769289	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:12769289G>A	ENST00000456935.2	-	8	1102	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	MAN2B1_ENST00000495617.1_Intron|MAN2B1_ENST00000221363.4_Silent_p.S353S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	354					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						AAGCGGGGGTGGAGTAGAGAA	0.622000													7	17					0	0	0.004482	0	0
NUDT4	11163	broad.mit.edu	37	12	93793086	93793086	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:93793086C>T	ENST00000337179.5	+	5	917	c.477C>T	c.(475-477)tcC>tcT	p.S159S	NUDT4_ENST00000549992.1_Silent_p.S106S|NUDT4_ENST00000548662.1_Silent_p.S106S|NUDT4_ENST00000415493.2_Silent_p.S158S|NUDT4_ENST00000547014.1_Silent_p.S107S	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	158					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						CAGTCCCTTCCCTTCCGGATA	0.473000													13	172					0	0	0.001855	0	0
OR56A4	120793	broad.mit.edu	37	11	6023833	6023833	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6023833G>A	ENST00000330728.4	-	1	591	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAATGGATGGCAGATGGCCA	0.498000													11	10					0	0	0.000978	0	0
FAP	2191	broad.mit.edu	37	2	163083048	163083048	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:163083048G>A	ENST00000188790.4	-	3	382	c.175C>T	c.(175-177)Cca>Tca	p.P59S	FAP_ENST00000443424.1_Missense_Mutation_p.P59S	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	59					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATCCAGTTTGGAAAAAATGTT	0.299000													20	27					0	0	0.001523	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146818	185146818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:185146818C>T	ENST00000265026.3	+	2	783	c.449C>T	c.(448-450)tCc>tTc	p.S150F	MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S150F	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	150					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGGCATATTCCACTGATTAC	0.443000													15	16					0	0	0.004007	0	0
PDE11A	50940	broad.mit.edu	37	2	178762793	178762793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:178762793C>T	ENST00000286063.5	-	4	1611	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.E182K|PDE11A_ENST00000409504.1_Missense_Mutation_p.E74K|PDE11A_ENST00000449286.2_Missense_Mutation_p.E74K	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	432	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ACTGGTGATTCGATGTCCTCT	0.348000									Primary Pigmented Nodular Adrenocortical Disease, Familial				35	37					0	0	0.001287	0	0
DNAH5	1767	broad.mit.edu	37	5	13753638	13753638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13753638C>T	ENST00000265104.4	-	63	10680	c.10576G>A	c.(10576-10578)Gct>Act	p.A3526T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3526					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)					GATAGAAAAGCTGTAGCCAAC	0.348000									Kartagener syndrome				50	61					0	0	0.003610	0	0
KLK12	43849	broad.mit.edu	37	19	51535145	51535145	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51535145G>A	ENST00000525263.1	-	3	563	c.444C>T	c.(442-444)acC>acT	p.T148T	KLK12_ENST00000529888.1_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000319590.4_Silent_p.T148T|KLK12_ENST00000250351.4_Silent_p.T148T			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	148	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GTGGGTGGTTGGTGATGCCCC	0.647000													28	53					0	0	0.002445	0	0
SCN9A	6335	broad.mit.edu	37	2	167055790	167055790	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167055790C>T	ENST00000303354.6	-	27	5702	c.5362G>A	c.(5362-5364)Gag>Aag	p.E1788K	SCN9A_ENST00000375387.4_Missense_Mutation_p.E1788K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E1776K|SCN9A_ENST00000409435.1_Missense_Mutation_p.E1787K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1787						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCAAACTTCTCCCAAACCTCA	0.433000													45	49					0	0	0.003214	0	0
EFCAB14	9813	broad.mit.edu	37	1	47131012	47131012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:47131012G>A	ENST00000544071.1	-	10	2209	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	ATPAF1_ENST00000574428.1_Silent_p.S97S|ATPAF1_ENST00000329231.4_Silent_p.S120S|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000525633.1_5'UTR|ATPAF1_ENST00000371937.4_Silent_p.S97S|ATPAF1_ENST00000532925.1_Silent_p.S9S|ATPAF1_ENST00000576409.1_Silent_p.S120S					EF-hand calcium binding domain 14																		TCTCCAGGCGGGACTCAAAAG	0.473000													14	18					0	0	0.003163	0	0
LRP1B	53353	broad.mit.edu	37	2	141294168	141294168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141294168C>T	ENST00000389484.3	-	46	8595	c.7624G>A	c.(7624-7626)Gaa>Aaa	p.E2542K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2542	LDL-receptor class A 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCAGTTTTTCATCTGATTTA	0.418000										TSP Lung(27;0.18)			29	39					0	0	0.001786	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531413	140531413	+	Silent	SNP	C	C	T	rs144225778		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140531413C>T	ENST00000231136.1	+	1	1575	c.1575C>T	c.(1573-1575)ttC>ttT	p.F525F	PCDHB6_ENST00000543635.1_Silent_p.F389F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGTCTTTCGAGTTCCGCG	0.672000													5	23					0	0	0.001168	0	0
MYH15	22989	broad.mit.edu	37	3	108182070	108182070	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108182070A>G	ENST00000273353.3	-	17	1868	c.1812T>C	c.(1810-1812)ggT>ggC	p.G604G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	604	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTCCAGCCAACCACTGATAT	0.383000													49	83					0	0	0.003610	0	0
HK3	3101	broad.mit.edu	37	5	176314602	176314602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:176314602C>T	ENST00000292432.5	-	11	1541	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	484	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGTCTCCTCCAGCAGGCGC	0.657000													9	7					0	0	0.000673	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691792	77691792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77691792G>A	ENST00000296043.6	+	10	6316	c.5363G>A	c.(5362-5364)gGa>gAa	p.G1788E	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1788	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGCTCATTGGAAGTCTCACC	0.572000													25	21					0	0	0.001512	0	0
CRYBA1	1411	broad.mit.edu	37	17	27581346	27581346	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:27581346G>A	ENST00000225387.3	+	6	628	c.627G>A	c.(625-627)tcG>tcA	p.S209S		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	209	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGATCCAATCGATTCGCCGAA	0.438000													105	22					0	0	0.003610	0	0
DNMT3L	29947	broad.mit.edu	37	21	45671535	45671535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:45671535G>A	ENST00000270172.3	-	9	1223	c.740C>T	c.(739-741)cCc>cTc	p.P247L	DNMT3L_ENST00000418993.1_Missense_Mutation_p.P247L	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	247					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GTGGCCCAGGGGAGGTGTGGC	0.642000													18	43					0	0	0.002780	0	0
SNAP91	9892	broad.mit.edu	37	6	84350864	84350864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:84350864C>T	ENST00000428679.2	-	8	1309	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	SNAP91_ENST00000437520.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000439399.2_Missense_Mutation_p.R239Q|SNAP91_ENST00000521485.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000520302.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000369694.2_Missense_Mutation_p.R239Q|SNAP91_ENST00000195649.6_Missense_Mutation_p.R239Q|SNAP91_ENST00000520213.1_Missense_Mutation_p.R239Q|SNAP91_ENST00000521743.1_Missense_Mutation_p.R239Q			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	239					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGTTAGAAATCGTTTGTAAAT	0.284000													4	5					0	0	0.000602	0	0
P2RX2	22953	broad.mit.edu	37	12	133196666	133196666	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:133196666G>A	ENST00000389110.3	+	5	575	c.538G>A	c.(538-540)Gat>Aat	p.D180N	P2RX2_ENST00000352418.4_Missense_Mutation_p.D108N|P2RX2_ENST00000343948.4_Missense_Mutation_p.D180N|P2RX2_ENST00000351222.4_Missense_Mutation_p.D88N|P2RX2_ENST00000350048.5_Missense_Mutation_p.D156N|P2RX2_ENST00000348800.5_Missense_Mutation_p.D180N|P2RX2_ENST00000449132.2_Missense_Mutation_p.R144K	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	180					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)		CCCGGTGGAAGATGGGGCCTC	0.682000													7	4					0	0	0.001984	0	0
SLFN11	91607	broad.mit.edu	37	17	33690076	33690076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:33690076C>T	ENST00000394566.1	-	4	1023	c.751G>A	c.(751-753)Gat>Aat	p.D251N	SLFN11_ENST00000308377.4_Missense_Mutation_p.D251N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	251						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTTATCATCCACTCCAATA	0.393000													79	15					0	0	0.003610	0	0
GUSBP3	653188	broad.mit.edu	37	5	68902950	68902950	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:68902950G>A	ENST00000510264.2	+	0	25																											TCCTACTAAAGGACGGACAGA	0.398000													28	70					0	0	0.003610	0	0
C1orf131	128061	broad.mit.edu	37	1	231374694	231374694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:231374694G>A	ENST00000318906.2	-	2	387	c.359C>T	c.(358-360)tCc>tTc	p.S120F	C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000366649.2_Missense_Mutation_p.S120F|C1orf131_ENST00000366651.3_Missense_Mutation_p.S120F			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	120										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTTCTTTAGGGAAGAGGGAGG	0.448000													45	27					0	0	0.003610	0	0
VPREB1	7441	broad.mit.edu	37	22	22599544	22599544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:22599544G>A	ENST00000403807.3	+	2	372	c.233G>A	c.(232-234)aGc>aAc	p.S78N	VPREB1_ENST00000302273.2_Missense_Mutation_p.S77N			P12018	VPREB_HUMAN	pre-B lymphocyte 1	78	Complementarity-determining-2.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		TCAGACAAGAGCCAGGGCCCC	0.582000													31	44					0	0	0.002836	0	0
EMB	133418	broad.mit.edu	37	5	49706728	49706728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:49706728C>T	ENST00000303221.5	-	4	670	c.455G>A	c.(454-456)gGa>gAa	p.G152E	EMB_ENST00000508934.1_Missense_Mutation_p.G98E|EMB_ENST00000514111.1_Missense_Mutation_p.G102E|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	152	Ig-like V-type 1.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				ATTAAATGTTCCCCTTTGTTC	0.279000													13	8					0	0	0.001855	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364647	142364647	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142364647C>T	ENST00000390397.2	+	0	318																											CTAAATTCTCCCTGTCCCTAG	0.473000													55	6					0	0	0.003610	0	0
PARP1	142	broad.mit.edu	37	1	226555974	226555974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:226555974G>A	ENST00000366794.5	-	16	2346	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	735	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GTGTAAAAGCGATTTGAGAGA	0.567000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					19	32					0	0	0.002780	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33412331	33412331	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33412331C>T	ENST00000418600.2	+	16	3620	c.3519C>T	c.(3517-3519)atC>atT	p.I1173I	SYNGAP1_ENST00000293748.5_Silent_p.I1173I|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Silent_p.I1114I	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1173					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTGCCCACATCGAGCGGGAAG	0.567000													5	14					0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	38991498	38991498	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:38991498C>T	ENST00000355481.4	+	47	7613	c.7482C>T	c.(7480-7482)ttC>ttT	p.F2494F	RYR1_ENST00000359596.3_Silent_p.F2494F|RYR1_ENST00000360985.3_Silent_p.F2494F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2494	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGCATCCTTCGTGCCGGACC	0.637000													11	19					0	0	0.001368	0	0
DNAH3	55567	broad.mit.edu	37	16	20981148	20981148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:20981148C>T	ENST00000261383.3	-	52	8423	c.8424G>A	c.(8422-8424)atG>atA	p.M2808I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2808	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTCTGGCTTCATCCCTTTCA	0.607000													47	60					0	0	0.003610	0	0
LRRC71	149499	broad.mit.edu	37	1	156902313	156902313	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156902313G>A	ENST00000337428.7	+	14	1693	c.1539G>A	c.(1537-1539)gtG>gtA	p.V513V	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	513										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AGGGTCCAGTGGGGCTGCTGT	0.597000													20	50					0	0	0.001216	0	0
IGHG3	3502	broad.mit.edu	37	14	106235852	106235852	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:106235852C>T	ENST00000390551.2	-	0	854																											GTCATCTCCTCCCGGGATGGG	0.642000													83	32					0	0	0.003610	0	0
SPAG17	200162	broad.mit.edu	37	1	118609430	118609430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:118609430C>T	ENST00000336338.5	-	18	2543	c.2478G>A	c.(2476-2478)atG>atA	p.M826I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	826						cilium|flagellar axoneme|microtubule		p.M826I(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTTGTCTATTCATTGGATTGT	0.358000													34	45					0	0	0.003271	0	0
PCDH17	27253	broad.mit.edu	37	13	58299275	58299275	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:58299275G>A	ENST00000377918.3	+	4	3353	c.3327G>A	c.(3325-3327)cgG>cgA	p.R1109R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1109					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R1109R(1)		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)		GAGCCAGCCGGGATTCCAGTG	0.522000													55	81					0	0	0.003610	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389501	150389501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150389501C>T	ENST00000223293.5	+	3	221	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	43						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAACAGCATCCTCAGGAAGCA	0.493000													35	3					0	0	0.003271	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403526	69403526	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69403526G>A	ENST00000317746.2	-	6	1452	c.1410C>T	c.(1408-1410)cgC>cgT	p.R470R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	470					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CTCCTTTATGGCGCATGACAA	0.488000													50	15					0	0	0.003610	0	0
METAP2	10988	broad.mit.edu	37	12	95879672	95879672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:95879672C>T	ENST00000323666.5	+	4	572	c.343C>T	c.(343-345)Cct>Tct	p.P115S	METAP2_ENST00000261220.9_Missense_Mutation_p.P92S|METAP2_ENST00000550777.1_Missense_Mutation_p.P79S|METAP2_ENST00000551840.1_Missense_Mutation_p.P114S|METAP2_ENST00000546753.1_Intron	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	115					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	TCAAACAGACCCTCCCTCAGT	0.368000													65	111					0	0	0.003610	0	0
PSMD3	5709	broad.mit.edu	37	17	38142926	38142926	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38142926C>T	ENST00000264639.4	+	3	684	c.510C>T	c.(508-510)ctC>ctT	p.L170L	PSMD3_ENST00000541736.1_Silent_p.L32L	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	170					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCCAACTCCTCGTGGTCATCT	0.552000													79	20					0	0	0.003610	0	0
CFTR	1080	broad.mit.edu	37	7	117230453	117230453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:117230453G>A	ENST00000003084.6	+	13	1858	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R	CFTR_ENST00000454343.1_Missense_Mutation_p.G515R	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	576	ABC transporter 1.		G -> A (in dbSNP:rs1800098).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTCTCCTTTTGGATACCTAGA	0.289000									Cystic Fibrosis				83	82					0	0	0.003610	0	0
CASS4	57091	broad.mit.edu	37	20	55027236	55027236	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:55027236T>A	ENST00000371336.3	+	5	1205	c.1004T>A	c.(1003-1005)tTt>tAt	p.F335Y	CASS4_ENST00000360314.3_Missense_Mutation_p.F335Y|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	335					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CCTTCAAGCTTTCTGATTCCC	0.453000													30	68					0	0	0.002096	0	0
LPHN2	23266	broad.mit.edu	37	1	82433841	82433841	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:82433841C>T	ENST00000370728.1	+	16	3114	c.2469C>T	c.(2467-2469)caC>caT	p.H823H	LPHN2_ENST00000370721.1_Silent_p.H748H|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000359929.3_Silent_p.H810H|LPHN2_ENST00000335786.5_Silent_p.H823H|LPHN2_ENST00000370727.1_Silent_p.H823H|LPHN2_ENST00000370715.1_Silent_p.H810H|LPHN2_ENST00000394879.1_Silent_p.H810H|LPHN2_ENST00000370725.1_Silent_p.H823H|LPHN2_ENST00000370713.1_Silent_p.H810H|LPHN2_ENST00000370717.2_Silent_p.H823H|LPHN2_ENST00000370723.1_Silent_p.H810H|LPHN2_ENST00000271029.4_Silent_p.H823H|LPHN2_ENST00000319517.6_Silent_p.H810H|LPHN2_ENST00000370730.1_Silent_p.H823H			O95490	LPHN2_HUMAN	latrophilin 2	823	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CATGCAGCCACCTAACCAATT	0.428000													25	32					0	0	0.005443	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996397	140996397	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:140996397C>T	ENST00000285879.4	+	4	3493	c.3207C>T	c.(3205-3207)ttC>ttT	p.F1069F	MAGEC1_ENST00000406005.2_Silent_p.F136F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1069	MAGE.						protein binding	p.F1069F(1)		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)					GTTACGAATTCCTGTGGGGTC	0.488000										HNSCC(15;0.026)			53	6					0	0	0.003610	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389737	150389737	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150389737G>A	ENST00000223293.5	+	3	457	c.363G>A	c.(361-363)caG>caA	p.Q121Q		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	121						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATACCTCACAGGACCAGCAGG	0.552000													10	31					0	0	0.000978	0	0
AKAP9	10142	broad.mit.edu	37	7	91731944	91731944	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:91731944C>T	ENST00000359028.2	+	46	11371	c.11146C>T	c.(11146-11148)Cga>Tga	p.R3716*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R3662*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3712*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3716					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAAGTTTTCGAAAGGCTCT	0.453000			T	BRAF	papillary thyroid								17	66					0	0	0.006122	0	0
UTRN	7402	broad.mit.edu	37	6	144774947	144774947	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:144774947C>T	ENST00000367545.3	+	18	2226	c.2226C>T	c.(2224-2226)atC>atT	p.I742I		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	742	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAGAAAGAATCCCCAGAGCAG	0.348000													35	53					0	0	0.001287	0	0
USP19	10869	broad.mit.edu	37	3	49150050	49150050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49150050G>A	ENST00000453664.1	-	18	2800	c.2482C>T	c.(2482-2484)Cgt>Tgt	p.R828C	USP19_ENST00000398896.1_Missense_Mutation_p.R545C|USP19_ENST00000417901.1_Missense_Mutation_p.R840C|USP19_ENST00000398892.3_Missense_Mutation_p.R777C|USP19_ENST00000434032.2_Missense_Mutation_p.R838C|USP19_ENST00000398898.2_Missense_Mutation_p.R777C|USP19_ENST00000398888.2_Missense_Mutation_p.R737C	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	737					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGATGAAAACGATTCTTAATT	0.522000													9	25					0	0	0.000978	0	0
GLIS1	148979	broad.mit.edu	37	1	53980412	53980412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:53980412G>A	ENST00000312233.2	-	7	1810	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	415					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CAGGAGGCCCGATGCAAGTCC	0.612000													19	24					0	0	0.001216	0	0
RASAL1	8437	broad.mit.edu	37	12	113552637	113552637	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:113552637C>T	ENST00000546530.1	-	13	1434	c.1149G>A	c.(1147-1149)ctG>ctA	p.L383L	RASAL1_ENST00000548055.1_Silent_p.L383L|RASAL1_ENST00000261729.5_Silent_p.L383L|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.L383L	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	383	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGCAGGGATCCAGCTCCATGT	0.637000													64	146					0	0	0.003610	0	0
SGSM2	9905	broad.mit.edu	37	17	2264969	2264969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:2264969C>T	ENST00000268989.3	+	3	349	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	SGSM2_ENST00000426855.2_Missense_Mutation_p.R58C|SGSM2_ENST00000574563.1_Missense_Mutation_p.R58C	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	58	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GCTGAGACGCCGTGCCGCTGG	0.602000													23	3					0	0	0.002780	0	0
REN	5972	broad.mit.edu	37	1	204129755	204129755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:204129755C>T	ENST00000367195.2	-	4	468	c.425G>A	c.(424-426)gGa>gAa	p.G142E	REN_ENST00000272190.8_Missense_Mutation_p.G142E			P00797	RENI_HUMAN	renin	142					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GAGTTCTGTTCCATTGTGCTT	0.562000													42	44					0	0	0.002222	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279185	105279185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:105279185G>A	ENST00000327674.4	-	2	1149	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.P272S			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	272					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCTCCTTGGGAAGAACAAAG	0.458000													49	8					0	0	0.003610	0	0
AGGF1	55109	broad.mit.edu	37	5	76357579	76357579	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:76357579G>A	ENST00000312916.7	+	13	2278	c.1896G>A	c.(1894-1896)tgG>tgA	p.W632*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	632	G-patch.				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AGATGGGTTGGAAGAAAGGAG	0.378000													157	78					0	0	0.003610	0	0
POLR3B	55703	broad.mit.edu	37	12	106804625	106804625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:106804625G>A	ENST00000228347.4	+	12	1210	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.A272T	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	330					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CAATTTCCGAGCCAAATGTAT	0.353000													15	28					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179398114	179398114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179398114C>T	ENST00000589042.1	-	358	103452	c.103228G>A	c.(103228-103230)Gaa>Aaa	p.E34410K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25345K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32769K|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25470K|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31842K|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25537K|TTN-AS1_ENST00000588716.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32769							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)			TGGATAATTTCAATGTTAGGC	0.478000													21	55					0	0	0.001882	0	0
MYO3A	53904	broad.mit.edu	37	10	26459364	26459364	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:26459364C>T	ENST00000265944.5	+	29	3460	c.3294C>T	c.(3292-3294)gtC>gtT	p.V1098V	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1098	IQ 2.				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						GACACCTTGTCAGGAAACAAA	0.323000													11	17					0	0	0.000978	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549427	58549427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58549427G>A	ENST00000282326.1	+	3	470	c.223G>A	c.(223-225)Gag>Aag	p.E75K	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.E75K|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.E75K	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	75	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCGCTCCAAGGAGCAGATGCT	0.706000													8	10					0	0	0.000443	0	0
LIPF	8513	broad.mit.edu	37	10	90438260	90438260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:90438260G>A	ENST00000394375.3	+	11	1162	c.1049G>A	c.(1048-1050)gGt>gAt	p.G350D	LIPF_ENST00000355843.2_Missense_Mutation_p.G307D|LIPF_ENST00000238983.4_Missense_Mutation_p.G340D|LIPF_ENST00000496797.1_3'UTR	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	340					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GTGTGGAACGGTGGCAAGGAC	0.448000													37	76					0	0	0.005524	0	0
NPAS4	266743	broad.mit.edu	37	11	66190194	66190194	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:66190194G>A	ENST00000311034.2	+	4	656	c.480G>A	c.(478-480)caG>caA	p.Q160Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	160					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCAGGCGCCAGAGTGCAGGCA	0.547000													24	27					0	0	0.003954	0	0
DNMBP	23268	broad.mit.edu	37	10	101640083	101640083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:101640083G>A	ENST00000342239.3	-	16	4196	c.4105C>T	c.(4105-4107)Ccc>Tcc	p.P1369S	DNMBP_ENST00000324109.4_Missense_Mutation_p.P1345S|DNMBP_ENST00000540316.1_Missense_Mutation_p.P281S|DNMBP_ENST00000543621.1_Missense_Mutation_p.P591S			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1345	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGATTGTAGGGCTTTAGGAAA	0.547000													18	15					0	0	0.001216	0	0
RREB1	6239	broad.mit.edu	37	6	7231086	7231086	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:7231086C>T	ENST00000379938.2	+	10	3291	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	RREB1_ENST00000334984.6_Silent_p.S918S|RREB1_ENST00000349384.6_Silent_p.S918S|RREB1_ENST00000379933.3_Silent_p.S918S	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	918					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.S918S(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AAAACATCTCCTTTCTGAGCC	0.567000													15	26					0	0	0.002450	0	0
PAX2	5076	broad.mit.edu	37	10	102509623	102509623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:102509623C>T	ENST00000370296.2	+	2	714	c.164C>T	c.(163-165)tCc>tTc	p.S55F	PAX2_ENST00000428433.1_Missense_Mutation_p.S55F|PAX2_ENST00000355243.3_Missense_Mutation_p.S55F|PAX2_ENST00000556085.1_Missense_Mutation_p.S54F|PAX2_ENST00000361791.3_Missense_Mutation_p.S55F|PAX2_ENST00000553492.1_Intron			Q02962	PAX2_HUMAN	paired box 2	55	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGTGACATCTCCCGGCAGCTG	0.687000													14	8					0	0	0.004990	0	0
KRT75	9119	broad.mit.edu	37	12	52825840	52825840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52825840C>T	ENST00000252245.5	-	3	944	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	242	Coil 1B.|Rod.		E -> G (in dbSNP:rs2232393).			keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGTTAATTTCATCTTCGTAC	0.453000													10	22					0	0	0.000978	0	0
RALGAPB	57148	broad.mit.edu	37	20	37187061	37187061	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:37187061T>A	ENST00000262879.6	+	23	3780	c.3496T>A	c.(3496-3498)Ttc>Atc	p.F1166I	RALGAPB_ENST00000397040.1_Missense_Mutation_p.F1166I|RALGAPB_ENST00000397038.1_Missense_Mutation_p.F944I|RALGAPB_ENST00000397042.3_Missense_Mutation_p.F1162I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1166	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTTTTTATTTTCTATATGAA	0.353000													58	192					0	0	0.003610	0	0
SORL1	6653	broad.mit.edu	37	11	121490577	121490577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121490577C>T	ENST00000260197.7	+	43	5969	c.5840C>T	c.(5839-5841)tCc>tTc	p.S1947F	SORL1_ENST00000532694.1_Missense_Mutation_p.S793F|SORL1_ENST00000534286.1_Missense_Mutation_p.S857F|SORL1_ENST00000525532.1_Missense_Mutation_p.S891F|SORL1_ENST00000527934.1_Missense_Mutation_p.S562F	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1947	Fibronectin type-III 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGCAAAACCTCCGTGGTCATC	0.557000													27	47					0	0	0.001786	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812838	45812838	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:45812838G>A	ENST00000358525.4	-	6	921	c.806C>T	c.(805-807)tCc>tTc	p.S269F	SLC6A20_ENST00000456124.2_Missense_Mutation_p.S269F|SLC6A20_ENST00000353278.4_Missense_Mutation_p.S232F	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	269					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCAGTTGTTGGATGGCTCATT	0.552000													42	51					0	0	0.003610	0	0
MECOM	2122	broad.mit.edu	37	3	168802789	168802789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:168802789G>A	ENST00000464456.1	-	15	4237	c.3037C>T	c.(3037-3039)Cat>Tat	p.H1013Y	MECOM_ENST00000472280.1_Missense_Mutation_p.H1023Y|MECOM_ENST00000468789.1_Missense_Mutation_p.H1022Y|MECOM_ENST00000494292.1_Missense_Mutation_p.H1201Y|MECOM_ENST00000433243.2_Missense_Mutation_p.H1023Y|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000392736.3_Missense_Mutation_p.H1022Y|MECOM_ENST00000264674.3_Missense_Mutation_p.H1087Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATGTAGAATGGAGGGACTCC	0.473000													19	26					0	0	0.002299	0	0
TIGD7	91151	broad.mit.edu	37	16	3349419	3349419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3349419C>T	ENST00000396862.1	-	2	3024	c.1196G>A	c.(1195-1197)tGg>tAg	p.W399*	TIGD7_ENST00000268674.2_Nonsense_Mutation_p.W399*	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	399	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AAGATTTTCCCATGCATTTGC	0.313000													52	74					0	0	0.003610	0	0
TTC7A	57217	broad.mit.edu	37	2	47221612	47221612	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:47221612C>T	ENST00000319190.5	+	7	1328	c.960C>T	c.(958-960)gcC>gcT	p.A320A	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Silent_p.A320A|TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000409245.1_Silent_p.A286A	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	320							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTTCTTTCGCCACTCAGGCCC	0.597000													34	48					0	0	0.002836	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776180	77776180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77776180G>A	ENST00000521891.2	+	11	10678	c.10230G>A	c.(10228-10230)atG>atA	p.M3410I	ZFHX4_ENST00000518282.1_Missense_Mutation_p.M3384I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M3361I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M3365I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3361						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)			AGTGCCAGATGATGTTTACTG	0.423000										HNSCC(33;0.089)			7	15					0	0	0.001984	0	0
IGHG3	3502	broad.mit.edu	37	14	106235647	106235647	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:106235647G>A	ENST00000390551.2	-	0	1059																											CACGGAGCATGAGAAGATGTT	0.607000													79	15					0	0	0.003610	0	0
LILRB4	11006	broad.mit.edu	37	19	55177322	55177322	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55177322C>A	ENST00000391736.1	+	9	1129	c.814C>A	c.(814-816)Ctc>Atc	p.L272I	LILRB4_ENST00000430952.2_Missense_Mutation_p.L272I|LILRB4_ENST00000270452.2_Missense_Mutation_p.L272I|LILRB4_ENST00000391734.3_Missense_Mutation_p.L272I|LILRB4_ENST00000391733.3_Missense_Mutation_p.L272I	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	272						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CAtcctgcttctctccctcct	0.552000													13	9					0.000151284	0.000281903	0.001855	1	0
CDH5	1003	broad.mit.edu	37	16	66436692	66436692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:66436692G>A	ENST00000341529.3	+	12	2123	c.1975G>A	c.(1975-1977)Gat>Aat	p.D659N	CDH5_ENST00000539168.1_Missense_Mutation_p.D98N	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	659					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CACCAGCTACGATGTGTCGGT	0.716000													4	8					0	0	0.000248	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37478487	37478487	+	Splice_Site	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:37478487T>A	ENST00000374660.1	+	31	2800		c.e31+2		ANKRD30A_ENST00000475522.1_Splice_Site|ANKRD30A_ENST00000361713.1_Splice_Site|ANKRD30A_ENST00000602533.1_Splice_Site			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A							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						AATTAGAAGGTAAGAACCGTT	0.323000													36	74					0	0	0.001287	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661333	176661333	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176661333C>T	ENST00000367662.3	+	6	3667	c.2503C>T	c.(2503-2505)Cag>Tag	p.Q835*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	835					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						CCTAGTCTATCAGCAGTGGAC	0.502000													56	52					0	0	0.003610	0	0
AATF	26574	broad.mit.edu	37	17	35345953	35345953	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:35345953C>T	ENST00000225402.5	+	6	1334	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	361	RB1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ACTTTACAGTCTACAGGAACC	0.498000													30	5					0	0	0.001786	0	0
NSMAF	8439	broad.mit.edu	37	8	59548091	59548091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:59548091G>A	ENST00000038176.3	-	3	376	c.164C>T	c.(163-165)tCc>tTc	p.S55F	NSMAF_ENST00000427130.2_Missense_Mutation_p.S86F	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	55					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TATTTTTAAGGAGCCTCTGAT	0.323000													55	151					0	0	0.003610	0	0
OR5D13	390142	broad.mit.edu	37	11	55541597	55541597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55541597G>A	ENST00000361760.1	+	1	684	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTACCATTATGAAGATGCGAT	0.418000													37	44					0	0	0.003755	0	0
RGPD3	653489	broad.mit.edu	37	2	107041161	107041161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:107041161G>A	ENST00000409886.3	-	20	3349	c.3262C>T	c.(3262-3264)Ctc>Ttc	p.L1088F	RGPD3_ENST00000304514.7_Missense_Mutation_p.L1088F	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1088	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCGTTTTTGAGAATTTTTAAG	0.378000													141	195					0	0	0.003610	0	0
PSG2	5670	broad.mit.edu	37	19	43579757	43579757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43579757C>T	ENST00000406487.1	-	3	556	c.458G>A	c.(457-459)aGc>aAc	p.S153N		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	153	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TAAGTTGCTGCTGGAGATGGA	0.507000													75	80					0	0	0.003610	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871842	51871842	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:51871842G>A	ENST00000371497.5	+	2	2732	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	TSHZ2_ENST00000603338.2_Silent_p.G612G|TSHZ2_ENST00000329613.6_Silent_p.G612G	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	615					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGGAGTGTGGGAAAGAAAGTC	0.507000													73	39					0	0	0.003610	0	0
WFDC2	10406	broad.mit.edu	37	20	44098461	44098461	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44098461C>T	ENST00000372676.3	+	1	116	c.40C>T	c.(40-42)Ctc>Ttc	p.L14F	AL031663.1_ENST00000599747.1_Intron|WFDC2_ENST00000217425.5_Missense_Mutation_p.L14F|WFDC2_ENST00000339946.3_Missense_Mutation_p.L14F	NM_006103.3	NP_006094.3	Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	14					proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				CGCCGCCCTCCTCCTCAGCCT	0.692000													14	6					0	0	0.003163	0	0
DYSF	8291	broad.mit.edu	37	2	71825770	71825770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71825770G>A	ENST00000258104.3	+	33	3874	c.3597G>A	c.(3595-3597)tgG>tgA	p.W1199*	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W1199*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W1216*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.W1231*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W1230*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W1217*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W1186*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W1217*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W1216*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W1200*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W1200*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1199	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.W1199C(1)		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						ACCCCACCTGGGACCAGACGC	0.592000													22	32					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	9057747	9057747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9057747C>T	ENST00000397910.4	-	3	29902	c.29699G>A	c.(29698-29700)gGa>gAa	p.G9900E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9902	Ser-rich.|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						AGTGGGCACTCCATAAAGGAC	0.468000													41	81					0	0	0.003214	0	0
OR52E6	390078	broad.mit.edu	37	11	5862851	5862851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5862851C>T	ENST00000329322.5	-	1	276	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.E97K	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGATATTTCCTTGATATTG	0.473000													54	72					0	0	0.003610	0	0
FBXW7	55294	broad.mit.edu	37	4	153253840	153253840	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:153253840G>A	ENST00000281708.4	-	6	2122	c.893C>T	c.(892-894)cCc>cTc	p.P298L	FBXW7_ENST00000603548.1_Missense_Mutation_p.P298L|FBXW7_ENST00000296555.5_Missense_Mutation_p.P180L|FBXW7_ENST00000603841.1_Missense_Mutation_p.P298L|FBXW7_ENST00000263981.5_Missense_Mutation_p.P218L|FBXW7_ENST00000393956.3_Missense_Mutation_p.P122L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	298	F-box.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.P298R(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CAGGTCTTTGGGTTCCAGGAA	0.348000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								17	31					0	0	0.001216	0	0
EXT2	2132	broad.mit.edu	37	11	44219521	44219521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:44219521C>T	ENST00000395673.3	+	9	1603	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	EXT2_ENST00000533608.1_Missense_Mutation_p.S483F|EXT2_ENST00000343631.3_Missense_Mutation_p.S483F|EXT2_ENST00000358681.4_Missense_Mutation_p.S493F	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	483					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCAGTCTATCCAAACTACTT	0.488000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				19	47					0	0	0.002780	0	0
CFAP54	144535	broad.mit.edu	37	12	97084957	97084957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:97084957C>T	ENST00000524981.3	+	11	1486	c.1486C>T	c.(1486-1488)Caa>Taa	p.Q496*				Q6ZTY8	CL063_HUMAN		470										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTGCTATGCTCAATATGAAAT	0.373000													39	59					0	0	0.002522	0	0
SULF2	55959	broad.mit.edu	37	20	46318973	46318973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:46318973G>A	ENST00000359930.4	-	5	1485	c.634C>T	c.(634-636)Ccg>Tcg	p.P212S	SULF2_ENST00000361612.4_Missense_Mutation_p.P212S|SULF2_ENST00000484875.1_Missense_Mutation_p.P212S|SULF2_ENST00000467815.1_Missense_Mutation_p.P212S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	212					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GGCCTGTGCGGGTACATCTTC	0.577000													10	56					0	0	0.000443	0	0
USP43	124739	broad.mit.edu	37	17	9631820	9631820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:9631820G>A	ENST00000570827.2	+	15	3026	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E	USP43_ENST00000570475.1_Missense_Mutation_p.G957E|USP43_ENST00000285199.6_Missense_Mutation_p.G962E			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	962					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TTCCAGATGGGAAGCAAAAGC	0.567000													11	2					0	0	0.000673	0	0
PTPN9	5780	broad.mit.edu	37	15	75816585	75816585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75816585G>A	ENST00000306726.2	-	3	774	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	88	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTCAGAACGAAGAGGTTCC	0.388000													34	49					0	0	0.002522	0	0
ZNF7	7553	broad.mit.edu	37	8	146068344	146068344	+	Missense_Mutation	SNP	G	G	A	rs67781484		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:146068344G>A	ENST00000528372.1	+	5	2092	c.1852G>A	c.(1852-1854)Ggg>Agg	p.G618R	ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.G522R|ZNF7_ENST00000325241.6_Missense_Mutation_p.G618R|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.G629R			P17097	ZNF7_HUMAN	zinc finger protein 7	618					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TGCCCTGGAAGGGTCCACCTT	0.433000													27	52					0	0	0.004656	0	0
ARAP2	116984	broad.mit.edu	37	4	36214091	36214091	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:36214091C>T	ENST00000303965.4	-	5	1549	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	354					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.E354K(1)		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						GTCAAAAATTCATTCTTTATA	0.338000													9	20					0	0	0.000978	0	0
FAM129C	199786	broad.mit.edu	37	19	17654183	17654183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17654183G>A	ENST00000335393.4	+	12	1618	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	FAM129C_ENST00000300971.2_Missense_Mutation_p.A494T|FAM129C_ENST00000601861.1_Missense_Mutation_p.A463T|FAM129C_ENST00000352727.3_Missense_Mutation_p.A494T|FAM129C_ENST00000595684.1_Missense_Mutation_p.A494T|FAM129C_ENST00000332386.5_Missense_Mutation_p.A494T|FAM129C_ENST00000599124.1_Missense_Mutation_p.A463T|FAM129C_ENST00000449408.2_Missense_Mutation_p.A220T|FAM129C_ENST00000599164.1_Missense_Mutation_p.A463T|FAM129C_ENST00000600871.1_Missense_Mutation_p.A440T	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	494										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TCTGACGACGGCCCTCAACTG	0.632000													44	78					0	0	0.003214	0	0
C17orf53	78995	broad.mit.edu	37	17	42232019	42232019	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:42232019C>T	ENST00000319977.4	+	6	1785	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	C17orf53_ENST00000585683.1_Silent_p.F515F|C17orf53_ENST00000245382.6_Silent_p.F440F	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	516										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTGTGGTTTTCAAGGACCCCA	0.552000													51	12					0	0	0.003610	0	0
EPG5	57724	broad.mit.edu	37	18	43497687	43497687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:43497687G>A	ENST00000282041.5	-	17	3230	c.3196C>T	c.(3196-3198)Cct>Tct	p.P1066S		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1066					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TAAAATAAAGGCAGAATCTTA	0.423000													41	57					0	0	0.002222	0	0
MUC2	4583	broad.mit.edu	37	11	1095808	1095808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1095808G>A	ENST00000441003.2	+	33	6346	c.6319G>A	c.(6319-6321)Gac>Aac	p.D2107N	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.D245N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4469						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGAGGACCCCGACGGCTGCTG	0.697000													6	4					0	0	0.000443	0	0
TARBP1	6894	broad.mit.edu	37	1	234569190	234569190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:234569190G>A	ENST00000040877.1	-	14	2359	c.2360C>T	c.(2359-2361)tCc>tTc	p.S787F		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	787					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ATGCTGAATGGATGCATTTTT	0.388000													36	29					0	0	0.005524	0	0
FRAS1	80144	broad.mit.edu	37	4	79367949	79367949	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:79367949G>A	ENST00000264895.6	+	43	6365	c.5925G>A	c.(5923-5925)gtG>gtA	p.V1975V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1974					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGGGAGTGGTGATAAGCAATT	0.483000													9	15					0	0	0.000673	0	0
C7orf62	219557	broad.mit.edu	37	7	88424228	88424228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:88424228C>T	ENST00000297203.2	-	2	214	c.29G>A	c.(28-30)gGc>gAc	p.G10D	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	10										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						CCTTTTGCTGCCCTTCTGGTT	0.423000													96	81					0	0	0.003610	0	0
EBF3	253738	broad.mit.edu	37	10	131755539	131755539	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:131755539G>A	ENST00000368648.3	-	6	609	c.537C>T	c.(535-537)gaC>gaT	p.D179D	EBF3_ENST00000355311.5_Silent_p.D179D	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	179					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGATTACAGGGTCTGAGGGCG	0.418000													23	34					0	0	0.001061	0	0
FAM71C	196472	broad.mit.edu	37	12	100042316	100042316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:100042316C>T	ENST00000324341.1	+	1	786	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	122										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CAGGCTGCTTCCCTTGATGTT	0.517000													24	46					0	0	0.003330	0	0
EMP1	2012	broad.mit.edu	37	12	13366658	13366658	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:13366658C>T	ENST00000256951.5	+	4	418	c.219C>T	c.(217-219)atC>atT	p.I73I	EMP1_ENST00000431267.2_Silent_p.I6I|EMP1_ENST00000544053.1_Silent_p.I6I|EMP1_ENST00000396301.3_Silent_p.I73I|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000537612.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	73					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCTCTATCATCTTCTGTGTCA	0.537000													52	80					0	0	0.003610	0	0
SMC1B	27127	broad.mit.edu	37	22	45749993	45749993	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:45749993C>T	ENST00000357450.4	-	21	3137	c.3138G>A	c.(3136-3138)aaG>aaA	p.K1046K	SMC1B_ENST00000404354.3_Silent_p.K1046K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1046					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTCTGGCTTCCTTTCTGCTGG	0.368000													55	70					0	0	0.003610	0	0
VIP	7432	broad.mit.edu	37	6	153073395	153073395	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:153073395T>C	ENST00000367244.3	+	2	255	c.83T>C	c.(82-84)cTt>cCt	p.L28P	VIP_ENST00000367243.3_Missense_Mutation_p.L28P	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	28					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GCATGGCCTCTTTACAGGGCA	0.453000													20	34					0	0	0.003954	0	0
POTEF	728378	broad.mit.edu	37	2	130877705	130877705	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:130877705G>A	ENST00000357462.5	-	1	477	c.384C>T	c.(382-384)ttC>ttT	p.F128F	POTEF_ENST00000361163.4_Silent_p.F128F|POTEF_ENST00000409914.2_Silent_p.F128F|POTEF_ENST00000360967.5_Silent_p.F128F			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	128						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGGGCTCCATGAAGGCACTGT	0.587000													18	25					0	0	0.003954	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27887052	27887052	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:27887052C>G	ENST00000326019.6	+	1	715	c.433C>G	c.(433-435)Cct>Gct	p.P145A		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	145						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GGTTTCTTCCCCTGGCGGTCC	0.652000													12	24					0	0	0.002450	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33017472	33017472	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:33017472G>T	ENST00000357505.6	-	7	1261	c.1157C>A	c.(1156-1158)cCa>cAa	p.P386Q	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P401Q|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P386Q	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATCTTTCTTTGGTCTCTGTTC	0.453000													8	128					0.00448238	0.00831004	0.004482	1	0
ADAM18	8749	broad.mit.edu	37	8	39468050	39468050	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:39468050G>A	ENST00000265707.5	+	6	392	c.347G>A	c.(346-348)gGa>gAa	p.G116E	ADAM18_ENST00000379866.1_Missense_Mutation_p.G116E|ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000520772.1_Missense_Mutation_p.G116E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	116					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			ATTTTCAGGGGATTTCTCCAG	0.269000													28	5					0	0	0.001271	0	0
PCDH18	54510	broad.mit.edu	37	4	138451044	138451044	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:138451044G>A	ENST00000344876.4	-	1	2585	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.S513S|PCDH18_ENST00000412923.2_Silent_p.S733S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	733					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCAGTTATAGGATCTAGTGT	0.443000													18	36					0	0	0.001216	0	0
CIB2	10518	broad.mit.edu	37	15	78416051	78416051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:78416051G>A	ENST00000258930.3	-	2	410	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	CIB2_ENST00000557846.1_Intron|CIB2_ENST00000560618.1_Intron|CIB2_ENST00000539011.1_Intron	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	28							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						ACTTACTTGAGGATGTCCTTC	0.577000													17	27					0	0	0.000958	0	0
GPR179	440435	broad.mit.edu	37	17	36486905	36486905	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:36486905C>T	ENST00000342292.4	-	11	2567	c.2547G>A	c.(2545-2547)aaG>aaA	p.K849K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	849						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGAGCAAGGCCTTTTCCCTGG	0.662000													22	3					0	0	0.003954	0	0
ANO7	50636	broad.mit.edu	37	2	242152025	242152025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:242152025G>A	ENST00000274979.8	+	17	1977	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E	ANO7_ENST00000402430.3_Missense_Mutation_p.G624E	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	625						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ACCTTGTTTGGAGTCCGCAAT	0.532000													10	13					0	0	0.001368	0	0
BRD2	6046	broad.mit.edu	37	6	32944138	32944138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32944138C>T	ENST00000395289.2	+	6	2323	c.722C>T	c.(721-723)cCc>cTc	p.P241L	BRD2_ENST00000443797.2_Missense_Mutation_p.P121L|BRD2_ENST00000449085.2_Missense_Mutation_p.P194L|BRD2_ENST00000395287.1_Missense_Mutation_p.P241L|BRD2_ENST00000374831.4_Missense_Mutation_p.P241L|BRD2_ENST00000374825.4_Missense_Mutation_p.P241L			P25440	BRD2_HUMAN	bromodomain containing 2	241					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTCAACATTCCCCACCCATCA	0.567000													20	31					0	0	0.001882	0	0
DNAH17	8632	broad.mit.edu	37	17	76563248	76563248	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:76563248C>T	ENST00000389840.5	-	10	1409	c.1284_splice	c.e10-1	p.E429_splice	DNAH17_ENST00000585328.1_Splice_Site_p.E429_splice					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTATAGAGTTCCTAGTGGAGG	0.517000													5	2					0	0	0.000602	0	0
TAF1L	138474	broad.mit.edu	37	9	32631735	32631735	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:32631735C>T	ENST00000242310.4	-	1	3932	c.3843G>A	c.(3841-3843)ctG>ctA	p.L1281L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1281					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCCCACATTTCAGTTTTAGGT	0.473000													55	18					0	0	0.003610	0	0
JAK2	3717	broad.mit.edu	37	9	5069174	5069174	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:5069174C>T	ENST00000381652.3	+	11	1973	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	JAK2_ENST00000544510.1_Silent_p.F344F|JAK2_ENST00000539801.1_Silent_p.F493F	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	493					actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ATATAATTTTCCAGTTTACTA	0.353000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				20	10					0	0	0.002780	0	0
PIPSL	266971	broad.mit.edu	37	10	95719245	95719245	+	RNA	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95719245T>A	ENST00000480546.1	-	0	2052					NR_002319.2																						GCTGTCAGCTTTTCTGTGTTC	0.458000													14	22					0	0	0.002450	0	0
BAI2	576	broad.mit.edu	37	1	32193118	32193118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:32193118G>A	ENST00000373658.3	-	33	5002	c.4661C>T	c.(4660-4662)tCg>tTg	p.S1554L	BAI2_ENST00000398556.3_Missense_Mutation_p.S1469L|BAI2_ENST00000373655.2_Missense_Mutation_p.S1553L|BAI2_ENST00000398542.1_Missense_Mutation_p.S1435L|BAI2_ENST00000257070.4_Missense_Mutation_p.S1520L|BAI2_ENST00000527361.1_Missense_Mutation_p.S1520L|BAI2_ENST00000398538.1_Missense_Mutation_p.S1523L|BAI2_ENST00000440175.2_Missense_Mutation_p.S1144L|BAI2_ENST00000398547.1_Missense_Mutation_p.S1468L|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1554					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGGGGCAGCGAGCCCAGTGT	0.637000													9	18					0	0	0.000673	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310764	75310764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75310764G>A	ENST00000361900.6	+	7	608	c.401G>A	c.(400-402)tGg>tAg	p.W134*	SCAMP5_ENST00000562212.1_Nonsense_Mutation_p.W142*|SCAMP5_ENST00000545456.1_Nonsense_Mutation_p.W63*|SCAMP5_ENST00000425597.3_Nonsense_Mutation_p.W134*|SCAMP5_ENST00000568081.1_Nonsense_Mutation_p.W67*	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	134					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TGCAGCGGCTGGATTGCTACC	0.587000													41	56					0	0	0.002522	0	0
SAMD9	54809	broad.mit.edu	37	7	92731473	92731473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92731473G>A	ENST00000379958.2	-	3	4207	c.3938C>T	c.(3937-3939)tCa>tTa	p.S1313L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1313						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTGTTTTGTGATTCTTCTAA	0.383000													105	62					0	0	0.003610	0	0
TBC1D32	221322	broad.mit.edu	37	6	121600266	121600266	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:121600266C>T	ENST00000275159.6	-	15	1733		c.e15+1		TBC1D32_ENST00000398212.2_Splice_Site					TBC1 domain family, member 32																		ATAGCACATACCTTTCTTCAG	0.323000													25	35					0	0	0.004656	0	0
LALBA	3906	broad.mit.edu	37	12	48963728	48963728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:48963728C>T	ENST00000549817.1	-	1	121	c.76G>A	c.(76-78)Gag>Aag	p.E26K	LALBA_ENST00000301046.2_Missense_Mutation_p.E26K			P00709	LALBA_HUMAN	lactalbumin, alpha-	26					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TGGGACAGCTCACATTTTGTG	0.498000													16	24					0	0	0.006122	0	0
TECTA	7007	broad.mit.edu	37	11	120999045	120999045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:120999045G>A	ENST00000392793.1	+	9	2630	c.2359G>A	c.(2359-2361)Gaa>Aaa	p.E787K	TECTA_ENST00000264037.2_Missense_Mutation_p.E787K			O75443	TECTA_HUMAN	tectorin alpha	787	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGGGGCTTCGGAAGTCAAGGT	0.592000													9	18					0	0	0.000443	0	0
PPT1	5538	broad.mit.edu	37	1	40557021	40557021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:40557021G>A	ENST00000433473.3	-	4	877	c.413C>T	c.(412-414)tCg>tTg	p.S138L	PPT1_ENST00000449045.2_Intron	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	138					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCCCAACCGAGATCAGATT	0.428000													18	13					0	0	0.001882	0	0
EFNB2	1948	broad.mit.edu	37	13	107145751	107145751	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:107145751G>A	ENST00000245323.4	-	5	788	c.639C>T	c.(637-639)gcC>gcT	p.A213A		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	213					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGAATGTCCGGCGCTGTTGC	0.527000													27	10					0	0	0.001512	0	0
GRIK3	2899	broad.mit.edu	37	1	37267565	37267565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:37267565G>A	ENST00000373091.3	-	16	2663	c.2647C>T	c.(2647-2649)Ccc>Tcc	p.P883S		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	883					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ACCATCATGGGAGGCTGAGGC	0.597000													24	25					0	0	0.002780	0	0
LMO3	55885	broad.mit.edu	37	12	16704197	16704197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:16704197C>T	ENST00000320122.6	-	4	919	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	LMO3_ENST00000261169.6_Missense_Mutation_p.E144K|LMO3_ENST00000541295.1_Missense_Mutation_p.E151K|LMO3_ENST00000540848.1_Missense_Mutation_p.E133K|LMO3_ENST00000354662.1_Missense_Mutation_p.E133K|LMO3_ENST00000537304.1_Missense_Mutation_p.E133K|LMO3_ENST00000535535.1_Missense_Mutation_p.E133K|LMO3_ENST00000540445.1_Missense_Mutation_p.E155K|LMO3_ENST00000534946.1_Missense_Mutation_p.E133K|LMO3_ENST00000441439.2_Missense_Mutation_p.E133K|LMO3_ENST00000447609.1_Missense_Mutation_p.E133K|LMO3_ENST00000541846.1_Missense_Mutation_p.E133K	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	133	LIM zinc-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				ATTAAACCTTCCTCGTAGTCC	0.348000													22	57					0	0	0.005443	0	0
SLC5A11	115584	broad.mit.edu	37	16	24873930	24873930	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:24873930G>A	ENST00000347898.3	+	3	766	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SLC5A11_ENST00000424767.2_Silent_p.V48V|SLC5A11_ENST00000545376.1_Silent_p.V48V|SLC5A11_ENST00000449109.2_5'UTR|SLC5A11_ENST00000568579.1_Silent_p.V48V|SLC5A11_ENST00000567758.1_Silent_p.V48V|SLC5A11_ENST00000539472.1_5'UTR|SLC5A11_ENST00000569071.1_5'UTR|SLC5A11_ENST00000565769.1_5'UTR	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	48					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AGTCCACAGTGAAGACCAAAA	0.478000													11	38					0	0	0.001368	0	0
LRP1B	53353	broad.mit.edu	37	2	141459789	141459789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141459789G>A	ENST00000389484.3	-	39	7194	c.6223C>T	c.(6223-6225)Cgc>Tgc	p.R2075C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2075					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATCTCGCGATTCCCTCCA	0.403000										TSP Lung(27;0.18)			40	67					0	0	0.002852	0	0
SPPL3	121665	broad.mit.edu	37	12	121202836	121202836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121202836G>A	ENST00000353487.2	-	11	1624	c.1121C>T	c.(1120-1122)tCc>tTc	p.S374F		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	375						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTGGACTTGGAGTGGAAAGG	0.498000													21	26					0	0	0.003330	0	0
NLRP13	126204	broad.mit.edu	37	19	56424209	56424209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56424209C>T	ENST00000588751.1	-	5	998	c.974G>A	c.(973-975)aGc>aAc	p.S325N	NLRP13_ENST00000342929.3_Missense_Mutation_p.S325N			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	325	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCATCCAAGCTCTCAGAGCG	0.463000													33	56					0	0	0.002445	0	0
TRHDE	29953	broad.mit.edu	37	12	72680599	72680599	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:72680599G>A	ENST00000261180.4	+	2	1014	c.918G>A	c.(916-918)gtG>gtA	p.V306V		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	306					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATATGCCAGTGGAAACTTCCG	0.403000													48	75					0	0	0.003610	0	0
LRFN2	57497	broad.mit.edu	37	6	40400075	40400075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:40400075C>T	ENST00000338305.6	-	2	1320	c.778G>A	c.(778-780)Gat>Aat	p.D260N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	260	LRRCT.					cell junction|integral to membrane|postsynaptic membrane		p.D260Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCAGGTCATCGTCCCGCTCG	0.597000													17	18					0	0	0.004990	0	0
NRP1	8829	broad.mit.edu	37	10	33469267	33469267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:33469267C>T	ENST00000265371.4	-	18	3034	c.2509G>A	c.(2509-2511)Gga>Aga	p.G837R	NRP1_ENST00000374867.2_Missense_Mutation_p.G837R|NRP1_ENST00000395995.1_Missense_Mutation_p.G820R			O14786	NRP1_HUMAN	neuropilin 1	837					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCACCTTCTCCTTCACCTTCG	0.493000													43	70					0	0	0.003214	0	0
ATRNL1	26033	broad.mit.edu	37	10	117059554	117059554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:117059554C>T	ENST00000355044.3	+	16	2552	c.2426C>T	c.(2425-2427)cCt>cTt	p.P809L		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	809	C-type lectin.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AAAGTATCACCTTGGGTAGGC	0.383000													29	36					0	0	0.002445	0	0
DBF4B	80174	broad.mit.edu	37	17	42828063	42828063	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:42828063C>T	ENST00000315005.3	+	14	1428	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	430					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCACAACCCTCCTGCCGGCCT	0.617000													27	5					0	0	0.001061	0	0
ZNF254	9534	broad.mit.edu	37	19	24310636	24310636	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:24310636T>A	ENST00000357002.4	+	4	1949	c.1834T>A	c.(1834-1836)Ttc>Atc	p.F612I	ZNF254_ENST00000342944.6_Missense_Mutation_p.F527I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	612					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CAAAGCATTTTTCTGGTCCTC	0.383000													29	28					0	0	0.001271	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983931	51983931	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51983931C>T	ENST00000396477.4	+	2	418	c.397C>T	c.(397-399)Cta>Tta	p.L133L	CEACAM18_ENST00000451626.1_Silent_p.L194L	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	194						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTGGAGGTTCTAGGTGGGTT	0.527000													16	17					0	0	0.004007	0	0
TH	7054	broad.mit.edu	37	11	2189730	2189730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:2189730C>T	ENST00000381178.1	-	4	589	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	TH_ENST00000381175.1_Missense_Mutation_p.G187R|TH_ENST00000333684.5_Missense_Mutation_p.G164R|TH_ENST00000352909.3_Missense_Mutation_p.G160R	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	191					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCCTTGGGCCCCGCGGGGCTG	0.682000													6	13					0	0	0.001984	0	0
MYO15A	51168	broad.mit.edu	37	17	18042907	18042907	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:18042907C>T	ENST00000205890.5	+	19	5531	c.5193C>T	c.(5191-5193)ttC>ttT	p.F1731F	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1731	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGACCTGTTCGTACGGAGCC	0.637000													15	5					0	0	0.004007	0	0
CASZ1	54897	broad.mit.edu	37	1	10709446	10709446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:10709446C>T	ENST00000377022.3	-	14	3246	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.E977K	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	977					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCTCCGCTTCCGCCTTGATG	0.637000													5	12					0	0	0.000602	0	0
SMPD2	6610	broad.mit.edu	37	6	109763178	109763178	+	Splice_Site	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:109763178G>T	ENST00000258052.3	+	4	585	c.224_splice	c.e4-1	p.G76_splice		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	76					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GGCTTTCAGCGGAATCATTGG	0.493000													6	185					0.00198382	0.00368579	0.001984	1	0
MAP2	4133	broad.mit.edu	37	2	210570450	210570450	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:210570450C>T	ENST00000360351.4	+	11	5237	c.4732_splice	c.e11+1	p.T1577_splice	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Splice_Site_p.T1573_splice|MAP2_ENST00000199940.6_Splice_Site_p.T278_splice|MAP2_ENST00000392194.1_Splice_Site_p.T221_splice|MAP2_ENST00000361559.4_Splice_Site_p.T221_splice	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1577					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGCGGACCACCAGTAGGTTTA	0.368000													57	78					0	0	0.003610	0	0
FLT1	2321	broad.mit.edu	37	13	28877378	28877378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:28877378C>T	ENST00000282397.4	-	30	4194	c.3943G>A	c.(3943-3945)Gaa>Aaa	p.E1315K	FLT1_ENST00000543394.1_Missense_Mutation_p.E338K|FLT1_ENST00000540678.1_Missense_Mutation_p.E533K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1315					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATTTTCCTTTCCAGCTCAGCG	0.582000													26	35					0	0	0.003954	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226032	23226032	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:23226032G>A	ENST00000300061.2	+	12	1636		c.e12-1			NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit						excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GAATTTTGCAGGACAGACTTG	0.512000													21	25					0	0	0.002780	0	0
PLCL2	23228	broad.mit.edu	37	3	17052122	17052122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:17052122G>A	ENST00000418129.2	+	2	1371	c.906G>A	c.(904-906)atG>atA	p.M302I	PLCL2_ENST00000396755.2_Missense_Mutation_p.M302I|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.M302I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	428					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTCAGGATATGAAGCAACCTC	0.408000													61	80					0	0	0.003610	0	0
LY96	23643	broad.mit.edu	37	8	74922334	74922334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:74922334G>A	ENST00000284818.2	+	3	392	c.301G>A	c.(301-303)Gat>Aat	p.D101N	LY96_ENST00000518893.1_Missense_Mutation_p.D71N	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	101					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			ATCTGATGACGATTACTCTTT	0.313000													58	40					0	0	0.003610	0	0
DAB1	1600	broad.mit.edu	37	1	57611028	57611028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:57611028C>T	ENST00000371236.2	-	3	405	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	DAB1_ENST00000371230.1_Missense_Mutation_p.G48R|DAB1_ENST00000439789.2_Missense_Mutation_p.G48R|DAB1_ENST00000371234.4_Missense_Mutation_p.G48R|DAB1_ENST00000420954.2_Missense_Mutation_p.G48R|DAB1_ENST00000414851.2_Missense_Mutation_p.G48R|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.G48R			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	48	PID.				cell differentiation|nervous system development			p.G48W(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TCATCAATCCCGATCAATTTG	0.413000													27	37					0	0	0.001512	0	0
DIAPH3	81624	broad.mit.edu	37	13	60548485	60548485	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:60548485C>T	ENST00000400324.4	-	15	1871		c.e15+1		DIAPH3_ENST00000400320.1_Splice_Site|DIAPH3_ENST00000267215.4_Splice_Site|DIAPH3_ENST00000400330.1_Splice_Site|DIAPH3_ENST00000377908.2_Splice_Site|DIAPH3_ENST00000465066.1_Splice_Site|DIAPH3_ENST00000400319.1_Splice_Site	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3						actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TGGAATTTTACCTGAGACTTA	0.348000													25	56					0	0	0.005443	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432677	140432677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140432677C>T	ENST00000306549.3	+	1	1699	c.1622C>T	c.(1621-1623)tCa>tTa	p.S541L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		541	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTTCCTGTCACTGAGTAGC	0.468000													29	11					0	0	0.002096	0	0
WDR65	149465	broad.mit.edu	37	1	43675704	43675704	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43675704C>T	ENST00000528956.1	+	11	2192	c.2046C>T	c.(2044-2046)atC>atT	p.I682I	WDR65_ENST00000372492.4_Intron	NM_001167965.1|NM_152498.3	NP_001161437.1|NP_689711.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	0										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTTATTCATCCATCATTCAT	0.408000													21	47					0	0	0.002299	0	0
CLCA4	22802	broad.mit.edu	37	1	87045066	87045066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87045066G>A	ENST00000370563.3	+	13	2194	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	718						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)		GCCAAGACCTGAAATTGATGA	0.438000													30	46					0	0	0.005524	0	0
NRXN1	9378	broad.mit.edu	37	2	50724719	50724719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:50724719C>T	ENST00000404971.1	-	15	4090	c.2751G>A	c.(2749-2751)atG>atA	p.M917I	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.M877I|NRXN1_ENST00000406316.2_Missense_Mutation_p.M877I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M877I|NRXN1_ENST00000405472.3_Missense_Mutation_p.M869I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M869I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	877	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAATGTATGCCATTCCATTAA	0.433000													14	36					0	0	0.002450	0	0
RELN	5649	broad.mit.edu	37	7	103275976	103275976	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:103275976G>A	ENST00000424685.2	-	19	2520	c.2361C>T	c.(2359-2361)gcC>gcT	p.A787A	RELN_ENST00000343529.5_Silent_p.A787A|RELN_ENST00000428762.1_Silent_p.A787A			P78509	RELN_HUMAN	reelin	787					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)		GCTGATCAGGGGCTCTGCACG	0.408000													35	93					0	0	0.005524	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48599400	48599400	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48599400G>A	ENST00000323776.5	+	10	1506	c.1344G>A	c.(1342-1344)ggG>ggA	p.G448G	MYCBPAP_ENST00000436259.2_Silent_p.G411G	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	411					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGTTCTGTGGGAAGCCAGCTT	0.532000													78	8					0	0	0.003610	0	0
MUC13	56667	broad.mit.edu	37	3	124646518	124646518	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:124646518A>T	ENST00000311075.3	-	2	410	c.372T>A	c.(370-372)tcT>tcA	p.S124S		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	124	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CATCATTTGGAGATGAAGCGG	0.423000													59	96					0	0	0.003610	0	0
FAM120C	54954	broad.mit.edu	37	X	54161361	54161361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:54161361G>A	ENST00000375180.2	-	7	1575	c.1519C>T	c.(1519-1521)Ccc>Tcc	p.P507S	FAM120C_ENST00000328235.4_Missense_Mutation_p.P507S	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	507										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGGTAATTGGGAAACTGGGAT	0.512000													19	3					0	0	0.001523	0	0
SCARF1	8578	broad.mit.edu	37	17	1542987	1542987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:1542987G>A	ENST00000263071.4	-	7	1238	c.1189C>T	c.(1189-1191)Cct>Tct	p.P397S	SCARF1_ENST00000571272.1_Missense_Mutation_p.P397S|SCARF1_ENST00000348987.3_Intron	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	397					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CATTCACAAGGAACTGAGCAG	0.617000													8	0					0	0	0.000673	0	0
RYR1	6261	broad.mit.edu	37	19	39034006	39034006	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39034006G>A	ENST00000355481.4	+	84	11825	c.11694G>A	c.(11692-11694)cgG>cgA	p.R3898R	RYR1_ENST00000359596.3_Silent_p.R3903R|RYR1_ENST00000360985.3_Silent_p.R3898R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3903					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTACCTACGGACACAGACAG	0.483000													41	52					0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197398614	197398614	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:197398614C>T	ENST00000367397.1	+	4	1713	c.855C>T	c.(853-855)tcC>tcT	p.S285S	CRB1_ENST00000535699.1_Silent_p.S880S|CRB1_ENST00000367400.3_Silent_p.S904S|CRB1_ENST00000367399.2_Silent_p.S792S|CRB1_ENST00000544212.1_Silent_p.S385S|CRB1_ENST00000538660.1_Intron			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	904	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTTGCCATTCCCGGTGGGATG	0.507000													29	102					0	0	0.002836	0	0
USP19	10869	broad.mit.edu	37	3	49149062	49149062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49149062G>A	ENST00000453664.1	-	21	3370	c.3052C>T	c.(3052-3054)Ccc>Tcc	p.P1018S	USP19_ENST00000398896.1_Missense_Mutation_p.P735S|USP19_ENST00000417901.1_Missense_Mutation_p.P1030S|USP19_ENST00000398892.3_Missense_Mutation_p.P967S|USP19_ENST00000434032.2_Missense_Mutation_p.P1028S|USP19_ENST00000398898.2_Missense_Mutation_p.P967S|USP19_ENST00000398888.2_Missense_Mutation_p.P927S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	927					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACACCCGGGGAAGCCCTGTG	0.647000													10	22					0	0	0.000978	0	0
TMEM63C	57156	broad.mit.edu	37	14	77685307	77685307	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:77685307G>A	ENST00000298351.4	+	3	294		c.e3+1		RP11-463C8.4_ENST00000557752.1_Splice_Site	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C							integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTGTGGGTGGTGAGTCCTGG	0.592000													4	1					0	0	0.000248	0	0
TBX20	57057	broad.mit.edu	37	7	35280553	35280553	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:35280553A>G	ENST00000408931.3	-	5	1277	c.751T>C	c.(751-753)Ttt>Ctt	p.F251L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	251						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAAGTTCTAAATTCTTCAGAC	0.403000													15	28					0	0	0.003163	0	0
DCAF5	8816	broad.mit.edu	37	14	69521726	69521726	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:69521726G>A	ENST00000341516.5	-	9	1824	c.1677C>T	c.(1675-1677)tcC>tcT	p.S559S	DCAF5_ENST00000557386.1_Silent_p.S558S|DCAF5_ENST00000554215.1_Silent_p.S477S|DCAF5_ENST00000556847.1_Silent_p.S477S	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	559						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TGGAACTGCTGGATTCATCTT	0.572000													37	8					0	0	0.004878	0	0
RASGRP4	115727	broad.mit.edu	37	19	38911593	38911593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:38911593C>T	ENST00000454404.2	-	4	545	c.332G>A	c.(331-333)gGg>gAg	p.G111E	RASGRP4_ENST00000293062.9_Missense_Mutation_p.G111E|RASGRP4_ENST00000587753.1_Missense_Mutation_p.G111E|RASGRP4_ENST00000587738.1_Missense_Mutation_p.G111E|RASGRP4_ENST00000586305.1_Missense_Mutation_p.G111E|RASGRP4_ENST00000426920.2_Missense_Mutation_p.G111E|RASGRP4_ENST00000433821.2_Missense_Mutation_p.G111E	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	111	N-terminal Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGGGTGTCCCCTGTGGCCTT	0.587000													30	40					0	0	0.002096	0	0
SEC16B	89866	broad.mit.edu	37	1	177927422	177927422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:177927422G>A	ENST00000308284.6	-	10	1299	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.P405S	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	404					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						TTGGCCACAGGGGGCTGCCGC	0.587000													21	25					0	0	0.002780	0	0
OR5T3	390154	broad.mit.edu	37	11	56020179	56020179	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56020179C>T	ENST00000303059.3	+	1	504	c.504C>T	c.(502-504)ccC>ccT	p.P168P		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GCATGTCACCCAGAGTCTATG	0.433000													48	79					0	0	0.003610	0	0
CHD2	1106	broad.mit.edu	37	15	93557966	93557966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:93557966C>T	ENST00000394196.4	+	37	5801	c.4733C>T	c.(4732-4734)cCa>cTa	p.P1578L	CHD2_ENST00000557381.1_Missense_Mutation_p.P1578L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1578					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGTAAGAAACCATTTCGTCCA	0.502000													32	40					0	0	0.002836	0	0
MECOM	2122	broad.mit.edu	37	3	168861491	168861491	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:168861491C>T	ENST00000264674.3	-	3	271	c.133G>A	c.(133-135)Gat>Aat	p.D45N	MECOM_ENST00000472280.1_5'UTR|MECOM_ENST00000468789.1_5'UTR|MECOM_ENST00000494292.1_Missense_Mutation_p.D169N|MECOM_ENST00000433243.2_5'UTR|MECOM_ENST00000392736.3_5'UTR|MECOM_ENST00000464456.1_5'UTR	NM_001105077.3	NP_001098547.3	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATACCTGATCATTTATCTGG	0.413000													29	49					0	0	0.001271	0	0
ASH1L	55870	broad.mit.edu	37	1	155448429	155448429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155448429G>A	ENST00000368346.3	-	3	4871	c.4232C>T	c.(4231-4233)cCt>cTt	p.P1411L	ASH1L_ENST00000392403.3_Missense_Mutation_p.P1411L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1411	Pro-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGATGGAGGAGGTGGATAAAG	0.448000													47	31					0	0	0.003610	0	0
FAM26F	441168	broad.mit.edu	37	6	116784648	116784648	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:116784648G>A	ENST00000368605.1	+	3	823	c.728G>A	c.(727-729)gGc>gAc	p.G243D	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Missense_Mutation_p.G71D	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	243						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		TTCTTTGAGGGCTCGCATCCA	0.398000													51	76					0	0	0.003610	0	0
OR4A15	81328	broad.mit.edu	37	11	55136058	55136058	+	Silent	SNP	G	G	A	rs141225150	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55136058G>A	ENST00000314706.3	+	1	699	c.699G>A	c.(697-699)gcG>gcA	p.A233A		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A233A(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGGAGGAGCGATTTGTGCTG	0.413000													33	45					0	0	0.002096	0	0
PCDH15	65217	broad.mit.edu	37	10	55582378	55582378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55582378G>A	ENST00000361849.3	-	34	5508	c.5114C>T	c.(5113-5115)tCa>tTa	p.S1705L	PCDH15_ENST00000395430.1_Missense_Mutation_p.S1700L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1663L|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1680L|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1634L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1703L|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_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	1703					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)				ACAAGGCCTTGAAGGAGAAAG	0.383000										HNSCC(58;0.16)			20	39					0	0	0.001523	0	0
POLR2A	5430	broad.mit.edu	37	17	7416841	7416841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7416841C>T	ENST00000322644.6	+	29	5657	c.5258C>T	c.(5257-5259)cCc>cTc	p.P1753L		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1753	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCAACCAGTCCCAATTACACC	0.542000													102	22					0	0	0.003610	0	0
MERTK	10461	broad.mit.edu	37	2	112751959	112751959	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:112751959G>A	ENST00000295408.4	+	9	1685	c.1428G>A	c.(1426-1428)gtG>gtA	p.V476V	MERTK_ENST00000421804.2_Silent_p.V476V|MERTK_ENST00000409780.1_Silent_p.V300V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	476	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGATCCAGTGAAAATATTTA	0.537000													33	44					0	0	0.003271	0	0
CLCA4	22802	broad.mit.edu	37	1	87041210	87041210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:87041210G>A	ENST00000370563.3	+	11	1921	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	627						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)		TGTTCTTGGAGCCAATGTGAC	0.378000													51	63					0	0	0.003610	0	0
XKR6	286046	broad.mit.edu	37	8	11058138	11058138	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:11058138G>A	ENST00000416569.2	-	1	737	c.711C>T	c.(709-711)tcC>tcT	p.S237S	XKR6_ENST00000297303.4_Silent_p.S237S	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	237						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGATCCACACGGAGAGGCGAC	0.746000													13	4					0	0	0.004007	0	0
C1orf112	55732	broad.mit.edu	37	1	169772408	169772408	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:169772408C>T	ENST00000286031.6	+	5	970	c.270C>T	c.(268-270)tcC>tcT	p.S90S	C1orf112_ENST00000359326.4_Silent_p.S90S|C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000413811.2_Silent_p.S61S|C1orf112_ENST00000456684.1_Silent_p.S148S	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	90										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCTCCCCTCCTCAGTCCTTC	0.398000													17	31					0	0	0.000958	0	0
GAB4	128954	broad.mit.edu	37	22	17447179	17447179	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:17447179G>A	ENST00000400588.1	-	6	1206	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	367										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)				GGCAGGGTAGGGGAGCCTGGG	0.577000													12	16					0	0	0.001368	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436741	72436741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:72436741G>A	ENST00000392627.1	+	2	2087	c.961G>A	c.(961-963)Gat>Aat	p.D321N	GPRC5C_ENST00000392629.2_Missense_Mutation_p.D288N|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	276						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						TCCCACCTGGGATGACCCCAC	0.602000													30	7					0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9058186	9058186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9058186G>A	ENST00000397910.4	-	3	29463	c.29260C>T	c.(29260-29262)Cct>Tct	p.P9754S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9756	Ser-rich.|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						ACAGGAAGAGGAGAGGAGGGG	0.468000													12	24					0	0	0.001368	0	0
PTPRF	5792	broad.mit.edu	37	1	44069177	44069177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:44069177C>T	ENST00000359947.4	+	15	2771	c.2431C>T	c.(2431-2433)Ccc>Tcc	p.P811S	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.P802S|PTPRF_ENST00000422171.2_Missense_Mutation_p.P159S|PTPRF_ENST00000372413.3_Missense_Mutation_p.P802S|PTPRF_ENST00000372414.3_Missense_Mutation_p.P811S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	811	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGCAGCAAGCCCAAAATTGT	0.627000													18	45					0	0	0.001523	0	0
ISG20L2	81875	broad.mit.edu	37	1	156697010	156697010	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156697010G>A	ENST00000313146.6	-	1	1217	c.435C>T	c.(433-435)tcC>tcT	p.S145S	ISG20L2_ENST00000368219.1_Silent_p.S145S	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	145					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTTTTAGAGGATTTCTTCT	0.493000											OREG0013885	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	98	67					0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139160833	139160833	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139160833G>A	ENST00000395297.1	-	14	3548	c.3378C>T	c.(3376-3378)ttC>ttT	p.F1126F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1126										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)			CCTCTGGTGGGAAATATGGTA	0.378000										HNSCC(54;0.14)			17	38					0	0	0.006122	0	0
KANK2	25959	broad.mit.edu	37	19	11303680	11303680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:11303680G>A	ENST00000432929.2	-	4	1436	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	KANK2_ENST00000589894.1_Missense_Mutation_p.P359L|KANK2_ENST00000589359.1_Missense_Mutation_p.P359L|KANK2_ENST00000355150.5_Missense_Mutation_p.P359L|KANK2_ENST00000586659.1_Missense_Mutation_p.P359L	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	359										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTGCCGTAAGGCTCCAGGCT	0.692000													16	16					0	0	0.003163	0	0
CCRL2	9034	broad.mit.edu	37	3	46450373	46450373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46450373C>T	ENST00000399036.3	+	2	1155	c.803C>T	c.(802-804)tCc>tTc	p.S268F	ACKR5_ENST00000400882.2_Missense_Mutation_p.S268F|ACKR5_ENST00000357392.4_Missense_Mutation_p.S280F|ACKR5_ENST00000400880.3_Missense_Mutation_p.S268F	NM_003965.4	NP_003956.2																					GAACACTTCTCCCTGAGTGAC	0.463000													96	150					0	0	0.003610	0	0
RNF170	81790	broad.mit.edu	37	8	42725192	42725192	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:42725192G>A	ENST00000534961.1	-	4	753	c.277C>T	c.(277-279)Caa>Taa	p.Q93*	RNF170_ENST00000319104.3_Nonsense_Mutation_p.Q93*|RNF170_ENST00000526349.1_Nonsense_Mutation_p.Q9*|RNF170_ENST00000319073.4_Silent_p.T21T|RNF170_ENST00000527424.1_Nonsense_Mutation_p.Q93*	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	93						integral to membrane	zinc ion binding			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AAGGAGGCTTGGTGCAGGCAG	0.483000													49	12					0	0	0.003610	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389963	150389963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150389963G>A	ENST00000223293.5	+	3	683	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	197						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAAGTGAAGGAACTAATGGA	0.453000													21	44					0	0	0.005443	0	0
BTNL8	79908	broad.mit.edu	37	5	180326357	180326357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:180326357C>T	ENST00000231229.4	+	1	281	c.47C>T	c.(46-48)tCa>tTa	p.S16L	BTNL8_ENST00000508408.1_Missense_Mutation_p.S16L|BTNL8_ENST00000400707.3_5'UTR|BTNL8_ENST00000340184.4_Missense_Mutation_p.S16L|BTNL8_ENST00000511704.1_Missense_Mutation_p.S16L	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	16						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTGGGATCAGGTAAGACT	0.453000													80	25					0	0	0.003610	0	0
IBSP	3381	broad.mit.edu	37	4	88727328	88727328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:88727328G>A	ENST00000226284.5	+	5	305	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	80	Asp/Glu-rich (acidic).|Poly-Glu.				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		AGAGGAGGAGGAAGAAGAGGT	0.368000													11	21					0	0	0.001368	0	0
FNBP4	23360	broad.mit.edu	37	11	47744678	47744678	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:47744678A>T	ENST00000263773.5	-	15	2667	c.2655T>A	c.(2653-2655)gcT>gcA	p.A885A		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	885										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCAATGAGGGAGCAGTCACTC	0.547000													10	15					0	0	0.000443	0	0
LAMB4	22798	broad.mit.edu	37	7	107664613	107664613	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:107664613C>T	ENST00000388781.3	-	34	5240	c.5157G>A	c.(5155-5157)agG>agA	p.R1719R	LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000205386.4_Silent_p.R1719R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1719	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTTGGATTTTCCTTTCTAAAT	0.318000													8	21					0	0	0.004482	0	0
GSDMA	284110	broad.mit.edu	37	17	38133080	38133080	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38133080G>A	ENST00000301659.4	+	12	1225	c.1107G>A	c.(1105-1107)acG>acA	p.T369T		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	369					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TGGAGAGCACGATGGAACAGA	0.512000													54	16					0	0	0.003610	0	0
ADCY4	196883	broad.mit.edu	37	14	24800553	24800553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:24800553G>A	ENST00000310677.4	-	6	792	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F	ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_Missense_Mutation_p.L227F|ADCY4_ENST00000418030.2_Missense_Mutation_p.L227F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	227					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	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATGGACAAGAGAAGGTGTTCC	0.577000													20	5					0	0	0.002299	0	0
MYH4	4622	broad.mit.edu	37	17	10356594	10356594	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10356594G>A	ENST00000255381.2	-	24	3096	c.2986C>T	c.(2986-2988)Ctg>Ttg	p.L996L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	996					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCTTGGTCAGCTTAGCAATG	0.473000													128	32					0	0	0.003610	0	0
GRM4	2914	broad.mit.edu	37	6	34059808	34059808	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:34059808G>A	ENST00000374181.3	-	2	757	c.588C>T	c.(586-588)tcC>tcT	p.S196S	GRM4_ENST00000374177.3_Silent_p.S127S|GRM4_ENST00000538487.1_Silent_p.S196S|GRM4_ENST00000455714.2_Silent_p.S56S|GRM4_ENST00000535756.1_Silent_p.S63S|GRM4_ENST00000544773.1_Silent_p.S27S	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	196					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCACCACGCGGGAGAAGAAGT	0.642000													9	20					0	0	0.004482	0	0
TRIM2	23321	broad.mit.edu	37	4	154216662	154216662	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:154216662C>T	ENST00000338700.5	+	6	1049	c.984C>T	c.(982-984)ttC>ttT	p.F328F	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Silent_p.F301F	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	301						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AGCTGGATTTCATCGTGGAAA	0.607000													11	20					0	0	0.001855	0	0
AANAT	15	broad.mit.edu	37	17	74465773	74465773	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:74465773G>A	ENST00000250615.3	+	7	1487	c.480G>A	c.(478-480)ggG>ggA	p.G160G	AANAT_ENST00000392492.3_Silent_p.G115G	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	115	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						ACAGGTCTGGGGGCCACATAG	0.672000													7	0					0	0	0.003080	0	0
AHNAK	79026	broad.mit.edu	37	11	62296503	62296503	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62296503T>A	ENST00000378024.4	-	5	5660	c.5386A>T	c.(5386-5388)Aag>Tag	p.K1796*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1796					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTCTCCCTTCAGTTTGGGT	0.473000													66	90					0	0	0.003610	0	0
KCTD3	51133	broad.mit.edu	37	1	215751065	215751065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215751065C>T	ENST00000259154.4	+	5	604	c.310C>T	c.(310-312)Cca>Tca	p.P104S		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	104						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CGGGATCACTCCATTAGGTAT	0.338000													22	70					0	0	0.002299	0	0
ALLC	55821	broad.mit.edu	37	2	3750152	3750152	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:3750152A>T	ENST00000252505.3	+	12	1337	c.1175A>T	c.(1174-1176)tAa>tTa	p.*392L		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	0							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GCAAACCCTTAACACACACAA	0.522000										HNSCC(21;0.051)			13	9					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	215848409	215848409	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215848409G>A	ENST00000366943.2	-	63	13230	c.12844C>T	c.(12844-12846)Ctg>Ttg	p.L4282L	USH2A_ENST00000307340.3_Silent_p.L4282L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4282	Fibronectin type-III 28.				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)		CAGGAAATCAGCAGTTTTTGG	0.438000										HNSCC(13;0.011)			24	41					0	0	0.002780	0	0
CNTN4	152330	broad.mit.edu	37	3	2908486	2908486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:2908486C>T	ENST00000397461.1	+	7	889	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	CNTN4_ENST00000427331.1_Missense_Mutation_p.R169C|CNTN4_ENST00000358480.3_5'UTR|CNTN4_ENST00000418658.1_Missense_Mutation_p.R169C	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	169	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCAGGATAATCGCCGCTTTGT	0.383000													36	68					0	0	0.003610	0	0
KAT6A	7994	broad.mit.edu	37	8	41790311	41790311	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:41790311G>A	ENST00000396930.3	-	18	5970	c.5427C>T	c.(5425-5427)acC>acT	p.T1809T	KAT6A_ENST00000406337.1_Silent_p.T1809T|KAT6A_ENST00000265713.2_Silent_p.T1809T	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1809					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTGGCGTCATGGTGGCTTGTG	0.532000													54	17					0	0	0.003610	0	0
IGLL5	100423062	broad.mit.edu	37	22	23235927	23235927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:23235927C>T	ENST00000532223.1	+	2	531	c.257C>T	c.(256-258)cCc>cTc	p.P86L	IGLL5_ENST00000526893.1_Missense_Mutation_p.P85L|IGLJ1_ENST00000390320.2_RNA|IGLL5_ENST00000531372.1_Intron			B9A064	IGLL5_HUMAN	immunoglobulin lambda-like polypeptide 5	85						extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|urinary_tract(1)	7						AGGTGCTGGCCCCGGGGGTTT	0.632000													7	9					0	0	0.003080	0	0
SNHG14	104472715	broad.mit.edu	37	15	25458714	25458714	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:25458714C>T	ENST00000424208.1	+	0	2671				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TTCCTGGCATCCTGGCCTCCT	0.582000													7	9					0	0	0.001984	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058291	152058291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152058291C>T	ENST00000368806.1	-	3	1931	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	623							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTGGTCCTCTGTGAGCTGT	0.557000													27	59					0	0	0.005443	0	0
EXD2	55218	broad.mit.edu	37	14	69707717	69707717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:69707717C>T	ENST00000409014.1	+	11	2048	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	EXD2_ENST00000312994.5_Missense_Mutation_p.S589F|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409675.1_Missense_Mutation_p.S464F|EXD2_ENST00000449989.1_Missense_Mutation_p.S464F|EXD2_ENST00000409242.1_Missense_Mutation_p.S464F|EXD2_ENST00000409949.1_Missense_Mutation_p.S464F|RP11-363J20.2_ENST00000556316.1_lincRNA|EXD2_ENST00000409018.3_Missense_Mutation_p.S589F	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	464					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTCCTGGACTCCATGCAGCCC	0.602000													29	5					0	0	0.001271	0	0
DCST2	127579	broad.mit.edu	37	1	155005627	155005627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155005627C>T	ENST00000368424.3	-	2	440	c.382G>A	c.(382-384)Gag>Aag	p.E128K	DCST2_ENST00000295536.5_Missense_Mutation_p.E128K	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	128						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGGGCCAGCTCTGCCCCACAG	0.612000													5	6					0	0	0.000602	0	0
SMPD3	55512	broad.mit.edu	37	16	68405554	68405554	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:68405554G>A	ENST00000219334.5	-	3	1134	c.531C>T	c.(529-531)acC>acT	p.T177T	SMPD3_ENST00000568373.1_Silent_p.T177T|SMPD3_ENST00000563226.1_Silent_p.T177T	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	177					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CGCTGATGGAGGTATTGGTGG	0.627000													6	22					0	0	0.001984	0	0
SORCS3	22986	broad.mit.edu	37	10	106937874	106937874	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106937874T>A	ENST00000369701.3	+	14	2179	c.1952T>A	c.(1951-1953)gTt>gAt	p.V651D	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	651						integral to membrane	neuropeptide receptor activity	p.V651A(1)		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)		TTCACTTCGGTTCCTCTCTTT	0.478000													15	29					0	0	0.006122	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292607	4292607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:4292607C>T	ENST00000301272.2	-	5	883	c.838G>A	c.(838-840)Gga>Aga	p.G280R	TMIGD2_ENST00000600114.1_Missense_Mutation_p.G160R|TMIGD2_ENST00000600349.1_Missense_Mutation_p.G108R|TMIGD2_ENST00000595645.1_Missense_Mutation_p.G276R	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	280						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTCCTCTCCCACTTTGGGG	0.627000													66	66					0	0	0.003610	0	0
SPPL3	121665	broad.mit.edu	37	12	121206784	121206784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121206784G>A	ENST00000353487.2	-	7	1084	c.581C>T	c.(580-582)tCa>tTa	p.S194L		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	195						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGAAGCCCTGAGAGAAGCAG	0.532000													11	8					0	0	0.001855	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364455	142364455	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142364455G>A	ENST00000390397.2	+	0	126																											CAAGGAATAGGATCACAAAGA	0.458000													3	4					0	0	0.000248	0	0
GRID1	2894	broad.mit.edu	37	10	87362269	87362269	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:87362269G>A	ENST00000327946.7	-	16	2876	c.2791C>T	c.(2791-2793)Ctg>Ttg	p.L931L	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Silent_p.L502L	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	931						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGCTCTGGCAGAAAGGTGCTG	0.657000										Multiple Myeloma(13;0.14)			12	17					0	0	0.002450	0	0
IGHA1	3493	broad.mit.edu	37	14	106173725	106173725	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:106173725G>A	ENST00000390547.2	-	0	841																											CTCCTGCCGGGATGCCCAAGT	0.657000													27	17					0	0	0.001271	0	0
C11orf70	85016	broad.mit.edu	37	11	101951950	101951950	+	Nonsense_Mutation	SNP	C	C	T	rs140641107		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:101951950C>T	ENST00000434758.2	+	6	641	c.613C>T	c.(613-615)Cga>Tga	p.R205*	C11orf70_ENST00000526781.1_Nonsense_Mutation_p.R205*	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	205										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TTTTAGTGTTCGAAAGAATCC	0.299000													19	51					0	0	0.001216	0	0
LHFPL4	375323	broad.mit.edu	37	3	9543971	9543971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9543971G>A	ENST00000287585.6	-	4	953	c.668C>T	c.(667-669)tCc>tTc	p.S223F		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	223						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CCGCAACACGGAGCTTACTGT	0.557000													9	10					0	0	0.000673	0	0
INADL	10207	broad.mit.edu	37	1	62582853	62582853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:62582853C>T	ENST00000371158.2	+	37	4967	c.4853C>T	c.(4852-4854)tCc>tTc	p.S1618F	INADL_ENST00000543708.1_Missense_Mutation_p.S432F	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1618					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CGAGCTGGTTCCTGGACCTCC	0.488000													24	36					0	0	0.001786	0	0
STYXL1	51657	broad.mit.edu	37	7	75651290	75651290	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:75651290G>A	ENST00000451157.1	-	4	355	c.186C>T	c.(184-186)ctC>ctT	p.L62L	STYXL1_ENST00000359697.3_Silent_p.L62L|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000248600.1_Silent_p.L62L|STYXL1_ENST00000431581.1_Silent_p.L62L|STYXL1_ENST00000360591.3_Silent_p.L62L			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	62	Rhodanese.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CAGACTCCGGGAGAAGATATT	0.448000													84	6					0	0	0.003610	0	0
KIAA0319	9856	broad.mit.edu	37	6	24576801	24576801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24576801C>T	ENST00000535378.1	-	11	2144	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	KIAA0319_ENST00000378214.3_Missense_Mutation_p.G510E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G510E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.G510E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G465E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	510	PKD 2.				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						GTTAGTGGCTCCGTCCGAGTC	0.488000													74	111					0	0	0.003610	0	0
FUT5	2527	broad.mit.edu	37	19	5867503	5867503	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:5867503G>A	ENST00000252675.5	-	5	796	c.234C>T	c.(232-234)atC>atT	p.I78I	FUT5_ENST00000588525.1_Silent_p.I78I			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	78					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TCCACAGCAGGATCAGTAGGG	0.657000													18	22					0	0	0.001216	0	0
CNTN4	152330	broad.mit.edu	37	3	3078992	3078992	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:3078992A>T	ENST00000397461.1	+	17	2456	c.2072A>T	c.(2071-2073)aAa>aTa	p.K691I	CNTN4_ENST00000427331.1_Missense_Mutation_p.K691I|CNTN4_ENST00000358480.3_Missense_Mutation_p.K472I|CNTN4_ENST00000418658.1_Missense_Mutation_p.K691I|CNTN4_ENST00000397459.2_Missense_Mutation_p.K363I|CNTN4_ENST00000448906.2_Missense_Mutation_p.K363I	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	691	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCCTCAGAGAAACGGAGAACA	0.522000													42	83					0	0	0.002852	0	0
COMP	1311	broad.mit.edu	37	19	18895057	18895057	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:18895057C>T	ENST00000542601.2	-	16	2321	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K	COMP_ENST00000425807.1_Silent_p.K624K|COMP_ENST00000222271.2_Silent_p.K677K			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	677	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACTTCTTGTCCTTCCAACCCA	0.632000													26	56					0	0	0.001061	0	0
NDST4	64579	broad.mit.edu	37	4	115749015	115749015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:115749015G>A	ENST00000264363.2	-	14	3254	c.2576C>T	c.(2575-2577)cCt>cTt	p.P859L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	859	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CGATGGCAGAGGCTGTCCCAG	0.398000													17	33					0	0	0.004990	0	0
MNDA	4332	broad.mit.edu	37	1	158813902	158813902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158813902C>T	ENST00000368141.4	+	4	821	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	187					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCCAACACTTCGTTTACTCCG	0.493000													36	74					0	0	0.001485	0	0
KLHL12	59349	broad.mit.edu	37	1	202862512	202862512	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:202862512C>A	ENST00000367261.3	-	11	1653	c.1435G>T	c.(1435-1437)Ggg>Tgg	p.G479W	KLHL12_ENST00000435533.3_Missense_Mutation_p.G517W|KLHL12_ENST00000367259.1_Intron	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	479	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCAAATCCCCCCACCACATAA	0.453000													7	138					0.00307968	0.0057151	0.003080	1	0
CYP2C19	1557	broad.mit.edu	37	10	96580387	96580387	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96580387G>A	ENST00000371321.3	+	6	1036	c.954G>A	c.(952-954)gaG>gaA	p.E318E	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	318					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGCACCCAGAGGTCACAGGTA	0.453000													23	59					0	0	0.005443	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64532454	64532454	+	Silent	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:64532454T>G	ENST00000498707.1	-	32	5386	c.5044A>C	c.(5044-5046)Aga>Cga	p.R1682R	ADAMTS9_ENST00000295903.4_Silent_p.R1654R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1682	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGCCAACTCTCCAGGTGGCC	0.552000													74	137					0	0	0.003610	0	0
GRK7	131890	broad.mit.edu	37	3	141499482	141499482	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:141499482G>A	ENST00000264952.2	+	2	1016	c.879G>A	c.(877-879)gtG>gtA	p.V293V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	293	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TGAGCCGGGTGATCTTTTACT	0.557000													21	23					0	0	0.002299	0	0
OR7A17	26333	broad.mit.edu	37	19	14991497	14991497	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:14991497G>A	ENST00000327462.2	-	1	767	c.671C>T	c.(670-672)tCc>tTc	p.S224F		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TGCACGTATGGAGGAAACTAT	0.483000													49	48					0	0	0.003610	0	0
NEBL	10529	broad.mit.edu	37	10	21115400	21115400	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:21115400C>T	ENST00000377122.4	-	18	2241	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	615					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						GCTGATTTTTCTTCACTCGTT	0.313000													64	112					0	0	0.003610	0	0
PID1	55022	broad.mit.edu	37	2	229890678	229890678	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:229890678G>A	ENST00000392054.3	-	4	756	c.417C>T	c.(415-417)ttC>ttT	p.F139F	PID1_ENST00000392055.3_Silent_p.F108F|PID1_ENST00000409462.1_Silent_p.F59F|PID1_ENST00000354069.6_Silent_p.F141F|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	141	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GCCAAACTTGGAATGGCCGGA	0.582000													25	35					0	0	0.004656	0	0
ZDHHC24	254359	broad.mit.edu	37	11	66311202	66311202	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:66311202G>A	ENST00000310442.3	-	2	766	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	ZDHHC24_ENST00000525925.1_5'UTR|ZDHHC24_ENST00000526986.1_Silent_p.L178L	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	178	Leu-rich.					integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CAGGGAAGCAGGAGGAGGGCA	0.677000											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	2					0	0	0.000602	0	0
SMOC1	64093	broad.mit.edu	37	14	70461138	70461138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:70461138G>A	ENST00000381280.4	+	7	858	c.605G>A	c.(604-606)tGg>tAg	p.W202*	SMOC1_ENST00000361956.3_Nonsense_Mutation_p.W202*	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	202					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAACTCTATGGATTAAACAC	0.408000													167	34					0	0	0.003610	0	0
DOCK3	1795	broad.mit.edu	37	3	51349990	51349990	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:51349990G>A	ENST00000266037.9	+	30	3200	c.3177G>A	c.(3175-3177)agG>agA	p.R1059R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1059						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGCCAAAAGGAAGAAGATTC	0.398000													21	39					0	0	0.002299	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891226	18891226	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:18891226G>A	ENST00000317658.3	+	1	182	c.24G>A	c.(22-24)agG>agA	p.R8R		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	8					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGCTGAGCAGGAAGGACAAGG	0.433000													25	55					0	0	0.004656	0	0
SPAG17	200162	broad.mit.edu	37	1	118539095	118539095	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:118539095C>T	ENST00000336338.5	-	34	5016	c.4951G>A	c.(4951-4953)Gga>Aga	p.G1651R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1651						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGTTCCATTCCTGATCCATCA	0.338000													37	65					0	0	0.002522	0	0
ARAP2	116984	broad.mit.edu	37	4	36230380	36230380	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:36230380G>A	ENST00000303965.4	-	2	1218	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	243					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						TAAAGAATGGGGATGGTGGTG	0.388000													31	64					0	0	0.001786	0	0
STK17A	9263	broad.mit.edu	37	7	43663439	43663439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:43663439C>T	ENST00000319357.5	+	6	1051	c.872C>T	c.(871-873)tCt>tTt	p.S291F		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	291	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GATGTTTTGTCTGAGTCGGCT	0.279000													29	39					0	0	0.002445	0	0
SNHG14	104472715	broad.mit.edu	37	15	25432688	25432688	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:25432688G>A	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						GGGTTGGGTCGATGATGAGAA	0.537000													58	122					0	0	0.003610	0	0
PKDCC	91461	broad.mit.edu	37	2	42282532	42282532	+	Splice_Site	SNP	C	C	T	rs142280977	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:42282532C>T	ENST00000294964.5	+	5	1401	c.1222_splice	c.e5+1	p.T407_splice	PKDCC_ENST00000480099.1_Intron	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	407	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						GCAGCAGTACCGGTGAGTGGC	0.617000													6	13					0	0	0.001984	0	0
MYO9B	4650	broad.mit.edu	37	19	17265205	17265205	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17265205C>T	ENST00000595618.1	+	6	1331	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Silent_p.F393F|MYO9B_ENST00000397274.2_Silent_p.F393F	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	393	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGGTGGGCTTCCTCCCCGCCA	0.582000													26	35					0	0	0.001061	0	0
GK5	256356	broad.mit.edu	37	3	141923617	141923617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:141923617G>A	ENST00000392993.2	-	4	482	c.331C>T	c.(331-333)Cat>Tat	p.H111Y	GK5_ENST00000544571.1_Missense_Mutation_p.H111Y|GK5_ENST00000466685.3_5'UTR	NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	111					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTGTGAAAATGATTTCCTGTT	0.313000													38	59					0	0	0.004878	0	0
CYP2C8	1558	broad.mit.edu	37	10	96824557	96824557	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96824557C>T	ENST00000371270.3	-	4	736	c.642_splice	c.e4+1	p.Q214_splice	CYP2C8_ENST00000535898.1_Splice_Site_p.Q112_splice|CYP2C8_ENST00000539050.1_Splice_Site_p.Q128_splice	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	214					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTGGCCTTACCTGGATCCATG	0.328000													13	28					0	0	0.001368	0	0
CNTN4	152330	broad.mit.edu	37	3	2861227	2861227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:2861227G>A	ENST00000397461.1	+	6	800	c.416G>A	c.(415-417)gGa>gAa	p.G139E	CNTN4_ENST00000427331.1_Missense_Mutation_p.G139E|CNTN4_ENST00000418658.1_Missense_Mutation_p.G139E	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	139	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CGAGGTCAAGGAATGGTGCTA	0.408000													25	46					0	0	0.001512	0	0
SATL1	340562	broad.mit.edu	37	X	84362877	84362877	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:84362877C>T	ENST00000509231.1	-	1	1177	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	SATL1_ENST00000395409.3_Silent_p.T179T|SATL1_ENST00000332921.5_Silent_p.T179T			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	179	N-acetyltransferase.|Substrate binding (By similarity).						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGCTTGGCTCGTGCTTGATT	0.532000													26	6					0	0	0.001271	0	0
UNC45B	146862	broad.mit.edu	37	17	33513465	33513465	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:33513465C>T	ENST00000268876.5	+	20	2780	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L	UNC45B_ENST00000591048.1_Silent_p.L814L|UNC45B_ENST00000378449.1_Silent_p.L814L|UNC45B_ENST00000433649.1_Silent_p.L893L|UNC45B_ENST00000394570.2_Silent_p.L893L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	895					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GCTGGAGATCCTGACTGTGGT	0.537000													12	21					0	0	0.001368	0	0
SI	6476	broad.mit.edu	37	3	164764664	164764664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:164764664C>T	ENST00000264382.3	-	16	1914	c.1852G>A	c.(1852-1854)Gga>Aga	p.G618R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	618	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCAGCATTCCAGTTATAGAC	0.373000										HNSCC(35;0.089)			47	66					0	0	0.003610	0	0
OR8B3	390271	broad.mit.edu	37	11	124266346	124266346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124266346C>T	ENST00000354597.3	-	1	918	c.902G>A	c.(901-903)aGg>aAg	p.R301K		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	301					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)		CAGAGCTTTCCTCAGTGCAAC	0.343000													26	60					0	0	0.001061	0	0
TTN	7273	broad.mit.edu	37	2	179485684	179485684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179485684C>T	ENST00000589042.1	-	247	45877	c.45653G>A	c.(45652-45654)cGg>cAg	p.R15218Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R6153Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R13577Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6278Q|TTN_ENST00000342992.6_Missense_Mutation_p.R12650Q|TTN_ENST00000342175.6_Missense_Mutation_p.R6345Q|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13577	Fibronectin type-III 11.						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)			TTCCTTCACCCGGGTGTCCTT	0.373000													31	30					0	0	0.003271	0	0
ACAD10	80724	broad.mit.edu	37	12	112187039	112187039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:112187039C>T	ENST00000455480.2	+	19	2977	c.2800C>T	c.(2800-2802)Cct>Tct	p.P934S	ACAD10_ENST00000313698.4_Missense_Mutation_p.P903S	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	903							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						GGTCCTGGGCCCTGGCCGAGG	0.587000													47	53					0	0	0.002852	0	0
FUT5	2527	broad.mit.edu	37	19	5867303	5867303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:5867303C>T	ENST00000252675.5	-	5	996	c.434G>A	c.(433-435)tGg>tAg	p.W145*	FUT5_ENST00000588525.1_Nonsense_Mutation_p.W145*			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	145					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GAACCAGATCCAGCGCTGCCC	0.627000													16	26					0	0	0.004990	0	0
POU6F2	11281	broad.mit.edu	37	7	39503854	39503854	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:39503854G>A	ENST00000559001.1	+	8	1581	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	POU6F2_ENST00000403058.1_Missense_Mutation_p.A549T|POU6F2_ENST00000518318.2_Intron			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	549	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGTCTGACAGCCAAACTGAA	0.502000													41	67					0	0	0.002522	0	0
OR1S1	219959	broad.mit.edu	37	11	57982549	57982549	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57982549C>T	ENST00000309433.6	+	1	333	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AGAGCTGCATCACACAGATGT	0.428000													43	75					0	0	0.001706	0	0
NLRP8	126205	broad.mit.edu	37	19	56473562	56473562	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56473562G>A	ENST00000291971.3	+	4	2243	c.2172G>A	c.(2170-2172)gcG>gcA	p.A724A	NLRP8_ENST00000590542.1_Silent_p.A724A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	724						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGGCTCTCGCGGCCGCACTGA	0.488000													20	49					0	0	0.001882	0	0
HECW2	57520	broad.mit.edu	37	2	197184562	197184562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:197184562G>A	ENST00000260983.2	-	9	1234	c.1052C>T	c.(1051-1053)cCt>cTt	p.P351L	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	351					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTCATCGGAAGGGCTACCTAA	0.493000													12	24					0	0	0.000978	0	0
UBD	10537	broad.mit.edu	37	6	29523698	29523698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29523698C>T	ENST00000377050.4	-	2	680	c.457G>A	c.(457-459)Ggc>Agc	p.G153S	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	153	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGTAAGTTGCCCTTTCTGATG	0.468000													22	35					0	0	0.003954	0	0
CUX2	23316	broad.mit.edu	37	12	111744858	111744858	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:111744858C>T	ENST00000261726.6	+	11	1146	c.992C>T	c.(991-993)tCc>tTc	p.S331F		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	331						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGGAGGCATCCGCCAACCAG	0.692000													5	10					0	0	0.000602	0	0
TPP1	1200	broad.mit.edu	37	11	6637259	6637259	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6637259G>A	ENST00000533371.1	-	8	1191	c.393C>T	c.(391-393)ttC>ttT	p.F131F	TPP1_ENST00000299427.6_Silent_p.F374F			O14773	TPP1_HUMAN	tripeptidyl peptidase I	374					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		AGGTAGGGCGGAACTGGTGTC	0.493000													22	24					0	0	0.005443	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882210	7882210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7882210C>T	ENST00000542353.1	-	7	1114	c.624G>A	c.(622-624)atG>atA	p.M208I	CLEC4C_ENST00000354629.5_Missense_Mutation_p.M177I|CLEC4C_ENST00000540085.1_Missense_Mutation_p.M177I|CLEC4C_ENST00000360345.3_Missense_Mutation_p.M208I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	208					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AGATCTTCTTCATCTTGCAAA	0.363000													25	32					0	0	0.001061	0	0
DCDC1	341019	broad.mit.edu	37	11	30902777	30902777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30902777G>A	ENST00000597505.1	-	35	5151	c.5152C>T	c.(5152-5154)Cag>Tag	p.Q1718*				P59894	DCDC1_HUMAN	doublecortin domain containing 1	224					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCCCAGGACTGAATTGGCTCT	0.498000													25	30					0	0	0.004656	0	0
OTOA	146183	broad.mit.edu	37	16	21734277	21734277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:21734277C>T	ENST00000388958.3	+	17	1859	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	OTOA_ENST00000286149.4_Missense_Mutation_p.P634S|OTOA_ENST00000388957.3_Missense_Mutation_p.P296S|OTOA_ENST00000388956.4_Missense_Mutation_p.P541S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	634					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTCTATGCCACCTTTCCTCTT	0.453000													21	23					0	0	0.002780	0	0
DMBT1	1755	broad.mit.edu	37	10	124390787	124390787	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124390787C>T	ENST00000368909.3	+	46	6055	c.5949C>T	c.(5947-5949)gtC>gtT	p.V1983V	DMBT1_ENST00000368955.3_Silent_p.V1973V|DMBT1_ENST00000338354.3_Silent_p.V1983V|DMBT1_ENST00000368956.2_Silent_p.V1355V|DMBT1_ENST00000344338.3_Silent_p.V1973V|DMBT1_ENST00000330163.4_Silent_p.V1355V|DMBT1_ENST00000359586.6_Silent_p.V703V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1983	SRCR 14.				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)				ATGCTGGTGTCATCTGCTCAG	0.537000													35	54					0	0	0.001485	0	0
GPR19	2842	broad.mit.edu	37	12	12814241	12814241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:12814241G>A	ENST00000540510.1	-	2	1334	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	GPR19_ENST00000332427.2_Missense_Mutation_p.A381V			Q15760	GPR19_HUMAN	G protein-coupled receptor 19	381						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AATAGTTTTGGCCATGGAAGG	0.388000													54	62					0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92523162	92523162	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92523162G>A	ENST00000298047.6	+	7	4406	c.4389G>A	c.(4387-4389)ccG>ccA	p.P1463P	FAT3_ENST00000409404.2_Silent_p.P1463P|FAT3_ENST00000525166.1_Silent_p.P1313P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1463	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTCTCAGCCGAATTACGATG	0.413000										TCGA Ovarian(4;0.039)			125	223					0	0	0.003610	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650684	232650684	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:232650684G>A	ENST00000366630.1	-	2	760	c.402C>T	c.(400-402)ttC>ttT	p.F134F	SIPA1L2_ENST00000262861.4_Silent_p.F134F			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	134					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)				TGGCCTCCACGAAGTCCAGAT	0.502000													48	83					0	0	0.003610	0	0
MUC4	4585	broad.mit.edu	37	3	195516563	195516563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:195516563C>T	ENST00000463781.3	-	2	2347	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.E630K|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	635					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGGTGATTCCTGAGGAGAG	0.488000													69	87					0	0	0.003610	0	0
BCL11A	53335	broad.mit.edu	37	2	60689273	60689273	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:60689273G>A	ENST00000335712.6	-	4	1001	c.774C>T	c.(772-774)cgC>cgT	p.R258R	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.R224R|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Silent_p.R224R|BCL11A_ENST00000356842.4_Silent_p.R258R|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	258					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGGTGGAAAGCGCCCTTCTG	0.582000			T	IGH@	B-CLL								144	156					0	0	0.003610	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969287	140969287	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:140969287T>C	ENST00000298296.1	+	4	614	c.614T>C	c.(613-615)cTc>cCc	p.L205P	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	205	MAGE 1.									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)					AAAGAGCCTCTCACAAGAGCA	0.448000													56	12					0	0	0.003610	0	0
FOXR2	139628	broad.mit.edu	37	X	55650562	55650562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:55650562C>T	ENST00000339140.3	+	1	730	c.418C>T	c.(418-420)Cct>Tct	p.P140S		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	140					embryo development|organ development|pattern specification process|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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TGAGCAGTCTCCTTTACAGAA	0.517000													11	2					0	0	0.000978	0	0
TBX20	57057	broad.mit.edu	37	7	35242131	35242131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:35242131G>A	ENST00000408931.3	-	8	1781	c.1255C>T	c.(1255-1257)Ccg>Tcg	p.P419S		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	419						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TGGTATCGCGGCATGTGGAAT	0.522000													11	4					0	0	0.000673	0	0
ENOPH1	58478	broad.mit.edu	37	4	83375878	83375878	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:83375878C>T	ENST00000273920.3	+	4	661	c.393C>T	c.(391-393)ttC>ttT	p.F131F	ENOPH1_ENST00000509635.1_Silent_p.F43F	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	131					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						CCTCTAGGTTCTTTGCAGATG	0.453000													39	53					0	0	0.002522	0	0
VWF	7450	broad.mit.edu	37	12	6232351	6232351	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:6232351G>A	ENST00000261405.5	-	2	266	c.12C>T	c.(10-12)gcC>gcT	p.A4A	VWF_ENST00000572068.1_5'UTR|VWF_ENST00000545906.1_5'UTR	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	4					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGGCAAATCTGGCAGGAATCA	0.557000													28	38					0	0	0.002445	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711275	140711275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140711275G>A	ENST00000517417.1	+	1	1024	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D342N	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATGTAAATGATAATGCCCC	0.438000													19	9					0	0	0.001216	0	0
GCM2	9247	broad.mit.edu	37	6	10877559	10877559	+	Missense_Mutation	SNP	C	C	T	rs11963186	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:10877559C>T	ENST00000379491.4	-	2	304	c.157G>A	c.(157-159)Gat>Aat	p.D53N	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	53			D -> N (in dbSNP:rs11963186).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TTCTTCTCATCGCTGCTGTAG	0.572000													12	16					0	0	0.001368	0	0
VAT1L	57687	broad.mit.edu	37	16	77918618	77918618	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:77918618G>A	ENST00000302536.2	+	7	1149	c.996G>A	c.(994-996)cgG>cgA	p.R332R		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	332							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GCCTCATTCGGGGAGTGGTGG	0.507000													11	13					0	0	0.000673	0	0
IL7R	3575	broad.mit.edu	37	5	35875626	35875626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35875626C>T	ENST00000343305.4	+	6	808	c.719C>T	c.(718-720)tCg>tTg	p.S240L	IL7R_ENST00000506850.1_Missense_Mutation_p.S240L|IL7R_ENST00000303115.3_Silent_p.I271I			P16871	IL7RA_HUMAN	interleukin 7 receptor	0					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TTAAGCCTATCGTATGGCCCA	0.433000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						26	26					0	0	0.001786	0	0
TTN	7273	broad.mit.edu	37	2	179604238	179604238	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179604238C>T	ENST00000589042.1	-	48	13946	c.13722G>A	c.(13720-13722)gaG>gaA	p.E4574E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.E4211E|TTN_ENST00000591111.1_Silent_p.E4257E|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.E4336E|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.E4403E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4257	Ig-like 26.						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)			CCTCTTTTTCCTCTGATGGTT	0.448000													25	47					0	0	0.005443	0	0
TNS3	64759	broad.mit.edu	37	7	47384609	47384609	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:47384609G>A	ENST00000398879.1	-	19	2845	c.2479C>T	c.(2479-2481)Ctc>Ttc	p.L827F	TNS3_ENST00000311160.9_Missense_Mutation_p.L827F|TNS3_ENST00000355730.3_Missense_Mutation_p.L587F			Q68CZ2	TENS3_HUMAN	tensin 3	827						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATAATATCGAGGTCCTGGGGA	0.478000													24	26					0	0	0.001512	0	0
PLS1	5357	broad.mit.edu	37	3	142402848	142402848	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:142402848G>A	ENST00000337777.3	+	7	793	c.579_splice	c.e7-1	p.E194_splice	PLS1_ENST00000497002.1_Splice_Site_p.E194_splice|PLS1_ENST00000457734.2_Splice_Site_p.E194_splice	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	194	Actin-binding 1.|CH 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E194K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GGCAATTCAGGAAAATTTAAA	0.358000													13	35					0	0	0.001855	0	0
CMYA5	202333	broad.mit.edu	37	5	79025195	79025195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:79025195C>T	ENST00000446378.2	+	2	638	c.607C>T	c.(607-609)Ccg>Tcg	p.P203S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	203						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAATACACCTCCGATTACTGG	0.353000													29	16					0	0	0.001271	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95709754	95709754	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:95709754C>T	ENST00000324972.6	+	16	1974	c.1781C>T	c.(1780-1782)gCt>gTt	p.A594V	DYNC1I1_ENST00000537881.1_Missense_Mutation_p.A557V|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.A577V|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.A574V|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.A577V|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.A557V	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	594					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			AAAGAAGTTGCTGTTGGGGAC	0.498000													54	110					0	0	0.003610	0	0
LPHN3	23284	broad.mit.edu	37	4	62812733	62812733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:62812733C>T	ENST00000512091.1	+	15	3064	c.2317C>T	c.(2317-2319)Cat>Tat	p.H773Y	LPHN3_ENST00000511324.1_Missense_Mutation_p.H841Y|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000506700.1_Missense_Mutation_p.H773Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.H841Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.H773Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.H841Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.H841Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.H773Y|LPHN3_ENST00000514591.1_Missense_Mutation_p.H773Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.H841Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.H841Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.H841Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.H773Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.H773Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.H773Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	760					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTCCACAAATCATTCTGTTAT	0.398000													89	99					0	0	0.003610	0	0
CDH9	1007	broad.mit.edu	37	5	26881298	26881298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:26881298G>A	ENST00000231021.4	-	12	2489	c.2317C>T	c.(2317-2319)Cgt>Tgt	p.R773C		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	773					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTTGAAACGAGGCCCCCAG	0.408000													33	69					0	0	0.002445	0	0
XIRP1	165904	broad.mit.edu	37	3	39230046	39230046	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:39230046C>T	ENST00000340369.3	-	2	1119	c.891G>A	c.(889-891)gaG>gaA	p.E297E	XIRP1_ENST00000396251.1_Silent_p.E297E|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	297							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGGCCCCCTCCTCCAGGGAAA	0.642000													13	16					0	0	0.001855	0	0
MAST1	22983	broad.mit.edu	37	19	12976547	12976547	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:12976547C>T	ENST00000251472.4	+	16	1860	c.1821C>T	c.(1819-1821)ccC>ccT	p.P607P		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	607	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCTGTGGCCCGAGGGGGATG	0.562000													24	53					0	0	0.004656	0	0
BMPER	168667	broad.mit.edu	37	7	34118759	34118759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:34118759G>A	ENST00000297161.2	+	13	1743	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	BMPER_ENST00000426693.1_Missense_Mutation_p.D457N	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	457	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTTCCACATCGACCTGGATGG	0.652000													15	31					0	0	0.003163	0	0
RNF219	79596	broad.mit.edu	37	13	79189748	79189748	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:79189748G>A	ENST00000282003.6	-	6	2206	c.2148C>T	c.(2146-2148)tcC>tcT	p.S716S	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	716	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGCTGGCACTGGAAAGGCTGC	0.373000													53	19					0	0	0.003610	0	0
C2orf62	375307	broad.mit.edu	37	2	219222789	219222789	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219222789G>A	ENST00000289388.3	+	4	378	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	117										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGCTCATGGAACAGCACAG	0.532000													30	50					0	0	0.001786	0	0
EYS	346007	broad.mit.edu	37	6	66115113	66115113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:66115113G>A	ENST00000503581.1	-	6	1547	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	EYS_ENST00000342421.5_Missense_Mutation_p.S337L|EYS_ENST00000370616.2_Missense_Mutation_p.S337L|EYS_ENST00000393380.2_Missense_Mutation_p.S337L|EYS_ENST00000370618.3_Missense_Mutation_p.S337L|EYS_ENST00000370621.3_Missense_Mutation_p.S337L	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	337	EGF-like 4.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.S337L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGGTACTAATGAAAACTCACT	0.338000													51	57					0	0	0.003610	0	0
SP7	121340	broad.mit.edu	37	12	53722505	53722505	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53722505C>G	ENST00000536324.2	-	3	1004	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	SP7_ENST00000537210.2_Missense_Mutation_p.E223Q|SP7_ENST00000303846.3_Missense_Mutation_p.E241Q	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CCACTCCCTTCTAGCTGCCCA	0.622000													18	26					0	0	0.006122	0	0
PANK4	55229	broad.mit.edu	37	1	2450650	2450650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:2450650C>T	ENST00000378466.3	-	7	979	c.967G>A	c.(967-969)Ggc>Agc	p.G323S	PANK4_ENST00000435556.3_Missense_Mutation_p.G284S	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	323					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ATAAAGAAGCCTCCAAAGTAC	0.597000													26	26					0	0	0.004656	0	0
CACNG7	59284	broad.mit.edu	37	19	54418665	54418665	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:54418665C>T	ENST00000391767.1	+	4	542	c.330C>T	c.(328-330)ctC>ctT	p.L110L	CACNG7_ENST00000391766.1_Silent_p.L110L|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000222212.2_Silent_p.L110L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	110					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCCTCTTCCTCGTGTTCACGG	0.607000													17	20					0	0	0.004990	0	0
PET112	5188	broad.mit.edu	37	4	152679989	152679989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:152679989G>A	ENST00000263985.6	-	2	302	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	PET112_ENST00000512306.1_Missense_Mutation_p.R88C|PET112_ENST00000515812.1_Missense_Mutation_p.R88C|PET112_ENST00000508611.1_Missense_Mutation_p.R88C	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	88						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTGAAAAGCGAACTTGAGAT	0.383000													59	79					0	0	0.003610	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105967543	105967543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:105967543C>T	ENST00000278618.4	+	6	1061	c.839C>T	c.(838-840)tCt>tTt	p.S280F	RP11-677I18.3_ENST00000532422.1_RNA|RP11-677I18.3_ENST00000527594.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	280					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		TTAATGTCATCTGCCGTTCCC	0.378000													28	39					0	0	0.001061	0	0
IFNLR1	163702	broad.mit.edu	37	1	24507323	24507323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:24507323G>A	ENST00000327535.1	-	2	92	c.80C>T	c.(79-81)cCc>cTc	p.P27L	IFNLR1_ENST00000374421.3_Missense_Mutation_p.P27L|IFNLR1_ENST00000374419.1_5'UTR|IFNLR1_ENST00000327575.2_Missense_Mutation_p.P27L|IFNLR1_ENST00000374418.3_Missense_Mutation_p.P27L	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CACATTCTGGGGAGGGGCCAG	0.607000													20	24					0	0	0.001216	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41454995	41454995	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:41454995G>A	ENST00000599198.1	+	0	1386					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TTGCCCGTGCGGAATTGTTCC	0.582000													11	17					0	0	0.001855	0	0
GATA2	2624	broad.mit.edu	37	3	128200680	128200680	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:128200680G>A	ENST00000341105.2	-	5	1456	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.L361L|GATA2_ENST00000487848.1_Silent_p.L375L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	375					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GCTTGTAGTAGAGGCCACAGG	0.647000			Mis		AML(CML blast transformation)								11	21					0	0	0.000978	0	0
PSG1	5669	broad.mit.edu	37	19	43382358	43382358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43382358G>A	ENST00000244296.2	-	2	274	c.137C>T	c.(136-138)tCc>tTc	p.S46F	PSG1_ENST00000436291.2_Missense_Mutation_p.S46F|PSG1_ENST00000595356.1_Missense_Mutation_p.S46F|PSG1_ENST00000403380.3_Missense_Mutation_p.S46F|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Missense_Mutation_p.S46F|PSG1_ENST00000595124.1_Missense_Mutation_p.S46F	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				CTTCCCCTCGGAAACTTTGGT	0.478000													75	102					0	0	0.003610	0	0
COL21A1	81578	broad.mit.edu	37	6	56033060	56033060	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:56033060G>A	ENST00000244728.5	-	6	1459	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	COL21A1_ENST00000370819.1_Silent_p.L354L|COL21A1_ENST00000535941.1_Silent_p.L354L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	354	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGTTACTAAGAGACGAATTT	0.358000													9	8					0	0	0.000673	0	0
PLCE1	51196	broad.mit.edu	37	10	96058370	96058370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96058370C>T	ENST00000260766.3	+	24	6036	c.5402C>T	c.(5401-5403)cCc>cTc	p.P1801L	PLCE1_ENST00000371385.3_Missense_Mutation_p.P1493L|PLCE1_ENST00000371375.1_Missense_Mutation_p.P1493L|PLCE1_ENST00000371380.2_Missense_Mutation_p.P1801L	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1801	PI-PLC Y-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AACCCGAACCCCCTCATGTTC	0.552000													31	58					0	0	0.002445	0	0
PRDM10	56980	broad.mit.edu	37	11	129772410	129772410	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:129772410C>T	ENST00000358825.5	-	22	3512	c.3279_splice	c.e22-1	p.G1094_splice	PRDM10_ENST00000360871.3_Splice_Site_p.G1090_splice|PRDM10_ENST00000528746.1_Splice_Site_p.G1051_splice|PRDM10_ENST00000526082.1_Splice_Site_p.G1008_splice|PRDM10_ENST00000423662.2_Splice_Site_p.G995_splice|PRDM10_ENST00000304538.6_Splice_Site_p.G957_splice	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CACATAATGACCCTAGAGGAA	0.478000													6	15					0	0	0.001168	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621241	41621241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:41621241G>A	ENST00000313860.7	+	8	773	c.719G>A	c.(718-720)cGg>cAg	p.R240Q	LIMCH1_ENST00000503057.1_Missense_Mutation_p.R81Q|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R86Q|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R86Q|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R81Q|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R240Q|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R240Q|LIMCH1_ENST00000514096.1_Missense_Mutation_p.R93Q|LIMCH1_ENST00000509638.1_Missense_Mutation_p.R81Q|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R240Q|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R86Q|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R240Q|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R81Q|LIMCH1_ENST00000509454.1_Missense_Mutation_p.R88Q	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	240					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTGCCTCATCGGAAGCTGCCA	0.507000													90	136					0	0	0.003610	0	0
ZNF391	346157	broad.mit.edu	37	6	27368397	27368397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:27368397C>T	ENST00000244576.4	+	3	793	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGACATGGATCCCCAATATCT	0.373000													21	40					0	0	0.001882	0	0
FLG	2312	broad.mit.edu	37	1	152279872	152279872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152279872G>A	ENST00000368799.1	-	3	7525	c.7490C>T	c.(7489-7491)tCc>tTc	p.S2497F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2497	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTCCCTGGGATGTGGTGTG	0.557000									Ichthyosis				88	177					0	0	0.003610	0	0
CCR9	10803	broad.mit.edu	37	3	45942944	45942944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:45942944G>A	ENST00000357632.2	+	3	844	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	CCR9_ENST00000395963.2_Missense_Mutation_p.G210R|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.G210R	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	222					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGTCATTCTGGGGTTCTTCCT	0.483000													38	35					0	0	0.001485	0	0
WFDC13	164237	broad.mit.edu	37	20	44334534	44334534	+	Missense_Mutation	SNP	C	C	T	rs143587653		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44334534C>T	ENST00000305479.2	+	3	380	c.272C>T	c.(271-273)cCt>cTt	p.P91L		NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	91						extracellular region	peptidase inhibitor activity			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				GTCATCATGCCTGCCAACTGA	0.363000													42	31					0	0	0.003610	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90211735	90211735	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:90211735G>A	ENST00000390277.2	+	0	93																											GACCCAGACGGAACCATGGAA	0.572000													18	36					0	0	0.001882	0	0
NOM1	64434	broad.mit.edu	37	7	156752583	156752583	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:156752583C>T	ENST00000275820.3	+	4	1362	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	449	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAGGAAGTTCGATGCCATCT	0.453000													38	23					0	0	0.002522	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034620	9034620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9034620G>A	ENST00000383836.3	-	20	2955	c.2528C>T	c.(2527-2529)tCg>tTg	p.S843L	SRGAP3_ENST00000360413.3_Missense_Mutation_p.S819L	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	843					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCCGTAATCCGAGATGTGCTC	0.557000			T	RAF1	pilocytic astrocytoma								12	36					0	0	0.001368	0	0
FXYD6	53826	broad.mit.edu	37	11	117711058	117711058	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117711058C>A	ENST00000526014.1	-	6	830	c.235G>T	c.(235-237)Gtg>Ttg	p.V79L	FXYD6_ENST00000540359.1_Missense_Mutation_p.V79L|FXYD6_ENST00000524656.1_Missense_Mutation_p.V79L|FXYD6_ENST00000584230.1_Missense_Mutation_p.V79L|FXYD6_ENST00000583233.1_5'UTR|FXYD6_ENST00000529335.2_Splice_Site|FXYD6_ENST00000539526.1_Missense_Mutation_p.V79L|FXYD6-FXYD2_ENST00000532984.1_Missense_Mutation_p.R66S|FXYD6_ENST00000584394.1_Intron|FXYD6_ENST00000260282.4_Missense_Mutation_p.V79L|FXYD6_ENST00000527717.1_Missense_Mutation_p.V79L|FXYD6_ENST00000530956.1_Missense_Mutation_p.V79L|FXYD6_ENST00000527429.1_Missense_Mutation_p.V79L	NM_022003.3	NP_071286.1			FXYD domain containing ion transport regulator 6											central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		AGGTTCTCCACCTGGGCTTCC	0.587000													15	38					4.96729e-08	9.2797e-08	0.001216	1	0
MPHOSPH10	10199	broad.mit.edu	37	2	71377037	71377037	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71377037C>T	ENST00000244230.2	+	11	2290	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	646					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CTCAAGCATTCTTTTCTAAAT	0.303000													57	65					0	0	0.003610	0	0
OR4C11	219429	broad.mit.edu	37	11	55371018	55371018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55371018G>A	ENST00000302231.4	-	1	856	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTGAGAAAGGGTGTTCCAATA	0.398000													35	26					0	0	0.003755	0	0
ELP3	55140	broad.mit.edu	37	8	28017869	28017869	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:28017869T>A	ENST00000256398.8	+	13	1758	c.1381T>A	c.(1381-1383)Ttc>Atc	p.F461I	ELP3_ENST00000521015.1_Missense_Mutation_p.F447I|ELP3_ENST00000524103.1_Missense_Mutation_p.F389I|ELP3_ENST00000380353.4_Missense_Mutation_p.F369I|ELP3_ENST00000542181.1_Missense_Mutation_p.F332I|ELP3_ENST00000537665.1_Missense_Mutation_p.F342I	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	461	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGAAGAAACTTTCCGTTTCGA	0.473000													33	9					0	0	0.002836	0	0
BCL9	607	broad.mit.edu	37	1	147091892	147091892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:147091892C>T	ENST00000234739.3	+	8	2671	c.1931C>T	c.(1930-1932)cCc>cTc	p.P644L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	644	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CTGGGTCTCCCCCCAGGGATG	0.572000			T	"""IGH@, IGL@"""	B-ALL								20	26					0	0	0.001523	0	0
ROS1	6098	broad.mit.edu	37	6	117662563	117662563	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117662563C>T	ENST00000368508.3	-	29	5100	c.4902_splice	c.e29+1	p.K1634_splice	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site_p.K1628_splice	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1634	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTCACTGTACCTTTAACACAT	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								26	42					0	0	0.004656	0	0
CACNA1D	776	broad.mit.edu	37	3	53769521	53769521	+	Silent	SNP	C	C	T	rs147601660	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:53769521C>T	ENST00000288139.3	+	21	2920	c.2802C>T	c.(2800-2802)ttC>ttT	p.F934F	CACNA1D_ENST00000422281.2_Silent_p.F914F|CACNA1D_ENST00000350061.5_Silent_p.F914F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	914					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCCACTCCTTCCGGAACACGG	0.617000													14	17					0	0	0.002450	0	0
CADM3	57863	broad.mit.edu	37	1	159170642	159170642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159170642C>T	ENST00000368125.4	+	9	1284	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Missense_Mutation_p.A410V|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	376					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GCTCCAGACGCGGACACGGCC	0.582000													30	56					0	0	0.004289	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871984	51871984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:51871984G>A	ENST00000371497.5	+	2	2874	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.E660K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.E660K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	663					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAGGGCAGCGAGAAGGAGAA	0.597000													9	45					0	0	0.000443	0	0
CDH12	1010	broad.mit.edu	37	5	21975486	21975486	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:21975486G>A	ENST00000382254.1	-	6	1326	c.240C>T	c.(238-240)tcC>tcT	p.S80S	CDH12_ENST00000504376.2_Silent_p.S80S|CDH12_ENST00000522262.1_Silent_p.S80S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	80	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGTCTAAGTCGGAATGGAGCT	0.443000										HNSCC(59;0.17)			6	84					0	0	0.001984	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838527	43838527	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:43838527C>T	ENST00000319294.6	+	7	886	c.855C>T	c.(853-855)ttC>ttT	p.F285F	UBASH3A_ENST00000398367.1_Silent_p.F247F|UBASH3A_ENST00000291535.6_Silent_p.F247F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	285	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GAGCCCTATTCCAGTACAAAC	0.532000													43	57					0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870568	140870568	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140870568C>A	ENST00000252087.1	+	1	1761	c.1761C>A	c.(1759-1761)tcC>tcA	p.S587S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		587	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGGCTCCTTGGTCACCA	0.612000													18	3					6.94344e-10	1.29919e-09	0.006122	1	0
FLG2	388698	broad.mit.edu	37	1	152323669	152323669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152323669C>T	ENST00000388718.5	-	3	6665	c.6593G>A	c.(6592-6594)gGa>gAa	p.G2198E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2198							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)			GTGAGTGTGTCCTGAATGTGT	0.517000													91	89					0	0	0.003610	0	0
BPIFC	254240	broad.mit.edu	37	22	32829741	32829741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:32829741G>A	ENST00000397452.1	-	10	1053	c.943C>T	c.(943-945)Caa>Taa	p.Q315*	BPIFC_ENST00000432451.2_Nonsense_Mutation_p.Q129*|BPIFC_ENST00000534972.1_Nonsense_Mutation_p.Q39*|BPIFC_ENST00000300399.3_Nonsense_Mutation_p.Q315*			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	315						extracellular region	lipopolysaccharide binding|phospholipid binding										TGAGAGTTTTGAACAAAATGG	0.408000													28	31					0	0	0.002445	0	0
NCEH1	57552	broad.mit.edu	37	3	172351766	172351766	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:172351766G>A	ENST00000475381.1	-	5	959	c.726C>T	c.(724-726)atC>atT	p.I242I	NCEH1_ENST00000543711.1_Silent_p.I109I|NCEH1_ENST00000538775.1_Silent_p.I282I|NCEH1_ENST00000273512.3_Silent_p.I274I			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	242					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGCGGGGCAGGATTGGGGTGT	0.393000													13	34					0	0	0.002450	0	0
CSMD1	64478	broad.mit.edu	37	8	3265514	3265514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:3265514G>A	ENST00000602557.1	-	15	2536	c.1981C>T	c.(1981-1983)Cct>Tct	p.P661S	CSMD1_ENST00000602723.1_Missense_Mutation_p.P661S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P660S|CSMD1_ENST00000520002.1_Missense_Mutation_p.P661S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P660S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P660S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P661S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	661	CUB 4.					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)		AGCTGGGAAGGCACTTCATTG	0.458000													14	3					0	0	0.002450	0	0
NLRP3	114548	broad.mit.edu	37	1	247588671	247588671	+	Silent	SNP	C	C	T	rs34698071	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247588671C>T	ENST00000366497.2	+	4	2706	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	NLRP3_ENST00000391828.3_Silent_p.F642F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Silent_p.F642F|NLRP3_ENST00000391827.2_Silent_p.F642F|NLRP3_ENST00000336119.3_Silent_p.F642F|NLRP3_ENST00000366496.2_Silent_p.F642F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	642					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAGGACTTCGTGCAAAGGG	0.468000													14	25					0	0	0.001855	0	0
C16orf78	123970	broad.mit.edu	37	16	49412446	49412446	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:49412446G>A	ENST00000299191.3	+	3	453	c.336G>A	c.(334-336)aaG>aaA	p.K112K		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	112										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGGAGCAAAAGGGGAAACACC	0.562000													9	14					0	0	0.000673	0	0
PCDH17	27253	broad.mit.edu	37	13	58207617	58207617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:58207617G>A	ENST00000377918.3	+	1	963	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	313	Cadherin 3.				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)		GGACTATGAGGAAAACGGGAT	0.587000													12	19					0	0	0.001368	0	0
ZNF256	10172	broad.mit.edu	37	19	58452658	58452658	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58452658G>A	ENST00000282308.3	-	3	1714	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	506					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGTGTTGAAGGAGCGTAGAGC	0.453000													21	34					0	0	0.002299	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776596	77776596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77776596C>T	ENST00000521891.2	+	11	11094	c.10646C>T	c.(10645-10647)tCc>tTc	p.S3549F	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3523F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3500F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3504F	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3500						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)			CCTTCCCTTTCCTTGCCTTCA	0.507000										HNSCC(33;0.089)			25	70					0	0	0.003330	0	0
POU4F2	5458	broad.mit.edu	37	4	147561703	147561703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:147561703G>A	ENST00000281321.3	+	2	1221	c.973G>A	c.(973-975)Gag>Aag	p.E325K		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	325	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ATGGCTCGAGGAGGCCGAGAA	0.597000													19	35					0	0	0.001882	0	0
SLC2A5	6518	broad.mit.edu	37	1	9107682	9107682	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:9107682C>T	ENST00000377424.4	-	4	584	c.405G>A	c.(403-405)gtG>gtA	p.V135V	SLC2A5_ENST00000377414.3_Silent_p.V135V|SLC2A5_ENST00000535586.1_Silent_p.V20V|SLC2A5_ENST00000536305.1_Silent_p.V76V	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	135					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CACATATTCCCACCAAAAGTC	0.448000													48	109					0	0	0.003610	0	0
RPTOR	57521	broad.mit.edu	37	17	78796094	78796094	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:78796094C>T	ENST00000306801.3	+	8	1346	c.984C>T	c.(982-984)ctC>ctT	p.L328L	RPTOR_ENST00000537330.1_Silent_p.L143L|RPTOR_ENST00000570891.1_Silent_p.L328L|RPTOR_ENST00000544334.2_Silent_p.L328L|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	328					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGAACGTGCTCCCCCGGGGTG	0.642000													84	14					0	0	0.003610	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907220	164907220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:164907220C>T	ENST00000475390.1	-	2	1842	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D467N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	467						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTCTCTATATCGTTGCCATTA	0.468000										HNSCC(40;0.11)			18	21					0	0	0.000958	0	0
LEFTY1	10637	broad.mit.edu	37	1	226075259	226075259	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:226075259G>A	ENST00000272134.5	-	3	656	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.A301V	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	193					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GGCTGCCGGGGCCGGCTCAGC	0.687000													12	10					0	0	0.004007	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999863	45999863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:45999863G>A	ENST00000400372.1	-	1	618	c.593C>T	c.(592-594)tCa>tTa	p.S198L	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	198	22 X 5 AA repeats of C-C-X(3).					keratin filament		p.S198*(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGGCAGCATGAAGTGGAAGC	0.632000													43	74					0	0	0.002852	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852429	31852429	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:31852429C>T	ENST00000390689.2	-	1	234	c.208G>A	c.(208-210)Ggc>Agc	p.G70S		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	70	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TATCCATAGCCTCCAAAGCCA	0.498000													71	125					0	0	0.003610	0	0
MSLNL	401827	broad.mit.edu	37	16	820106	820106	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:820106G>A	ENST00000293892.3	-	15	2878	c.2879C>T	c.(2878-2880)cCc>cTc	p.P960L	MSLNL_ENST00000442466.1_Missense_Mutation_p.P609L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	609					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTGGTGCTGGGGGGCCCCCT	0.731000													4	6					0	0	0.000248	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110030402	110030402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:110030402C>T	ENST00000369870.3	+	5	691	c.676C>T	c.(676-678)Cct>Tct	p.P226S		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	226										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CAGGCTGCCCCCTAAAACCCA	0.587000													77	89					0	0	0.003610	0	0
SART3	9733	broad.mit.edu	37	12	108930558	108930558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:108930558G>A	ENST00000228284.3	-	10	1547	c.1313C>T	c.(1312-1314)tCc>tTc	p.S438F	SART3_ENST00000431469.2_Missense_Mutation_p.S402F	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	438					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTCTTTACTGGAGTCTAACGG	0.473000									Porokeratosis				13	19					0	0	0.001855	0	0
ABCD2	225	broad.mit.edu	37	12	39980074	39980074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:39980074G>A	ENST00000308666.3	-	7	1807	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	558	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ACTTGATCCCGAAGACTTCCA	0.398000													30	41					0	0	0.002096	0	0
OR1E1	8387	broad.mit.edu	37	17	3301102	3301102	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:3301102G>A	ENST00000322608.2	-	1	602	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GCCCTCCCATGATAAATATCA	0.458000													32	6					0	0	0.005524	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362759	49362759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49362759G>A	ENST00000263265.6	-	7	1214	c.659C>T	c.(658-660)tCt>tTt	p.S220F	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.S220F|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	220	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding	p.S220C(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTGGAGTCCAGAGTGGAGGTC	0.632000													14	18					0	0	0.004007	0	0
ALLC	55821	broad.mit.edu	37	2	3721680	3721680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:3721680G>A	ENST00000252505.3	+	3	211	c.49G>A	c.(49-51)Gat>Aat	p.D17N		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	36							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ATTTGCAACAGATGACTTTTT	0.323000										HNSCC(21;0.051)			7	4					0	0	0.004482	0	0
OR6C3	254786	broad.mit.edu	37	12	55726216	55726216	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55726216C>T	ENST00000379667.1	+	1	732	c.732C>T	c.(730-732)gtC>gtT	p.V244V		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ACATGATTGTCATTTCCATTT	0.353000													21	34					0	0	0.001523	0	0
ATP4A	495	broad.mit.edu	37	19	36046215	36046215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36046215C>T	ENST00000262623.3	-	15	2207	c.2179G>A	c.(2179-2181)Ggg>Agg	p.G727R		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	727					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	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)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ACACCATCCCCCGTGACGGCC	0.622000													16	22					0	0	0.004990	0	0
SLC4A11	83959	broad.mit.edu	37	20	3218250	3218250	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:3218250A>T	ENST00000380056.3	-	1	123	c.76T>A	c.(76-78)Tct>Act	p.S26T	SLC4A11_ENST00000380059.3_Intron|SLC4A11_ENST00000539553.1_Intron|SLC4A11_ENST00000474451.1_Intron	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	26					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGGGAAGCAGAAAGGTCACCA	0.577000													5	44					0	0	0.001984	0	0
TCF4	6925	broad.mit.edu	37	18	52921913	52921913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:52921913G>A	ENST00000354452.3	-	15	1776	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	TCF4_ENST00000398339.1_Missense_Mutation_p.R491C|TCF4_ENST00000564999.1_Missense_Mutation_p.R389C|TCF4_ENST00000568673.1_Missense_Mutation_p.R365C|TCF4_ENST00000564403.2_Missense_Mutation_p.R395C|TCF4_ENST00000561992.1_Missense_Mutation_p.R259C|TCF4_ENST00000457482.3_Missense_Mutation_p.R229C|TCF4_ENST00000570287.2_Missense_Mutation_p.R229C|TCF4_ENST00000561831.3_Missense_Mutation_p.R229C|TCF4_ENST00000544241.2_Missense_Mutation_p.R318C|TCF4_ENST00000543082.1_Missense_Mutation_p.R347C|TCF4_ENST00000537578.1_Missense_Mutation_p.R365C|TCF4_ENST00000564228.1_Missense_Mutation_p.R318C|TCF4_ENST00000540999.1_Missense_Mutation_p.R365C|TCF4_ENST00000565018.2_Missense_Mutation_p.R389C|TCF4_ENST00000570177.2_Missense_Mutation_p.R259C|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566286.1_Missense_Mutation_p.R386C|TCF4_ENST00000566279.1_Missense_Mutation_p.R329C|TCF4_ENST00000537856.3_Missense_Mutation_p.R259C|TCF4_ENST00000567880.1_Missense_Mutation_p.R329C|TCF4_ENST00000568740.1_Missense_Mutation_p.R364C|TCF4_ENST00000356073.4_Missense_Mutation_p.R389C	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	389	Leucine-zipper.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTTTCTAAACGATCTTCAATT	0.403000													7	3					0	0	0.004482	0	0
HPS1	3257	broad.mit.edu	37	10	100177480	100177480	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:100177480C>T	ENST00000325103.6	-	20	2177	c.1944G>A	c.(1942-1944)aaG>aaA	p.K648K	HPS1_ENST00000361490.4_Silent_p.K648K|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	648					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCGCAGGAGCTTCCTGGGGA	0.637000									Hermansky-Pudlak syndrome				16	13					0	0	0.004990	0	0
LY9	4063	broad.mit.edu	37	1	160766023	160766023	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160766023T>A	ENST00000263285.5	+	1	76	c.46T>A	c.(46-48)Ttc>Atc	p.F16I	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.F16I|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.F16I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	16					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCTGGGCCTTTCTCCAGTAA	0.498000													32	80					0	0	0.002096	0	0
ATG2A	23130	broad.mit.edu	37	11	64662858	64662858	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64662858G>A	ENST00000421419.2	-	40	5604	c.5490C>T	c.(5488-5490)tcC>tcT	p.S1830S	ATG2A_ENST00000377264.3_Silent_p.S1828S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1828							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TATCCTGCAGGGAGCGGGAGA	0.682000													13	12					0	0	0.001855	0	0
DPPA3	359787	broad.mit.edu	37	12	7867799	7867799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7867799G>A	ENST00000345088.2	+	2	220	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	35						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		AATCTCCTCCGAGACGTTGAT	0.458000													58	71					0	0	0.003610	0	0
PLCB1	23236	broad.mit.edu	37	20	8639267	8639267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:8639267G>A	ENST00000378641.3	+	9	1253	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	PLCB1_ENST00000338037.6_Missense_Mutation_p.E260K|PLCB1_ENST00000378637.2_Missense_Mutation_p.E260K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	260					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCGGCTTAATGAAATACTTTA	0.383000													7	47					0	0	0.001984	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750737	140750737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140750737C>T	ENST00000576222.1	+	1	907	c.776C>T	c.(775-777)tCc>tTc	p.S259F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCTGGCTCCTCCGTATTA	0.468000													30	17					0	0	0.002096	0	0
IQSEC3	440073	broad.mit.edu	37	12	278180	278180	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:278180G>A	ENST00000538872.1	+	12	3091	c.2971_splice	c.e12-1	p.W991_splice	RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000382841.2_Splice_Site_p.W688_splice|IQSEC3_ENST00000326261.4_Splice_Site_p.W991_splice			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	991					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		ATTCCTTAGGGGAGCTGGAGA	0.587000													33	34					0	0	0.004878	0	0
FGD5	152273	broad.mit.edu	37	3	14861823	14861823	+	Silent	SNP	C	C	T	rs112305534	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14861823C>T	ENST00000285046.5	+	1	1355	c.1245C>T	c.(1243-1245)gtC>gtT	p.V415V	FGD5_ENST00000543601.1_Silent_p.V174V	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	415					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ATGTGGTGGTCGTGCTGGAGG	0.677000													10	18					0	0	0.000443	0	0
FMN2	56776	broad.mit.edu	37	1	240497240	240497240	+	Silent	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:240497240T>C	ENST00000319653.9	+	12	4868	c.4638T>C	c.(4636-4638)ttT>ttC	p.F1546F	FMN2_ENST00000545751.1_Silent_p.F142F	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1546	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCGAAATTTTGATGAGGTAA	0.299000													7	43					0	0	0.001984	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974679	21974679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:21974679G>A	ENST00000304494.5	-	1	418	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.Q50*|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.Q50*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	50			Q -> R (in CMM2).		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.?(25)|p.Q50*(4)|p.0(1)|p.V28_V51del(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)		CTACCCACCTGGATCGGCCTC	0.682000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			86	57					0	0	0.003610	0	0
SCN9A	6335	broad.mit.edu	37	2	167142872	167142872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167142872C>T	ENST00000303354.6	-	11	1919	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	SCN9A_ENST00000375387.4_Missense_Mutation_p.E527K|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.E526K|SCN9A_ENST00000409435.1_Missense_Mutation_p.E526K			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	526						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACCTCTTTTCATGTGCTCGC	0.438000													81	148					0	0	0.003610	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841976	8841976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8841976G>A	ENST00000324060.2	+	1	661	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTGCCTACGAGATGGCGCT	0.567000													38	38					0	0	0.004878	0	0
INF2	64423	broad.mit.edu	37	14	105177966	105177966	+	Splice_Site	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:105177966G>T	ENST00000392634.4	+	16	2531	c.2418_splice	c.e16-1	p.E807_splice	INF2_ENST00000330634.7_Splice_Site_p.E807_splice	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	807	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCATTGCAGGAAGCGGAAAA	0.617000													18	7					5.35356e-11	1.0023e-10	0.002780	1	0
CDH6	1004	broad.mit.edu	37	5	31267717	31267717	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:31267717A>T	ENST00000514738.1	+	0	402				RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000265071.2_Missense_Mutation_p.N46I			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACAGCAAAAATGAGCTGAAC	0.488000													6	86					0	0	0.004482	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843016	16843016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:16843016C>T	ENST00000437538.2	-	4	597	c.589G>A	c.(589-591)Gag>Aag	p.E197K	TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.E197K|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.E243K			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	243					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						ACTGCGCTCTCCTGCGTGGGC	0.662000									IgA Deficiency, Selective				25	3					0	0	0.003330	0	0
TGM6	343641	broad.mit.edu	37	20	2384129	2384129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:2384129C>T	ENST00000202625.2	+	8	1137	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	TGM6_ENST00000381423.1_Missense_Mutation_p.P359L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	359					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GATGCCACCCCCCAGGAGGAG	0.582000													19	6					0	0	0.000958	0	0
LARS2	23395	broad.mit.edu	37	3	45500238	45500238	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:45500238C>T	ENST00000415258.1	+	7	751	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	LARS2_ENST00000414984.1_Silent_p.L161L|LARS2_ENST00000265537.3_Silent_p.L204L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	204					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TATACAGGCCCTGGTTAACTG	0.483000													13	22					0	0	0.002450	0	0
HECW1	23072	broad.mit.edu	37	7	43484484	43484484	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:43484484C>T	ENST00000395891.1	+	11	2318	c.1713C>T	c.(1711-1713)ccC>ccT	p.P571P	HECW1_ENST00000453890.1_Silent_p.P571P	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	571					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACAGCATGCCCTCCGCCCAGG	0.687000													24	17					0	0	0.005443	0	0
SULT1C2	6819	broad.mit.edu	37	2	108910803	108910803	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108910803A>G	ENST00000326853.5	+	3	723	c.270A>G	c.(268-270)caA>caG	p.Q90Q	SULT1C2_ENST00000409880.1_Silent_p.Q90Q|SULT1C2_ENST00000251481.6_Silent_p.Q90Q|SULT1C2_ENST00000437390.2_Silent_p.Q90Q	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	90					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGCCACCCCAACCTTCTGGTG	0.502000													35	33					0	0	0.004878	0	0
OR10J1	26476	broad.mit.edu	37	1	159410223	159410223	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159410223C>T	ENST00000423932.3	+	1	712	c.675C>T	c.(673-675)ttC>ttT	p.F225F	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	225					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					GTCTGGTTTTCATTTCTTATG	0.463000													51	76					0	0	0.003610	0	0
EDNRA	1909	broad.mit.edu	37	4	148406837	148406837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:148406837G>A	ENST00000324300.5	+	2	519	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	EDNRA_ENST00000339690.5_Missense_Mutation_p.E2K|EDNRA_ENST00000506066.1_Missense_Mutation_p.E2K|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000358556.4_Missense_Mutation_p.E2K	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	2					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CCTCAAGATGGAAACCCTTTG	0.388000													22	39					0	0	0.003330	0	0
ITGAL	3683	broad.mit.edu	37	16	30486649	30486649	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:30486649G>A	ENST00000356798.6	+	3	367	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.E63K|ITGAL_ENST00000454514.2_Missense_Mutation_p.E63K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	63					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGCTCCAGGGGAGGGGAACAG	0.597000													33	67					0	0	0.004878	0	0
MTBP	27085	broad.mit.edu	37	8	121457755	121457755	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121457755C>T	ENST00000305949.1	+	1	90	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	15					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGGAAAATTCCCGTCGGCGG	0.592000													49	25					0	0	0.003610	0	0
SPATA25	128497	broad.mit.edu	37	20	44515224	44515224	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44515224G>T	ENST00000372519.3	-	2	660	c.616C>A	c.(616-618)Cac>Aac	p.H206N		NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN	spermatogenesis associated 25	206						integral to membrane											GAGGCTGTGTGGGCATGTGCC	0.597000													7	127					0.00448238	0.00831004	0.004482	1	0
THBS1	7057	broad.mit.edu	37	15	39874921	39874921	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39874921A>T	ENST00000260356.5	+	3	760	c.595A>T	c.(595-597)Atc>Ttc	p.I199F		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	199	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAGACTCCGCATCGCAAAGGG	0.567000													9	24					0	0	0.000443	0	0
SOX10	6663	broad.mit.edu	37	22	38373922	38373922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:38373922G>A	ENST00000396884.2	-	3	931	c.649C>T	c.(649-651)Cca>Tca	p.P217S	SOX10_ENST00000360880.2_Missense_Mutation_p.P217S|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	217						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CCCTCTCCTGGGTGCCGGTGG	0.687000													8	11					0	0	0.003080	0	0
KTN1	3895	broad.mit.edu	37	14	56134036	56134036	+	Silent	SNP	C	C	T	rs144185879		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:56134036C>T	ENST00000416613.1	+	33	3327	c.3255C>T	c.(3253-3255)gtC>gtT	p.V1085V	KTN1_ENST00000554507.1_Silent_p.V351V|KTN1_ENST00000395314.3_Silent_p.V1085V|KTN1_ENST00000438792.2_Silent_p.V1056V|KTN1_ENST00000395309.3_Silent_p.V1085V|KTN1_ENST00000413890.2_Silent_p.V1062V|KTN1_ENST00000555573.1_Silent_p.V90V|KTN1_ENST00000395311.1_Silent_p.V1062V|KTN1_ENST00000395308.1_Silent_p.V1062V			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1085					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGGTGTCTGTCCCTTCTAATT	0.358000			T	RET	papillary thryoid								69	18					0	0	0.003610	0	0
PLCH2	9651	broad.mit.edu	37	1	2428417	2428417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:2428417C>T	ENST00000449969.1	+	15	2164	c.2003C>T	c.(2002-2004)cCg>cTg	p.P668L	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.P695L|PLCH2_ENST00000378486.3_Missense_Mutation_p.P695L|PLCH2_ENST00000378488.3_Missense_Mutation_p.P695L|PLCH2_ENST00000378483.2_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	695	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AACTACAACCCGCAGCCCTTC	0.642000													7	10					0	0	0.004482	0	0
SCN3A	6328	broad.mit.edu	37	2	165970408	165970408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:165970408C>T	ENST00000360093.3	-	20	4078	c.3587G>A	c.(3586-3588)cGa>cAa	p.R1196Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.R1196Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.R1147Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1196						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)	GCAGGTTTTTCGAAGATTCCA	0.343000													32	75					0	0	0.004289	0	0
POTEC	388468	broad.mit.edu	37	18	14542690	14542690	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:14542690G>A	ENST00000358970.5	-	1	455	c.456C>T	c.(454-456)gtC>gtT	p.V152V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	152										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCTTTCTGGGGACCTTACCCC	0.582000													39	87					0	0	0.002522	0	0
KCNQ5	56479	broad.mit.edu	37	6	73900323	73900323	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:73900323G>A	ENST00000342056.2	+	13	2060	c.1662G>A	c.(1660-1662)cgG>cgA	p.R554R	KCNQ5_ENST00000403813.2_Silent_p.R526R|KCNQ5_ENST00000355635.3_Silent_p.R536R|KCNQ5_ENST00000355194.4_Silent_p.R535R|KCNQ5_ENST00000414165.2_Silent_p.R425R|KCNQ5_ENST00000402622.2_Silent_p.R545R|KCNQ5_ENST00000370398.1_Silent_p.R535R	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	535					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTGCAAAACGGAAGTTTAAGG	0.289000													20	18					0	0	0.000958	0	0
OR6F1	343169	broad.mit.edu	37	1	247875599	247875599	+	Silent	SNP	G	G	A	rs144440883	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247875599G>A	ENST00000302084.2	-	1	506	c.459C>T	c.(457-459)ttC>ttT	p.F153F	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F153L(1)|p.F153F(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CAATGGCCACGAAACCACACA	0.587000													37	25					0	0	0.005524	0	0
TLN2	83660	broad.mit.edu	37	15	63128178	63128178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:63128178C>T	ENST00000561311.1	+	56	7510	c.7280C>T	c.(7279-7281)tCa>tTa	p.S2427L	RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Missense_Mutation_p.S2427L			Q9Y4G6	TLN2_HUMAN	talin 2	2427	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGCTCATCTCATCTGCCAAG	0.642000													11	14					0	0	0.000673	0	0
NOA1	84273	broad.mit.edu	37	4	57842646	57842646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:57842646G>A	ENST00000264230.4	-	1	2343	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	369							GTP binding										GATGGCCTCGGAGCCCTTGGC	0.607000													20	20					0	0	0.002299	0	0
EXT2	2132	broad.mit.edu	37	11	44146474	44146474	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:44146474C>T	ENST00000395673.3	+	5	1034	c.978C>T	c.(976-978)gtC>gtT	p.V326V	EXT2_ENST00000533608.1_Silent_p.V293V|EXT2_ENST00000343631.3_Silent_p.V293V|EXT2_ENST00000358681.4_Silent_p.V293V	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	293					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CAGAGGGTGTCCTTTCTGTCC	0.517000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				15	29					0	0	0.006122	0	0
ROS1	6098	broad.mit.edu	37	6	117674156	117674156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117674156G>A	ENST00000368508.3	-	26	4516	c.4318C>T	c.(4318-4320)Cca>Tca	p.P1440S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1434S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1440					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P1440S(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTATTACCTGGAAAAGGCTGC	0.443000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								22	41					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179411902	179411902	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179411902A>T	ENST00000589042.1	-	340	94574	c.94350T>A	c.(94348-94350)cgT>cgA	p.R31450R	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.R22385R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.R29809R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.R22510R|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.R28882R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.R22577R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29809	Fibronectin type-III 129.						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)			GAATTGTATTACGTTCTTTCT	0.413000													93	147					0	0	0.003610	0	0
LY75	4065	broad.mit.edu	37	2	160676288	160676288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:160676288C>T	ENST00000263636.4	-	29	4129	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	LY75_ENST00000554112.1_Missense_Mutation_p.E1368K|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E1368K|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E1368K|LY75_ENST00000553424.1_Missense_Mutation_p.E1368K	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TAAACTGCTTCTTCAATAACT	0.343000													44	90					0	0	0.003610	0	0
PPFIA2	8499	broad.mit.edu	37	12	81762949	81762949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81762949C>T	ENST00000550584.2	-	11	1586	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	PPFIA2_ENST00000552948.1_Missense_Mutation_p.E431K|PPFIA2_ENST00000541570.2_5'UTR|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E413K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E357K|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E332K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E431K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E278K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E413K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E431K|PPFIA2_ENST00000545296.2_Intron	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	357										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATACGTTCTTCAATATTTCCA	0.313000													22	22					0	0	0.003330	0	0
ZNF318	24149	broad.mit.edu	37	6	43308573	43308573	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:43308573A>T	ENST00000361428.2	-	9	3527	c.3450T>A	c.(3448-3450)tcT>tcA	p.S1150S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1150					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GTTGCTCCCCAGAAATTGGAT	0.418000													29	33					0	0	0.002445	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529560	5529560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5529560G>A	ENST00000311659.4	-	2	1376	c.1229C>T	c.(1228-1230)cCa>cTa	p.P410L	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	410										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAAAGCTGGGCAGGAGGA	0.547000													37	52					0	0	0.001951	0	0
RGL4	266747	broad.mit.edu	37	22	24037175	24037175	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:24037175A>T	ENST00000290691.5	+	6	2225	c.1055A>T	c.(1054-1056)gAc>gTc	p.D352V	RGL4_ENST00000401461.1_Missense_Mutation_p.D216V	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	352	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGCAAAAAAGACACTGCAGTG	0.453000													25	26					0	0	0.001061	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951702	30951702	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:30951702G>A	ENST00000402321.1	-	3	827	c.510C>T	c.(508-510)ttC>ttT	p.F170F	GAL3ST1_ENST00000338911.5_Silent_p.F170F|GAL3ST1_ENST00000443111.2_Silent_p.F170F|GAL3ST1_ENST00000406361.1_Silent_p.F170F|GAL3ST1_ENST00000401975.1_Silent_p.F170F|GAL3ST1_ENST00000406955.1_Silent_p.F170F|GAL3ST1_ENST00000402369.1_Silent_p.F170F			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	170					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGGAGGACTCGAACAAGCGGG	0.642000													22	32					0	0	0.003330	0	0
GPR112	139378	broad.mit.edu	37	X	135430785	135430785	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:135430785C>T	ENST00000394143.1	+	6	5211	c.4920C>T	c.(4918-4920)atC>atT	p.I1640I	GPR112_ENST00000394141.1_Silent_p.I1435I|GPR112_ENST00000287534.4_Silent_p.I1577I|GPR112_ENST00000412101.1_Silent_p.I1435I|GPR112_ENST00000370652.1_Silent_p.I1640I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1640					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTCCAGGATCACACCTACGA	0.453000													67	17					0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215809828	215809828	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:215809828C>T	ENST00000272895.7	-	49	7459	c.7239_splice	c.e49-1	p.D2414_splice	ABCA12_ENST00000389661.4_Splice_Site_p.D2096_splice|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2414	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCGGCTCATCCTTAATAGAA	0.363000													9	20					0	0	0.004482	0	0
POTEE	445582	broad.mit.edu	37	2	132021551	132021551	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:132021551C>T	ENST00000356920.5	+	15	2617	c.2523C>T	c.(2521-2523)tcC>tcT	p.S841S	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	841	Actin-like.						ATP binding										CCGTGCCGTCCCTGTACACCT	0.607000													42	90					0	0	0.003610	0	0
MYH7	4625	broad.mit.edu	37	14	23886092	23886092	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:23886092G>A	ENST00000355349.3	-	33	4791	c.4629C>T	c.(4627-4629)gcC>gcT	p.A1543A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1543					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCCTCCAGGGCTGACTGCA	0.597000													40	12					0	0	0.001706	0	0
ZACN	353174	broad.mit.edu	37	17	74075563	74075563	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:74075563G>A	ENST00000334586.5	+	2	224	c.141G>A	c.(139-141)caG>caA	p.Q47Q	ZACN_ENST00000392503.2_Silent_p.Q47Q	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	47					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGAAGGTTCAGGAAAGCATCC	0.527000													23	3					0	0	0.002780	0	0
RGS7	6000	broad.mit.edu	37	1	240969562	240969562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:240969562C>T	ENST00000366565.1	-	15	1528	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	RGS7_ENST00000366562.4_Missense_Mutation_p.E383K|RGS7_ENST00000331110.7_Missense_Mutation_p.E357K|RGS7_ENST00000366563.1_Missense_Mutation_p.E383K|RGS7_ENST00000366564.1_Missense_Mutation_p.E383K|RGS7_ENST00000446183.2_Missense_Mutation_p.E299K|RGS7_ENST00000348120.2_Missense_Mutation_p.E330K|RGS7_ENST00000407727.1_Missense_Mutation_p.E383K|RGS7_ENST00000401882.1_Missense_Mutation_p.E330K	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	383	RGS.				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)			TGCCATATTTCCTGAACTCTT	0.473000													56	40					0	0	0.003610	0	0
ABCA6	23460	broad.mit.edu	37	17	67132256	67132256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:67132256G>A	ENST00000284425.2	-	4	611	c.437C>T	c.(436-438)cCa>cTa	p.P146L	ABCA6_ENST00000590645.1_Missense_Mutation_p.P146L	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	146					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTCCAAAGTGGACTGTTATA	0.323000													22	4					0	0	0.005443	0	0
SQSTM1	8878	broad.mit.edu	37	5	179251261	179251261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:179251261G>A	ENST00000389805.4	+	4	789	c.611G>A	c.(610-612)gGa>gAa	p.G204E	SQSTM1_ENST00000376929.3_Missense_Mutation_p.G120E|SQSTM1_ENST00000360718.5_Missense_Mutation_p.G120E|SQSTM1_ENST00000510187.1_Missense_Mutation_p.G204E|SQSTM1_ENST00000402874.3_Missense_Mutation_p.G120E	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	204	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCCACCAGGAAACTGGAGC	0.622000													20	11					0	0	0.001523	0	0
C9orf106	414318	broad.mit.edu	37	9	132084114	132084114	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:132084114G>A	ENST00000316786.1	+	0	75							Q8NAJ2	CI106_HUMAN	chromosome 9 open reading frame 106											large_intestine(1)|lung(1)|ovary(1)|skin(1)	4		Ovarian(14;0.00556)|Medulloblastoma(224;0.235)				gGCCTTGAGCGATAAACCTCA	0.612000													34	2					0	0	0.004289	0	0
SERINC3	10955	broad.mit.edu	37	20	43142583	43142583	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:43142583G>A	ENST00000342374.4	-	2	295	c.138C>T	c.(136-138)ctC>ctT	p.L46L	SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000255175.1_Silent_p.L46L|SERINC3_ENST00000468234.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	46						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TGCTCAGGAGGAGAATGAAAG	0.438000													25	100					0	0	0.001786	0	0
CMYA5	202333	broad.mit.edu	37	5	79034938	79034938	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:79034938C>T	ENST00000446378.2	+	2	10381	c.10350C>T	c.(10348-10350)gtC>gtT	p.V3450V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3450						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGAAGATGTCTTATCTCAAG	0.408000													9	5					0	0	0.000443	0	0
MIA3	375056	broad.mit.edu	37	1	222802619	222802619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:222802619C>T	ENST00000344922.5	+	4	2082	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.S686F|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	686					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAAGAGGACTCCTTGGATGAA	0.478000													131	265					0	0	0.003610	0	0
PMFBP1	83449	broad.mit.edu	37	16	72188229	72188229	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72188229A>T	ENST00000537465.1	-	4	453	c.295T>A	c.(295-297)Ttt>Att	p.F99I	PMFBP1_ENST00000355636.6_5'UTR|PMFBP1_ENST00000237353.10_Missense_Mutation_p.F99I|PMFBP1_ENST00000543746.1_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	99										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TCTGTGTGAAACTCCAGTTCT	0.473000													37	54					0	0	0.004289	0	0
OR51A4	401666	broad.mit.edu	37	11	4967778	4967778	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4967778C>T	ENST00000380373.2	-	1	578	c.553G>A	c.(553-555)Gat>Aat	p.D185N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCATGACATCCTGGTGGAGA	0.408000													8	90					0	0	0.006122	0	0
PON1	5444	broad.mit.edu	37	7	94946066	94946066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:94946066C>T	ENST00000222381.3	-	3	412	c.181G>A	c.(181-183)Gga>Aga	p.G61R	PON1_ENST00000542556.1_Missense_Mutation_p.G61R	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	61					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AAAGCCAGTCCATTAGGCAGT	0.403000													51	130					0	0	0.003610	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617514	77617514	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77617514G>A	ENST00000521891.2	+	2	1639	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G	ZFHX4_ENST00000518282.1_Silent_p.G397G|ZFHX4_ENST00000050961.6_Silent_p.G397G|ZFHX4_ENST00000455469.2_Silent_p.G397G|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	397						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)			AGCCGCTGGGGATTACCCAAA	0.532000										HNSCC(33;0.089)			20	28					0	0	0.001523	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238628209	238628209	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:238628209C>T	ENST00000244815.5	+	3	437	c.198_splice	c.e3+1	p.S66_splice	LRRFIP1_ENST00000308482.9_Splice_Site_p.S98_splice|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Splice_Site_p.S66_splice	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	66					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	p.S66L(2)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGAAACACATCGGTTAGTACC	0.373000													14	21					0	0	0.002450	0	0
ZEB1	6935	broad.mit.edu	37	10	31809368	31809368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31809368C>T	ENST00000446923.2	+	7	1448	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S	ZEB1_ENST00000320985.10_Missense_Mutation_p.P369S|ZEB1_ENST00000542815.3_Missense_Mutation_p.P302S|ZEB1_ENST00000560721.2_Missense_Mutation_p.P349S|ZEB1_ENST00000361642.5_Missense_Mutation_p.P370S|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	369					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)				CTGTTCAACCCCTTTACAAAA	0.443000													13	24					0	0	0.001368	0	0
FBN3	84467	broad.mit.edu	37	19	8188379	8188379	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8188379G>A	ENST00000600128.1	-	24	3465	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F	FBN3_ENST00000601739.1_Silent_p.F1017F|FBN3_ENST00000270509.2_Silent_p.F1017F			Q75N90	FBN3_HUMAN	fibrillin 3	1017	EGF-like 12; calcium-binding.					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						CATCCAGGGCGAAGCCCCCCG	0.597000													9	12					0	0	0.004482	0	0
GBP3	2635	broad.mit.edu	37	1	89480310	89480310	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:89480310G>A	ENST00000370481.4	-	4	568	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	116						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CGGCCAGGGTGAAGATCCAGG	0.502000													43	52					0	0	0.003610	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212488	26212488	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:26212488G>A	ENST00000379034.1	+	2	674	c.525G>A	c.(523-525)gaG>gaA	p.E175E		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	175										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTGAAGATGAGGAAAGTGTAA	0.507000													21	4					0	0	0.001882	0	0
EPSTI1	94240	broad.mit.edu	37	13	43537394	43537394	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:43537394C>T	ENST00000313640.7	-	5	550	c.486G>A	c.(484-486)gaG>gaA	p.E162E	EPSTI1_ENST00000313624.7_Silent_p.E162E|EPSTI1_ENST00000476830.2_5'UTR|EPSTI1_ENST00000398762.3_Silent_p.E162E	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	162										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCCTTACCTTCTCTCTCTGAA	0.313000													49	45					0	0	0.003610	0	0
FAM83A	84985	broad.mit.edu	37	8	124195494	124195494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:124195494C>T	ENST00000518448.1	+	2	2412	c.398C>T	c.(397-399)tCc>tTc	p.S133F	FAM83A_ENST00000276699.6_Missense_Mutation_p.S133F|FAM83A_ENST00000318462.6_Missense_Mutation_p.S133F|FAM83A_ENST00000536633.1_Missense_Mutation_p.S133F|FAM83A_ENST00000546351.1_Missense_Mutation_p.S133F|FAM83A_ENST00000522648.1_Missense_Mutation_p.S133F			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	133										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGGAAAAATCCAGCGCCACT	0.607000													75	44					0	0	0.003610	0	0
NLRP8	126205	broad.mit.edu	37	19	56459354	56459354	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56459354T>A	ENST00000291971.3	+	1	157	c.86T>A	c.(85-87)tTc>tAc	p.F29Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.F29Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	29						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCTGGACATTCTCTTGCTAC	0.512000													23	37					0	0	0.002299	0	0
PDE1C	5137	broad.mit.edu	37	7	31855591	31855591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:31855591G>A	ENST00000396184.3	-	16	1964	c.1760C>T	c.(1759-1761)cCt>cTt	p.P587L	PDE1C_ENST00000396193.1_Missense_Mutation_p.P647L|PDE1C_ENST00000321453.7_Missense_Mutation_p.P587L|PDE1C_ENST00000396191.1_Missense_Mutation_p.P587L|PDE1C_ENST00000396182.2_Missense_Mutation_p.P587L|PDE1C_ENST00000479980.1_5'UTR	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	587					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTTCCCACGAGGGTTGTCACT	0.473000													57	128					0	0	0.003610	0	0
SERPINA10	51156	broad.mit.edu	37	14	94750463	94750463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:94750463C>T	ENST00000554723.1	-	5	1712	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	SERPINA10_ENST00000393096.1_Missense_Mutation_p.E392K|SERPINA10_ENST00000554173.1_Missense_Mutation_p.E392K|SERPINA10_ENST00000261994.4_Missense_Mutation_p.E392K			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	392					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)		GTGCCCCTTTCATCAACTTCA	0.418000													30	2					0	0	0.002836	0	0
PRAMEF20	645425	broad.mit.edu	37	1	13743086	13743086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:13743086G>A	ENST00000316412.5	+	2	374	c.275G>A	c.(274-276)aGg>aAg	p.R92K	PRAMEF20_ENST00000602960.1_Missense_Mutation_p.R92K	NM_001099852.1	NP_001093322.1	Q5VT98	PRA20_HUMAN	PRAME family member 20	92										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	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;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTACCCACAGGGTTCGTCTC	0.597000													12	12					0	0	0.001523	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471555	61471555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:61471555C>T	ENST00000398019.2	+	8	1154	c.829C>T	c.(829-831)Cct>Tct	p.P277S	SERPINB7_ENST00000546027.1_Missense_Mutation_p.P277S|SERPINB7_ENST00000336429.2_Missense_Mutation_p.P277S|SERPINB7_ENST00000540675.1_Missense_Mutation_p.P260S	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	277					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGTATTTTTTCCTCAGTTCAA	0.353000													16	27					0	0	0.004990	0	0
EPPK1	83481	broad.mit.edu	37	8	144940391	144940391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144940391G>A	ENST00000525985.1	-	2	7102	c.7031C>T	c.(7030-7032)gCc>gTc	p.A2344V				P58107	EPIPL_HUMAN	epiplakin 1	2344						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCGCCCGTGGCGATCTGGGC	0.692000													11	243					0	0	0.004007	0	0
KSR2	283455	broad.mit.edu	37	12	117962846	117962846	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:117962846A>G	ENST00000425217.1	-	14	1997	c.1943T>C	c.(1942-1944)tTt>tCt	p.F648S	KSR2_ENST00000302438.5_Missense_Mutation_p.F374S|KSR2_ENST00000339824.5_Missense_Mutation_p.F677S|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	677					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)					CACTTGCCCAAAGCGGCCCTT	0.607000													11	18					0	0	0.000673	0	0
LAMA3	3909	broad.mit.edu	37	18	21390462	21390462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:21390462G>A	ENST00000313654.9	+	13	1977	c.1736G>A	c.(1735-1737)tGc>tAc	p.C579Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.C579Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	579	Domain V.|Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCCCCACTGCCAAGGTAGG	0.557000													15	28					0	0	0.004990	0	0
COL14A1	7373	broad.mit.edu	37	8	121293205	121293205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121293205C>T	ENST00000297848.3	+	31	4001	c.3731C>T	c.(3730-3732)tCa>tTa	p.S1244L	COL14A1_ENST00000309791.4_Missense_Mutation_p.S1244L|COL14A1_ENST00000247781.3_Missense_Mutation_p.S1149L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1244	Nonhelical region (NC4).|TSP N-terminal.				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)			AAAGATTTTTCATCAGTGGAA	0.358000													25	25					0	0	0.002780	0	0
CT47B1	643311	broad.mit.edu	37	X	120008882	120008882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:120008882C>T	ENST00000371311.3	-	1	897	c.643G>A	c.(643-645)Gcc>Acc	p.A215T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	215										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGCTCCCTGGCCATCTCGGCC	0.697000													19	6					0	0	0.001523	0	0
CECR2	27443	broad.mit.edu	37	22	18022581	18022581	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:18022581C>T	ENST00000262608.8	+	15	2686	c.2686C>T	c.(2686-2688)Ccg>Tcg	p.P896S	CECR2_ENST00000400573.4_Missense_Mutation_p.P895S|CECR2_ENST00000400585.2_Missense_Mutation_p.P754S	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	937					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TGGCCCTTTTCCGCAGGTAGC	0.627000													16	46					0	0	0.001216	0	0
LYPD4	147719	broad.mit.edu	37	19	42342257	42342257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:42342257G>A	ENST00000330743.3	-	4	1501	c.290C>T	c.(289-291)tCc>tTc	p.S97F	LYPD4_ENST00000601246.1_Missense_Mutation_p.S62F|LYPD4_ENST00000343055.4_Missense_Mutation_p.S62F	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	97						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						TCCGGGTGGGGAAACAAGGTA	0.542000													20	35					0	0	0.002299	0	0
SAMD9	54809	broad.mit.edu	37	7	92734745	92734745	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92734745A>C	ENST00000379958.2	-	3	935	c.666T>G	c.(664-666)ttT>ttG	p.F222L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	222						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGCTGAAGCAAATCGGAAAA	0.388000													44	114					0	0	0.003610	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142078	3142078	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3142078C>T	ENST00000252463.2	-	2	558	c.471G>A	c.(469-471)caG>caA	p.Q157Q	ZSCAN10_ENST00000538082.2_Intron|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	157	Pro-rich.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGAATGTCTTCTGGGGCCCCG	0.662000													13	13					0	0	0.002450	0	0
SLIT1	6585	broad.mit.edu	37	10	98764506	98764506	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:98764506C>T	ENST00000266058.4	-	33	3899	c.3654G>A	c.(3652-3654)caG>caA	p.Q1218Q	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.Q1218Q	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1218	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCACATGGCCCTGGTACAGCT	0.597000													13	17					0	0	0.001855	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26107854	26107854	+	Silent	SNP	C	C	T	rs141027950		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:26107854C>T	ENST00000338379.4	-	1	510	c.468G>A	c.(466-468)ccG>ccA	p.P156P		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	156					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTGTCGCTCTCGGCTTCTTGG	0.488000													42	75					0	0	0.001951	0	0
PKP4	8502	broad.mit.edu	37	2	159459601	159459601	+	Missense_Mutation	SNP	C	C	T	rs141436976	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:159459601C>T	ENST00000389757.3	+	4	390	c.265C>T	c.(265-267)Cct>Tct	p.P89S	PKP4_ENST00000389759.3_Missense_Mutation_p.P89S	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	89					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GAAGTCATTTCCTTGGAGATC	0.274000										HNSCC(62;0.18)			40	75					0	0	0.003610	0	0
RTP3	83597	broad.mit.edu	37	3	46542365	46542365	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46542365G>A	ENST00000296142.3	+	2	1247	c.675G>A	c.(673-675)gtG>gtA	p.V225V		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	225					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TTATCGTGGTGATTGTTGTAA	0.368000													22	32					0	0	0.002780	0	0
NAALADL2	254827	broad.mit.edu	37	3	175473132	175473132	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:175473132C>T	ENST00000454872.1	+	13	2243	c.2115C>T	c.(2113-2115)atC>atT	p.I705I		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	705					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCATCCGCATCCGGATGCTGA	0.473000													6	8					0	0	0.001168	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525594	176525594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176525594G>A	ENST00000367662.3	+	2	1300	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E46K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	46					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						GGTGCTGTTGGAAGGAGAACG	0.557000													26	61					0	0	0.004656	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110523033	110523033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110523033G>A	ENST00000378402.5	+	71	11527	c.11423G>A	c.(11422-11424)gGa>gAa	p.G3808E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3808					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGTGTGCTGGATATACATGC	0.403000										HNSCC(38;0.096)			156	98					0	0	0.003610	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420398	69420398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:69420398C>T	ENST00000357336.3	+	13	1569	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	430										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TCAGCAATTTCCCAAGAAGCT	0.343000													85	231					0	0	0.003610	0	0
SOCS3	9021	broad.mit.edu	37	17	76354956	76354956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:76354956G>A	ENST00000330871.2	-	2	636	c.221C>T	c.(220-222)tCg>tTg	p.S74L		NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	74	SH2.				anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	protein kinase inhibitor activity			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GCGCTGGTCCGAGCTGTCGCG	0.647000													14	4					0	0	0.004007	0	0
GPR158	57512	broad.mit.edu	37	10	25887227	25887227	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:25887227C>T	ENST00000376351.3	+	11	3031	c.2672C>T	c.(2671-2673)aCt>aTt	p.T891I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	891						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGAAGAAAACTGGGCACCCA	0.507000													35	62					0	0	0.003271	0	0
CCNA1	8900	broad.mit.edu	37	13	37011835	37011835	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:37011835C>T	ENST00000418263.1	+	3	714	c.364C>T	c.(364-366)Cct>Tct	p.P122S	CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000449823.1_Missense_Mutation_p.P79S|CCNA1_ENST00000255465.4_Missense_Mutation_p.P123S|CCNA1_ENST00000440264.1_Missense_Mutation_p.P79S	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	123					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.P123>S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GAAAGCACTCCCTGACTGTGG	0.493000													39	32					0	0	0.005524	0	0
KCNH6	81033	broad.mit.edu	37	17	61613282	61613282	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:61613282G>A	ENST00000583023.1	+	6	1365	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N	KCNH6_ENST00000314672.5_Missense_Mutation_p.D452N|KCNH6_ENST00000581784.1_Intron|KCNH6_ENST00000580652.1_Missense_Mutation_p.D452N|KCNH6_ENST00000456941.2_Intron	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	452					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CAACGGCAGCGACCCAGCCTC	0.622000													19	5					0	0	0.001216	0	0
MTMR7	9108	broad.mit.edu	37	8	17230708	17230708	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:17230708T>A	ENST00000180173.5	-	2	100	c.66A>T	c.(64-66)aaA>aaT	p.K22N	MTMR7_ENST00000521857.1_Missense_Mutation_p.K22N	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	22							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTAGAGCTGCTTTTTTAGGAG	0.393000													23	7					0	0	0.004656	0	0
OR5B3	441608	broad.mit.edu	37	11	58170303	58170303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:58170303C>T	ENST00000309403.2	-	1	579	c.580G>A	c.(580-582)Gag>Aag	p.E194K		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGAACAAGCTCGCTAATATGT	0.363000													23	23					0	0	0.003330	0	0
NRG3	10718	broad.mit.edu	37	10	84711313	84711313	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:84711313C>T	ENST00000372142.2	+	6	754	c.480C>T	c.(478-480)ttC>ttT	p.F160F	NRG3_ENST00000404547.1_Silent_p.F381F|NRG3_ENST00000556918.1_Silent_p.F211F|NRG3_ENST00000372141.2_Silent_p.F381F|NRG3_ENST00000545131.1_Silent_p.F31F|NRG3_ENST00000537893.1_Silent_p.F31F|NRG3_ENST00000404576.2_Silent_p.F185F	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	381	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTGCAGCATTCTACTTCAAAA	0.383000													53	49					0	0	0.003610	0	0
TSHR	7253	broad.mit.edu	37	14	81534601	81534601	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:81534601C>T	ENST00000541158.2	+	4	568	c.246C>T	c.(244-246)taC>taT	p.Y82Y	TSHR_ENST00000342443.6_Silent_p.Y82Y|TSHR_ENST00000298171.2_Silent_p.Y82Y|TSHR_ENST00000554435.1_Silent_p.Y82Y|TSHR_ENST00000554263.1_Silent_p.Y82Y			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	82					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATTCAGCTACGTATCTATAG	0.358000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						40	6					0	0	0.001951	0	0
MROH8	140699	broad.mit.edu	37	20	35738689	35738689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:35738689G>A	ENST00000400441.3	-	22	2883	c.2884C>T	c.(2884-2886)Ccc>Tcc	p.P962S	MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.P791S					maestro heat-like repeat family member 8																		CTTCTGATGGGAAGTTTTGGG	0.373000													155	82					0	0	0.003610	0	0
C7orf63	79846	broad.mit.edu	37	7	89891307	89891307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:89891307C>T	ENST00000389297.4	+	4	544	c.293C>T	c.(292-294)tCa>tTa	p.S98L	C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Missense_Mutation_p.S98L|C7orf63_ENST00000316089.8_Missense_Mutation_p.S98L	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	98							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AATCTGTGTTCAGGAAAAATA	0.249000													55	57					0	0	0.003610	0	0
PTPRB	5787	broad.mit.edu	37	12	70964929	70964929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:70964929G>A	ENST00000334414.6	-	13	3291	c.3247C>T	c.(3247-3249)Cac>Tac	p.H1083Y	PTPRB_ENST00000551525.1_Missense_Mutation_p.H1082Y|PTPRB_ENST00000261266.5_Missense_Mutation_p.H865Y|PTPRB_ENST00000538708.1_Missense_Mutation_p.H865Y|PTPRB_ENST00000550358.1_Missense_Mutation_p.H995Y|PTPRB_ENST00000550857.1_Missense_Mutation_p.H775Y|PTPRB_ENST00000451516.2_Missense_Mutation_p.H775Y	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	865	Fibronectin type-III 12.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTACAAGGTGAAAAGGAGGA	0.458000													18	26					0	0	0.000958	0	0
ITGA2B	3674	broad.mit.edu	37	17	42458345	42458345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:42458345G>A	ENST00000262407.5	-	13	1326	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	ITGA2B_ENST00000353281.4_Missense_Mutation_p.S432L|ITGA2B_ENST00000377068.3_Missense_Mutation_p.S117L	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	432					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GGAGGGACGTGACCTCAGCCC	0.627000													40	4					0	0	0.002522	0	0
WDR52	55779	broad.mit.edu	37	3	113085083	113085083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:113085083G>A	ENST00000393845.2	-	19	2584	c.2518C>T	c.(2518-2520)Cct>Tct	p.P840S	WDR52_ENST00000295868.2_Missense_Mutation_p.P840S	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	840										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						GTCAATGAAGGATCATTTTGA	0.318000													30	46					0	0	0.001786	0	0
PRDM15	63977	broad.mit.edu	37	21	43291606	43291606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:43291606G>A	ENST00000269844.3	-	4	648	c.538C>T	c.(538-540)Cct>Tct	p.P180S	PRDM15_ENST00000538201.1_Intron|AP001619.3_ENST00000458654.1_RNA|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000422911.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCCCACCAGGAGGTAGGGCA	0.582000													25	30					0	0	0.001061	0	0
OR7D2	162998	broad.mit.edu	37	19	9296980	9296980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9296980C>T	ENST00000344248.2	+	1	702	c.523C>T	c.(523-525)Cca>Tca	p.P175S		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	175					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTTGAAATTCCACATTTTTT	0.458000													65	93					0	0	0.003610	0	0
CD163L1	283316	broad.mit.edu	37	12	7528404	7528404	+	Missense_Mutation	SNP	C	C	T	rs150856487	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7528404C>T	ENST00000313599.3	-	10	2635	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000416109.2_Missense_Mutation_p.E870K|CD163L1_ENST00000396630.1_Missense_Mutation_p.E860K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	860	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGGAACTTTTCGGCCCAAGTT	0.458000													27	49					0	0	0.001512	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844405	128844405	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128844405G>A	ENST00000310343.9	-	20	2644	c.2645C>T	c.(2644-2646)tCc>tTc	p.S882F	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S533F|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.S808F|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S533F	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	882					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTCAGTAAAGGAGGATGGCTT	0.438000													31	60					0	0	0.003271	0	0
TCTE1	202500	broad.mit.edu	37	6	44255463	44255463	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:44255463T>G	ENST00000371505.4	-	2	222	c.100A>C	c.(100-102)Agc>Cgc	p.S34R	TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	34										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGCTGTGGGCTTGTGCTTGAA	0.552000													20	37					0	0	0.001061	0	0
DLG2	1740	broad.mit.edu	37	11	83497758	83497758	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:83497758C>T	ENST00000398309.2	-	13	1955	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	DLG2_ENST00000524982.1_Silent_p.T495T|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Silent_p.T249T|DLG2_ENST00000330014.6_Silent_p.T434T|DLG2_ENST00000418306.2_Silent_p.T392T|DLG2_ENST00000532653.1_Silent_p.T495T|DLG2_ENST00000531015.1_Silent_p.T462T|DLG2_ENST00000398301.2_Silent_p.T534T|DLG2_ENST00000376104.2_Silent_p.T600T|DLG2_ENST00000543673.1_Silent_p.T600T|DLG2_ENST00000280241.8_Silent_p.T534T	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	495	PDZ 3.					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)				GTGCTATAATCGTCACTGTCT	0.453000													12	37					0	0	0.001368	0	0
HECTD4	283450	broad.mit.edu	37	12	112610513	112610513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:112610513G>A	ENST00000550722.1	-	67	11704	c.11309C>T	c.(11308-11310)cCc>cTc	p.P3770L	HECTD4_ENST00000377560.5_Missense_Mutation_p.P3744L|HECTD4_ENST00000430131.2_Missense_Mutation_p.P3494L	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGCATCCGCGGGGTCCAGGTA	0.637000													13	20					0	0	0.003163	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763485	92763485	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92763485C>T	ENST00000318238.4	-	5	3016	c.1800G>A	c.(1798-1800)atG>atA	p.M600I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.M600I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.M600I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	600										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTCATCTTCCATCTTCATTC	0.343000													113	24					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238275624	238275624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:238275624C>T	ENST00000295550.4	-	11	5658	c.5206G>A	c.(5206-5208)Ggc>Agc	p.G1736S	COL6A3_ENST00000409809.1_Missense_Mutation_p.G1530S|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1535S|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1530S|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1129S|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1536S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1736	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGCGGCTGCCTGCCTCAGGC	0.577000													13	30					0	0	0.003163	0	0
SYNE1	23345	broad.mit.edu	37	6	152532666	152532666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152532666C>T	ENST00000367255.5	-	124	23153	c.22552G>A	c.(22552-22554)Ggg>Agg	p.G7518R	SYNE1_ENST00000356820.4_Missense_Mutation_p.G2042R|SYNE1_ENST00000341594.5_Missense_Mutation_p.G7130R|SYNE1_ENST00000448038.1_Missense_Mutation_p.G7447R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G7518R|SYNE1_ENST00000423061.1_Missense_Mutation_p.G7447R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7518					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)		AGACGTTGCCCATCAATAATG	0.318000										HNSCC(10;0.0054)			18	40					0	0	0.002299	0	0
TACR3	6870	broad.mit.edu	37	4	104640509	104640509	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:104640509C>T	ENST00000304883.2	-	1	464	c.324G>A	c.(322-324)tgG>tgA	p.W108*		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	108						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CCAGGATGATCCAGATGACGA	0.582000													20	28					0	0	0.000958	0	0
SLC35F4	341880	broad.mit.edu	37	14	58063609	58063609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:58063609C>T	ENST00000339762.6	-	1	6	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000554729.1_5'UTR					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGAGTAGTTCATCCATGACA	0.448000													30	2					0	0	0.001512	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370519	38370519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38370519G>A	ENST00000322350.5	+	6	1013	c.667G>A	c.(667-669)Ggc>Agc	p.G223S	EGFLAM_ENST00000354891.3_Missense_Mutation_p.G223S	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	223	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GAATTCCCATGGCCCCAGCCC	0.577000													10	23					0	0	0.000673	0	0
PLD1	5337	broad.mit.edu	37	3	171392375	171392375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:171392375G>A	ENST00000356327.5	-	18	2100	c.2030C>T	c.(2029-2031)tCt>tTt	p.S677F	PLD1_ENST00000340989.4_Missense_Mutation_p.S715F|PLD1_ENST00000351298.4_Missense_Mutation_p.S715F|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	715	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)	AAAAGGATAAGAAAGGGACCG	0.343000													24	44					0	0	0.003954	0	0
WDFY3	23001	broad.mit.edu	37	4	85715819	85715819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:85715819G>A	ENST00000322366.6	-	21	3747	c.3340C>T	c.(3340-3342)Cct>Tct	p.P1114S	WDFY3_ENST00000295888.4_Missense_Mutation_p.P1114S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1114						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			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)		TTATTTGGAGGAGAACTAAAA	0.398000													25	27					0	0	0.002780	0	0
ITIH5	80760	broad.mit.edu	37	10	7679434	7679434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:7679434C>T	ENST00000256861.6	-	5	487	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	ITIH5_ENST00000397145.2_Missense_Mutation_p.G137R|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.G137R|ITIH5_ENST00000446830.2_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	137	VIT.				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						ATTTCAGTCCCCTTCTCTCTG	0.542000													13	35					0	0	0.004990	0	0
CCDC147	159686	broad.mit.edu	37	10	106128210	106128210	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106128210C>T	ENST00000369704.3	+	6	956	c.822C>T	c.(820-822)ctC>ctT	p.L274L	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	274										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CAAAGGAACTCGAGCAATTTC	0.423000													13	18					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9046027	9046027	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9046027G>A	ENST00000397910.4	-	5	35807	c.35604C>T	c.(35602-35604)tcC>tcT	p.S11868S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11870	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						GTAAACCAAGGGAAAGAGTTG	0.502000													54	72					0	0	0.003610	0	0
THBS1	7057	broad.mit.edu	37	15	39885655	39885655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39885655G>A	ENST00000260356.5	+	19	3218	c.3053G>A	c.(3052-3054)aGg>aAg	p.R1018K		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1018	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.R1018M(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AACACCGAAAGGGACGATGAC	0.493000													77	104					0	0	0.003610	0	0
CCDC88C	440193	broad.mit.edu	37	14	91774810	91774810	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:91774810T>A	ENST00000389857.6	-	17	2977	c.2891A>T	c.(2890-2892)aAt>aTt	p.N964I		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	964					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCTGATTCATTTCTGCCCTC	0.408000													54	71					0	0	0.003610	0	0
NKD1	85407	broad.mit.edu	37	16	50659401	50659401	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:50659401C>T	ENST00000268459.3	+	6	596	c.372C>T	c.(370-372)ctC>ctT	p.L124L		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	124					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TCCAGGAGCTCCAGTGCGACG	0.622000													10	28					0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179444787	179444787	+	Silent	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179444787G>T	ENST00000589042.1	-	318	67451	c.67227C>A	c.(67225-67227)tcC>tcA	p.S22409S	TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.S13344S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.S20768S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.S13469S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.S19841S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.S13536S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20768	Ig-like 116.						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)			AGCTTGTTTTGGAGCACTCAG	0.453000													7	141					0.000442599	0.000823929	0.000443	1	0
FSHR	2492	broad.mit.edu	37	2	49190007	49190007	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:49190007G>A	ENST00000406846.2	-	10	2072	c.1953C>T	c.(1951-1953)gcC>gcT	p.A651A	FSHR_ENST00000541117.1_Silent_p.A387A|FSHR_ENST00000346173.3_Silent_p.A589A|FSHR_ENST00000304421.4_Silent_p.A625A	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	651					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TATAAATTTGGGCTTGCATTT	0.473000									Gonadal Dysgenesis, 46 XX				23	28					0	0	0.002780	0	0
MUC16	94025	broad.mit.edu	37	19	8987295	8987295	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8987295G>A	ENST00000397910.4	-	68	41995	c.41792C>T	c.(41791-41793)aCc>aTc	p.T13931I	MUC16_ENST00000380951.5_Missense_Mutation_p.T572I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13956				Missing (in Ref. 3; AAK74120).	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						GTTGTTGATGGTGAAGTTCAG	0.592000													22	33					0	0	0.002299	0	0
ABCA4	24	broad.mit.edu	37	1	94514507	94514507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:94514507G>A	ENST00000370225.3	-	18	2746	c.2660C>T	c.(2659-2661)tCa>tTa	p.S887L	ABCA4_ENST00000535735.1_Missense_Mutation_p.S813L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	887					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCTCTGGTTGAACACCCTGC	0.527000													15	21					0	0	0.004990	0	0
XIRP2	129446	broad.mit.edu	37	2	168102898	168102898	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168102898C>T	ENST00000409195.1	+	9	5085	c.4996C>T	c.(4996-4998)Ctg>Ttg	p.L1666L	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.L1666L|XIRP2_ENST00000409273.1_Silent_p.L1444L|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1491					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						AATAAAAAACCTGTTCTCTGA	0.303000													20	40					0	0	0.001523	0	0
COL6A5	256076	broad.mit.edu	37	3	130188205	130188205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:130188205G>A	ENST00000265379.6	+	38	7851	c.7357G>A	c.(7357-7359)Gaa>Aaa	p.E2453K	COL6A5_ENST00000432398.2_Missense_Mutation_p.E2453K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2453	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAATGACAAAGAATTAGAAGA	0.438000													27	21					0	0	0.003954	0	0
MUC16	94025	broad.mit.edu	37	19	9066356	9066356	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9066356G>A	ENST00000397910.4	-	3	21293	c.21090C>T	c.(21088-21090)atC>atT	p.I7030I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7032	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						TTTGAGTGGGGATGGTCATTT	0.493000													107	116					0	0	0.003610	0	0
CLASP1	23332	broad.mit.edu	37	2	122204918	122204918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:122204918G>A	ENST00000263710.4	-	19	2296	c.1907C>T	c.(1906-1908)tCc>tTc	p.S636F	CLASP1_ENST00000541859.1_Missense_Mutation_p.S405F|CLASP1_ENST00000397587.3_Missense_Mutation_p.S636F|CLASP1_ENST00000545861.1_Missense_Mutation_p.S404F|CLASP1_ENST00000455322.2_Missense_Mutation_p.S636F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S636F|CLASP1_ENST00000409078.3_Missense_Mutation_p.S636F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	636	Ser-rich.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GTTACCTAAGGATGCGTATGA	0.522000													5	6					0	0	0.000602	0	0
NAV1	89796	broad.mit.edu	37	1	201762993	201762993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201762993C>T	ENST00000367296.4	+	14	3815	c.3395C>T	c.(3394-3396)gCc>gTc	p.A1132V	NAV1_ENST00000295624.6_Missense_Mutation_p.A1132V|NAV1_ENST00000367300.3_Missense_Mutation_p.A1075V|NAV1_ENST00000367297.4_Missense_Mutation_p.A1124V|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367295.1_Missense_Mutation_p.A741V|NAV1_ENST00000367302.1_Missense_Mutation_p.A1088V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1132					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCAGAGACGGCCGAGGAGAAG	0.582000													20	20					0	0	0.002780	0	0
ZNF551	90233	broad.mit.edu	37	19	58199596	58199596	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58199596C>T	ENST00000282296.5	+	3	2138	c.1953C>T	c.(1951-1953)tcC>tcT	p.S651S	ZNF551_ENST00000356715.4_Silent_p.S635S|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGGAAATCCTTTAGCCGCA	0.413000													40	45					0	0	0.002222	0	0
DTWD2	285605	broad.mit.edu	37	5	118274914	118274914	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:118274914G>A	ENST00000304058.4	-	3	253	c.183C>T	c.(181-183)atC>atT	p.I61I	DTWD2_ENST00000510708.1_Silent_p.I127I|DTWD2_ENST00000515439.3_Intron			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	127										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		AGCGACGACCGATCTTCACTT	0.358000													12	4					0	0	0.003163	0	0
CREB5	9586	broad.mit.edu	37	7	28843904	28843904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:28843904C>T	ENST00000357727.2	+	8	1181	c.791C>T	c.(790-792)tCc>tTc	p.S264F	CREB5_ENST00000396300.2_Missense_Mutation_p.S257F|CREB5_ENST00000409603.1_Missense_Mutation_p.S231F|CREB5_ENST00000396299.2_Missense_Mutation_p.S231F|CREB5_ENST00000396298.2_Missense_Mutation_p.S125F	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	264					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ATGATGGGCTCCCGGCAGGAC	0.572000													112	156					0	0	0.003610	0	0
CYBRD1	79901	broad.mit.edu	37	2	172379235	172379235	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:172379235C>T	ENST00000321348.4	+	1	378	c.180C>T	c.(178-180)ttC>ttT	p.F60F	CYBRD1_ENST00000409484.1_Intron|CYBRD1_ENST00000375252.3_Silent_p.F60F|CYBRD1_ENST00000468308.1_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	60	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GCTTCGTCTTCATCCAGGGCA	0.652000													21	40					0	0	0.003330	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399064	22399064	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:22399064G>A	ENST00000263160.3	+	12	1964	c.1527G>A	c.(1525-1527)gaG>gaA	p.E509E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	509					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						CAGACCCGGAGGAAACAAGTG	0.408000													16	25					0	0	0.003163	0	0
OR14C36	127066	broad.mit.edu	37	1	248512712	248512712	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248512712C>T	ENST00000317861.1	+	1	636	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCATCTTTATCATCAGGTCTT	0.512000													53	45					0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181727983	181727983	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181727983G>A	ENST00000526775.1	+	31	4692	c.4527G>A	c.(4525-4527)aaG>aaA	p.K1509K	CACNA1E_ENST00000367567.4_Silent_p.K1135K|CACNA1E_ENST00000367570.1_Silent_p.K1528K|CACNA1E_ENST00000360108.3_Silent_p.K1509K|CACNA1E_ENST00000357570.5_Silent_p.K1479K|CACNA1E_ENST00000367573.2_Silent_p.K1528K|CACNA1E_ENST00000358338.5_Silent_p.K1460K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1528					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTGTCCTGAAGGTCATCGCTT	0.498000													23	69					0	0	0.005443	0	0
STAC	6769	broad.mit.edu	37	3	36545950	36545950	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36545950G>A	ENST00000273183.3	+	7	1131		c.e7+1		STAC_ENST00000476388.1_Splice_Site|STAC_ENST00000457375.2_Splice_Site	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain						intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AAACCACCAGGTATTTATGGA	0.428000													15	22					0	0	0.003163	0	0
HDC	3067	broad.mit.edu	37	15	50534745	50534745	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:50534745G>A	ENST00000267845.3	-	12	2103	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S	HDC_ENST00000543581.1_Silent_p.S534S	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	567					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TGAACAGGAAGGAGGACAGCT	0.527000													63	72					0	0	0.003610	0	0
CDH10	1008	broad.mit.edu	37	5	24593471	24593471	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:24593471C>T	ENST00000264463.4	-	2	636	c.129G>A	c.(127-129)agG>agA	p.R43R	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	43					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)		TGCCATCACTCCTTGGTACAC	0.408000										HNSCC(23;0.051)			49	94					0	0	0.003610	0	0
STAB1	23166	broad.mit.edu	37	3	52546974	52546974	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:52546974G>A	ENST00000321725.6	+	29	3234	c.3158_splice	c.e29+1	p.R1053_splice		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1053	FAS1 3.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AACCTGGTCAGGTGGGGCCGC	0.687000													6	10					0	0	0.001168	0	0
SLC2A2	6514	broad.mit.edu	37	3	170732471	170732471	+	Missense_Mutation	SNP	C	C	T	rs145210664		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:170732471C>T	ENST00000314251.3	-	3	237	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	53					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GATAGCTTTTCGGTCATCCAG	0.368000													38	42					0	0	0.001485	0	0
CFHR4	10877	broad.mit.edu	37	1	196876092	196876092	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:196876092G>A	ENST00000367416.2	+	4	675	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGATGGATATGAAAGCAGTTA	0.383000													24	16					0	0	0.003330	0	0
OR4C3	256144	broad.mit.edu	37	11	48346951	48346951	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:48346951G>A	ENST00000319856.4	+	1	480	c.459G>A	c.(457-459)aaG>aaA	p.K153K		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCATCTGTAAGCCCCTGCACA	0.522000													36	56					0	0	0.004878	0	0
ABCB4	5244	broad.mit.edu	37	7	87101970	87101970	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:87101970C>T	ENST00000265723.4	-	3	213	c.102G>A	c.(100-102)acG>acA	p.T34T	ABCB4_ENST00000359206.3_Silent_p.T34T|ABCB4_ENST00000358400.3_Silent_p.T34T|ABCB4_ENST00000545634.1_Silent_p.T34T|ABCB4_ENST00000453593.1_Silent_p.T34T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	34					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCACTGTCTTCGTTTTTTTCC	0.249000													30	90					0	0	0.001271	0	0
WT1	7490	broad.mit.edu	37	11	32414222	32414222	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:32414222C>T	ENST00000332351.3	-	8	1613	c.1329G>A	c.(1327-1329)agG>agA	p.R443R	WT1_ENST00000448076.3_Silent_p.R443R|WT1_ENST00000379079.2_Silent_p.R231R|WT1_ENST00000530998.1_Silent_p.R214R	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	375					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CTGTATGTCTCCTTTGGTGTC	0.438000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				20	36					0	0	0.002299	0	0
TENM4	26011	broad.mit.edu	37	11	78443566	78443566	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:78443566G>A	ENST00000278550.7	-	21	3395	c.2933C>T	c.(2932-2934)cCt>cTt	p.P978L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGTGATGAAAGGTGCCCGCTC	0.542000													12	12					0	0	0.001855	0	0
PDLIM1	9124	broad.mit.edu	37	10	97028577	97028577	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:97028577C>T	ENST00000329399.6	-	3	399	c.291G>A	c.(289-291)ggG>ggA	p.G97G	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	97					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GATGACGCTTCCCTTCCTCCG	0.443000													20	35					0	0	0.005443	0	0
OR10J5	127385	broad.mit.edu	37	1	159505008	159505008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159505008C>T	ENST00000334857.2	-	1	834	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					ATTGAACTTTCTGACTTCGGC	0.488000													31	31					0	0	0.002445	0	0
SLC22A18	5002	broad.mit.edu	37	11	2929491	2929491	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:2929491C>G	ENST00000380574.1	+	3	604	c.173C>G	c.(172-174)tCc>tGc	p.S58C	SLC22A18_ENST00000347936.2_Missense_Mutation_p.S58C|SLC22A18_ENST00000449793.2_Missense_Mutation_p.S58C|SLC22A18_ENST00000312221.5_Missense_Mutation_p.S58C			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	58					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCCTGGATTCCATTGCCTTC	0.617000													71	120					0	0	0.003610	0	0
PLXNB1	5364	broad.mit.edu	37	3	48457565	48457565	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48457565G>A	ENST00000358536.4	-	18	3761	c.3492C>T	c.(3490-3492)gtC>gtT	p.V1164V	PLXNB1_ENST00000296440.6_Silent_p.V1164V|PLXNB1_ENST00000358459.4_Silent_p.V981V|PLXNB1_ENST00000456774.1_Silent_p.V981V|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1164	IPT/TIG 2.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGATGGAATGGACCTTCGGAT	0.642000													7	3					0	0	0.004482	0	0
BRD4	23476	broad.mit.edu	37	19	15375451	15375451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15375451G>A	ENST00000263377.2	-	6	1197	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	BRD4_ENST00000360016.5_Missense_Mutation_p.R326W|BRD4_ENST00000371835.4_Missense_Mutation_p.R326W	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	326					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTCACAGGCCGGCTGCTCTCC	0.652000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	24					0	0	0.003163	0	0
ROBO1	6091	broad.mit.edu	37	3	78667144	78667144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:78667144G>A	ENST00000436010.2	-	25	4803	c.3806C>T	c.(3805-3807)cCa>cTa	p.P1269L	ROBO1_ENST00000467549.1_Missense_Mutation_p.P1208L|ROBO1_ENST00000464233.1_Missense_Mutation_p.P1308L|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1263L			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1308					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATAGGTATGTGGAGGGGAGAT	0.502000													18	40					0	0	0.001882	0	0
FKBP15	23307	broad.mit.edu	37	9	115931755	115931755	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:115931755G>A	ENST00000238256.3	-	26	3351	c.3234C>T	c.(3232-3234)gtC>gtT	p.V1078V		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1078					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCTGACACAGACCTTTCCTG	0.587000													112	17					0	0	0.003610	0	0
ITGA2B	3674	broad.mit.edu	37	17	42457071	42457071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:42457071G>A	ENST00000262407.5	-	18	1895	c.1864C>T	c.(1864-1866)Cat>Tat	p.H622Y	ITGA2B_ENST00000353281.4_Missense_Mutation_p.H622Y	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	622					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TCCTGCACATGGGTGTCTCCA	0.592000													101	22					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13814719	13814719	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13814719G>A	ENST00000265104.4	-	43	7329	c.7225C>T	c.(7225-7227)Ctt>Ttt	p.L2409F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2409	AAA 2 (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)					TATACCTCAAGAATAGGACTC	0.378000									Kartagener syndrome				16	16					0	0	0.003163	0	0
PMFBP1	83449	broad.mit.edu	37	16	72153731	72153731	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72153731T>A	ENST00000537465.1	-	20	3199	c.3041A>T	c.(3040-3042)cAa>cTa	p.Q1014L	PMFBP1_ENST00000355636.6_Intron|PMFBP1_ENST00000537792.1_Intron|PMFBP1_ENST00000237353.10_Intron			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	1014										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTATTTTTTTGACAAATGGC	0.448000													24	37					0	0	0.003954	0	0
C16orf91	283951	broad.mit.edu	37	16	1476275	1476275	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1476275C>T	ENST00000310355.1	-	3	347	c.348G>A	c.(346-348)agG>agA	p.R116R				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATCGAAGGGCCCTCTGGTTAG	0.607000													11	28					0	0	0.000673	0	0
OBSL1	23363	broad.mit.edu	37	2	220420732	220420732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:220420732G>A	ENST00000603926.1	-	14	4675	c.4619C>T	c.(4618-4620)cCc>cTc	p.P1540L	OBSL1_ENST00000404537.1_Intron|OBSL1_ENST00000265317.5_Missense_Mutation_p.P439L|OBSL1_ENST00000373876.1_Intron|OBSL1_ENST00000265318.4_Intron	NM_001173431.1	NP_001166902.1	O75147	OBSL1_HUMAN	obscurin-like 1	1720					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)		AGAGAGGACGGGGCACTCACG	0.607000													22	27					0	0	0.001061	0	0
RERE	473	broad.mit.edu	37	1	8418852	8418852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:8418852G>A	ENST00000337907.3	-	21	4377	c.3743C>T	c.(3742-3744)cCc>cTc	p.P1248L	RERE_ENST00000400908.2_Missense_Mutation_p.P1248L|RERE_ENST00000476556.1_Missense_Mutation_p.P694L|RERE_ENST00000377464.1_Missense_Mutation_p.P980L|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1248					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGTGTGTCGGGCCCGATGTA	0.652000													35	34					0	0	0.004289	0	0
PPM1B	5495	broad.mit.edu	37	2	44436387	44436387	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:44436387T>G	ENST00000378551.2	+	3	1297	c.885T>G	c.(883-885)ttT>ttG	p.F295L	PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_Missense_Mutation_p.F295L|PPM1B_ENST00000282412.4_Missense_Mutation_p.F295L|PPM1B_ENST00000345249.4_Missense_Mutation_p.F8L|PPM1B_ENST00000409895.4_Missense_Mutation_p.F295L	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	295					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TAGTTTGCTTTTCAAATGCTC	0.328000													125	180					0	0	0.003610	0	0
IGHV3-66	28412	broad.mit.edu	37	14	107131212	107131212	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:107131212G>A	ENST00000390632.2	-	0	247																											GGAGCCTGGCGGACCCAGCTC	0.587000													53	17					0	0	0.003610	0	0
PDE1A	5136	broad.mit.edu	37	2	183070689	183070689	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:183070689T>A	ENST00000435564.1	-	8	1128	c.928A>T	c.(928-930)Aat>Tat	p.N310Y	PDE1A_ENST00000536095.1_Missense_Mutation_p.N206Y|PDE1A_ENST00000410103.1_Missense_Mutation_p.N310Y|PDE1A_ENST00000346717.4_Missense_Mutation_p.N276Y|PDE1A_ENST00000456212.1_Missense_Mutation_p.N310Y|PDE1A_ENST00000351439.5_Missense_Mutation_p.N294Y|PDE1A_ENST00000331935.6_Missense_Mutation_p.N310Y|PDE1A_ENST00000358139.2_Missense_Mutation_p.N310Y|PDE1A_ENST00000409365.1_Missense_Mutation_p.N294Y	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	310	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTGGATAAATTTATCAAGATA	0.343000													24	33					0	0	0.003954	0	0
SH2D5	400745	broad.mit.edu	37	1	21051026	21051026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:21051026C>T	ENST00000375031.1	-	5	865	c.241G>A	c.(241-243)Ggg>Agg	p.G81R	SH2D5_ENST00000444387.2_Missense_Mutation_p.G165R|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	81										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCACCTCCCCTGTGGGCCCT	0.662000													5	12					0	0	0.000602	0	0
APP	351	broad.mit.edu	37	21	27354660	27354660	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:27354660G>A	ENST00000358918.3	-	9	1420	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	APP_ENST00000440126.3_Silent_p.S383S|APP_ENST00000448388.2_Silent_p.S297S|APP_ENST00000357903.3_Silent_p.S388S|APP_ENST00000346798.3_Silent_p.S407S|APP_ENST00000348990.5_Silent_p.S332S|APP_ENST00000354192.3_Silent_p.S276S|APP_ENST00000439274.2_Silent_p.S351S|APP_ENST00000359726.3_Silent_p.S351S	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	407	Heparin-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GACTTACCTGGGACATTCTCT	0.522000													33	48					0	0	0.003755	0	0
CILP2	148113	broad.mit.edu	37	19	19655943	19655943	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:19655943C>T	ENST00000586018.1	+	8	2709	c.2607C>T	c.(2605-2607)ctC>ctT	p.L869L	CILP2_ENST00000291495.4_Silent_p.L863L			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	863						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCATCAACCTCGCCAAGCCCA	0.697000													15	24					0	0	0.004990	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596130	24596130	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24596130C>T	ENST00000535378.1	-	4	1387	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	KIAA0319_ENST00000378214.3_Missense_Mutation_p.E258K|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E258K|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E258K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E213K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	258					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						CTGGATTGTTCCTGGAGCTGA	0.547000													43	65					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179656855	179656855	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179656855C>T	ENST00000589042.1	-	10	1830	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	TTN_ENST00000360870.5_Missense_Mutation_p.E536K|TTN_ENST00000460472.2_Missense_Mutation_p.E536K|TTN_ENST00000591111.1_Missense_Mutation_p.E536K|TTN_ENST00000359218.5_Missense_Mutation_p.E536K|TTN_ENST00000342992.6_Missense_Mutation_p.E536K|TTN_ENST00000342175.6_Missense_Mutation_p.E536K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	536							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)			ATTCTAGTTTCTTGTTCTTTG	0.284000													30	27					0	0	0.003755	0	0
BDP1	55814	broad.mit.edu	37	5	70766290	70766290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:70766290C>T	ENST00000358731.4	+	7	1251	c.988C>T	c.(988-990)Cct>Tct	p.P330S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	330	Myb-like.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACAACTTTTTCCTCACAGAGC	0.318000													23	7					0	0	0.005443	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477133	110477133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110477133C>T	ENST00000378402.5	+	49	8176	c.8072C>T	c.(8071-8073)cCt>cTt	p.P2691L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2691					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATCCTGGCTCCTTATGTTGGA	0.463000										HNSCC(38;0.096)			75	48					0	0	0.003610	0	0
TMEM167A	153339	broad.mit.edu	37	5	82360863	82360863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:82360863G>A	ENST00000502346.1	-	2	249	c.77C>T	c.(76-78)tCc>tTc	p.S26F	TMEM167A_ENST00000511450.1_5'UTR	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	26						Golgi membrane|integral to membrane				large_intestine(1)|lung(1)	2						GGGTGCCAAGGATCGAATATA	0.328000													58	23					0	0	0.003610	0	0
SLC12A9	56996	broad.mit.edu	37	7	100456509	100456509	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100456509C>T	ENST00000354161.3	+	6	935	c.810C>T	c.(808-810)gtC>gtT	p.V270V	SLC12A9_ENST00000415287.1_Silent_p.V181V|SLC12A9_ENST00000275729.3_Silent_p.V181V|SLC12A9_ENST00000428758.1_Silent_p.V270V|SLC12A9_ENST00000540482.1_Silent_p.V270V	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	270						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTGCCAGCGTCTTTGCTGTCC	0.592000													17	44					0	0	0.001216	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303319	151303319	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:151303319C>T	ENST00000370323.4	-	4	1090	c.774G>A	c.(772-774)ggG>ggA	p.G258G	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.G258G	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	258	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCTCCATCCCATCATACA	0.527000													37	10					0	0	0.001287	0	0
PER2	8864	broad.mit.edu	37	2	239162201	239162201	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:239162201G>A	ENST00000254657.3	-	19	2742	c.2463C>T	c.(2461-2463)ccC>ccT	p.P821P	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	821					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CCACCAGCGGGGGCCGGGCGG	0.612000													10	12					0	0	0.000673	0	0
DTX3L	151636	broad.mit.edu	37	3	122283299	122283299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:122283299C>T	ENST00000296161.4	+	1	215	c.26C>T	c.(25-27)tCc>tTc	p.S9F	PARP9_ENST00000360356.2_5'UTR|DTX3L_ENST00000383661.3_Missense_Mutation_p.S9F|PARP9_ENST00000477522.2_5'UTR	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	9					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CGCCCGCCGTCCCCGCTCCTC	0.726000													9	12					0	0	0.001368	0	0
TPO	7173	broad.mit.edu	37	2	1488505	1488505	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1488505C>T	ENST00000345913.4	+	9	1567	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Silent_p.F492F|TPO_ENST00000349624.3_Silent_p.F319F|TPO_ENST00000337415.3_Silent_p.F492F|TPO_ENST00000382201.3_Silent_p.F492F|TPO_ENST00000329066.4_Silent_p.F492F|TPO_ENST00000382198.1_Silent_p.F319F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	492					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCTTCCGCTTCGGCCATGCCA	0.652000													11	23					0	0	0.001855	0	0
KLB	152831	broad.mit.edu	37	4	39448354	39448354	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:39448354T>C	ENST00000257408.4	+	4	2105	c.2008T>C	c.(2008-2010)Ttc>Ctc	p.F670L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	670	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGCCGAGGCCTTCCAGGCCTA	0.627000													9	22					0	0	0.000443	0	0
EGF	1950	broad.mit.edu	37	4	110866251	110866251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:110866251C>T	ENST00000265171.5	+	5	1205	c.760C>T	c.(760-762)Ctt>Ttt	p.L254F	EGF_ENST00000509793.1_Missense_Mutation_p.L254F|EGF_ENST00000503392.1_Missense_Mutation_p.L254F	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	254					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGCAATGTCCCTTTTTGGTGA	0.338000													9	23					0	0	0.000978	0	0
POTEF	728378	broad.mit.edu	37	2	130878001	130878001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:130878001G>A	ENST00000357462.5	-	1	181	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	POTEF_ENST00000361163.4_Missense_Mutation_p.R30C|POTEF_ENST00000409914.2_Missense_Mutation_p.R30C|POTEF_ENST00000360967.5_Missense_Mutation_p.R30C			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	30						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGGAAGCAACGGCAGCACCAC	0.552000													49	74					0	0	0.003610	0	0
SCN11A	11280	broad.mit.edu	37	3	38945566	38945566	+	Silent	SNP	G	G	A	rs149552611	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38945566G>A	ENST00000450244.1	-	12	1830	c.1632C>T	c.(1630-1632)ctC>ctT	p.L544L	SCN11A_ENST00000456224.3_Silent_p.L544L|SCN11A_ENST00000444237.2_Silent_p.L544L|SCN11A_ENST00000302328.3_Silent_p.L544L			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	544					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTCCACAAGGGAGACAAGGCT	0.507000													15	17					0	0	0.004007	0	0
DSCAML1	57453	broad.mit.edu	37	11	117340694	117340694	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117340694G>A	ENST00000321322.6	-	16	3137	c.3136C>T	c.(3136-3138)Ccc>Tcc	p.P1046S	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P776S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	986	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGCCCATCGGGAGCTGAGCAG	0.567000													25	45					0	0	0.001271	0	0
OR2C3	81472	broad.mit.edu	37	1	247695727	247695727	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247695727G>A	ENST00000366487.3	-	2	448	c.87C>T	c.(85-87)ttC>ttT	p.F29F	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F28F(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGACAACTATGAAGAGGACAG	0.463000													38	32					0	0	0.001287	0	0
BDNF	627	broad.mit.edu	37	11	27679990	27679990	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:27679990C>T	ENST00000525528.1	-	1	1215	c.122G>A	c.(121-123)gGg>gAg	p.G41E	BDNF_ENST00000314915.6_Missense_Mutation_p.G49E|BDNF_ENST00000533246.1_Missense_Mutation_p.G41E|BDNF_ENST00000356660.4_Missense_Mutation_p.G41E|BDNF_ENST00000584049.1_5'UTR|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.G41E|BDNF_ENST00000395980.2_Missense_Mutation_p.G41E|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.G56E|BDNF_ENST00000533131.1_Missense_Mutation_p.G41E|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395978.3_Missense_Mutation_p.G41E|BDNF_ENST00000418212.1_Missense_Mutation_p.G41E|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.G123E|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.G41E|BDNF_ENST00000420794.1_Missense_Mutation_p.G41E|BDNF_ENST00000395983.3_Missense_Mutation_p.G41E|BDNF_ENST00000532997.1_Missense_Mutation_p.G41E|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395981.3_Missense_Mutation_p.G41E|BDNF_ENST00000525950.1_Missense_Mutation_p.G41E	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	41						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CTCCAGAGTCCCATGGGTCCG	0.522000													44	55					0	0	0.003610	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97949554	97949554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:97949554C>T	ENST00000005260.8	-	4	486	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	91	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CGTACATTTTCATCAAGACTC	0.358000													30	20					0	0	0.003271	0	0
TRAV38-1	28644	broad.mit.edu	37	14	22739876	22739876	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22739876G>A	ENST00000390464.2	+	0	26																											AGCTTGCTGTGGGCAGTCGTG	0.502000													21	26					0	0	0.003330	0	0
LRIG1	26018	broad.mit.edu	37	3	66449435	66449435	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:66449435C>T	ENST00000383703.3	-	11	1866	c.1263G>A	c.(1261-1263)gtG>gtA	p.V421V	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Silent_p.V397V			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	397						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTCTCTTAGCCACAGACTTGA	0.537000													9	26					0	0	0.000443	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297869	139297869	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:139297869G>A	ENST00000406164.1	-	4	590	c.27C>T	c.(25-27)atC>atT	p.I9I	NMNAT3_ENST00000339837.5_Silent_p.I9I|NMNAT3_ENST00000296202.7_Silent_p.I46I|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000511444.1_Silent_p.I9I|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000512391.1_Silent_p.I46I|NMNAT3_ENST00000413939.2_Intron			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	46					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TGACAGGAGAGATGATACCCT	0.562000													5	17					0	0	0.001168	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860355	228860355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228860355C>T	ENST00000392056.3	-	8	4550	c.4504G>A	c.(4504-4506)Gcc>Acc	p.A1502T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1502T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1502						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCATCGGGGGCTCTGGCTTCT	0.557000													11	17					0	0	0.000673	0	0
MDGA2	161357	broad.mit.edu	37	14	47351311	47351311	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:47351311G>A	ENST00000426342.1	-	11	2204	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V	MDGA2_ENST00000399232.2_Silent_p.V784V|MDGA2_ENST00000439988.2_Silent_p.V715V|MDGA2_ENST00000357362.3_Silent_p.V486V|MDGA2_ENST00000399222.3_5'UTR	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	715	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GAGTCAGTCGGACTTCATAAG	0.333000													25	3					0	0	0.004656	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115695	15115695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:15115695G>A	ENST00000253699.3	-	14	2562	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.S650F	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	650	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AGGGTCTAAGGAAACCCCTGC	0.557000													27	39					0	0	0.001512	0	0
ITM2A	9452	broad.mit.edu	37	X	78616612	78616612	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:78616612C>A	ENST00000434584.2	-	5	970	c.634G>T	c.(634-636)Gtt>Ttt	p.V212F	ITM2A_ENST00000373298.2_Missense_Mutation_p.V256F|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	256	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTGGTCTCAACAATAAATTCG	0.353000													12	5					0.00185496	0.00344975	0.001855	1	0
PURA	5813	broad.mit.edu	37	5	139494291	139494291	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:139494291C>T	ENST00000331327.3	+	1	584	c.525C>T	c.(523-525)aaC>aaT	p.N175N		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	175					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGGTCAACCGGGGGCCTG	0.652000													11	5					0	0	0.001368	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144877221	144877221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:144877221C>T	ENST00000369359.4	-	31	4912	c.4874G>A	c.(4873-4875)cGg>cAg	p.R1625Q	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1445Q|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1489Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1489Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1625Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1489	NBPF.				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)		TATTTTTTGCCGTAGGTAAGA	0.418000			T	PDGFRB	MPD								9	85					0	0	0.000673	0	0
EPHA6	285220	broad.mit.edu	37	3	96945212	96945212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:96945212G>A	ENST00000389672.5	+	4	1257	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	EPHA6_ENST00000470610.2_Missense_Mutation_p.E407K	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	312	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E313K(2)|p.E407K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTGTCAGTGTGAAAAGGGTTA	0.398000													63	104					0	0	0.003610	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19199372	19199372	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:19199372G>A	ENST00000375341.3	-	15	1916	c.1659C>T	c.(1657-1659)ccC>ccT	p.P553P	RP13-279N23.2_ENST00000494072.3_Intron|ALDH4A1_ENST00000290597.5_Silent_p.P553P|ALDH4A1_ENST00000538839.1_Silent_p.P502P|ALDH4A1_ENST00000538309.1_Silent_p.P493P	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	553					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AGTCCCCCAGGGGCTTATGTG	0.622000													42	37					0	0	0.003610	0	0
PDE1A	5136	broad.mit.edu	37	2	183053786	183053786	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:183053786C>T	ENST00000435564.1	-	11	1375	c.1173_splice	c.e11-1	p.G392_splice	PDE1A_ENST00000536095.1_Splice_Site_p.G288_splice|PDE1A_ENST00000410103.1_Splice_Site_p.G392_splice|PDE1A_ENST00000346717.4_Splice_Site_p.G358_splice|PDE1A_ENST00000456212.1_Splice_Site_p.G392_splice|PDE1A_ENST00000351439.5_Splice_Site_p.G376_splice|PDE1A_ENST00000331935.6_Splice_Site_p.G392_splice|PDE1A_ENST00000358139.2_Splice_Site_p.G392_splice|PDE1A_ENST00000409365.1_Splice_Site_p.G376_splice	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	392	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.G392E(2)|p.G392V(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTCTTTATCTCCCTGGAGAAA	0.393000													35	57					0	0	0.003755	0	0
DCX	1641	broad.mit.edu	37	X	110574170	110574170	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:110574170C>T	ENST00000338081.3	-	5	1322	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	DCX_ENST00000488120.1_Missense_Mutation_p.R303Q|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.R303Q|DCX_ENST00000356915.2_Missense_Mutation_p.R303Q|DCX_ENST00000356220.3_Missense_Mutation_p.R303Q	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	384	Pro/Ser-rich.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGACTTGCTTCGGCGCATAGG	0.527000													43	8					0	0	0.002222	0	0
ITGB3	3690	broad.mit.edu	37	17	45367595	45367595	+	Missense_Mutation	SNP	C	C	T	rs139342659		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45367595C>T	ENST00000560629.1	+	8	1045	c.1045C>T	c.(1045-1047)Cat>Tat	p.H349Y	ITGB3_ENST00000571680.1_Silent_p.S360S|ITGB3_ENST00000559488.1_Silent_p.S360S|ITGB3_ENST00000435993.2_Silent_p.S313S			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GGGTTCTGTCCATGGATTCCA	0.493000													85	27					0	0	0.003610	0	0
MAEA	10296	broad.mit.edu	37	4	1309241	1309241	+	Silent	SNP	C	C	T	rs141399202	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:1309241C>T	ENST00000303400.4	+	3	372	c.309C>T	c.(307-309)atC>atT	p.I103I	MAEA_ENST00000514708.1_Silent_p.I103I|MAEA_ENST00000510794.1_Silent_p.I102I|MAEA_ENST00000505839.1_Silent_p.I55I|MAEA_ENST00000505177.2_Silent_p.I103I|MAEA_ENST00000264750.6_Silent_p.I103I|MAEA_ENST00000452175.2_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	103	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			AGCGCCGGATCGAGCACCTCA	0.642000													27	33					0	0	0.001786	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660022	77660022	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77660022C>T	ENST00000296043.6	+	5	1649	c.696C>T	c.(694-696)taC>taT	p.Y232Y	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	232					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GTGGGGCATACCCACCCTGTC	0.572000													13	28					0	0	0.002450	0	0
RORA	6095	broad.mit.edu	37	15	60919495	60919495	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:60919495G>A	ENST00000261523.5	-	1	167	c.79C>T	c.(79-81)Cga>Tga	p.R27*	RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000335670.6_Intron|RORA_ENST00000309157.4_Nonsense_Mutation_p.R27*|RORA_ENST00000560004.1_Intron	NM_134260.2	NP_599022.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	27	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGTCCAGTTCGAAGACAATGA	0.532000													29	48					0	0	0.001512	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1143829	1143829	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1143829T>C	ENST00000328449.5	-	4	704	c.431A>G	c.(430-432)aAc>aGc	p.N144S		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	144	C1q.					collagen				lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				GCCGTCCAGGTTCACCAGCTC	0.692000													6	18					0	0	0.001168	0	0
CLEC4F	165530	broad.mit.edu	37	2	71036469	71036469	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:71036469C>T	ENST00000272367.2	-	7	1780	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V	CLEC4F_ENST00000426626.1_Intron	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	568	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TCCCAGAATTCACAATAATAT	0.527000													13	18					0	0	0.001216	0	0
LRP1B	53353	broad.mit.edu	37	2	141625219	141625219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141625219G>A	ENST00000389484.3	-	27	5490	c.4519C>T	c.(4519-4521)Cag>Tag	p.Q1507*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1507					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGTTTTCTGAATCACACTG	0.473000										TSP Lung(27;0.18)			40	49					0	0	0.002222	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307853	46307853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:46307853G>A	ENST00000221538.3	-	3	1452	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	RSPH6A_ENST00000597055.1_Missense_Mutation_p.P437L|RSPH6A_ENST00000600188.1_Missense_Mutation_p.P173L	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	437						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						CCGCGTCCATGGCAGGCCCGG	0.612000													27	56					0	0	0.001271	0	0
TNXB	7148	broad.mit.edu	37	6	32029481	32029481	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32029481G>A	ENST00000375244.3	-	21	7386	c.7185C>T	c.(7183-7185)acC>acT	p.T2395T	TNXB_ENST00000375247.2_Silent_p.T2395T			P22105	TENX_HUMAN	tenascin XB	2455	Fibronectin type-III 16.				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						TGGGGCTGGGGGTCTCTTCCT	0.627000													84	111					0	0	0.003610	0	0
CYP2C9	1559	broad.mit.edu	37	10	96701771	96701771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96701771G>A	ENST00000260682.6	+	2	337	c.325G>A	c.(325-327)Gga>Aga	p.G109R	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	109					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGCTAACAGAGGATTTGGTAG	0.512000													35	55					0	0	0.004878	0	0
NEB	4703	broad.mit.edu	37	2	152410366	152410366	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152410366C>T	ENST00000397345.3	-	126	19804	c.19602G>A	c.(19600-19602)agG>agA	p.R6534R	NEB_ENST00000604864.1_Silent_p.R6534R|NEB_ENST00000603639.1_Silent_p.R6534R|NEB_ENST00000172853.10_Silent_p.R4833R|NEB_ENST00000427231.2_Silent_p.R6534R|NEB_ENST00000409198.1_Silent_p.R4833R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4833	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGTGACTTTCCTGACGTGAT	0.552000													24	23					0	0	0.002780	0	0
C7orf34	135927	broad.mit.edu	37	7	142636725	142636725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142636725C>T	ENST00000409607.3	+	1	123	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	3						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					GTCCATGCCTCCCCTGGCCCC	0.657000													9	25					0	0	0.000443	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48135321	48135321	+	Silent	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:48135321G>C	ENST00000405493.2	-	19	1973	c.1764C>G	c.(1762-1764)ctC>ctG	p.L588L	RAPGEF3_ENST00000449771.2_Silent_p.L630L|RAPGEF3_ENST00000171000.4_Silent_p.L588L|RAPGEF3_ENST00000389212.3_Silent_p.L630L|RAPGEF3_ENST00000549151.1_Silent_p.L588L|RAPGEF3_ENST00000548919.1_Silent_p.L539L|RP1-197B17.3_ENST00000547799.1_lincRNA	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	588					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGACAACAAAGAGACGCTCAT	0.592000													18	44					0	0	0.001882	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923117	35923117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:35923117C>T	ENST00000490799.1	-	17	2397	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K	SLC26A8_ENST00000355574.2_Missense_Mutation_p.E682K|SLC26A8_ENST00000394602.2_Missense_Mutation_p.E577K	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	682	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCCAAACTTCCTCCACCTCC	0.498000													38	48					0	0	0.001485	0	0
MC2R	4158	broad.mit.edu	37	18	13885422	13885422	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:13885422G>A	ENST00000327606.3	-	2	276	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	32					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGGAAATTGTGAAAAATATCT	0.408000													23	22					0	0	0.001882	0	0
SLC39A10	57181	broad.mit.edu	37	2	196548522	196548522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196548522C>T	ENST00000409086.3	+	3	1383	c.1108C>T	c.(1108-1110)Caa>Taa	p.Q370*	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Nonsense_Mutation_p.Q370*	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	370					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ATTGTTATATCAAATCGACAG	0.353000													36	47					0	0	0.002836	0	0
YES1	7525	broad.mit.edu	37	18	743027	743027	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:743027G>A	ENST00000584307.1	-	8	1121	c.951C>T	c.(949-951)ttC>ttT	p.F317F	YES1_ENST00000314574.4_Silent_p.F317F|YES1_ENST00000577961.1_Silent_p.F322F			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	317	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CTTCTTGAAGGAAAGCTTCTG	0.323000													53	54					0	0	0.003610	0	0
ZNF679	168417	broad.mit.edu	37	7	63726689	63726689	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:63726689C>T	ENST00000421025.1	+	5	947	c.678C>T	c.(676-678)acC>acT	p.T226T	ZNF679_ENST00000255746.4_Silent_p.T226T	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GCTCTTCAACCCTTTCTAAAC	0.398000													5	4					0	0	0.000602	0	0
ABCA10	10349	broad.mit.edu	37	17	67210953	67210953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:67210953G>A	ENST00000269081.4	-	10	1807	c.898C>T	c.(898-900)Cct>Tct	p.P300S	ABCA10_ENST00000416101.2_Missense_Mutation_p.P300S|ABCA10_ENST00000432313.2_Missense_Mutation_p.P300S	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	300					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAGGGATCAGGAAAAATAACA	0.274000													86	20					0	0	0.003610	0	0
DLX3	1747	broad.mit.edu	37	17	48072064	48072064	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48072064T>C	ENST00000434704.2	-	1	524	c.299A>G	c.(298-300)gAg>gGg	p.E100G		NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	100						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAGCGGCTGCTCCCGATACGC	0.622000													47	5					0	0	0.003610	0	0
GMEB2	26205	broad.mit.edu	37	20	62223911	62223911	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62223911G>A	ENST00000266068.1	-	7	1282	c.804C>T	c.(802-804)gtC>gtT	p.V268V	GMEB2_ENST00000370077.1_Silent_p.V268V|GMEB2_ENST00000370069.1_Silent_p.V217V			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	268					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GAGGGTCCTGGACCCGCTGCT	0.652000													24	11					0	0	0.002780	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160253700	160253700	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:160253700C>T	ENST00000264431.4	+	11	1922	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	501					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)		GTCGCTACTCCATTCCAGATC	0.393000													21	22					0	0	0.001523	0	0
SI	6476	broad.mit.edu	37	3	164757744	164757744	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:164757744C>T	ENST00000264382.3	-	19	2237	c.2175G>A	c.(2173-2175)acG>acA	p.T725T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	725	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCAGCTGTTCGTATCCTCAT	0.333000										HNSCC(35;0.089)			59	84					0	0	0.003610	0	0
PDIA4	9601	broad.mit.edu	37	7	148702429	148702429	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:148702429G>A	ENST00000286091.4	-	9	1558	c.1326C>T	c.(1324-1326)gcC>gcT	p.A442A		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	442					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GGAAGTCCTTGGCCACCTCTA	0.577000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	60					0	0	0.003330	0	0
AK5	26289	broad.mit.edu	37	1	77806190	77806190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:77806190G>A	ENST00000344720.5	+	6	1776	c.750G>A	c.(748-750)atG>atA	p.M250I	AK5_ENST00000354567.2_Missense_Mutation_p.M276I	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	276					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GGAGACTAATGAACTTCAAGC	0.438000													29	43					0	0	0.001061	0	0
BCO2	83875	broad.mit.edu	37	11	112086976	112086976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:112086976C>T	ENST00000357685.5	+	11	1684	c.1549C>T	c.(1549-1551)Cct>Tct	p.P517S	BCO2_ENST00000532593.1_Missense_Mutation_p.P412S|BCO2_ENST00000531169.1_Missense_Mutation_p.P483S|BCO2_ENST00000361053.4_Missense_Mutation_p.P444S|BCO2_ENST00000393032.2_Missense_Mutation_p.P483S|BCO2_ENST00000526088.1_Missense_Mutation_p.P477S|BCO2_ENST00000438022.1_Missense_Mutation_p.P483S			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	517					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCCCTCAGAACCTGTTTTTGT	0.418000													30	41					0	0	0.003755	0	0
MS4A10	341116	broad.mit.edu	37	11	60558557	60558557	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60558557G>A	ENST00000308287.1	+	3	390	c.294G>A	c.(292-294)ggG>ggA	p.G98G		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	98						integral to membrane	receptor activity	p.G98G(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						CATTCTGGGGGGCTGCCTCTG	0.582000													23	30					0	0	0.001061	0	0
LRRC7	57554	broad.mit.edu	37	1	70291500	70291500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:70291500C>T	ENST00000310961.5	+	6	810	c.392C>T	c.(391-393)cCc>cTc	p.P131L	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.P164L|LRRC7_ENST00000035383.5_Missense_Mutation_p.P126L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	126						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						AGTGTCAATCCCATTTCTAAG	0.264000													11	24					0	0	0.002450	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688992	26688992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26688992C>T	ENST00000529632.2	+	2	911	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	SEZ6L_ENST00000248933.6_Missense_Mutation_p.P239S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P239S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P239S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P12S|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P239S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P12S	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	239						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGACACCAGCCCCATGGCCCT	0.632000													14	10					0	0	0.003163	0	0
IGFL3	388555	broad.mit.edu	37	19	46627529	46627529	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:46627529A>G	ENST00000341415.2	-	2	99	c.75T>C	c.(73-75)acT>acC	p.T25T	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	25						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CCTTACCTGTAGTTCCTTTTG	0.453000													23	29					0	0	0.005443	0	0
AMPD3	272	broad.mit.edu	37	11	10503757	10503757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:10503757G>A	ENST00000444303.2	+	3	569	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	AMPD3_ENST00000396554.3_Missense_Mutation_p.E201K	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	192					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCACCTCCGGAAGAGGGCCT	0.607000													22	25					0	0	0.003954	0	0
CHD6	84181	broad.mit.edu	37	20	40080653	40080653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:40080653C>T	ENST00000373233.3	-	22	3513	c.3336G>A	c.(3334-3336)tgG>tgA	p.W1112*	CHD6_ENST00000309279.7_Nonsense_Mutation_p.W595*	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1112					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGATGTCCTTCCACCGGCCCC	0.547000													5	23					0	0	0.000602	0	0
CASK	8573	broad.mit.edu	37	X	41437616	41437616	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:41437616G>A	ENST00000318588.9	-	15	1525	c.1480C>T	c.(1480-1482)Caa>Taa	p.Q494*	CASK_ENST00000378163.1_Nonsense_Mutation_p.Q494*|CASK_ENST00000378158.1_Nonsense_Mutation_p.Q494*|CASK_ENST00000378154.1_Nonsense_Mutation_p.Q494*|CASK_ENST00000378166.4_Nonsense_Mutation_p.Q494*|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000421587.2_Nonsense_Mutation_p.Q488*|CASK_ENST00000361962.4_Nonsense_Mutation_p.Q494*|CASK_ENST00000442742.2_Nonsense_Mutation_p.Q494*			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	494	PDZ.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GTGTTCTTTTGAAACTGTACC	0.423000													18	2					0	0	0.001523	0	0
MYO18B	84700	broad.mit.edu	37	22	26422841	26422841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26422841C>T	ENST00000335473.7	+	43	7151	c.6901C>T	c.(6901-6903)Ctc>Ttc	p.L2301F	MYO18B_ENST00000536101.1_Missense_Mutation_p.L2301F|MYO18B_ENST00000407587.2_Missense_Mutation_p.L2302F	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2301						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGAGGGAAACCTCTCGCTGAG	0.612000													5	9					0	0	0.000602	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30952040	30952040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:30952040C>T	ENST00000402321.1	-	3	489	c.172G>A	c.(172-174)Gag>Aag	p.E58K	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.E58K|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.E58K|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.E58K|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.E58K|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.E58K|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.E58K			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	58					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCCTCTGGCTCGAGTGCAGGT	0.692000													18	27					0	0	0.002780	0	0
XKR6	286046	broad.mit.edu	37	8	10755694	10755694	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:10755694A>G	ENST00000416569.2	-	3	1720	c.1694T>C	c.(1693-1695)gTg>gCg	p.V565A	XKR6_ENST00000304437.2_Missense_Mutation_p.V286A	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	565						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CATGGGTCTCACTTGGAAAAC	0.587000													39	7					0	0	0.002222	0	0
OR51I1	390063	broad.mit.edu	37	11	5462550	5462550	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5462550G>A	ENST00000380211.1	-	1	194	c.195C>T	c.(193-195)ctC>ctT	p.L65L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGAGCATAGAGAGGAAGTAGT	0.448000													20	37					0	0	0.000958	0	0
OR2T11	127077	broad.mit.edu	37	1	248790028	248790028	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248790028G>A	ENST00000330803.2	-	1	463	c.402C>T	c.(400-402)aaC>aaT	p.N134N		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTTCTTGCGGTTCATCAGGA	0.542000													30	31					0	0	0.001512	0	0
RPL3	6122	broad.mit.edu	37	22	39710186	39710186	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:39710186T>A	ENST00000216146.4	-	7	1050	c.877A>T	c.(877-879)Atc>Ttc	p.I293F	RPL3_ENST00000401609.1_Missense_Mutation_p.I241F|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	293					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					CCGTCCTTGATAAGGTAGCCC	0.478000											OREG0026574	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	40					0	0	0.001786	0	0
NCAM1	4684	broad.mit.edu	37	11	113141059	113141059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:113141059G>A	ENST00000316851.7	+	16	2251	c.2251G>A	c.(2251-2253)Gga>Aga	p.G751R	NCAM1-AS1_ENST00000526229.1_RNA|NCAM1-AS1_ENST00000533638.1_RNA|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	761					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAACCTGTGTGGAAAAGCCGG	0.592000													22	40					0	0	0.002299	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874951	80874951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:80874951C>T	ENST00000466387.1	+	22	3396	c.2672C>T	c.(2671-2673)tCg>tTg	p.S891L	CTNNA2_ENST00000343114.3_Missense_Mutation_p.S570L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S891L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S939L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S846L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S925L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S891L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	939					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						AAACACATTTCGCCTGTACAG	0.403000													59	87					0	0	0.003610	0	0
LRTM1	57408	broad.mit.edu	37	3	54959224	54959224	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:54959224G>A	ENST00000273286.5	-	2	188	c.26C>T	c.(25-27)tCc>tTc	p.S9F	CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_5'UTR	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	9						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AATCACACTGGAAAACAGGAG	0.478000													12	19					0	0	0.001855	0	0
ROS1	6098	broad.mit.edu	37	6	117641174	117641174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117641174C>T	ENST00000368508.3	-	36	5995	c.5797G>A	c.(5797-5799)Gag>Aag	p.E1933K	GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Missense_Mutation_p.E1927K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1933					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTTCAATCTCCTCTTGGGTT	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								17	22					0	0	0.004007	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136302972	136302972	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:136302972C>T	ENST00000371929.3	+	13	1983	c.1539C>T	c.(1537-1539)ccC>ccT	p.P513P	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.P482P|ADAMTS13_ENST00000355699.2_Silent_p.P513P|ADAMTS13_ENST00000536611.1_Silent_p.P185P|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	513					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CAAGTGGCCCCCGGGAGGACG	0.627000													60	18					0	0	0.003610	0	0
CD53	963	broad.mit.edu	37	1	111435132	111435132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:111435132G>A	ENST00000271324.5	+	3	341	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	CD53_ENST00000429072.2_Missense_Mutation_p.E77K	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	77					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CTCTATCAAGGAAAACAAGTG	0.517000													55	122					0	0	0.003610	0	0
EBF2	64641	broad.mit.edu	37	8	25899710	25899710	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:25899710T>A	ENST00000520164.1	-	2	726	c.189A>T	c.(187-189)aaA>aaT	p.K63N		NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	63	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGAAGTTGGATTTCCTCAAGT	0.582000													20	6					0	0	0.000958	0	0
ENPP4	22875	broad.mit.edu	37	6	46107842	46107842	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46107842G>A	ENST00000321037.4	+	2	752	c.522G>A	c.(520-522)tcG>tcA	p.S174S		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAAACAATTCGAACCCACCAG	0.388000													31	43					0	0	0.001512	0	0
HK2	3099	broad.mit.edu	37	2	75107650	75107650	+	Silent	SNP	C	C	T	rs142174869		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:75107650C>T	ENST00000290573.2	+	10	2124	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	HK2_ENST00000409174.1_Silent_p.P480P	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	508	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCAGTGCCCCCGTCAAGATGC	0.597000													13	20					0	0	0.001855	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659664	24659664	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:24659664C>T	ENST00000414583.2	+	0	3189					NR_003714.1																						CCACCTCCTCCATGCCTCGGC	0.627000													7	13					0	0	0.003080	0	0
SSX5	6758	broad.mit.edu	37	X	48047102	48047102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:48047102C>T	ENST00000311798.1	-	8	707	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	SSX5_ENST00000376923.1_Missense_Mutation_p.E178K|SSX5_ENST00000347757.1_Missense_Mutation_p.E178K	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGATCTCTTCATAAATCACC	0.488000													96	22					0	0	0.003610	0	0
PRMT1	3276	broad.mit.edu	37	19	50187245	50187245	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:50187245C>T	ENST00000532489.1	+	6	842	c.336C>T	c.(334-336)atC>atT	p.I112I	PRMT1_ENST00000454376.2_Silent_p.I158I|PRMT1_ENST00000391851.4_Silent_p.I140I			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	139						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		AGGTGGACATCATCATCAGCG	0.632000													15	30					0	0	0.002450	0	0
OR4C16	219428	broad.mit.edu	37	11	55340247	55340247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55340247C>T	ENST00000314634.3	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTAATATTCTCCTATGTCATC	0.418000													23	30					0	0	0.002299	0	0
C20orf195	79025	broad.mit.edu	37	20	62187896	62187896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62187896G>A	ENST00000370098.3	+	2	972	c.880G>A	c.(880-882)Gag>Aag	p.E294K	C20orf195_ENST00000370097.1_Missense_Mutation_p.E294K	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	294										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCTGGTGTACGAGCCCTGGAG	0.597000													56	117					0	0	0.003610	0	0
SPRR4	163778	broad.mit.edu	37	1	152944435	152944435	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152944435G>A	ENST00000328051.2	+	2	118	c.69G>A	c.(67-69)gtG>gtA	p.V23V		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	23	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCAGCAAGTGAAGCAGCCTT	0.572000													23	36					0	0	0.003954	0	0
DEC1	50514	broad.mit.edu	37	9	118162708	118162708	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:118162708G>A	ENST00000374016.1	+	6	603	c.84G>A	c.(82-84)atG>atA	p.M28I		NM_017418.2	NP_059114.1	Q9P2X7	DEC1_HUMAN	deleted in esophageal cancer 1	28					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						tgttacacatgatggtaggtg	0.458000													61	12					0	0	0.003610	0	0
L1TD1	54596	broad.mit.edu	37	1	62672548	62672548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:62672548G>A	ENST00000498273.1	+	3	543	c.248G>A	c.(247-249)gGa>gAa	p.G83E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	83										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gttttagggggaaaagctaca	0.353000													24	48					0	0	0.002299	0	0
HEG1	57493	broad.mit.edu	37	3	124739768	124739768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:124739768G>A	ENST00000311127.4	-	4	1187	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	374						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGGGTGAAAGAAGGACTGAG	0.488000													12	29					0	0	0.001368	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545136	196545136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196545136C>T	ENST00000409086.3	+	2	645	c.370C>T	c.(370-372)Cac>Tac	p.H124Y	SLC39A10_ENST00000541054.1_Intron|SLC39A10_ENST00000359634.5_Missense_Mutation_p.H124Y	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	124	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AAAGCATTTTCACTCACATAA	0.368000													31	44					0	0	0.003271	0	0
ZNF598	90850	broad.mit.edu	37	16	2050212	2050212	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2050212G>A	ENST00000563630.1	-	9	1415	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P	ZNF598_ENST00000431526.1_Silent_p.P446P|ZNF598_ENST00000562103.1_Silent_p.P391P			Q86UK7	ZN598_HUMAN	zinc finger protein 598	446						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CAGAGAGGCTGGGGAAGTCTT	0.662000													30	40					0	0	0.004289	0	0
TENM3	55714	broad.mit.edu	37	4	183245390	183245390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:183245390G>A	ENST00000511685.1	+	2	340	c.217G>A	c.(217-219)Gag>Aag	p.E73K	TENM3_ENST00000406950.2_Missense_Mutation_p.E73K					teneurin transmembrane protein 3																		AGAAGCAGACGAGTTCACTAG	0.458000													22	24					0	0	0.003330	0	0
AHNAK	79026	broad.mit.edu	37	11	62284544	62284544	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62284544G>A	ENST00000378024.4	-	5	17619	c.17345C>T	c.(17344-17346)tCa>tTa	p.S5782L	AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5782					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCACTGAATGAATTTGAGCG	0.522000													34	39					0	0	0.005524	0	0
TTN	7273	broad.mit.edu	37	2	179436373	179436373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179436373G>A	ENST00000589042.1	-	326	74710	c.74486C>T	c.(74485-74487)tCc>tTc	p.S24829F	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S15764F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S23188F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S15889F|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S22261F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S15956F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23188	Fibronectin type-III 80.						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)			TGGGCCCCAGGAAAGAGTAAT	0.428000													19	28					0	0	0.006122	0	0
TNS4	84951	broad.mit.edu	37	17	38641186	38641186	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38641186G>A	ENST00000254051.6	-	5	1520	c.1362C>T	c.(1360-1362)atC>atT	p.I454I		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	454	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTCTCGGGTGATGTTTGGCT	0.537000													33	9					0	0	0.001287	0	0
DNAJC12	56521	broad.mit.edu	37	10	69571283	69571283	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:69571283G>A	ENST00000339758.7	-	3	380	c.296C>T	c.(295-297)aCg>aTg	p.T99M	DNAJC12_ENST00000483798.2_Splice_Site_p.T129_splice|DNAJC12_ENST00000225171.2_Splice_Site_p.T99_splice	NM_201262.1	NP_957714.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	99					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						GAAACCCACCGTCTTCACTGA	0.517000													39	53					0	0	0.001951	0	0
SYT1	6857	broad.mit.edu	37	12	79693274	79693274	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:79693274G>A	ENST00000261205.4	+	8	1410	c.753G>A	c.(751-753)gtG>gtA	p.V251V	SYT1_ENST00000393240.3_Silent_p.V251V|SYT1_ENST00000457153.2_Silent_p.V248V|SYT1_ENST00000552744.1_Silent_p.V251V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	251	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGAACACAGTGGATTTTGGCC	0.428000													23	32					0	0	0.002299	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074200	46074200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46074200C>T	ENST00000391618.1	-	1	376	c.332G>A	c.(331-333)gGc>gAc	p.G111D	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	111						keratin filament				lung(4)|ovary(1)|prostate(1)	6						TGCTCAGCAGCCAGTGGGGGT	0.622000													13	23					0	0	0.004990	0	0
SALL2	6297	broad.mit.edu	37	14	21992346	21992346	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:21992346G>A	ENST00000327430.3	-	2	1810	c.1516C>T	c.(1516-1518)Cct>Tct	p.P506S	SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.P369S|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	506							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TTGAAAGCAGGGAGTCCTGGA	0.562000													4	22					0	0	0.000248	0	0
PRDM1	639	broad.mit.edu	37	6	106543553	106543553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:106543553G>A	ENST00000369096.4	+	3	589	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	PRDM1_ENST00000369091.2_Missense_Mutation_p.E83K	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	119	SET.				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E83K(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTAATAGGTGAAATCTACAC	0.373000			"""D, N, Mis, F, S"""		DLBCL								16	23					0	0	0.004990	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497337	39497337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:39497337G>A	ENST00000442487.3	+	3	373	c.246G>A	c.(244-246)tgG>tgA	p.W82*	APOBEC3H_ENST00000421988.2_Nonsense_Mutation_p.W82*|APOBEC3H_ENST00000348946.4_Nonsense_Mutation_p.W82*|APOBEC3H_ENST00000401756.1_Nonsense_Mutation_p.W82*	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	82					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					ACCTCACGTGGAGCCCCTGCT	0.537000													21	34					0	0	0.002299	0	0
CRH	1392	broad.mit.edu	37	8	67089271	67089271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:67089271G>A	ENST00000276571.3	-	2	888	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	148					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TCTCTCTCCGGTGCCTCCTGG	0.682000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	8					0	0	0.004482	0	0
SHE	126669	broad.mit.edu	37	1	154459121	154459121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:154459121C>T	ENST00000304760.2	-	4	1149	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	355										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCACTGTCTCCTCCCTGAAG	0.567000													47	46					0	0	0.003610	0	0
IL17F	112744	broad.mit.edu	37	6	52103713	52103713	+	Silent	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:52103713G>T	ENST00000336123.4	-	2	176	c.69C>A	c.(67-69)gcC>gcA	p.A23A		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	23					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					CACTCAGAAAGGCAAGCCCCA	0.502000													36	39					3.43241e-23	6.45934e-23	0.002222	1	0
MECR	51102	broad.mit.edu	37	1	29520672	29520672	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:29520672G>A	ENST00000373791.3	-	10	1128	c.756C>T	c.(754-756)atC>atT	p.I252I	MECR_ENST00000263702.6_Silent_p.I328I	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	328					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		ACAGTGTGAGGATCAGCTCCT	0.612000													42	74					0	0	0.001951	0	0
NBEA	26960	broad.mit.edu	37	13	35733949	35733949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:35733949C>T	ENST00000400445.3	+	22	4175	c.3641C>T	c.(3640-3642)tCa>tTa	p.S1214L	NBEA_ENST00000310336.4_Missense_Mutation_p.S1214L|NBEA_ENST00000379939.2_Missense_Mutation_p.S1214L|NBEA_ENST00000540320.1_Missense_Mutation_p.S1214L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1214						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CATACAACTTCAGATGGAATG	0.398000													15	25					0	0	0.003163	0	0
OR5L1	219437	broad.mit.edu	37	11	55578952	55578952	+	Missense_Mutation	SNP	G	G	A	rs149863919		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55578952G>A	ENST00000333973.2	+	1	99	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E4K(1)		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)				CATGGGCAAGGAAAACTGCAC	0.393000													50	73					0	0	0.003610	0	0
SMYD1	150572	broad.mit.edu	37	2	88390602	88390602	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:88390602C>T	ENST00000419482.2	+	4	685	c.600C>T	c.(598-600)aaC>aaT	p.N200N	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.N200N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	200	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TCTTCCCCAACCTGGGCCTGG	0.507000													50	60					0	0	0.003610	0	0
DEFA5	1670	broad.mit.edu	37	8	6912991	6912991	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:6912991C>T	ENST00000330590.2	-	2	283	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	83					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCACTGATTTCACACACCCCG	0.527000													19	3					0	0	0.002780	0	0
HIP1	3092	broad.mit.edu	37	7	75189160	75189160	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:75189160G>A	ENST00000336926.6	-	14	1277	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A	HIP1_ENST00000434438.2_Silent_p.A417A	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	417	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTGCTGCTCGGCCAGATCTG	0.672000			T	PDGFRB	CMML								37	5					0	0	0.001287	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42111801	42111801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42111801C>T	ENST00000457542.2	+	22	2720	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	MAPKBP1_ENST00000260357.7_Missense_Mutation_p.P651S|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.P812S|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.P695S|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.P818S	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	818								p.P812S(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCCTCGGTCCCCAGCCCAGC	0.612000													21	39					0	0	0.004656	0	0
SLC4A7	9497	broad.mit.edu	37	3	27460060	27460060	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:27460060A>T	ENST00000295736.5	-	11	1619	c.1549T>A	c.(1549-1551)Ttt>Att	p.F517I	SLC4A7_ENST00000445684.1_Missense_Mutation_p.F513I|SLC4A7_ENST00000455077.1_Missense_Mutation_p.F398I|SLC4A7_ENST00000425128.2_Missense_Mutation_p.F509I|SLC4A7_ENST00000437179.1_Missense_Mutation_p.F398I|SLC4A7_ENST00000440156.1_Missense_Mutation_p.F513I|SLC4A7_ENST00000388777.4_Missense_Mutation_p.F67I|SLC4A7_ENST00000446700.1_Missense_Mutation_p.F509I|SLC4A7_ENST00000435667.2_Missense_Mutation_p.F402I|SLC4A7_ENST00000428386.1_Missense_Mutation_p.F393I|SLC4A7_ENST00000454389.1_Missense_Mutation_p.F526I	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	517						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TGATCTAAAAATTCATCAATT	0.353000													7	18					0	0	0.001984	0	0
GLI3	2737	broad.mit.edu	37	7	42064977	42064977	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:42064977C>T	ENST00000395925.3	-	9	1327		c.e9-1		GLI3_ENST00000479210.1_Splice_Site	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3						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						TGGGCTTGTTCTGCTGGTCAC	0.502000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				25	21					0	0	0.005443	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044163	75044163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75044163C>T	ENST00000343932.4	+	4	1073	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	337					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GTGACCAAGCCTGAGATACAG	0.512000													24	37					0	0	0.004656	0	0
PDCD1	5133	broad.mit.edu	37	2	242793338	242793338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:242793338C>T	ENST00000334409.5	-	5	808	c.739G>A	c.(739-741)Gag>Aag	p.E247K		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	247					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GTGGCATACTCCGTCTGCTCA	0.647000													16	26					0	0	0.006122	0	0
IGSF1	3547	broad.mit.edu	37	X	130409593	130409593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:130409593C>T	ENST00000370904.1	-	22	3926	c.3016G>A	c.(3016-3018)Gga>Aga	p.G1006R	IGSF1_ENST00000370903.3_Missense_Mutation_p.G1020R|IGSF1_ENST00000361420.3_Missense_Mutation_p.G1015R|IGSF1_ENST00000370910.1_Missense_Mutation_p.G1006R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1015	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGGTGGATCCCCAGAGCTGC	0.532000													20	3					0	0	0.001882	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913467	136913467	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136913467C>T	ENST00000359015.4	-	23	3429	c.3069G>A	c.(3067-3069)gaG>gaA	p.E1023E	MAP3K5_ENST00000355845.4_Silent_p.E270E	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1023					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTTCAAAATTCTCATCTGGAA	0.428000													47	78					0	0	0.003610	0	0
DCN	1634	broad.mit.edu	37	12	91546958	91546958	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:91546958G>A	ENST00000052754.5	-	6	1162	c.661C>T	c.(661-663)Cct>Tct	p.P221S	DCN_ENST00000393155.1_Missense_Mutation_p.P221S|DCN_ENST00000425043.1_Missense_Mutation_p.P74S|DCN_ENST00000228329.5_Missense_Mutation_p.P112S|DCN_ENST00000547568.2_Missense_Mutation_p.P74S|DCN_ENST00000552962.1_Missense_Mutation_p.P221S|DCN_ENST00000420120.2_Missense_Mutation_p.P112S|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	221					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTAAGGGAAGGAGGAAGACCT	0.343000													30	44					0	0	0.001786	0	0
MAP9	79884	broad.mit.edu	37	4	156294331	156294331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:156294331C>T	ENST00000311277.4	-	4	701	c.438G>A	c.(436-438)atG>atA	p.M146I	MAP9_ENST00000515654.1_Missense_Mutation_p.M146I|AC097467.2_ENST00000596165.1_RNA|MAP9_ENST00000379248.2_Missense_Mutation_p.M74I	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	146			M -> V (in dbSNP:rs34082815).		cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GTTTAGGTTTCATTTTTATTT	0.303000													21	32					0	0	0.001882	0	0
PAK7	57144	broad.mit.edu	37	20	9561072	9561072	+	Missense_Mutation	SNP	G	G	A	rs147760246		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:9561072G>A	ENST00000378429.3	-	5	1256	c.710C>T	c.(709-711)tCt>tTt	p.S237F	PAK7_ENST00000353224.5_Missense_Mutation_p.S237F|PAK7_ENST00000378423.1_Missense_Mutation_p.S237F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	237	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGCAGTTCTAGAAGGTGTGAA	0.522000													21	20					0	0	0.001882	0	0
EPX	8288	broad.mit.edu	37	17	56276520	56276520	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:56276520C>T	ENST00000225371.5	+	8	1350	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	414					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TGGAGACAAACTGTACAATGA	0.577000													11	4					0	0	0.001368	0	0
TMCO4	255104	broad.mit.edu	37	1	20107098	20107098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:20107098G>A	ENST00000294543.6	-	4	395	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	TMCO4_ENST00000375127.1_Nonsense_Mutation_p.Q52*|TMCO4_ENST00000375122.2_Nonsense_Mutation_p.Q52*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	52						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGAAATAACTGGGACAGGGAG	0.597000													17	16					0	0	0.001216	0	0
SLC3A1	6519	broad.mit.edu	37	2	44513207	44513207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:44513207G>A	ENST00000260649.6	+	4	878	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SLC3A1_ENST00000409741.1_Missense_Mutation_p.E268K|SLC3A1_ENST00000410056.3_Missense_Mutation_p.E268K|SLC3A1_ENST00000409380.1_5'UTR|SLC3A1_ENST00000409387.1_Missense_Mutation_p.E268K|SLC3A1_ENST00000409229.3_Missense_Mutation_p.E268K	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	268			E -> K (in CSNU1; reduction in amino acid transport activity).		carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GCACTTTGACGAAGTGCGAAA	0.358000													50	77					0	0	0.003610	0	0
DNMT1	1786	broad.mit.edu	37	19	10247957	10247957	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:10247957C>T	ENST00000340748.4	-	36	4481		c.e36-1		DNMT1_ENST00000540357.1_Splice_Site|DNMT1_ENST00000359526.4_Splice_Site			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1						chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CACTCATGTCCTGAAAGAGTG	0.637000													3	10					0	0	0.000248	0	0
NKX6-1	4825	broad.mit.edu	37	4	85419046	85419046	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:85419046C>T	ENST00000295886.4	-	1	557	c.336G>A	c.(334-336)ggG>ggA	p.G112G		NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	112	Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		GCAGGGCGGCCCCCGAGGCCA	0.751000													4	3					0	0	0.000248	0	0
ATP8B4	79895	broad.mit.edu	37	15	50336873	50336873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:50336873G>A	ENST00000284509.6	-	5	359	c.218C>T	c.(217-219)tCc>tTc	p.S73F	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S73F	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	73					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S73F(1)		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)		GGTCAAGGAGGAAATTTCTGG	0.353000													13	14					0	0	0.002450	0	0
TRIM68	55128	broad.mit.edu	37	11	4621703	4621703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4621703G>A	ENST00000300747.5	-	7	1550	c.1261C>T	c.(1261-1263)Cgc>Tgc	p.R421C		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	421	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCCACCCGGCGAGGAGGGACC	0.537000													12	38					0	0	0.001855	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885042	88885042	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:88885042C>T	ENST00000319675.3	-	1	1254	c.1158G>A	c.(1156-1158)cgG>cgA	p.R386R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	386										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAAGGTCCTCCCGGACAGCCA	0.547000													7	45					0	0	0.003080	0	0
DNAH7	56171	broad.mit.edu	37	2	196661448	196661448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196661448G>A	ENST00000312428.6	-	56	10467	c.10367C>T	c.(10366-10368)tCa>tTa	p.S3456L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3456	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTAAGTTTTGATCCCCCATA	0.338000													9	32					0	0	0.000443	0	0
DNAH2	146754	broad.mit.edu	37	17	7689617	7689617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7689617C>T	ENST00000572933.1	+	40	7765	c.6305C>T	c.(6304-6306)tCc>tTc	p.S2102F	DNAH2_ENST00000389173.2_Missense_Mutation_p.S2102F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2102	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCTCCCTGTCCTCTCTGTGC	0.562000													33	9					0	0	0.003271	0	0
EPS8L1	54869	broad.mit.edu	37	19	55591171	55591171	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55591171G>A	ENST00000201647.6	+	5	287	c.231G>A	c.(229-231)ctG>ctA	p.L77L	EPS8L1_ENST00000540810.1_Silent_p.L13L|EPS8L1_ENST00000586329.1_Silent_p.L59L|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	77						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGGAGATGCTGCTGCGAGTGT	0.662000													12	15					0	0	0.001368	0	0
DNAJC21	134218	broad.mit.edu	37	5	34937696	34937696	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:34937696C>T	ENST00000382021.2	+	5	931	c.704C>T	c.(703-705)gCc>gTc	p.A235V	DNAJC21_ENST00000342382.4_Missense_Mutation_p.A235V|DNAJC21_ENST00000303525.7_Missense_Mutation_p.A235V	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	235	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GCGAGGAAAGCCGAAGAGATG	0.542000													33	52					0	0	0.003271	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161575	90161575	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:90161575G>A	ENST00000564451.1	+	0	928				TUBB8P7_ENST00000567960.1_RNA																							TGGGCCAAGGGACGCTACACC	0.582000													4	6					0	0	0.000602	0	0
PCDH15	65217	broad.mit.edu	37	10	55582262	55582262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55582262G>A	ENST00000361849.3	-	34	5624	c.5230C>T	c.(5230-5232)Cct>Tct	p.P1744S	PCDH15_ENST00000395430.1_Missense_Mutation_p.P1739S|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1702S|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1719S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1673S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1742S|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395440.1_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	1742					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)				CAGGCAGAAGGAGAGATGTTT	0.458000										HNSCC(58;0.16)			7	9					0	0	0.001984	0	0
CAPN6	827	broad.mit.edu	37	X	110491989	110491989	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:110491989T>C	ENST00000324068.1	-	10	1459	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	CAPN6_ENST00000541758.1_Missense_Mutation_p.N176S	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	431	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GAATTTGCGGTTCATCTCCAC	0.448000													20	6					0	0	0.002299	0	0
SLC5A8	160728	broad.mit.edu	37	12	101588903	101588903	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:101588903C>T	ENST00000536262.2	-	4	1065	c.507G>A	c.(505-507)acG>acA	p.T169T		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	169					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGACCACCCCCGTTGCCACTA	0.403000													10	19					0	0	0.000673	0	0
ABCA6	23460	broad.mit.edu	37	17	67129814	67129814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:67129814C>T	ENST00000284425.2	-	6	933	c.759G>A	c.(757-759)atG>atA	p.M253I		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	253					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCATCATTTTCATCAAATTCT	0.303000													24	10					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179581943	179581943	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179581943C>T	ENST00000589042.1	-	88	25742	c.25518G>A	c.(25516-25518)ttG>ttA	p.L8506L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.L8189L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.L7262L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8189	Ig-like 67.						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)			TATTTTCTACCAAAGTCATCT	0.458000													19	25					0	0	0.001216	0	0
OR52B2	255725	broad.mit.edu	37	11	6190685	6190685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:6190685G>A	ENST00000530810.1	-	1	953	c.872C>T	c.(871-873)cCc>cTc	p.P291L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAGACAATGGGGTTCAGCAT	0.473000													29	29					0	0	0.005443	0	0
NUAK1	9891	broad.mit.edu	37	12	106461376	106461376	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:106461376G>C	ENST00000261402.2	-	7	2569	c.1190C>G	c.(1189-1191)cCc>cGc	p.P397R		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	397							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCCCCTTGGGCCTCTTAGA	0.517000													34	50					0	0	0.003755	0	0
C8B	732	broad.mit.edu	37	1	57422537	57422537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:57422537G>A	ENST00000543257.1	-	4	706	c.140C>T	c.(139-141)cCg>cTg	p.P47L	C8B_ENST00000371237.4_Missense_Mutation_p.P99L|C8B_ENST00000535057.1_Missense_Mutation_p.P37L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	99					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GAAGTTGCACGGTTCCCCATG	0.512000													50	54					0	0	0.003610	0	0
FUK	197258	broad.mit.edu	37	16	70506488	70506488	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70506488C>T	ENST00000288078.6	+	14	1618	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	FUK_ENST00000378912.2_Silent_p.F494F|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	462						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGAGTGAATTCTTCAAGAGGA	0.607000													5	9					0	0	0.001168	0	0
HAP1	9001	broad.mit.edu	37	17	39883651	39883651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39883651C>T	ENST00000310778.5	-	9	1339	c.1330G>A	c.(1330-1332)Ggg>Agg	p.G444R	HAP1_ENST00000341193.5_Intron|HAP1_ENST00000393939.2_Intron|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	444	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGCATGCCCCCACAATCCATG	0.617000													39	7					0	0	0.001287	0	0
COL15A1	1306	broad.mit.edu	37	9	101797356	101797356	+	Missense_Mutation	SNP	C	C	T	rs142089094	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:101797356C>T	ENST00000375001.3	+	18	2563	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	714	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.P714S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGCTGGCCCTCCTGGGGTCAT	0.612000													41	5					0	0	0.001287	0	0
CPXM2	119587	broad.mit.edu	37	10	125528156	125528156	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:125528156G>A	ENST00000241305.3	-	9	1339	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	395					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCTGACACACGAACTGCACCA	0.627000													30	34					0	0	0.002096	0	0
ANKLE1	126549	broad.mit.edu	37	19	17397298	17397298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17397298C>T	ENST00000598347.1	+	8	1570	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	ANKLE1_ENST00000594072.1_Silent_p.L558L|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000404085.1_Silent_p.L591L|ANKLE1_ENST00000394458.3_Silent_p.L595L	NM_001278444.1	NP_001265373.1	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	557						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						ACCGTGCCCTCCTTGTCTTCC	0.657000													6	11					0	0	0.001168	0	0
ABCB1	5243	broad.mit.edu	37	7	87183213	87183213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:87183213C>T	ENST00000265724.3	-	10	1280	c.863G>A	c.(862-864)gGg>gAg	p.G288E	ABCB1_ENST00000543898.1_Missense_Mutation_p.G224E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	288	ABC transmembrane type-1 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)	TTTCTTTATCCCAATTCTTTT	0.358000													25	92					0	0	0.004656	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390414	38390414	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:38390414G>A	ENST00000329553.2	+	4	690	c.480G>A	c.(478-480)ggG>ggA	p.G160G	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		TCAACCAAGGGCAGCGATCCT	0.627000													9	23					0	0	0.000673	0	0
OR51S1	119692	broad.mit.edu	37	11	4869890	4869890	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4869890G>A	ENST00000322101.2	-	1	624	c.549C>T	c.(547-549)acC>acT	p.T183T	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATAAGAATGGGTTAGGACCT	0.547000													32	58					0	0	0.001512	0	0
HNF1A	6927	broad.mit.edu	37	12	121431496	121431496	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121431496G>A	ENST00000257555.6	+	3	926	c.700G>A	c.(700-702)Gag>Aag	p.E234K	HNF1A_ENST00000400024.2_Missense_Mutation_p.E234K|HNF1A_ENST00000543427.1_Missense_Mutation_p.E117K|HNF1A_ENST00000541395.1_Missense_Mutation_p.E234K|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.E234K|HNF1A_ENST00000402929.1_Missense_Mutation_p.E234K			P20823	HNF1A_HUMAN	HNF1 homeobox A	234					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GACGCTAGTGGAGGAGTGCAA	0.582000									Hepatic Adenoma, Familial Clustering of				53	74					0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117710795	117710795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117710795G>A	ENST00000368508.3	-	12	1675	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.R502C	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	493					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGGGGATGCGAGGTAGGATG	0.423000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								25	40					0	0	0.004656	0	0
HOMER1	9456	broad.mit.edu	37	5	78692726	78692726	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:78692726C>T	ENST00000334082.6	-	8	2238	c.795_splice	c.e8-1	p.E266_splice	HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000282260.6_Splice_Site_p.E136_splice|HOMER1_ENST00000535690.1_Splice_Site_p.E92_splice	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	266					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTTTCTATTTCCTAGAAAAGA	0.338000													9	1					0	0	0.004482	0	0
PDE1A	5136	broad.mit.edu	37	2	183066172	183066172	+	Silent	SNP	G	G	A	rs149666537		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:183066172G>A	ENST00000435564.1	-	10	1367	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	PDE1A_ENST00000536095.1_Silent_p.F285F|PDE1A_ENST00000410103.1_Silent_p.F389F|PDE1A_ENST00000346717.4_Silent_p.F355F|PDE1A_ENST00000456212.1_Silent_p.F389F|PDE1A_ENST00000351439.5_Silent_p.F373F|PDE1A_ENST00000331935.6_Silent_p.F389F|PDE1A_ENST00000358139.2_Silent_p.F389F|PDE1A_ENST00000409365.1_Silent_p.F373F	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	389	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.F389F(1)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			GCACCTGCAGGAAAAACTCCT	0.483000													32	57					0	0	0.003271	0	0
PTPRB	5787	broad.mit.edu	37	12	70938397	70938397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:70938397C>T	ENST00000334414.6	-	22	5478	c.5434G>A	c.(5434-5436)Gaa>Aaa	p.E1812K	PTPRB_ENST00000261266.5_Missense_Mutation_p.E1594K|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1504K|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1724K|PTPRB_ENST00000550857.1_Missense_Mutation_p.E1504K|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1504K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1594	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTTGTGAATTCCTTCAGGTCC	0.363000													19	24					0	0	0.002299	0	0
CSTF2	1478	broad.mit.edu	37	X	100078283	100078283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:100078283C>T	ENST00000415585.2	+	4	332	c.310C>T	c.(310-312)Ctt>Ttt	p.L104F	CSTF2_ENST00000486615.1_Intron|CSTF2_ENST00000372972.2_Missense_Mutation_p.L104F			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	104					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TTGATTAGGCCTTGGCACTGG	0.463000													30	4					0	0	0.003271	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188073	140188073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140188073C>T	ENST00000530339.1	+	1	1301	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S434L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S434L	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGCCTTCGCTGTGGGCC	0.612000													42	11					0	0	0.002522	0	0
SEC24D	9871	broad.mit.edu	37	4	119665201	119665201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:119665201G>A	ENST00000379735.5	-	15	2211	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	SEC24D_ENST00000429811.2_Missense_Mutation_p.S202L|SEC24D_ENST00000511481.1_Missense_Mutation_p.S277L|SEC24D_ENST00000419654.2_Missense_Mutation_p.S202L|SEC24D_ENST00000280551.6_Missense_Mutation_p.S646L|SEC24D_ENST00000505134.1_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	646					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CAGCCCCAGCGAGGCCACGTC	0.502000													17	21					0	0	0.001216	0	0
ZNF208	7757	broad.mit.edu	37	19	22157451	22157451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:22157451C>T	ENST00000397126.4	-	4	533	c.385G>A	c.(385-387)Ggt>Agt	p.G129S	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)				TTATTATAACCTTCTTTGTGC	0.323000													61	92					0	0	0.003610	0	0
CHD5	26038	broad.mit.edu	37	1	6184111	6184111	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:6184111C>T	ENST00000262450.3	-	31	4695	c.4596G>A	c.(4594-4596)gaG>gaA	p.E1532E	CHD5_ENST00000378021.1_Silent_p.E389E	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1532					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTCGGGCCCCTCAGGGATCA	0.657000													17	13					0	0	0.006122	0	0
BEND4	389206	broad.mit.edu	37	4	42119748	42119748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:42119748G>A	ENST00000504360.1	-	6	1900	c.1309C>T	c.(1309-1311)Cat>Tat	p.H437Y	BEND4_ENST00000502486.1_Silent_p.F464F	NM_001159547.1	NP_001153019.1	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	0	BEN.									NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GCATCCTAATGAATTCTGCAG	0.468000													10	6					0	0	0.000673	0	0
CLDN19	149461	broad.mit.edu	37	1	43201639	43201639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43201639C>T	ENST00000539749.1	-	3	641	c.451G>A	c.(451-453)Gct>Act	p.A151T	CLDN19_ENST00000296387.1_Missense_Mutation_p.G179D|CLDN19_ENST00000372539.3_Missense_Mutation_p.G179D	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	150					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGGAAGGAGCCGCCCAGCAC	0.652000													7	1					0	0	0.003080	0	0
LSP1	4046	broad.mit.edu	37	11	1908760	1908760	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:1908760G>A	ENST00000406638.2	+	10	2103	c.801G>A	c.(799-801)gaG>gaA	p.E267E	LSP1_ENST00000405957.2_Silent_p.E267E|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Silent_p.E457E|LSP1_ENST00000311604.3_Silent_p.E329E	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	329					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGAAGTATGAGAAGGTGCTTG	0.577000													16	28					0	0	0.001523	0	0
COL22A1	169044	broad.mit.edu	37	8	139838970	139838970	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139838970C>T	ENST00000303045.6	-	6	1346	c.900G>A	c.(898-900)cgG>cgA	p.R300R	COL22A1_ENST00000435777.1_Silent_p.R300R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	300	TSP N-terminal.				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)			TTTTCCTGAACCGGAAGGTTG	0.512000										HNSCC(7;0.00092)			14	52					0	0	0.002450	0	0
C1orf127	148345	broad.mit.edu	37	1	11008779	11008779	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:11008779C>T	ENST00000377004.4	-	12	1412	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G	C1orf127_ENST00000377008.4_Silent_p.G304G	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	322										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GTCCAGGGATCCCTGCTTCCC	0.652000													22	53					0	0	0.002780	0	0
PLCE1	51196	broad.mit.edu	37	10	96058371	96058371	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96058371C>T	ENST00000260766.3	+	24	6037	c.5403C>T	c.(5401-5403)ccC>ccT	p.P1801P	PLCE1_ENST00000371385.3_Silent_p.P1493P|PLCE1_ENST00000371375.1_Silent_p.P1493P|PLCE1_ENST00000371380.2_Silent_p.P1801P	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1801	PI-PLC Y-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCCGAACCCCCTCATGTTCT	0.547000													30	60					0	0	0.002096	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088253	17088253	+	Silent	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:17088253G>C	ENST00000443236.1	-	15	1855	c.1824C>G	c.(1822-1824)gtC>gtG	p.V608V	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	561						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGACGTAGAAGACCAGCAGGC	0.597000													26	37					0	0	0.001271	0	0
CCDC141	285025	broad.mit.edu	37	2	179730620	179730620	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179730620C>T	ENST00000420890.2	-	17	2715	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K	CCDC141_ENST00000295723.5_Silent_p.K291K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	291	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGTAGGTTCTTTGCAGAAA	0.478000													74	89					0	0	0.003610	0	0
ANK2	287	broad.mit.edu	37	4	114208808	114208808	+	Silent	SNP	T	T	C	rs113454484	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:114208808T>C	ENST00000357077.4	+	19	2180	c.2127T>C	c.(2125-2127)aaT>aaC	p.N709N	ANK2_ENST00000264366.6_Silent_p.N709N|ANK2_ENST00000506722.1_Silent_p.N688N|ANK2_ENST00000394537.3_Silent_p.N709N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	709					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATAAAGTGAATGTTGCTGATA	0.423000													12	18					0	0	0.003163	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458860	45458860	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:45458860C>T	ENST00000548424.1	+	0	448																											TCCAGCTTTTCGCAGTTAGCC	0.458000													3	4					0	0	0.004672	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353842	77353842	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:77353842G>A	ENST00000282849.5	-	16	2854	c.2436C>T	c.(2434-2436)ttC>ttT	p.F812F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	812	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAGCGAAGGGGAACTCCCCAG	0.572000													13	26					0	0	0.001368	0	0
MUTYH	4595	broad.mit.edu	37	1	45798462	45798462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:45798462G>A	ENST00000529984.1	-	3	394	c.160C>T	c.(160-162)Ccg>Tcg	p.P54S	MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000456914.2_Silent_p.G155G|MUTYH_ENST00000372110.3_Silent_p.G170G|MUTYH_ENST00000372100.5_Silent_p.G166G|MUTYH_ENST00000448481.1_Silent_p.G166G|MUTYH_ENST00000372104.1_Silent_p.G155G|MUTYH_ENST00000528332.2_Missense_Mutation_p.P68S|MUTYH_ENST00000372098.3_Silent_p.G180G|MUTYH_ENST00000354383.6_Silent_p.G156G|MUTYH_ENST00000450313.1_Silent_p.G183G|MUTYH_ENST00000372115.3_Silent_p.G169G|MUTYH_ENST00000355498.2_Silent_p.G155G|MUTYH_ENST00000488731.2_Missense_Mutation_p.P54S			Q9UIF7	MUTYH_HUMAN	mutY homolog	384					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCAGCCGCCGGCCACGAGAAT	0.552000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				30	62					0	0	0.001786	0	0
NAA11	84779	broad.mit.edu	37	4	80246801	80246801	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:80246801C>T	ENST00000286794.4	-	1	403	c.231G>A	c.(229-231)gtG>gtA	p.V77V		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	77	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GTGAACGCTTCACGGCCAGTG	0.572000													32	58					0	0	0.002096	0	0
GYPA	2993	broad.mit.edu	37	4	145038046	145038046	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:145038046C>T	ENST00000360771.4	-	5	433	c.318G>A	c.(316-318)acG>acA	p.T106T	GYPA_ENST00000503627.1_Silent_p.T61T|GYPA_ENST00000512064.1_Silent_p.T93T|GYPA_ENST00000512789.1_Silent_p.T41T|GYPA_ENST00000535709.1_Silent_p.T80T|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000504786.1_Silent_p.T74T|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000324022.10_Silent_p.T73T	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	106					interspecies interaction between organisms	membrane fraction	receptor activity	p.T106T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TTAAGAGGATCGTTCCAATAA	0.358000													60	106					0	0	0.003610	0	0
RLIM	51132	broad.mit.edu	37	X	73811373	73811373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73811373G>A	ENST00000332687.6	-	4	1995	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	RLIM_ENST00000349225.2_Missense_Mutation_p.H593Y	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	593					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGTGGACATGGTACTCATGG	0.393000													24	5					0	0	0.003330	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074373	106074373	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106074373G>A	ENST00000278071.2	-	3	1889	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	ITPRIP_ENST00000358187.2_Silent_p.I479I|ITPRIP_ENST00000337478.1_Silent_p.I479I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	479						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGCGGTTGCCGATGAAGAAGT	0.637000													27	42					0	0	0.005443	0	0
SUCO	51430	broad.mit.edu	37	1	172525121	172525121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:172525121C>T	ENST00000367723.3	+	4	1002	c.878C>T	c.(877-879)tCc>tTc	p.S293F	SUCO_ENST00000263688.3_Missense_Mutation_p.S134F	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		GAAAATATTTCCAGCTCATCT	0.373000													28	21					0	0	0.001512	0	0
GLI1	2735	broad.mit.edu	37	12	57859013	57859013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57859013C>T	ENST00000228682.2	+	5	600	c.509C>T	c.(508-510)tCc>tTc	p.S170F	GLI1_ENST00000546141.1_Missense_Mutation_p.S129F|GLI1_ENST00000543426.1_Missense_Mutation_p.S42F	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	170					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CATCCTCAGTCCCGGGGACCC	0.587000													9	10					0	0	0.004482	0	0
MARK2	2011	broad.mit.edu	37	11	63671580	63671580	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:63671580T>G	ENST00000402010.2	+	15	2216	c.1637T>G	c.(1636-1638)cTg>cGg	p.L546R	MARK2_ENST00000509502.2_Missense_Mutation_p.L512R|MARK2_ENST00000425897.2_Missense_Mutation_p.L466R|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000513765.2_Missense_Mutation_p.L513R|MARK2_ENST00000502399.3_Missense_Mutation_p.L545R|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000377809.4_Missense_Mutation_p.L546R|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000315032.8_Missense_Mutation_p.L546R|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000350490.7_Intron	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	546					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCTCTGGGCTGCCCCCCACG	0.697000													5	5					0	0	0.000602	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677158	48677158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48677158C>T	ENST00000352832.5	+	16	3931	c.3559C>T	c.(3559-3561)Cgg>Tgg	p.R1187W	CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1187W|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1210W|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1187W|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1187W|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1210W|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1187W|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1210W|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1187W|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1210W|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1187W|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1210W|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1210W|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1187W|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1210W	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1210					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGCCTGGCCCGGGCCCTGCG	0.677000													9	13					0	0	0.001855	0	0
ALS2	57679	broad.mit.edu	37	2	202589077	202589077	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:202589077G>A	ENST00000264276.6	-	21	3825	c.3453C>T	c.(3451-3453)ttC>ttT	p.F1151F	ALS2_ENST00000457679.2_Silent_p.F463F	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1151					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACTGGCCAATGAACATACTAG	0.413000													25	40					0	0	0.002780	0	0
HRNR	388697	broad.mit.edu	37	1	152188315	152188315	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152188315G>A	ENST00000368801.2	-	3	5865	c.5790C>T	c.(5788-5790)tcC>tcT	p.S1930S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1930					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACTGACGGGAGCCAGACC	0.577000													50	704					0	0	0.003214	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434112	22434112	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22434112C>T	ENST00000390442.3	+	0	221																											TTCAATACTTCATGTGGTACA	0.463000													54	69					0	0	0.003610	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3140504	3140504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3140504C>T	ENST00000252463.2	-	5	853	c.766G>A	c.(766-768)Ggc>Agc	p.G256S	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.G174S|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	256					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCCGCAGCGCCCCGTCCGAGC	0.647000													26	32					0	0	0.005443	0	0
MLLT1	4298	broad.mit.edu	37	19	6270642	6270642	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6270642G>A	ENST00000252674.7	-	2	304	c.141C>T	c.(139-141)ttC>ttT	p.F47F		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	47	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCTTCTCCACGAAGTGCTGGA	0.627000			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	14					0	0	0.001368	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513347	89513347	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:89513347G>A	ENST00000498435.1	-	0	66																											AGAGCAGCAGGAGTCCCAGGA	0.493000													21	43					0	0	0.001512	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832808	24832808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:24832808G>A	ENST00000376451.2	+	14	3918	c.3658G>A	c.(3658-3660)Gaa>Aaa	p.E1220K	KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E1537K|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1537					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGAGGACAGGAAATGAACAG	0.527000													18	22					0	0	0.000958	0	0
FBN3	84467	broad.mit.edu	37	19	8212199	8212199	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:8212199C>T	ENST00000600128.1	-	2	580	c.167_splice	c.e2+1	p.G56_splice	FBN3_ENST00000601739.1_Splice_Site_p.G56_splice|FBN3_ENST00000270509.2_Splice_Site_p.G56_splice			Q75N90	FBN3_HUMAN	fibrillin 3	56						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						ACCACGCACCCCTGCAAGATG	0.692000													5	8					0	0	0.001168	0	0
TMEM217	221468	broad.mit.edu	37	6	37186744	37186744	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:37186744G>A	ENST00000336655.2	-	2	102	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Silent_p.F21F	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	21						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						CCATGATGGTGAAGACCCCTG	0.498000													33	72					0	0	0.002445	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20240717	20240717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:20240717G>A	ENST00000175091.4	-	2	674	c.167C>T	c.(166-168)tCc>tTc	p.S56F		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	56					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTGGCATGGAGTTTGGATG	0.373000													35	45					0	0	0.001485	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764408	92764408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92764408G>A	ENST00000318238.4	-	5	2093	c.877C>T	c.(877-879)Ctt>Ttt	p.L293F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L293F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L293F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	293										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCTGCAGAAGGACTTCCACA	0.353000													59	148					0	0	0.003610	0	0
ACSM4	341392	broad.mit.edu	37	12	7473360	7473360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7473360C>T	ENST00000399422.4	+	6	1009	c.961C>T	c.(961-963)Ccc>Tcc	p.P321S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	321					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GTGCAGTCCTCCCACTGTGTA	0.468000													11	28					0	0	0.000978	0	0
SLFN11	91607	broad.mit.edu	37	17	33679994	33679994	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:33679994C>T	ENST00000394566.1	-	7	2359	c.2087G>A	c.(2086-2088)gGa>gAa	p.G696E	SLFN11_ENST00000308377.4_Missense_Mutation_p.G696E	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	696						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGAGAATTCCTGGGCCACC	0.498000													87	13					0	0	0.003610	0	0
HTR2A	3356	broad.mit.edu	37	13	47409676	47409676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:47409676C>T	ENST00000378688.4	-	3	843	c.712G>A	c.(712-714)Ggc>Agc	p.G238S	HTR2A_ENST00000543956.1_Missense_Mutation_p.G154S|HTR2A_ENST00000542664.1_Missense_Mutation_p.G238S			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	238					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACAAAAGAGCCGATCAGGACA	0.428000													28	28					0	0	0.002445	0	0
PRB3	5544	broad.mit.edu	37	12	11420362	11420362	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:11420362C>T	ENST00000381842.3	-	0	732				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding	p.G232E(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTGTTGCCTCCTTGTGAAGG	0.587000													66	112					0	0	0.003610	0	0
ZNF597	146434	broad.mit.edu	37	16	3486449	3486449	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3486449C>T	ENST00000301744.4	-	4	1485	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						TATGTGAGTTCGCTTATGAGT	0.383000													18	22					0	0	0.001216	0	0
ZNF835	90485	broad.mit.edu	37	19	57176328	57176328	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:57176328G>A	ENST00000537055.2	-	2	470	c.239C>T	c.(238-240)tCc>tTc	p.S80F		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCACCTCCGGGAACTGCTGTC	0.642000													9	17					0	0	0.000978	0	0
PSG7	5676	broad.mit.edu	37	19	43441252	43441252	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43441252C>T	ENST00000446844.3	-	0	66				PSG7_ENST00000406070.2_RNA|PSG7_ENST00000471557.1_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TGCGTGTTCTCCTCTGTGGAG	0.597000													17	31					0	0	0.006122	0	0
SEC31B	25956	broad.mit.edu	37	10	102249868	102249868	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:102249868G>A	ENST00000370345.3	-	21	2959	c.2862C>T	c.(2860-2862)acC>acT	p.T954T		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	954	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GAGGGGCTGGGGTGTGGGAGA	0.617000													29	44					0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179468711	179468711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179468711G>A	ENST00000589042.1	-	282	54927	c.54703C>T	c.(54703-54705)Cgt>Tgt	p.R18235C	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9170C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16594C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9295C|TTN_ENST00000342992.6_Missense_Mutation_p.R15667C|TTN_ENST00000342175.6_Missense_Mutation_p.R9362C|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16594							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)			TCAAGCAAACGAGGAACATTA	0.473000													99	135					0	0	0.003610	0	0
NSRP1	84081	broad.mit.edu	37	17	28512481	28512481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:28512481C>T	ENST00000247026.5	+	7	1529	c.1466C>T	c.(1465-1467)cCc>cTc	p.P489L	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	489					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CAAGAGAAACCCTCTAATTCT	0.433000													54	10					0	0	0.003610	0	0
FAM83B	222584	broad.mit.edu	37	6	54735196	54735196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:54735196G>A	ENST00000306858.7	+	2	268	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	51										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTCCAGGAACGAGTTTCAGAC	0.383000													20	46					0	0	0.001216	0	0
RP1L1	94137	broad.mit.edu	37	8	10467557	10467557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:10467557C>T	ENST00000382483.3	-	4	4274	c.4051G>A	c.(4051-4053)Gaa>Aaa	p.E1351K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1351					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)		gcctcttcttcttgctgtcct	0.488000													45	4					0	0	0.001951	0	0
CNTN5	53942	broad.mit.edu	37	11	99690344	99690344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:99690344C>T	ENST00000524871.1	+	4	415	c.125C>T	c.(124-126)tCt>tTt	p.S42F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S42F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S42F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S42F|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	42					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.S42C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGAGTTCATCTTCATCTCTC	0.403000													19	94					0	0	0.001216	0	0
HHIP	64399	broad.mit.edu	37	4	145573889	145573889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:145573889C>T	ENST00000296575.3	+	2	1067	c.412C>T	c.(412-414)Cct>Tct	p.P138S	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.P138S|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	138						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CCTAGTACTTCCTCTGCTCTG	0.408000													50	72					0	0	0.003610	0	0
OR2M5	127059	broad.mit.edu	37	1	248309187	248309187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248309187G>A	ENST00000366476.1	+	1	738	c.738G>A	c.(736-738)atG>atA	p.M246I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTCACCTCATGGTGGTGGGAA	0.493000													54	135					0	0	0.003610	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998244	108998244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108998244G>A	ENST00000272452.2	+	2	522	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	SULT1C4_ENST00000409309.3_Missense_Mutation_p.E66K	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	66					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGAGATAGTGGAATTAATACA	0.373000													20	21					0	0	0.001216	0	0
PASD1	139135	broad.mit.edu	37	X	150832763	150832763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:150832763G>A	ENST00000370357.4	+	11	1259	c.1014G>A	c.(1012-1014)atG>atA	p.M338I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	338						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTGATGGATCCAGTGG	0.597000													17	5					0	0	0.000958	0	0
NUP98	4928	broad.mit.edu	37	11	3735138	3735138	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:3735138G>A	ENST00000324932.7	-	19	2907	c.2487C>T	c.(2485-2487)atC>atT	p.I829I	NUP98_ENST00000355260.3_Silent_p.I829I|NUP98_ENST00000359171.4_Silent_p.I829I|NUP98_ENST00000397004.4_Silent_p.I829I|NUP98_ENST00000397007.4_Silent_p.I846I	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	846	Peptidase S59.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTTCATAGTTGATATCAGCAA	0.403000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								25	29					0	0	0.003954	0	0
CD5L	922	broad.mit.edu	37	1	157804520	157804520	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157804520G>A	ENST00000368174.4	-	4	491	c.395C>T	c.(394-396)tCc>tTc	p.S132F		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	132					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGGACTGGGGAGAAAGAGCT	0.567000													18	52					0	0	0.000958	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111965972	111965972	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:111965972C>T	ENST00000374566.3	-	19	2434	c.1917G>A	c.(1915-1917)aaG>aaA	p.K639K		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	639						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTGGATTTCTTATTGATAT	0.373000													57	11					0	0	0.003610	0	0
FEZF1	389549	broad.mit.edu	37	7	121943281	121943281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:121943281C>T	ENST00000442488.2	-	2	953	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	FEZF1_ENST00000331178.4_Missense_Mutation_p.G292S|FEZF1_ENST00000427185.2_Missense_Mutation_p.G246S	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	296					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						TGCCTGAAACCTTTTCCGCAC	0.463000													88	56					0	0	0.003610	0	0
ATP7B	540	broad.mit.edu	37	13	52511477	52511477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:52511477C>T	ENST00000242839.4	-	19	4112	c.3956G>A	c.(3955-3957)cGa>cAa	p.R1319Q	ATP7B_ENST00000418097.2_Missense_Mutation_p.R1254Q|ATP7B_ENST00000400370.3_Missense_Mutation_p.R889Q|ATP7B_ENST00000400366.3_Missense_Mutation_p.R1208Q|ATP7B_ENST00000448424.2_Missense_Mutation_p.R1241Q|ATP7B_ENST00000344297.5_Missense_Mutation_p.R1112Q|ATP7B_ENST00000417240.2_Missense_Mutation_p.R530Q	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1319					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCGTATCCTTCGGACAGTCCT	0.542000									Wilson disease				37	26					0	0	0.005524	0	0
MYOM1	8736	broad.mit.edu	37	18	3134759	3134759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:3134759G>A	ENST00000400569.3	-	16	2606	c.2273C>T	c.(2272-2274)tCg>tTg	p.S758L	MYOM1_ENST00000356443.4_Missense_Mutation_p.S758L|MYOM1_ENST00000261606.7_Missense_Mutation_p.S758L			P52179	MYOM1_HUMAN	myomesin 1	758	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCCTCCCACGAAACTACCAC	0.517000													17	54					0	0	0.001216	0	0
FGFR2	2263	broad.mit.edu	37	10	123244952	123244952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123244952C>T	ENST00000358487.5	-	16	2424	c.2152G>A	c.(2152-2154)Gaa>Aaa	p.E718K	FGFR2_ENST00000369060.4_Missense_Mutation_p.E602K|FGFR2_ENST00000478859.1_Missense_Mutation_p.E490K|FGFR2_ENST00000457416.2_Missense_Mutation_p.E719K|FGFR2_ENST00000360144.3_Missense_Mutation_p.E630K|FGFR2_ENST00000356226.4_Missense_Mutation_p.E601K|FGFR2_ENST00000369056.1_Missense_Mutation_p.E719K|FGFR2_ENST00000346997.2_Missense_Mutation_p.E716K|FGFR2_ENST00000369061.4_Missense_Mutation_p.E606K|FGFR2_ENST00000369059.1_Missense_Mutation_p.E604K|FGFR2_ENST00000357555.5_Missense_Mutation_p.E629K|FGFR2_ENST00000351936.6_Missense_Mutation_p.E716K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	718	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTGTGTCCTTCCTTCAGCAGC	0.537000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				48	50					0	0	0.003610	0	0
RYR1	6261	broad.mit.edu	37	19	39063864	39063864	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39063864G>A	ENST00000355481.4	+	95	14162	c.14031G>A	c.(14029-14031)ctG>ctA	p.L4677L	RYR1_ENST00000359596.3_Silent_p.L4682L|RYR1_ENST00000360985.3_Silent_p.L4677L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4682					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGGAAGCTGGAGTTTGATG	0.617000													18	16					0	0	0.006122	0	0
ITGA6	3655	broad.mit.edu	37	2	173338914	173338914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:173338914C>T	ENST00000375221.2	+	7	1227	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	ITGA6_ENST00000343713.4_Missense_Mutation_p.P298S|ITGA6_ENST00000264107.7_Missense_Mutation_p.P303S|ITGA6_ENST00000409532.1_Missense_Mutation_p.P184S|ITGA6_ENST00000409080.1_Missense_Mutation_p.P303S|ITGA6_ENST00000264106.6_Missense_Mutation_p.P342S			P23229	ITA6_HUMAN	integrin, alpha 6	342					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACATCTCCTCCCTGAGCACAT	0.488000													27	38					0	0	0.001271	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261089	21261089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:21261089C>T	ENST00000311620.5	+	2	275	c.202C>T	c.(202-204)Cct>Tct	p.P68S		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	68										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GGGAAACACTCCTCTACATTT	0.473000													14	26					0	0	0.000958	0	0
TACR3	6870	broad.mit.edu	37	4	104640704	104640704	+	Silent	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:104640704T>C	ENST00000304883.2	-	1	269	c.129A>G	c.(127-129)caA>caG	p.Q43Q		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	43						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGTCCAGCAGTTGCAGCCACC	0.701000													21	17					0	0	0.003954	0	0
CTSS	1520	broad.mit.edu	37	1	150724269	150724269	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:150724269G>A	ENST00000368985.3	-	5	875	c.615C>T	c.(613-615)ccC>ccT	p.P205P	CTSS_ENST00000480760.1_5'UTR|CTSS_ENST00000448301.2_Silent_p.P155P	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	205					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTTTGTAGGGATAGGAAG	0.473000													38	80					0	0	0.005524	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185270	127185270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:127185270G>A	ENST00000371124.3	-	1	1112	c.916C>T	c.(916-918)Ctc>Ttc	p.L306F		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	306						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCAGGGAGGAGAGTGGTGCCC	0.502000													27	5					0	0	0.001786	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709258	128709258	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128709258G>A	ENST00000392665.2	-	2	1025	c.881C>T	c.(880-882)tCc>tTc	p.S294F	KCNJ1_ENST00000392664.2_Missense_Mutation_p.S313F|KCNJ1_ENST00000392666.1_Missense_Mutation_p.S294F|KCNJ1_ENST00000324036.3_Missense_Mutation_p.S294F|KCNJ1_ENST00000440599.2_Missense_Mutation_p.S294F	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	313					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TGGGACATAGGATGTCCGGAC	0.502000													19	23					0	0	0.002780	0	0
ZNF804A	91752	broad.mit.edu	37	2	185463733	185463733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:185463733G>A	ENST00000302277.6	+	1	641	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	16						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTCAGCAACGGACACTTTCGC	0.582000													18	31					0	0	0.002780	0	0
IFNA6	3443	broad.mit.edu	37	9	21350398	21350398	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:21350398G>A	ENST00000380210.1	-	1	979	c.489C>T	c.(487-489)gcC>gcT	p.A163A		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	163					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			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CAACCTCCCAGGCACAAGGGC	0.453000													81	41					0	0	0.003610	0	0
ATG9B	285973	broad.mit.edu	37	7	150715447	150715447	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150715447C>T	ENST00000605938.1	-	7	1881	c.1806G>A	c.(1804-1806)gaG>gaA	p.E602E	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Silent_p.E88E|ATG9B_ENST00000377974.2_Silent_p.E602E	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	602					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCGGGCTCCTCCGGGAGGT	0.701000											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	23					0	0	0.000673	0	0
VNN1	8876	broad.mit.edu	37	6	133014378	133014378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:133014378C>T	ENST00000367928.4	-	4	624	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	204	CN hydrolase.				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)		GCCAAAACTTCCAAAGGTGGT	0.398000													19	37					0	0	0.000958	0	0
NLRP1	22861	broad.mit.edu	37	17	5461949	5461949	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:5461949G>A	ENST00000345221.3	-	4	2621	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	NLRP1_ENST00000262467.5_Silent_p.I689I|NLRP1_ENST00000269280.4_Silent_p.I689I|NLRP1_ENST00000572272.1_Silent_p.I689I|NLRP1_ENST00000354411.3_Silent_p.I689I|NLRP1_ENST00000577119.1_Silent_p.I689I|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	689					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGCAGTGAAAGATGTTCTCCA	0.557000													53	11					0	0	0.003610	0	0
HECW2	57520	broad.mit.edu	37	2	197183873	197183873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:197183873C>T	ENST00000260983.2	-	9	1923	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	HECW2_ENST00000409111.1_Missense_Mutation_p.D225N	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	581					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTCCCTGTGTCTGCGCCACTT	0.592000													14	16					0	0	0.004990	0	0
CYBRD1	79901	broad.mit.edu	37	2	172411207	172411207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:172411207G>A	ENST00000321348.4	+	4	929	c.731G>A	c.(730-732)gGa>gAa	p.G244E	CYBRD1_ENST00000409484.1_Missense_Mutation_p.G186E|CYBRD1_ENST00000375252.3_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	244					cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						ACTGAACAGGGAGCAAGAGGT	0.463000													14	14					0	0	0.003163	0	0
TMEM174	134288	broad.mit.edu	37	5	72469265	72469265	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:72469265C>T	ENST00000296776.5	+	1	244	c.195C>T	c.(193-195)gtC>gtT	p.V65V	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	65						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		ACCAAGGTGTCTCCCACTTTG	0.537000													31	11					0	0	0.001512	0	0
MYT1L	23040	broad.mit.edu	37	2	1983324	1983324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1983324G>A	ENST00000399161.2	-	7	805	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	MYT1L_ENST00000428368.2_Missense_Mutation_p.P20S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	20					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTCCACGGGAACTGCAGAG	0.443000													21	23					0	0	0.001882	0	0
NPC1L1	29881	broad.mit.edu	37	7	44575517	44575517	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:44575517G>A	ENST00000289547.4	-	5	1960	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	NPC1L1_ENST00000381160.3_Silent_p.I635I|NPC1L1_ENST00000423141.1_Silent_p.I635I|NPC1L1_ENST00000546276.1_Silent_p.I635I	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	635	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TGGTGGCAAAGATGGGCAGGT	0.582000													20	37					0	0	0.001523	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740838	110740838	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:110740838C>T	ENST00000331565.4	+	12	2441	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	652					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		ACACCCTCTCCGTGTCCTACA	0.592000													9	7					0	0	0.000443	0	0
TSPAN2	10100	broad.mit.edu	37	1	115600211	115600211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:115600211C>T	ENST00000369516.2	-	6	494	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369514.2_Missense_Mutation_p.E155K|TSPAN2_ENST00000369515.2_Missense_Mutation_p.E130K	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	155						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCGGAGCTTTCTTTTCCACAG	0.502000													91	164					0	0	0.003610	0	0
FAM60A	58516	broad.mit.edu	37	12	31451024	31451024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:31451024G>A	ENST00000337682.4	-	2	483	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	FAM60A_ENST00000454658.2_Nonsense_Mutation_p.Q39*|FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000542983.1_Intron	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	39										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					AAACAGCTCTGGAAGTCCTTT	0.403000													41	56					0	0	0.003610	0	0
RASSF6	166824	broad.mit.edu	37	4	74477518	74477518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:74477518C>T	ENST00000342081.3	-	2	221	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	RASSF6_ENST00000307439.5_5'UTR|RASSF6_ENST00000512591.1_5'UTR|RASSF6_ENST00000395777.2_5'UTR|RASSF6_ENST00000335049.5_Intron	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	31					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GTCATCTTTTCCTCCTTTTTG	0.333000													29	63					0	0	0.002836	0	0
CFHR4	10877	broad.mit.edu	37	1	196857321	196857321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:196857321C>T	ENST00000367416.2	+	1	178	c.41C>T	c.(40-42)tCc>tTc	p.S14F	CFHR4_ENST00000251424.4_Missense_Mutation_p.S14F|CFHR4_ENST00000367418.1_Missense_Mutation_p.S14F|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TTGTGGGTTTCCTGTGCTAAT	0.343000													46	31					0	0	0.003610	0	0
DTNA	1837	broad.mit.edu	37	18	32391971	32391971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:32391971G>A	ENST00000283365.9	+	7	848	c.497G>A	c.(496-498)cGa>cAa	p.R166Q	DTNA_ENST00000399121.5_Missense_Mutation_p.R166Q|DTNA_ENST00000399113.3_Missense_Mutation_p.R166Q|DTNA_ENST00000554864.3_Missense_Mutation_p.R166Q|DTNA_ENST00000444659.1_Missense_Mutation_p.R166Q|DTNA_ENST00000348997.5_Missense_Mutation_p.R166Q|DTNA_ENST00000598142.1_Missense_Mutation_p.R166Q|DTNA_ENST00000269190.7_Missense_Mutation_p.R166Q|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598334.1_Missense_Mutation_p.R166Q|DTNA_ENST00000598774.1_Missense_Mutation_p.R166Q|DTNA_ENST00000597599.1_Missense_Mutation_p.R166Q|DTNA_ENST00000596745.1_Missense_Mutation_p.R166Q|DTNA_ENST00000315456.6_Missense_Mutation_p.R166Q|DTNA_ENST00000269191.6_Missense_Mutation_p.R166Q|DTNA_ENST00000595022.1_Missense_Mutation_p.R166Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	166	Interaction with MAGEE1 (By similarity).				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						GTTTATGGACGATATGACCAA	0.413000													20	36					0	0	0.001216	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688663	111688663	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:111688663G>C	ENST00000431670.2	+	16	3853	c.3442G>C	c.(3442-3444)Gga>Cga	p.G1148R	PHLDB2_ENST00000495180.1_Missense_Mutation_p.G639R|PHLDB2_ENST00000412622.1_Missense_Mutation_p.G1105R|PHLDB2_ENST00000393923.3_Missense_Mutation_p.G1132R|PHLDB2_ENST00000393925.3_Missense_Mutation_p.G1148R|PHLDB2_ENST00000481953.1_Missense_Mutation_p.G1105R	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1148	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACCTGCCGAGGATTCCTCAT	0.438000													40	61					0	0	0.001485	0	0
LMX1A	4009	broad.mit.edu	37	1	165175192	165175192	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:165175192G>A	ENST00000342310.3	-	8	1279	c.897C>T	c.(895-897)ctC>ctT	p.L299L	LMX1A_ENST00000367893.4_Silent_p.L299L|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Silent_p.L299L	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	299						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)					CGATGGCCAGGAGCTGCTGTG	0.582000													43	37					0	0	0.002852	0	0
PSG1	5669	broad.mit.edu	37	19	43376027	43376027	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43376027T>A	ENST00000244296.2	-	3	738	c.601A>T	c.(601-603)Acc>Tcc	p.T201S	PSG1_ENST00000436291.2_Missense_Mutation_p.T201S|PSG1_ENST00000595356.1_Missense_Mutation_p.T201S|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Missense_Mutation_p.T201S|PSG1_ENST00000595124.1_Intron	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGAAAGAGGGTCCTGTTGGTT	0.522000													98	139					0	0	0.003610	0	0
PSMC3	5702	broad.mit.edu	37	11	47445718	47445718	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:47445718G>A	ENST00000298852.3	-	6	627	c.470C>T	c.(469-471)tCc>tTc	p.S157F	PSMC3_ENST00000530912.1_Missense_Mutation_p.S115F|PSMC3_ENST00000602866.1_Missense_Mutation_p.S141F	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	157					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GATCAGATAGGAGTCTTTGTT	0.567000													31	54					0	0	0.003271	0	0
TTN	7273	broad.mit.edu	37	2	179452278	179452278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179452278C>T	ENST00000589042.1	-	306	63982	c.63758G>A	c.(63757-63759)gGa>gAa	p.G21253E	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G12188E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19612E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12313E|TTN_ENST00000342992.6_Missense_Mutation_p.G18685E|TTN_ENST00000342175.6_Missense_Mutation_p.G12380E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19612	Fibronectin type-III 54.						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)			AGCCTTTTCTCCTGCTGGGTT	0.423000													4	13					0	0	0.000248	0	0
CAMTA1	23261	broad.mit.edu	37	1	7723467	7723467	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:7723467C>T	ENST00000303635.7	+	9	1067	c.860C>T	c.(859-861)tCg>tTg	p.S287L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S287L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.S287L(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGCATCATCTCGCCCAAGGTG	0.637000			T	WWTR1	epitheliod hemangioendothelioma								48	67					0	0	0.003610	0	0
ABCB5	340273	broad.mit.edu	37	7	20725319	20725319	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:20725319G>A	ENST00000404938.2	+	16	2522	c.1869_splice	c.e16-1	p.D624_splice	ABCB5_ENST00000258738.6_Splice_Site_p.D179_splice	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	179	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCCTGTAAGGATATTAAAAA	0.343000													12	20					0	0	0.002450	0	0
ZNF99	7652	broad.mit.edu	37	19	22941105	22941105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:22941105G>A	ENST00000397104.3	-	5	1332	c.1333C>T	c.(1333-1335)Ccc>Tcc	p.P445S	ZNF99_ENST00000596209.1_Missense_Mutation_p.P536S					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTTGTAGGGTTTCTTTCCA	0.343000													19	33					0	0	0.001882	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331066	100331066	+	RNA	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:100331066G>T	ENST00000341853.1	-	0	3125					NR_003260.1																						TCCCAGAGGGGGCGGCCCCTC	0.512000													10	27					0.000673444	0.00125317	0.000673	1	0
FSHB	2488	broad.mit.edu	37	11	30255338	30255338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:30255338G>A	ENST00000417547.1	+	3	420	c.381G>A	c.(379-381)atG>atA	p.M127I	FSHB_ENST00000254122.3_Missense_Mutation_p.M127I|FSHB_ENST00000533718.1_Missense_Mutation_p.M127I	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	127					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	TTGGTGAAATGAAAGAATAAA	0.512000													14	23					0	0	0.004007	0	0
PTPRB	5787	broad.mit.edu	37	12	70960270	70960270	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:70960270G>A	ENST00000334414.6	-	15	3893	c.3849C>T	c.(3847-3849)atC>atT	p.I1283I	PTPRB_ENST00000551525.1_Silent_p.I1282I|PTPRB_ENST00000261266.5_Silent_p.I1065I|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000550358.1_Silent_p.I1195I|PTPRB_ENST00000550857.1_Silent_p.I975I|PTPRB_ENST00000451516.2_Silent_p.I975I	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1065	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGACAGTTAGGATCTGTATCT	0.443000													20	39					0	0	0.000958	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968599	99968599	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:99968599C>T	ENST00000298999.3	+	5	1031	c.728C>T	c.(727-729)tCt>tTt	p.S243F	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S243F|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		AGCTCTGATTCTGAAATTGTA	0.393000													20	32					0	0	0.001523	0	0
HECW1	23072	broad.mit.edu	37	7	43508659	43508659	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:43508659G>A	ENST00000395891.1	+	16	3659	c.3054G>A	c.(3052-3054)ctG>ctA	p.L1018L	HECW1_ENST00000453890.1_Silent_p.L984L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1018	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACACTCGGCTGGAACTGCCCC	0.552000													28	41					0	0	0.001271	0	0
PCDH15	65217	broad.mit.edu	37	10	56089365	56089365	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:56089365G>A	ENST00000373965.2	-	7	1090	c.696C>T	c.(694-696)atC>atT	p.I232I	PCDH15_ENST00000395430.1_Silent_p.I232I|PCDH15_ENST00000395445.1_Silent_p.I232I|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000395433.1_Silent_p.I210I|PCDH15_ENST00000361849.3_Silent_p.I232I|PCDH15_ENST00000395446.1_Silent_p.I232I|PCDH15_ENST00000373955.1_Silent_p.I232I|PCDH15_ENST00000395442.1_Silent_p.I232I|PCDH15_ENST00000414778.1_Silent_p.I237I|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_Silent_p.I232I|PCDH15_ENST00000373957.3_Silent_p.I210I|PCDH15_ENST00000320301.6_Silent_p.I232I|PCDH15_ENST00000395438.1_Silent_p.I232I|PCDH15_ENST00000395440.1_Silent_p.I232I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	232	Cadherin 2.				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)				CATTAGCTTGGATTATGACAA	0.338000										HNSCC(58;0.16)			55	67					0	0	0.003610	0	0
FRMD4B	23150	broad.mit.edu	37	3	69360444	69360444	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:69360444T>A	ENST00000542259.1	-	3	582	c.131A>T	c.(130-132)gAg>gTg	p.E44V	FRMD4B_ENST00000398540.3_Missense_Mutation_p.E98V			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	98						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCCAAAATACTCCTTTTCTTT	0.368000													16	19					0	0	0.004990	0	0
SRCIN1	80725	broad.mit.edu	37	17	36704930	36704930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:36704930C>T	ENST00000264659.7	-	17	3357	c.3133G>A	c.(3133-3135)Gag>Aag	p.E1045K	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1079K	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	917					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						ACCTCCAGCTCCTCGGACTCA	0.667000													10	1					0	0	0.000673	0	0
NLRP7	199713	broad.mit.edu	37	19	55451437	55451437	+	Silent	SNP	G	G	A	rs140816006		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55451437G>A	ENST00000588756.1	-	6	1236	c.750C>T	c.(748-750)ttC>ttT	p.F250F	NLRP7_ENST00000592784.1_Silent_p.F250F|NLRP7_ENST00000340844.2_Silent_p.F250F|NLRP7_ENST00000328092.5_Silent_p.F250F|NLRP7_ENST00000448121.2_Silent_p.F250F|NLRP7_ENST00000446217.1_Silent_p.F278F|NLRP7_ENST00000590030.1_Silent_p.F250F			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	250	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CATCGACCACGAACAGGATTC	0.577000													40	70					0	0	0.001706	0	0
GPR116	221395	broad.mit.edu	37	6	46846123	46846123	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46846123C>T	ENST00000283296.7	-	10	1344	c.1056G>A	c.(1054-1056)ctG>ctA	p.L352L	GPR116_ENST00000362015.4_Silent_p.L352L|GPR116_ENST00000265417.7_Silent_p.L352L|GPR116_ENST00000456426.2_Intron	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	352	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTCTAATATCAGTTTGCAAA	0.328000													11	17					0	0	0.000978	0	0
TMC7	79905	broad.mit.edu	37	16	19051670	19051670	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:19051670G>A	ENST00000421369.3	+	9	1467	c.909G>A	c.(907-909)gtG>gtA	p.V303V	TMC7_ENST00000569532.1_Silent_p.V413V|TMC7_ENST00000304381.5_Silent_p.V413V	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	413						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CGTCTATTGTGATCACGCTGG	0.413000													29	40					0	0	0.001786	0	0
GJA10	84694	broad.mit.edu	37	6	90605568	90605568	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:90605568C>T	ENST00000369352.1	+	1	1381	c.1381C>T	c.(1381-1383)Cct>Tct	p.P461S		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	461					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTGGATTTTCCTCACTGGGA	0.507000													30	51					0	0	0.001786	0	0
GABRB3	2562	broad.mit.edu	37	15	26793000	26793000	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:26793000G>A	ENST00000541819.2	-	10	1632	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	GABRB3_ENST00000311550.5_Silent_p.I454I|GABRB3_ENST00000545868.1_Silent_p.I369I|GABRB3_ENST00000400188.3_Silent_p.I383I|GABRB3_ENST00000299267.4_Silent_p.I454I			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	454					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)	ATGGAAACACGATCCTGGACC	0.398000													23	35					0	0	0.005443	0	0
C1orf173	127254	broad.mit.edu	37	1	75038102	75038102	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:75038102G>A	ENST00000326665.5	-	14	3510	c.3292C>T	c.(3292-3294)Ctt>Ttt	p.L1098F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1098	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						TCCGCTTTAAGTTTTTGCTCT	0.448000													67	90					0	0	0.003610	0	0
HPR	3250	broad.mit.edu	37	16	72107799	72107799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72107799G>A	ENST00000540303.2	+	2	46	c.14G>A	c.(13-15)gGa>gAa	p.G5E	HPR_ENST00000561690.1_Missense_Mutation_p.G5E|HPR_ENST00000228226.8_Missense_Mutation_p.G42E|HPR_ENST00000356967.5_Missense_Mutation_p.G5E	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	5					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				AGTGACCTGGGAGCTGTCATT	0.512000													42	56					0	0	0.003610	0	0
KCNA3	3738	broad.mit.edu	37	1	111215758	111215758	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:111215758C>T	ENST00000369769.2	-	1	1897	c.1674G>A	c.(1672-1674)acG>acA	p.T558T		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	558						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATTATTGTTCGTGGTGCAGG	0.458000													48	63					0	0	0.003610	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754414	31754414	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:31754414G>A	ENST00000405650.1	-	0	826				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	AGGAAACAAAGTGAGAAAAAT	0.453000													17	24					0	0	0.004990	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555104	44555104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:44555104C>T	ENST00000330682.2	-	1	1345	c.1110G>A	c.(1108-1110)tgG>tgA	p.W370*	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	370	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GATCGGGCGTCCACCCTTCCA	0.587000													30	551					0	0	0.001485	0	0
COL1A2	1278	broad.mit.edu	37	7	94035010	94035010	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:94035010C>T	ENST00000297268.6	+	11	983	c.512C>T	c.(511-513)cCt>cTt	p.P171L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	171					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGGAACTCCTGGACTTCCT	0.373000										HNSCC(75;0.22)			96	90					0	0	0.003610	0	0
HOPX	84525	broad.mit.edu	37	4	57522116	57522116	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:57522116C>T	ENST00000554144.1	-	3	639	c.105G>A	c.(103-105)ctG>ctA	p.L35L	HOPX_ENST00000503639.3_Silent_p.L17L|HOPX_ENST00000381260.3_Silent_p.L17L|HOPX_ENST00000508121.1_Silent_p.L35L|HOPX_ENST00000555760.2_Silent_p.L17L|HOPX_ENST00000556614.2_Silent_p.L17L|HOPX_ENST00000317745.7_Silent_p.L17L|HOPX_ENST00000381255.3_Silent_p.L17L|HOPX_ENST00000337881.7_Silent_p.L17L|HOPX_ENST00000420433.1_Silent_p.L35L|HOPX_ENST00000553379.2_Silent_p.L17L|HOPX_ENST00000556376.2_Silent_p.L17L	NM_001145460.1	NP_001138932.1	Q9BPY8	HOP_HUMAN	HOP homeobox	17					negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					AGTTGTACTCCAGGATTTCCA	0.677000													4	10					0	0	0.000602	0	0
SNHG14	104472715	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:25442574G>A	ENST00000424208.1	+	0	1550				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1																						CTGGCCCCGGGAAAATGTCCC	0.602000													4	5					0	0	0.000248	0	0
ZNF142	7701	broad.mit.edu	37	2	219521062	219521062	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219521062G>T	ENST00000411696.2	-	3	870	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	ZNF142_ENST00000449707.1_Missense_Mutation_p.L31I			P52746	ZN142_HUMAN	zinc finger protein 142	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CGGTTAGAGAGAGGCGGGGGG	0.622000													11	18					1.58986e-06	2.9672e-06	0.000673	1	0
ZNF451	26036	broad.mit.edu	37	6	56999599	56999599	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:56999599C>T	ENST00000370706.4	+	7	877	c.633C>T	c.(631-633)tcC>tcT	p.S211S	RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Silent_p.S211S|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Silent_p.S211S|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCTTCAGCTCCTTTGCTTGTG	0.328000													28	31					0	0	0.004656	0	0
RWDD3	25950	broad.mit.edu	37	1	95712208	95712208	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:95712208C>T	ENST00000370202.4	+	3	760	c.684C>T	c.(682-684)caC>caT	p.H228H	RWDD3_ENST00000495272.1_3'UTR|RWDD3_ENST00000263893.6_Intron|RP11-57H12.5_ENST00000444665.1_RNA	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300.2	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	228						cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGACAGAACACAAAAGGTATA	0.323000													26	46					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179606375	179606375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179606375G>A	ENST00000589042.1	-	48	11809	c.11585C>T	c.(11584-11586)cCt>cTt	p.P3862L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3499L|TTN_ENST00000591111.1_Missense_Mutation_p.P3545L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P3624L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.P3691L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3545							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)			GTCAGCAGAAGGGGTTAATAG	0.428000													40	51					0	0	0.003214	0	0
MED13	9969	broad.mit.edu	37	17	60061676	60061676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:60061676G>A	ENST00000397786.2	-	15	2820	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	915					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						TGCAAACATGGAACATCCCAC	0.373000													31	5					0	0	0.001786	0	0
TBX21	30009	broad.mit.edu	37	17	45822635	45822635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:45822635C>T	ENST00000177694.1	+	6	1722	c.1511C>T	c.(1510-1512)cCc>cTc	p.P504L		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	504					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CGCGTGTCCCCCTATCCTTCC	0.562000													39	6					0	0	0.005524	0	0
ADCY1	107	broad.mit.edu	37	7	45743343	45743343	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:45743343G>A	ENST00000297323.7	+	16	2738	c.2716G>A	c.(2716-2718)Gag>Aag	p.E906K		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	906					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CGACTTTGACGAGGTGAGGCT	0.562000													23	26					0	0	0.003330	0	0
CYP3A43	64816	broad.mit.edu	37	7	99457577	99457577	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99457577A>T	ENST00000354829.2	+	10	1093	c.990A>T	c.(988-990)aaA>aaT	p.K330N	CYP3A43_ENST00000222382.5_Missense_Mutation_p.K330N|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Missense_Mutation_p.K77N|CYP3A43_ENST00000342499.4_Missense_Mutation_p.K190N|CYP3A43_ENST00000415413.1_Missense_Mutation_p.K119N|CYP3A43_ENST00000312017.5_Missense_Mutation_p.K330N|CYP3A43_ENST00000417625.1_Missense_Mutation_p.K220N	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	330			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TCCAGCAGAAACTGCAGGAGG	0.493000													20	73					0	0	0.001523	0	0
MAST3	23031	broad.mit.edu	37	19	18254689	18254689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:18254689C>T	ENST00000262811.5	+	21	2369	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	790							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCAAGTTTGCCTTCTCATCA	0.627000													9	16					0	0	0.000443	0	0
CORIN	10699	broad.mit.edu	37	4	47647108	47647108	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:47647108C>T	ENST00000273857.4	-	14	1946	c.1947G>A	c.(1945-1947)gaG>gaA	p.E649E	CORIN_ENST00000505909.1_Silent_p.E612E|CORIN_ENST00000502252.1_Silent_p.E582E|CORIN_ENST00000508498.1_Silent_p.E510E|CORIN_ENST00000504584.1_Silent_p.E612E	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	649	LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGCAGTTTTTCTCGTCCATGT	0.378000													32	53					0	0	0.002096	0	0
GALNT15	117248	broad.mit.edu	37	3	16216934	16216934	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:16216934G>A	ENST00000339732.5	+	1	779	c.276G>A	c.(274-276)gaG>gaA	p.E92E	GALNT15_ENST00000470031.1_3'UTR|GALNT15_ENST00000437509.1_Silent_p.E92E	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		CACTGCGGGAGGATCAGCTGC	0.612000													9	15					0	0	0.000673	0	0
SCN1A	6323	broad.mit.edu	37	2	166900267	166900267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166900267G>A	ENST00000423058.2	-	11	1972	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S652F|SCN1A_ENST00000375405.3_Missense_Mutation_p.S652F|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S652F	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	652						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACCAACCAAGGAAACCACACC	0.493000													26	42					0	0	0.001786	0	0
CLEC16A	23274	broad.mit.edu	37	16	11063148	11063148	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:11063148C>T	ENST00000409790.1	+	4	704	c.474C>T	c.(472-474)gtC>gtT	p.V158V	CLEC16A_ENST00000409552.3_Silent_p.V158V	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	158										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACCACACTGTCCATTTCTTTT	0.373000													5	19					0	0	0.000602	0	0
ACSS3	79611	broad.mit.edu	37	12	81647092	81647092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81647092C>T	ENST00000548058.1	+	14	2636	c.1726C>T	c.(1726-1728)Ctt>Ttt	p.L576F	ACSS3_ENST00000548324.1_Missense_Mutation_p.L258F|ACSS3_ENST00000261206.3_Missense_Mutation_p.L575F			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	576						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACAGTCAATCCTTTCCCATGG	0.363000													93	128					0	0	0.003610	0	0
SCLT1	132320	broad.mit.edu	37	4	129864297	129864297	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:129864297G>A	ENST00000281142.5	-	17	1989	c.1486C>T	c.(1486-1488)Caa>Taa	p.Q496*	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	496						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AATACATTTTGAAGTTTCTGA	0.348000													20	29					0	0	0.001882	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37534639	37534639	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:37534639C>T	ENST00000299824.1	+	7	913	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	242					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAATGGATACCTGCGGGCAGC	0.592000													40	22					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152280545	152280545	+	Missense_Mutation	SNP	C	C	T	rs142969864		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152280545C>T	ENST00000368799.1	-	3	6852	c.6817G>A	c.(6817-6819)Gag>Aag	p.E2273K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2273	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGACTGCTCCTGAGCAGAT	0.562000									Ichthyosis				71	154					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13735964	13735964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13735964G>A	ENST00000265104.4	-	67	11637	c.11533C>T	c.(11533-11535)Cgc>Tgc	p.R3845C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3845					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)					AGAAACTGGCGAAGCGAAGTC	0.473000									Kartagener syndrome				39	54					0	0	0.001951	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923814	2923814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:2923814C>T	ENST00000254695.8	+	19	1766	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.P559L|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.P544L|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.P540L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	559					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCACGGAGTCCCATCAAGCGA	0.622000													6	3					0	0	0.001984	0	0
RNF175	285533	broad.mit.edu	37	4	154649452	154649452	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:154649452C>T	ENST00000347063.4	-	4	680	c.308G>A	c.(307-309)tGg>tAg	p.W103*	RNF175_ENST00000274068.4_Intron|RNF175_ENST00000506505.1_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	103						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				CAGAAACCGCCACCAGTATAA	0.453000													18	49					0	0	0.000958	0	0
PTCD2	79810	broad.mit.edu	37	5	71634538	71634538	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:71634538C>T	ENST00000380639.5	+	7	745	c.729C>T	c.(727-729)ttC>ttT	p.F243F	PTCD2_ENST00000536805.1_Silent_p.F71F|PTCD2_ENST00000503868.1_Silent_p.F134F|PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000460837.2_3'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	243										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CATCCTGTTTCGCTGTGGCAT	0.423000													15	6					0	0	0.004007	0	0
OR6C4	341418	broad.mit.edu	37	12	55945720	55945720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55945720C>T	ENST00000394256.2	+	1	738	c.710C>T	c.(709-711)tCc>tTc	p.S237F	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AAGGCCTTTTCCACTTGTTCC	0.438000													21	46					0	0	0.002780	0	0
ISLR2	57611	broad.mit.edu	37	15	74427116	74427116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:74427116G>A	ENST00000361742.3	+	4	2790	c.2021G>A	c.(2020-2022)gGg>gAg	p.G674E	ISLR2_ENST00000435464.1_Missense_Mutation_p.G674E|ISLR2_ENST00000419208.1_Missense_Mutation_p.G674E|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.G674E|ISLR2_ENST00000453268.2_Missense_Mutation_p.G674E|ISLR2_ENST00000445793.1_Missense_Mutation_p.G674E|ISLR2_ENST00000565540.1_Missense_Mutation_p.G674E	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	674					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GACGTGCAGGGGGAGGGCCTT	0.672000											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	26					0	0	0.001216	0	0
PDZRN4	29951	broad.mit.edu	37	12	41957445	41957445	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:41957445G>A	ENST00000298919.7	+	8	1069	c.681G>A	c.(679-681)gaG>gaA	p.E227E	PDZRN4_ENST00000539469.2_Silent_p.E229E|PDZRN4_ENST00000402685.2_Silent_p.E487E			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	487	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAAGGCCAGAGATTCAGGTCA	0.393000													26	30					0	0	0.001786	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370452	38370452	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38370452C>T	ENST00000322350.5	+	6	946	c.600C>T	c.(598-600)tcC>tcT	p.S200S	EGFLAM_ENST00000354891.3_Silent_p.S200S	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	200	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGATGGACTCCATGGTTATCA	0.498000													34	38					0	0	0.001485	0	0
TTN	7273	broad.mit.edu	37	2	179576946	179576946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179576946G>A	ENST00000589042.1	-	96	27835	c.27611C>T	c.(27610-27612)cCa>cTa	p.P9204L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P8887L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P7960L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8887	Ig-like 75.						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)			AAAATACGGTGGTTCTGCAGC	0.443000													45	40					0	0	0.003214	0	0
ATP10A	57194	broad.mit.edu	37	15	25924663	25924663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:25924663G>A	ENST00000356865.6	-	21	4436	c.4325C>T	c.(4324-4326)tCc>tTc	p.S1442F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1442					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)		CGACCAGGAGGAAATCCAGTT	0.607000													11	13					0	0	0.000673	0	0
CD1C	911	broad.mit.edu	37	1	158262655	158262655	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158262655C>T	ENST00000368170.3	+	4	1159	c.880C>T	c.(880-882)Ctc>Ttc	p.L294F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	294	Ig-like.				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGACATCATCCTCTACTGGGG	0.532000													15	25					0	0	0.006122	0	0
SAGE1	55511	broad.mit.edu	37	X	134988657	134988657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:134988657G>A	ENST00000535938.1	+	7	850	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.R228Q|SAGE1_ENST00000324447.3_Missense_Mutation_p.R228Q	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	228								p.R228Q(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTTCGACCACGGCGTATTAAT	0.418000													43	18					0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	40827881	40827881	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:40827881G>A	ENST00000373198.3	-	17	2791	c.2557_splice	c.e17+1	p.F852_splice	PTPRT_ENST00000373184.1_Splice_Site_p.F820_splice|PTPRT_ENST00000373201.1_Splice_Site_p.F820_splice|PTPRT_ENST00000356100.2_Splice_Site_p.F839_splice|PTPRT_ENST00000373187.1_Splice_Site_p.F830_splice|PTPRT_ENST00000373190.1_Splice_Site_p.F830_splice|PTPRT_ENST00000373193.3_Splice_Site_p.F833_splice	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	830					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTACTTACTGAATCCGTTGA	0.562000													122	353					0	0	0.003610	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814467	106814467	+	Silent	SNP	G	G	A	rs111634505		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:106814467G>A	ENST00000407775.2	+	8	2407	c.2157G>A	c.(2155-2157)aaG>aaA	p.K719K	ZFPM2_ENST00000517361.1_Silent_p.K587K|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.K450K|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.K587K|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	719					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCCACTGAAGAGGTCTGCTT	0.512000													27	15					0	0	0.001271	0	0
KMO	8564	broad.mit.edu	37	1	241753371	241753371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:241753371C>T	ENST00000366559.4	+	13	1467	c.1156C>T	c.(1156-1158)Ctt>Ttt	p.L386F	KMO_ENST00000366557.4_Intron|KMO_ENST00000366558.3_Missense_Mutation_p.L373F	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	386					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GGAGAGATTTCTTCATGCGAT	0.378000													69	57					0	0	0.003610	0	0
UNC45B	146862	broad.mit.edu	37	17	33513464	33513464	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:33513464C>T	ENST00000268876.5	+	20	2779	c.2682C>T	c.(2680-2682)atC>atT	p.I894I	UNC45B_ENST00000591048.1_Silent_p.I813I|UNC45B_ENST00000378449.1_Silent_p.I813I|UNC45B_ENST00000433649.1_Silent_p.I892I|UNC45B_ENST00000394570.2_Silent_p.I892I	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	894					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCTGGAGATCCTGACTGTGG	0.537000													12	20					0	0	0.001368	0	0
SLC12A1	6557	broad.mit.edu	37	15	48499970	48499970	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:48499970C>T	ENST00000396577.3	+	2	269	c.54C>T	c.(52-54)acC>acT	p.T18T	SLC12A1_ENST00000561031.1_Silent_p.T18T|SLC12A1_ENST00000380993.3_Silent_p.T18T|SLC12A1_ENST00000558405.1_Silent_p.T18T|SLC12A1_ENST00000330289.6_Silent_p.T18T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	18					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCAGTAATACCAATCGCTTTC	0.393000													12	30					0	0	0.001368	0	0
XDH	7498	broad.mit.edu	37	2	31589781	31589781	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:31589781C>T	ENST00000379416.3	-	21	2325	c.2277G>A	c.(2275-2277)ggG>ggA	p.G759G		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	759					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCTCCATCTCCCCTGCCTCGC	0.557000													36	49					0	0	0.004878	0	0
AGXT	189	broad.mit.edu	37	2	241815352	241815352	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:241815352G>A	ENST00000307503.3	+	8	1164	c.776_splice	c.e8-1	p.M259_splice		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	259					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGTCTTCCAGGTACCATCACA	0.612000													9	8					0	0	0.000443	0	0
SOBP	55084	broad.mit.edu	37	6	107956606	107956606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:107956606G>A	ENST00000317357.5	+	6	3217	c.2558G>A	c.(2557-2559)gGg>gAg	p.G853E	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	853							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCAGCGCCGGGCCTGAGGAC	0.602000													49	57					0	0	0.003610	0	0
PGR	5241	broad.mit.edu	37	11	100999088	100999088	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100999088C>T	ENST00000325455.5	-	1	2167	c.714G>A	c.(712-714)aaG>aaA	p.K238K	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Silent_p.K238K	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	238	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GAGGTTTGCCCTTCAGAAGCG	0.726000													6	12					0	0	0.001984	0	0
APOB	338	broad.mit.edu	37	2	21230212	21230212	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:21230212C>T	ENST00000233242.1	-	26	9655	c.9528G>A	c.(9526-9528)caG>caA	p.Q3176Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3176	Basic (possible receptor binding region).|Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTTCTTATACTGAGCTTTTA	0.368000													236	348					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70917925	70917925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70917925C>T	ENST00000393567.2	-	59	10027	c.9877G>A	c.(9877-9879)Gga>Aga	p.G3293R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3293										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCACACTTTCCCATGGCGTCA	0.562000													22	23					0	0	0.002780	0	0
COL8A1	1295	broad.mit.edu	37	3	99513301	99513301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:99513301G>A	ENST00000261037.3	+	5	936	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	COL8A1_ENST00000273342.4_Missense_Mutation_p.E186K	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	186	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ACAGAAAGGGGAAATTGGGCC	0.587000													8	22					0	0	0.004482	0	0
TAT	6898	broad.mit.edu	37	16	71602055	71602055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:71602055C>T	ENST00000355962.4	-	12	1490	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	453					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GCCTATTTATCACACTCCTCC	0.582000													13	34					0	0	0.003163	0	0
AGTR1	185	broad.mit.edu	37	3	148459740	148459740	+	Silent	SNP	G	G	A	rs1064535		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:148459740G>A	ENST00000542281.1	+	4	1364	c.918G>A	c.(916-918)ggG>ggA	p.G306G	AGTR1_ENST00000418473.2_Silent_p.G306G|AGTR1_ENST00000497524.1_Silent_p.G306G|AGTR1_ENST00000475347.1_Silent_p.G306G|AGTR1_ENST00000402260.1_Silent_p.G306G|AGTR1_ENST00000349243.3_Silent_p.G306G|AGTR1_ENST00000474935.1_Silent_p.G306G|AGTR1_ENST00000461609.1_Silent_p.G306G|AGTR1_ENST00000404754.2_Silent_p.G306G	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	306					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCTTTCTGGGGAAAAAATTTA	0.368000													42	36					0	0	0.001287	0	0
MAATS1	89876	broad.mit.edu	37	3	119426309	119426309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:119426309C>T	ENST00000273390.5	+	3	337	c.260C>T	c.(259-261)tCt>tTt	p.S87F	MAATS1_ENST00000463700.1_Missense_Mutation_p.S87F	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CCAAGATATTCTCTATATTGG	0.438000													35	45					0	0	0.003271	0	0
TRAV9-2	28677	broad.mit.edu	37	14	22409688	22409688	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22409688G>A	ENST00000390441.2	+	0	234																											CCAATATCCTGGAGAAGGTCT	0.488000													28	37					0	0	0.002096	0	0
TNXB	7148	broad.mit.edu	37	6	32020708	32020708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32020708C>T	ENST00000375244.3	-	26	9055	c.8854G>A	c.(8854-8856)Gag>Aag	p.E2952K	TNXB_ENST00000375247.2_Missense_Mutation_p.E2950K			P22105	TENX_HUMAN	tenascin XB	2997	Fibronectin type-III 21.				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						AGGAGCGGCTCCTCAGGGGGC	0.652000													82	147					0	0	0.003610	0	0
EPHB3	2049	broad.mit.edu	37	3	184295742	184295742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:184295742G>A	ENST00000330394.2	+	8	2148	c.1696G>A	c.(1696-1698)Gct>Act	p.A566T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	566						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTCCGCTACAGCTGGGCTTGT	0.627000													28	43					0	0	0.002096	0	0
IDO1	3620	broad.mit.edu	37	8	39780107	39780107	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:39780107C>T	ENST00000518237.1	+	6	1113	c.474C>T	c.(472-474)gaC>gaT	p.D158D	IDO1_ENST00000522495.1_Silent_p.D158D|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	158					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GTGATGGAGACTGCAGTAAAG	0.368000													41	10					0	0	0.003610	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85554394	85554394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:85554394C>T	ENST00000393217.2	+	24	4785	c.4724C>T	c.(4723-4725)tCc>tTc	p.S1575F	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1575										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGTTTAGATTCCACTGTGCGT	0.343000													28	38					0	0	0.001786	0	0
RP1	6101	broad.mit.edu	37	8	55542638	55542638	+	Missense_Mutation	SNP	G	G	A	rs149282954	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:55542638G>A	ENST00000220676.1	+	4	6344	c.6196G>A	c.(6196-6198)Gat>Aat	p.D2066N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2066					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D2066N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAAAGCAGTCGATGAGAATAA	0.338000													28	20					0	0	0.005443	0	0
EMR1	2015	broad.mit.edu	37	19	6926380	6926380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6926380G>A	ENST00000312053.4	+	16	2027	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S	EMR1_ENST00000381407.5_Missense_Mutation_p.G523S|EMR1_ENST00000250572.8_Missense_Mutation_p.G599S|EMR1_ENST00000381404.4_Missense_Mutation_p.G612S|EMR1_ENST00000450315.3_Missense_Mutation_p.G487S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	664					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CCTCCAGATGGGCTGCGCCAT	0.532000													21	25					0	0	0.003954	0	0
RBM45	129831	broad.mit.edu	37	2	178988960	178988960	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:178988960T>A	ENST00000286070.5	+	8	1267	c.1175T>A	c.(1174-1176)cTt>cAt	p.L392H		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	394	RRM 3.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AAAGAAAGACTTTTTATTGTG	0.338000													29	59					0	0	0.001512	0	0
SALL1	6299	broad.mit.edu	37	16	51174308	51174308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:51174308G>A	ENST00000440970.1	-	2	1965	c.1534C>T	c.(1534-1536)Cca>Tca	p.P512S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P609S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	609					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTTCCTCTGGGAGCCCACCT	0.622000													12	16					0	0	0.001368	0	0
YBX2	51087	broad.mit.edu	37	17	7193773	7193773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7193773G>A	ENST00000007699.5	-	5	604	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	181					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						ATGAATCGGCGGGACTTACGT	0.647000													28	6					0	0	0.001512	0	0
YIPF3	25844	broad.mit.edu	37	6	43484482	43484482	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:43484482A>G	ENST00000372422.2	-	1	246	c.64T>C	c.(64-66)Ttc>Ctc	p.F22L	YIPF3_ENST00000506469.1_Missense_Mutation_p.F22L	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	22					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTTTCTTCGAACCCTCCCCAT	0.662000													5	6					0	0	0.000602	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115526406	115526406	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:115526406G>A	ENST00000361048.1	+	4	480	c.153G>A	c.(151-153)aaG>aaA	p.K51K	PLEKHS1_ENST00000369310.3_Silent_p.K45K|PLEKHS1_ENST00000369312.4_5'UTR	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		TCCTGTCAAAGGCTGGGGAAA	0.328000													28	60					0	0	0.002445	0	0
SH3RF1	57630	broad.mit.edu	37	4	170077708	170077708	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:170077708G>A	ENST00000284637.9	-	3	857	c.516C>T	c.(514-516)taC>taT	p.Y172Y	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	172	SH3 1.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTTCCCCATGGTACCAATTTT	0.428000													46	66					0	0	0.003610	0	0
LDB3	11155	broad.mit.edu	37	10	88439889	88439889	+	Missense_Mutation	SNP	C	C	T	rs148638169		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:88439889C>T	ENST00000429277.2	+	4	441	c.296C>T	c.(295-297)cCt>cTt	p.P99L	LDB3_ENST00000372056.4_Missense_Mutation_p.P99L|LDB3_ENST00000372066.3_Missense_Mutation_p.P99L|LDB3_ENST00000352360.5_Missense_Mutation_p.P99L|LDB3_ENST00000310944.6_Missense_Mutation_p.P99L|LDB3_ENST00000458213.2_Missense_Mutation_p.P99L|LDB3_ENST00000542786.1_Missense_Mutation_p.P99L|LDB3_ENST00000361373.4_Missense_Mutation_p.P99L|LDB3_ENST00000263066.6_Missense_Mutation_p.P99L	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	99						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GTCCAGACCCCTCTGCCGGTG	0.622000													10	20					0	0	0.000978	0	0
ZP1	22917	broad.mit.edu	37	11	60638726	60638726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:60638726G>A	ENST00000278853.5	+	6	1051	c.1051G>A	c.(1051-1053)Gtg>Atg	p.V351M		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	351	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GAACTGGCTGGTGTCTGGCAT	0.622000													8	19					0	0	0.003080	0	0
FGL1	2267	broad.mit.edu	37	8	17743010	17743010	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:17743010C>T	ENST00000398056.2	-	4	869	c.54G>A	c.(52-54)agG>agA	p.R18R	FGL1_ENST00000518650.1_Silent_p.R18R|FGL1_ENST00000522444.1_Silent_p.R18R|FGL1_ENST00000381840.2_Silent_p.R18R|FGL1_ENST00000398054.1_Silent_p.R18R|FGL1_ENST00000427924.1_Silent_p.R18R|FGL1_ENST00000381841.2_Silent_p.R18R			Q08830	FGL1_HUMAN	fibrinogen-like 1	18					signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		CCGAAATTTCCCTGCCCATTG	0.353000													28	12					0	0	0.003271	0	0
CAMK2B	816	broad.mit.edu	37	7	44286760	44286760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:44286760G>A	ENST00000395749.2	-	6	449	c.373C>T	c.(373-375)Ctc>Ttc	p.L125F	CAMK2B_ENST00000358707.3_Missense_Mutation_p.L125F|CAMK2B_ENST00000353625.4_Missense_Mutation_p.L125F|CAMK2B_ENST00000395747.2_Missense_Mutation_p.L125F|CAMK2B_ENST00000258682.6_Missense_Mutation_p.L125F|CAMK2B_ENST00000457475.1_Missense_Mutation_p.L125F|CAMK2B_ENST00000346990.4_Missense_Mutation_p.L125F|CAMK2B_ENST00000347193.4_Missense_Mutation_p.L125F|CAMK2B_ENST00000350811.3_Missense_Mutation_p.L125F|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000440254.2_Missense_Mutation_p.L125F	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	125	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						TGACAATGGAGAACGGCCTCC	0.592000													8	12					0	0	0.000673	0	0
KLRC4-KLRK1	100528032	broad.mit.edu	37	12	10560950	10560950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:10560950G>A	ENST00000539300.1	-	3	291	c.292C>T	c.(292-294)Cct>Tct	p.P98S	KLRC4_ENST00000309384.1_Silent_p.S106S																							TTCTATTCAGGGAAAAATTGT	0.279000													14	16					0	0	0.004990	0	0
NCOA3	8202	broad.mit.edu	37	20	46281231	46281231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:46281231C>T	ENST00000372004.3	+	21	4232	c.4016C>T	c.(4015-4017)tCc>tTc	p.S1339F	NCOA3_ENST00000371997.3_Missense_Mutation_p.S1334F|NCOA3_ENST00000371998.3_Missense_Mutation_p.S1343F|NCOA3_ENST00000341724.6_Missense_Mutation_p.S1269F	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1343					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATGGGTCCCTCCCAGAATCCC	0.483000													13	47					0	0	0.002450	0	0
SCN1A	6323	broad.mit.edu	37	2	166901660	166901660	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166901660C>T	ENST00000423058.2	-	10	1572	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E519K|SCN1A_ENST00000375405.3_Missense_Mutation_p.E519K|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.E519K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	519						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTTGGAATTCATCCTCATCT	0.438000													66	89					0	0	0.003610	0	0
INADL	10207	broad.mit.edu	37	1	62263076	62263076	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:62263076C>T	ENST00000371158.2	+	11	1492	c.1378C>T	c.(1378-1380)Cca>Tca	p.P460S	INADL_ENST00000316485.6_Missense_Mutation_p.P460S	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	460					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATCTACTTCTCCACTTGAACC	0.443000													45	62					0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36897005	36897005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36897005G>A	ENST00000429976.2	-	12	4323	c.4076C>T	c.(4075-4077)tCc>tTc	p.S1359F	TRANK1_ENST00000301807.6_Missense_Mutation_p.S809F|TRANK1_ENST00000428977.2_Missense_Mutation_p.S809F			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1359					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTTTCTGGGACCTGATTTG	0.473000													49	74					0	0	0.003610	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095023	69095023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:69095023C>T	ENST00000332644.5	-	8	1059	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	300	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TTGTCATTTTCTGAGAGCTTC	0.348000													29	51					0	0	0.003271	0	0
ZNF556	80032	broad.mit.edu	37	19	2877898	2877898	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:2877898C>T	ENST00000586426.1	+	4	1026	c.939C>T	c.(937-939)ccC>ccT	p.P313P	ZNF556_ENST00000307635.2_Silent_p.P314P			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GGGAGAAACCCTATAAGTGTG	0.527000													20	13					0	0	0.001882	0	0
OR2T10	127069	broad.mit.edu	37	1	248756989	248756989	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248756989G>A	ENST00000330500.2	-	1	111	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGCAAGCAGAGGCGGCCAG	0.478000													27	29					0	0	0.001061	0	0
MUC15	143662	broad.mit.edu	37	11	26587249	26587249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:26587249C>T	ENST00000436318.2	-	2	371	c.238G>A	c.(238-240)Gca>Aca	p.A80T	MUC15_ENST00000527569.1_Missense_Mutation_p.A80T|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.A80T|MUC15_ENST00000455601.2_Missense_Mutation_p.A53T|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.A80T			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	53						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTTAAGTTTGCTTCACTTTCC	0.368000													27	23					0	0	0.003954	0	0
ATM	472	broad.mit.edu	37	11	108164093	108164093	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:108164093C>T	ENST00000278616.4	+	31	5050	c.4665C>T	c.(4663-4665)ctC>ctT	p.L1555L	ATM_ENST00000452508.2_Silent_p.L1555L	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1555					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGAAAACCTCTATATCACGA	0.279000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			27	39					0	0	0.003954	0	0
SYT1	6857	broad.mit.edu	37	12	79693260	79693260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:79693260C>T	ENST00000261205.4	+	8	1396	c.739C>T	c.(739-741)Cct>Tct	p.P247S	SYT1_ENST00000393240.3_Missense_Mutation_p.P247S|SYT1_ENST00000457153.2_Missense_Mutation_p.P244S|SYT1_ENST00000552744.1_Missense_Mutation_p.P247S	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	247	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATTTAAAGTCCCTATGAACAC	0.418000													32	37					0	0	0.001512	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565410	11565410	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:11565410C>T	ENST00000359227.3	-	7	1459	c.1035G>A	c.(1033-1035)ctG>ctA	p.L345L	ELAVL3_ENST00000438662.2_Silent_p.L338L	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	345	RRM 3.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GATAGCCGTTCAGGCTGGCGA	0.622000													24	44					0	0	0.002780	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064472	78064472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:78064472G>A	ENST00000299642.4	+	3	440	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.E110K|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	110	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.E110*(1)|p.E110Q(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAACTCCGACGAAATCAACGC	0.478000													22	25					0	0	0.002780	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921430	25921430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:25921430G>A	ENST00000377850.3	-	4	975	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	SLC17A2_ENST00000360488.3_Missense_Mutation_p.R151W|SLC17A2_ENST00000265425.3_Missense_Mutation_p.R151W			O00624	NPT3_HUMAN	solute carrier family 17, member 2	151					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGGACTGTCCGAACCATGATG	0.438000													22	45					0	0	0.003330	0	0
USP7	7874	broad.mit.edu	37	16	8995939	8995939	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:8995939G>A	ENST00000344836.4	-	18	2245	c.2047_splice	c.e18+1	p.H683_splice	USP7_ENST00000381886.4_Splice_Site_p.H667_splice|USP7_ENST00000535863.1_Splice_Site_p.H584_splice	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	683	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GGGCACTTACGATCTTTATCA	0.483000													23	37					0	0	0.002780	0	0
CHST8	64377	broad.mit.edu	37	19	34263248	34263248	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:34263248C>T	ENST00000262622.3	+	4	1313	c.555C>T	c.(553-555)ttC>ttT	p.F185F	CHST8_ENST00000438847.2_Silent_p.F185F|CHST8_ENST00000434302.1_Silent_p.F185F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	185					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCCGTATCTTCGTGGAGGACC	0.706000													15	16					0	0	0.004007	0	0
MYO5B	4645	broad.mit.edu	37	18	47390738	47390738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:47390738C>T	ENST00000285039.7	-	28	3915	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K	MYO5B_ENST00000587895.1_5'UTR|MYO5B_ENST00000324581.6_Missense_Mutation_p.E347K	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1206					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTCTCTGACTCCAGCTCTTGC	0.582000													58	76					0	0	0.003610	0	0
CILP2	148113	broad.mit.edu	37	19	19654194	19654194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:19654194C>T	ENST00000586018.1	+	7	1235	c.1133C>T	c.(1132-1134)aCt>aTt	p.T378I	CILP2_ENST00000291495.4_Missense_Mutation_p.T372I			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	372						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCTCGGGCACTGCCCGGCTC	0.647000													23	32					0	0	0.003330	0	0
EDA2R	60401	broad.mit.edu	37	X	65825019	65825019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:65825019G>A	ENST00000374719.3	-	3	193	c.137C>T	c.(136-138)cCt>cTt	p.P46L	EDA2R_ENST00000253392.5_Missense_Mutation_p.P46L|EDA2R_ENST00000450752.1_Missense_Mutation_p.P46L|EDA2R_ENST00000456230.2_Missense_Mutation_p.P46L|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000396050.1_Missense_Mutation_p.P46L	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	46					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GTACCTGCGAGGAGGGCAGGC	0.512000													8	0					0	0	0.000443	0	0
MYH13	8735	broad.mit.edu	37	17	10258066	10258066	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10258066G>A	ENST00000418404.3	-	10	1099	c.936C>T	c.(934-936)ttC>ttT	p.F312F	MYH13_ENST00000252172.4_Silent_p.F312F|MYH13_ENST00000570743.1_Silent_p.F312F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	312	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCACGAAGGGGAAGTCGAAGG	0.458000													50	20					0	0	0.003610	0	0
LYG2	254773	broad.mit.edu	37	2	99860566	99860566	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:99860566C>T	ENST00000409679.1	-	5	560	c.416G>A	c.(415-417)tGg>tAg	p.W139*	LYG2_ENST00000333017.2_Nonsense_Mutation_p.W139*|LYG2_ENST00000409238.1_Nonsense_Mutation_p.W139*			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	139					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TTTGCTATCCCAGGCACCGAC	0.433000													17	21					0	0	0.000958	0	0
GBA3	57733	broad.mit.edu	37	4	22729308	22729308	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:22729308G>A	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTTTCAAATGAAGATGGAGA	0.408000													72	82					0	0	0.003610	0	0
OR2A5	393046	broad.mit.edu	37	7	143748032	143748032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143748032G>A	ENST00000408906.2	+	1	572	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTTCTTCTGTGAAATCCTGTC	0.557000													46	114					0	0	0.003610	0	0
FSTL5	56884	broad.mit.edu	37	4	162697192	162697192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:162697192C>T	ENST00000306100.5	-	5	880	c.444G>A	c.(442-444)atG>atA	p.M148I	FSTL5_ENST00000536695.1_Missense_Mutation_p.M147I|FSTL5_ENST00000379164.4_Missense_Mutation_p.M147I|FSTL5_ENST00000427802.2_Missense_Mutation_p.M147I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	148						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCATATTTTTCATCTTGCTGT	0.289000													9	15					0	0	0.000673	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113559025	113559025	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:113559025C>T	ENST00000284601.3	-	1	95	c.27G>A	c.(25-27)caG>caA	p.Q9Q		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	9					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTGCTAATCTGACTAGGTA	0.383000													43	30					0	0	0.002222	0	0
TMEM156	80008	broad.mit.edu	37	4	38995416	38995416	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:38995416G>A	ENST00000381938.3	-	3	668	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	187						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GGTATTCCATGATTCTACAAG	0.353000													41	68					0	0	0.002522	0	0
TLR5	7100	broad.mit.edu	37	1	223286250	223286250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:223286250G>A	ENST00000540964.1	-	4	585	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	TLR5_ENST00000342210.6_Missense_Mutation_p.P42S			O60602	TLR5_HUMAN	toll-like receptor 5	42					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGGACCTGGGGGACCTGGGTG	0.537000													13	31					0	0	0.001368	0	0
CRH	1392	broad.mit.edu	37	8	67089270	67089270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:67089270G>A	ENST00000276571.3	-	2	889	c.443C>T	c.(442-444)cCg>cTg	p.P148L		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	148					female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	TTCTCTCTCCGGTGCCTCCTG	0.677000											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	9					0	0	0.004482	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31123826	31123826	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:31123826C>T	ENST00000304166.4	+	7	688	c.399C>T	c.(397-399)gcC>gcT	p.A133A	ADCYAP1R1_ENST00000409489.1_Silent_p.A133A|ADCYAP1R1_ENST00000396211.2_Silent_p.A133A|ADCYAP1R1_ENST00000409363.1_Silent_p.A112A	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	133	Important for ligand binding and specificity.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACTTTGATGCCTGTGGGTTTG	0.547000													42	65					0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41195936	41195936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41195936C>T	ENST00000263413.3	-	5	809	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	C6_ENST00000337836.5_Missense_Mutation_p.R182Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	182	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATTATACTTCCGTGTGCATAC	0.443000													32	50					0	0	0.002445	0	0
TRBC2	28638	broad.mit.edu	37	7	142498751	142498751	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142498751G>A	ENST00000466254.1	+	0	27																											GTTCCCACCCGAGGTCGCTGT	0.567000													41	29					0	0	0.003610	0	0
XYLB	9942	broad.mit.edu	37	3	38438647	38438647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38438647C>T	ENST00000207870.3	+	17	1525	c.1435C>T	c.(1435-1437)Cat>Tat	p.H479Y	XYLB_ENST00000542835.1_Missense_Mutation_p.H342Y|XYLB_ENST00000472721.1_3'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	479					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CCGAGCTTTTCATGGTAGGTT	0.537000													14	26					0	0	0.003163	0	0
GJA10	84694	broad.mit.edu	37	6	90604881	90604881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:90604881C>T	ENST00000369352.1	+	1	694	c.694C>T	c.(694-696)Cat>Tat	p.H232Y		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	232					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		GGAAATATTTCATCTAGGCAT	0.388000													34	46					0	0	0.004289	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552637	57552637	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:57552637T>A	ENST00000258214.2	-	5	1184	c.938A>T	c.(937-939)gAg>gTg	p.E313V		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	313										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTGGTGCGCCTCCTTCAGGAT	0.637000													5	3					0	0	0.000602	0	0
OR4K13	390433	broad.mit.edu	37	14	20502373	20502373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20502373G>A	ENST00000315693.2	-	1	546	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P182H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AATCACAAGGGGAAGGTCACA	0.473000													23	46					0	0	0.002780	0	0
NLRC5	84166	broad.mit.edu	37	16	57113139	57113139	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:57113139G>A	ENST00000262510.6	+	45	5397	c.5172G>A	c.(5170-5172)gcG>gcA	p.A1724A	NLRC5_ENST00000539144.1_Silent_p.A1695A|NLRC5_ENST00000308149.7_Silent_p.A1695A|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1724					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCAGCTTGGCGGAAAACAACC	0.617000													20	30					0	0	0.003330	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36268736	36268736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36268736C>T	ENST00000007510.4	+	3	259	c.115C>T	c.(115-117)Cct>Tct	p.P39S	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000378944.5_5'UTR|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P39S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	39					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCTCTCAGCTCCTCGAGGCCC	0.607000													30	59					0	0	0.001512	0	0
MUC16	94025	broad.mit.edu	37	19	9046028	9046028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9046028G>A	ENST00000397910.4	-	5	35806	c.35603C>T	c.(35602-35604)tCc>tTc	p.S11868F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11870	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						TAAACCAAGGGAAAGAGTTGA	0.502000													56	70					0	0	0.003610	0	0
CLIC6	54102	broad.mit.edu	37	21	36081767	36081767	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:36081767G>A	ENST00000360731.3	+	6	1884	c.1884G>A	c.(1882-1884)agG>agA	p.R628R	CLIC6_ENST00000349499.2_Silent_p.R610R			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	628	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TTTCTGGAAGGAAGTTTCTGG	0.507000													24	20					0	0	0.002299	0	0
TEX13A	56157	broad.mit.edu	37	X	104463949	104463949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:104463949G>A	ENST00000372578.3	-	3	1040	c.929C>T	c.(928-930)cCt>cTt	p.P310L	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Silent_p.S309S|TEX13A_ENST00000372575.1_Missense_Mutation_p.P310L|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	0						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CTGAGAAGGAGGAAAAAGGGC	0.532000													18	5					0	0	0.001523	0	0
NFX1	4799	broad.mit.edu	37	9	33366686	33366686	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:33366686C>T	ENST00000379540.3	+	22	3161	c.3099C>T	c.(3097-3099)atC>atT	p.I1033I	NFX1_ENST00000463421.1_3'UTR	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	1033	R3H.				inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ACCGCCGGATCATCCATGACT	0.493000													10	4					0	0	0.000673	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785223	1785223	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1785223A>T	ENST00000539485.1	-	27	3730	c.3497T>A	c.(3496-3498)aTc>aAc	p.I1166N	ATP8B3_ENST00000310127.6_Missense_Mutation_p.I1156N|ATP8B3_ENST00000525591.1_Missense_Mutation_p.I1119N			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1156					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GGTAGTCATGATGGCGTAGAA	0.587000													11	9					0	0	0.001368	0	0
LMF1	64788	broad.mit.edu	37	16	960943	960943	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:960943G>A	ENST00000262301.11	-	4	669	c.651C>T	c.(649-651)atC>atT	p.I217I	LMF1_ENST00000568897.1_5'UTR|LMF1_ENST00000539379.1_3'UTR|LMF1_ENST00000399843.2_Silent_p.I217I|LMF1_ENST00000543238.1_Intron	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	217						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				CTCCAAGCATGATCCTGAAGA	0.567000													11	12					0	0	0.001368	0	0
STAB1	23166	broad.mit.edu	37	3	52539154	52539154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:52539154C>T	ENST00000321725.6	+	13	1589	c.1513C>T	c.(1513-1515)Ccc>Tcc	p.P505S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	505					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCTGGGGATCCCAAGGTGAG	0.612000													22	34					0	0	0.001061	0	0
SERPINH1	871	broad.mit.edu	37	11	75279855	75279855	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:75279855C>T	ENST00000524558.1	+	3	2137	c.702C>T	c.(700-702)gtC>gtT	p.V234V	SERPINH1_ENST00000530284.1_Silent_p.V234V|SERPINH1_ENST00000358171.3_Silent_p.V234V|SERPINH1_ENST00000525876.1_Silent_p.V17V|SERPINH1_ENST00000533603.1_Silent_p.V234V			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	234					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCGTGGGTGTCATGATGATGC	0.567000													18	22					0	0	0.001216	0	0
THBS1	7057	broad.mit.edu	37	15	39885656	39885656	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39885656G>A	ENST00000260356.5	+	19	3219	c.3054G>A	c.(3052-3054)agG>agA	p.R1018R		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1018	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACACCGAAAGGGACGATGACT	0.498000													74	102					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179449576	179449576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179449576C>T	ENST00000589042.1	-	310	65016	c.64792G>A	c.(64792-64794)Gag>Aag	p.E21598K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E12533K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E19957K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12658K|TTN_ENST00000342992.6_Missense_Mutation_p.E19030K|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12725K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19957							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)			TCACACTTCTCCACTATATAA	0.502000													39	77					0	0	0.001951	0	0
SNX13	23161	broad.mit.edu	37	7	17908089	17908089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:17908089G>A	ENST00000409389.1	-	9	950	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	SNX13_ENST00000428135.3_Missense_Mutation_p.L260F			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	260	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATTAATGGAAGAAGAATTCCT	0.274000													22	30					0	0	0.002780	0	0
NLRP4	147945	broad.mit.edu	37	19	56363517	56363517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56363517G>A	ENST00000301295.6	+	2	493	c.71G>A	c.(70-72)aGg>aAg	p.R24K	NLRP4_ENST00000346986.5_Missense_Mutation_p.R24K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	24	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAGGAGTTCAGGAAATTTAAA	0.433000													87	85					0	0	0.003610	0	0
ATP1A2	477	broad.mit.edu	37	1	160104985	160104985	+	Missense_Mutation	SNP	C	C	T	rs145701604		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160104985C>T	ENST00000361216.3	+	15	2104	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.S672L|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	672					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GACATGACATCGGAGCAGCTC	0.577000													24	39					0	0	0.004656	0	0
UNC45B	146862	broad.mit.edu	37	17	33503053	33503053	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:33503053G>A	ENST00000268876.5	+	15	2128	c.2031_splice	c.e15+1	p.K677_splice	UNC45B_ENST00000591048.1_Splice_Site_p.K596_splice|UNC45B_ENST00000378449.1_Splice_Site_p.K596_splice|UNC45B_ENST00000433649.1_Splice_Site_p.K675_splice|UNC45B_ENST00000394570.2_Splice_Site_p.K675_splice	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	677					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTGGTGGCAAGGTAACTGGGC	0.527000													35	9					0	0	0.001951	0	0
HTN1	3346	broad.mit.edu	37	4	70920148	70920148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:70920148G>A	ENST00000511674.1	+	4	154	c.83G>A	c.(82-84)gGg>gAg	p.G28E	HTN1_ENST00000246896.3_Missense_Mutation_p.G28E			P15515	HIS1_HUMAN	histatin 1	28					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						AGACATCATGGGTATAGAAGA	0.274000													9	32					0	0	0.004482	0	0
RERE	473	broad.mit.edu	37	1	8418851	8418851	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:8418851G>A	ENST00000337907.3	-	21	4378	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P	RERE_ENST00000400908.2_Silent_p.P1248P|RERE_ENST00000476556.1_Silent_p.P694P|RERE_ENST00000377464.1_Silent_p.P980P|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1248					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGGTGTGTCGGGCCCGATGT	0.652000													34	35					0	0	0.003755	0	0
LMLN	89782	broad.mit.edu	37	3	197765453	197765453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:197765453C>T	ENST00000330198.4	+	16	1905	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	LMLN_ENST00000332636.5_Missense_Mutation_p.S576F|LMLN-AS1_ENST00000423460.1_RNA|LMLN_ENST00000420910.2_Missense_Mutation_p.S665F|LMLN_ENST00000482695.1_Missense_Mutation_p.S613F	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	628					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TGTTCCTGTTCCTCGAGCCTG	0.403000													69	125					0	0	0.003610	0	0
FAM71B	153745	broad.mit.edu	37	5	156589728	156589728	+	Silent	SNP	C	C	T	rs147642455		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:156589728C>T	ENST00000302938.4	-	2	1643	c.1548G>A	c.(1546-1548)ggG>ggA	p.G516G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	516						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATTGGTTCTTCCCCAGTTCCT	0.498000													191	79					0	0	0.003610	0	0
TRIM45	80263	broad.mit.edu	37	1	117663645	117663645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:117663645G>A	ENST00000256649.4	-	1	705	c.179C>T	c.(178-180)tCa>tTa	p.S60L	TRIM45_ENST00000369464.3_Missense_Mutation_p.S60L|TRIM45_ENST00000369461.3_Intron	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	60						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GTCCACTACTGAGAAGGGCTC	0.557000													30	35					0	0	0.002096	0	0
MIR325	442899	broad.mit.edu	37	X	76225921	76225921	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:76225921C>T	ENST00000385260.1	-	0	5					NR_029905.1																						gaaccaagcactgtattggtt	0.388000													61	13					0	0	0.003610	0	0
OR6C4	341418	broad.mit.edu	37	12	55945721	55945721	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55945721C>T	ENST00000394256.2	+	1	739	c.711C>T	c.(709-711)tcC>tcT	p.S237S	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGGCCTTTTCCACTTGTTCCT	0.443000													23	47					0	0	0.003330	0	0
C2orf71	388939	broad.mit.edu	37	2	29294859	29294859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:29294859G>A	ENST00000331664.5	-	1	2268	c.2269C>T	c.(2269-2271)Ccc>Tcc	p.P757S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	757					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGAGGCAGGGACTTGCCCCA	0.542000													18	19					0	0	0.006122	0	0
CUX2	23316	broad.mit.edu	37	12	111729321	111729321	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:111729321C>T	ENST00000261726.6	+	5	555	c.401C>T	c.(400-402)tCg>tTg	p.S134L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	134						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCCACACTTCGTGGAAGAGG	0.602000													10	12					0	0	0.000978	0	0
TENM1	10178	broad.mit.edu	37	X	123539080	123539080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:123539080C>T	ENST00000422452.2	-	27	5255	c.5192G>A	c.(5191-5193)gGt>gAt	p.G1731D	TENM1_ENST00000371130.3_Missense_Mutation_p.G1724D|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACGCAGGGAACCATCTGGATT	0.542000													20	5					0	0	0.001216	0	0
NLGN1	22871	broad.mit.edu	37	3	173996672	173996672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:173996672C>T	ENST00000457714.1	+	6	1310	c.881C>T	c.(880-882)gCt>gTt	p.A294V	NLGN1_ENST00000361589.4_Missense_Mutation_p.A294V|NLGN1_ENST00000545397.1_Missense_Mutation_p.A294V|NLGN1_ENST00000401917.3_Missense_Mutation_p.A334V|NLGN1_ENST00000466350.1_3'UTR	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	311					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CGAGCAATAGCTCAAAGTGGA	0.368000													13	33					0	0	0.002450	0	0
MYCT1	80177	broad.mit.edu	37	6	153043113	153043113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:153043113C>T	ENST00000367245.5	+	2	441	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	145						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TCTCACCTTCCAGCGACAAGC	0.493000													28	67					0	0	0.002836	0	0
FBXL13	222235	broad.mit.edu	37	7	102518011	102518011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:102518011C>T	ENST00000393772.2	-	16	1964	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.R513Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.R513Q|FBXL13_ENST00000379305.3_Missense_Mutation_p.R513Q|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.R513Q|FBXL13_ENST00000313221.4_Missense_Mutation_p.R513Q			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	513										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTCACAATTTCGTAAACTCAA	0.323000													38	92					0	0	0.001951	0	0
CYP11B1	1584	broad.mit.edu	37	8	143959190	143959190	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:143959190G>A	ENST00000377675.3	-	4	597	c.591C>T	c.(589-591)ccC>ccT	p.P197P	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	133					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAGAGTGCGTGGGGGCTCCAT	0.542000									Familial Hyperaldosteronism type I				22	33					0	0	0.001523	0	0
STAB2	55576	broad.mit.edu	37	12	104046430	104046430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:104046430G>A	ENST00000388887.2	+	12	1558	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	452	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAATAACACAGACATGTTCTA	0.388000													21	31					0	0	0.001882	0	0
PLBD1	79887	broad.mit.edu	37	12	14659889	14659889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:14659889C>T	ENST00000240617.5	-	9	2002	c.1350G>A	c.(1348-1350)atG>atA	p.M450I		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	450					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TGATATATTTCATGGATGCCG	0.398000													37	67					0	0	0.001485	0	0
FUT2	2524	broad.mit.edu	37	19	49206744	49206744	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49206744G>A	ENST00000425340.2	+	2	648	c.531G>A	c.(529-531)gaG>gaA	p.E177E	FUT2_ENST00000391876.4_Silent_p.E177E	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	177					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TGCGGGAGGAGGCCCAGAAGT	0.647000													15	27					0	0	0.003163	0	0
RBP4	5950	broad.mit.edu	37	10	95353622	95353622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95353622C>T	ENST00000371467.1	-	5	845	c.526G>A	c.(526-528)Gag>Aag	p.E176K	RBP4_ENST00000371464.3_Missense_Mutation_p.E176K|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371469.2_Missense_Mutation_p.E174K			P02753	RET4_HUMAN	retinol binding protein 4, plasma	176					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGGCACAGCTCCTCCTGCCGC	0.612000													32	60					0	0	0.005524	0	0
TRPC3	7222	broad.mit.edu	37	4	122853464	122853464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:122853464C>T	ENST00000264811.5	-	1	1148	c.730G>A	c.(730-732)Gag>Aag	p.E244K	TRPC3_ENST00000379645.3_Missense_Mutation_p.E317K|TRPC3_ENST00000513531.1_Missense_Mutation_p.E244K	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	232					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTGGCCAGCTCGTTGCTGAGC	0.607000													12	9					0	0	0.002450	0	0
FAT3	120114	broad.mit.edu	37	11	92086695	92086695	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92086695C>T	ENST00000298047.6	+	1	1434	c.1417C>T	c.(1417-1419)Cag>Tag	p.Q473*	FAT3_ENST00000541502.1_Nonsense_Mutation_p.Q473*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q473*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q323*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	473	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAGAATTTCAGCAACCACT	0.423000										TCGA Ovarian(4;0.039)			134	213					0	0	0.003610	0	0
ZNF680	340252	broad.mit.edu	37	7	63982354	63982354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:63982354G>A	ENST00000309683.6	-	4	929	c.778C>T	c.(778-780)Cat>Tat	p.H260Y	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TCTTCAATATGAATTTTCTTA	0.343000													14	11					0	0	0.002450	0	0
TNN	63923	broad.mit.edu	37	1	175046766	175046766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:175046766C>T	ENST00000239462.4	+	2	325	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	71					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)		GATGGGGCTTCGCTCTTGGCC	0.587000													22	11					0	0	0.003954	0	0
DSG1	1828	broad.mit.edu	37	18	28923419	28923419	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:28923419C>T	ENST00000257192.4	+	12	1906	c.1694C>T	c.(1693-1695)cCa>cTa	p.P565L	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	565					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCAGTGGTCCCATTTTTGATG	0.418000													46	98					0	0	0.003610	0	0
SNX20	124460	broad.mit.edu	37	16	50707519	50707519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:50707519C>T	ENST00000330943.4	-	4	920	c.749G>A	c.(748-750)gGa>gAa	p.G250E	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	250					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGCCCTCTCTCCGGCCGCGAA	0.751000													4	10					0	0	0.000602	0	0
ABCC6	368	broad.mit.edu	37	16	16297332	16297332	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:16297332G>A	ENST00000205557.7	-	8	962	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	311	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCCCAGGAGGAAGGTAGAAT	0.592000													29	48					0	0	0.002096	0	0
MXRA5	25878	broad.mit.edu	37	X	3240723	3240723	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:3240723A>G	ENST00000217939.6	-	5	3157	c.3003T>C	c.(3001-3003)ctT>ctC	p.L1001L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1001						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGGTTGGAGTAAGGTGTGCAA	0.468000													39	5					0	0	0.003214	0	0
LRRC55	219527	broad.mit.edu	37	11	56949683	56949683	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56949683C>T	ENST00000497933.1	+	1	463	c.316C>T	c.(316-318)Ctg>Ttg	p.L106L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	76						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCCCCCAGACCTGCCAATGGA	0.612000													10	10					0	0	0.000978	0	0
TNIK	23043	broad.mit.edu	37	3	170906561	170906561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:170906561C>T	ENST00000436636.2	-	7	913	c.569G>A	c.(568-570)gGa>gAa	p.G190E	TNIK_ENST00000460047.1_Missense_Mutation_p.G190E|TNIK_ENST00000475336.1_Missense_Mutation_p.G190E|TNIK_ENST00000470834.1_Missense_Mutation_p.G190E|TNIK_ENST00000538048.1_Missense_Mutation_p.G190E|TNIK_ENST00000341852.6_Missense_Mutation_p.G190E|TNIK_ENST00000284483.8_Missense_Mutation_p.G190E|TNIK_ENST00000488470.1_Missense_Mutation_p.G190E|TNIK_ENST00000369326.5_Missense_Mutation_p.G190E|TNIK_ENST00000357327.5_Missense_Mutation_p.G190E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	190	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTAGGGAGTTCCAATGAAAGT	0.408000													22	19					0	0	0.002780	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058381	79058381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:79058381G>A	ENST00000388820.4	-	19	4082	c.3872C>T	c.(3871-3873)tCt>tTt	p.S1291F		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1291					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGAAGGAGAGAAGCCACCCC	0.652000													7	13					0	0	0.001855	0	0
RP11-464F9.1	0	broad.mit.edu	37	10	75488146	75488146	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:75488146G>A	ENST00000399449.3	-	0	227				RP11-574K11.28_ENST00000580790.1_RNA|BMS1P4_ENST00000584747.1_RNA																							CCTGTGAAAGGATCGAGCCAT	0.448000													15	19					0	0	0.004007	0	0
SCAMP5	192683	broad.mit.edu	37	15	75311250	75311250	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:75311250G>A	ENST00000361900.6	+	8	841	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	SCAMP5_ENST00000562212.1_Missense_Mutation_p.A220T|SCAMP5_ENST00000545456.1_Missense_Mutation_p.A141T|SCAMP5_ENST00000425597.3_Missense_Mutation_p.A212T|SCAMP5_ENST00000568081.1_Missense_Mutation_p.A145T	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	212					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CATGGGGGCAGCCCAGGGTGC	0.587000													23	17					0	0	0.002780	0	0
A2ML1	144568	broad.mit.edu	37	12	9004564	9004564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:9004564C>T	ENST00000299698.7	+	19	2599	c.2419C>T	c.(2419-2421)Cgt>Tgt	p.R807C	A2ML1_ENST00000539547.1_Missense_Mutation_p.R316C	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	651						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						GGAATCCTTTCGTCTTACTGC	0.507000													49	89					0	0	0.003610	0	0
UBR1	197131	broad.mit.edu	37	15	43339380	43339380	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:43339380G>A	ENST00000290650.4	-	14	1725	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	UBR1_ENST00000382177.2_Silent_p.F549F	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	549					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCACTCTTGGAACATGAGTA	0.363000													64	70					0	0	0.003610	0	0
KIAA1199	57214	broad.mit.edu	37	15	81235313	81235313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:81235313G>A	ENST00000394685.3	+	28	4146	c.3727G>A	c.(3727-3729)Gag>Aag	p.E1243K	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.E1243K|KIAA1199_ENST00000220244.3_Missense_Mutation_p.E1243K			Q8WUJ3	K1199_HUMAN	KIAA1199	1243										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCCCAGTTCGGAGGATGGCAT	0.597000													65	95					0	0	0.003610	0	0
HDAC9	9734	broad.mit.edu	37	7	19015472	19015472	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:19015472C>T	ENST00000406451.3	+	25	3207	c.3057C>T	c.(3055-3057)ggC>ggT	p.G1019G	HDAC9_ENST00000441542.2_Silent_p.G1022G|HDAC9_ENST00000401921.1_Silent_p.G978G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	0					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGCCAAGGGGCTGTGCTCTGG	0.483000													14	33					0	0	0.001855	0	0
PCDHA9	9752	broad.mit.edu	37	5	140362110	140362110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140362110C>T	ENST00000532602.1	+	3	3537	c.2504C>T	c.(2503-2505)cCt>cTt	p.P835L	PCDHA7_ENST00000525929.1_Missense_Mutation_p.P822L|PCDHA12_ENST00000398631.2_Missense_Mutation_p.P826L|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P571L|PCDHA3_ENST00000522353.2_Missense_Mutation_p.P835L|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P835L|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.P892L|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P821L|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P832L|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P570L|PCDHA11_ENST00000398640.2_Missense_Mutation_p.P834L|PCDHA8_ENST00000531613.1_Missense_Mutation_p.P835L|PCDHA4_ENST00000530339.1_Missense_Mutation_p.P832L|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.P848L|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P571L|PCDHA1_ENST00000504120.2_Missense_Mutation_p.P835L|PCDHA5_ENST00000529859.1_Missense_Mutation_p.P821L|PCDHA6_ENST00000529310.1_Missense_Mutation_p.P835L|PCDHA10_ENST00000307360.5_Missense_Mutation_p.P833L|PCDHA13_ENST00000289272.2_Missense_Mutation_p.P835L|PCDHA2_ENST00000526136.1_Missense_Mutation_p.P833L	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGAGGGCCTGATCAGCAG	0.493000													20	10					0	0	0.003954	0	0
GNA15	2769	broad.mit.edu	37	19	3155824	3155824	+	Silent	SNP	C	C	T	rs140382547		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3155824C>T	ENST00000262958.3	+	5	876	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	206					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CCTGTAGGATCGTGGACGTCG	0.557000													15	35					0	0	0.004007	0	0
ALPK2	115701	broad.mit.edu	37	18	56202134	56202134	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:56202134T>G	ENST00000361673.3	-	5	5498	c.5285A>C	c.(5284-5286)gAa>gCa	p.E1762A		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1762							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TAATGATGTTTCGAGTTTGGG	0.398000													40	51					0	0	0.001706	0	0
CHD2	1106	broad.mit.edu	37	15	93567810	93567810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:93567810C>T	ENST00000394196.4	+	39	6430	c.5362C>T	c.(5362-5364)Cgc>Tgc	p.R1788C		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1788					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTCAGATCCTCGCTCACCCCC	0.502000													17	23					0	0	0.000958	0	0
YBX1	4904	broad.mit.edu	37	1	43166585	43166585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43166585C>T	ENST00000321358.7	+	7	1013	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	292					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGCAGACGCCCAGAAAACCC	0.542000													10	52					0	0	0.000673	0	0
VARS2	57176	broad.mit.edu	37	6	30892178	30892178	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:30892178C>T	ENST00000321897.5	+	25	3146	c.2514C>T	c.(2512-2514)ccC>ccT	p.P838P	VARS2_ENST00000416670.2_Silent_p.P838P|VARS2_ENST00000541562.1_Silent_p.P868P|VARS2_ENST00000542001.1_Silent_p.P698P|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	838					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						CCCTGGGGCCCCCTCAGGTCC	0.697000													12	17					0	0	0.002450	0	0
RHOD	29984	broad.mit.edu	37	11	66834276	66834276	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:66834276C>T	ENST00000308831.2	+	3	373	c.288C>T	c.(286-288)ttC>ttT	p.F96F	RHOD_ENST00000533360.1_Silent_p.F96F|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	96					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TGCTTTGCTTCGATGTCACCA	0.607000													32	47					0	0	0.003755	0	0
ANXA2	302	broad.mit.edu	37	15	60656652	60656652	+	Silent	SNP	G	G	A	rs140871735	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:60656652G>A	ENST00000396024.3	-	5	378	c.219C>T	c.(217-219)ttC>ttT	p.F73F	ANXA2_ENST00000451270.2_Silent_p.F73F|ANXA2_ENST00000421017.2_Silent_p.F73F|ANXA2_ENST00000557937.1_5'UTR|ANXA2_ENST00000332680.4_Silent_p.F91F	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	73					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TCTGGTAGGCGAAGGCAATAT	0.423000													18	32					0	0	0.000958	0	0
COL1A1	1277	broad.mit.edu	37	17	48272987	48272987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48272987G>A	ENST00000225964.5	-	17	1214	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	366	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACACCCTGGGGACCTTCAGAG	0.617000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta				OREG0024559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	5					0	0	0.003610	0	0
TIAM1	7074	broad.mit.edu	37	21	32595738	32595738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:32595738G>A	ENST00000286827.3	-	9	2450	c.1979C>T	c.(1978-1980)tCa>tTa	p.S660L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S660L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	660					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATGAAACGATGATACCGAAAA	0.478000													34	48					0	0	0.003271	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356372	40356372	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:40356372G>A	ENST00000310169.2	+	5	1414	c.1275G>A	c.(1273-1275)acG>acA	p.T425T		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	425					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AAGTGCTGACGAGGAATATTG	0.498000													17	24					0	0	0.006122	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760970	62760970	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:62760970C>T	ENST00000336232.2	-	10	1590	c.1455G>A	c.(1453-1455)ggG>ggA	p.G485G	SLC22A8_ENST00000545207.1_Silent_p.G394G|SLC22A8_ENST00000430500.2_Silent_p.G485G|SLC22A8_ENST00000311438.8_Silent_p.G485G|SLC22A8_ENST00000535878.1_Silent_p.G362G	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	485					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CAGCACTGCCCCCGAGGAGGG	0.597000													21	34					0	0	0.002780	0	0
SYT4	6860	broad.mit.edu	37	18	40850610	40850610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:40850610G>A	ENST00000255224.3	-	4	1342	c.974C>T	c.(973-975)cCc>cTc	p.P325L	SYT4_ENST00000590752.1_Missense_Mutation_p.P307L|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	325	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.P325L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTGACATAGGGATCTGCAGT	0.443000													21	25					0	0	0.003330	0	0
ABCA12	26154	broad.mit.edu	37	2	215820071	215820071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:215820071G>A	ENST00000272895.7	-	43	6467	c.6248C>T	c.(6247-6249)tCc>tTc	p.S2083F	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1765F|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2083					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTACATCCAGGAAAATGTTGC	0.438000													13	10					0	0	0.001855	0	0
TEK	7010	broad.mit.edu	37	9	27202880	27202880	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:27202880T>G	ENST00000380036.4	+	13	2414	c.1972T>G	c.(1972-1974)Tct>Gct	p.S658A	TEK_ENST00000406359.4_Missense_Mutation_p.S615A|TEK_ENST00000519097.1_Missense_Mutation_p.S511A	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	658	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AGCTGTGATTTCTTGGACAAT	0.343000													40	20					0	0	0.003610	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786525	121786525	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:121786525A>C	ENST00000261367.7	+	12	3552	c.2124A>C	c.(2122-2124)gaA>gaC	p.E708D	CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E661D|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.E219D|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E295D|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E263D|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E708D|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E601D			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	661					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGAAGAGGGAACTGAAGTTAG	0.493000													11	5					0	0	0.000978	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57985150	57985150	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57985150C>T	ENST00000354947.5	+	1	94	c.78C>T	c.(76-78)tcC>tcT	p.S26S	PIP4K2C_ENST00000540759.2_Silent_p.S26S|PIP4K2C_ENST00000550465.1_Silent_p.S26S|PIP4K2C_ENST00000422156.3_Silent_p.S26S			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	26						cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GCTTCGCCTCCAAGACCAAGA	0.657000													40	46					0	0	0.002522	0	0
SPTA1	6708	broad.mit.edu	37	1	158615042	158615042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158615042C>T	ENST00000368148.3	-	29	4310	c.4130G>A	c.(4129-4131)aGa>aAa	p.R1377K	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1377K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1377					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)					CAAATCATCTCTCTCTAGCTT	0.463000													77	70					0	0	0.003610	0	0
AASDH	132949	broad.mit.edu	37	4	57215960	57215960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:57215960G>A	ENST00000205214.6	-	11	2137	c.1957C>T	c.(1957-1959)Caa>Taa	p.Q653*	AASDH_ENST00000513376.1_Nonsense_Mutation_p.Q553*|AASDH_ENST00000602986.1_Nonsense_Mutation_p.Q500*|AASDH_ENST00000502617.1_Nonsense_Mutation_p.Q653*|AASDH_ENST00000451613.1_Nonsense_Mutation_p.Q653*|AASDH_ENST00000434343.2_Nonsense_Mutation_p.Q168*	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	653					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GCTTCCTCTTGATTAATGTCG	0.398000													69	105					0	0	0.003610	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713473	70713473	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:70713473G>A	ENST00000530196.1	-	0	1045					NR_003951.1																						ACTTATAAGTGAATTTTTTAT	0.383000													63	12					0	0	0.003610	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887373	9887373	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:9887373C>T	ENST00000306084.6	+	2	1096	c.897C>T	c.(895-897)ctC>ctT	p.L299L	TXNDC2_ENST00000357775.4_Silent_p.L232L|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	299	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGGGTGACCTCCCCAAGTCCC	0.602000													17	44					0	0	0.006122	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54646762	54646762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:54646762C>T	ENST00000230640.5	+	13	1590	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.P345S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	446	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ACATGTACTTCCTCTTTTGAA	0.294000													43	13					0	0	0.003610	0	0
AMPD3	272	broad.mit.edu	37	11	10508849	10508849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:10508849G>A	ENST00000444303.2	+	5	872	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	AMPD3_ENST00000396554.3_Missense_Mutation_p.E302K	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	293					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATGTTAAACGAAATGTCCGA	0.498000													44	70					0	0	0.002522	0	0
ARMC12	221481	broad.mit.edu	37	6	35716457	35716457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:35716457C>T	ENST00000373866.3	+	6	855	c.833C>T	c.(832-834)tCc>tTc	p.S278F	ARMC12_ENST00000288065.2_Missense_Mutation_p.S305F|ARMC12_ENST00000373869.3_Missense_Mutation_p.S268F			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	278							binding										AACGAACAGTCCCTGCATGAA	0.567000													18	31					0	0	0.000958	0	0
LAMA3	3909	broad.mit.edu	37	18	21390430	21390430	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:21390430G>A	ENST00000313654.9	+	13	1945	c.1704G>A	c.(1702-1704)agG>agA	p.R568R	LAMA3_ENST00000399516.3_Silent_p.R568R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	568	Domain V.|Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGTGACAGGTGTCTCTCAG	0.562000													19	31					0	0	0.002299	0	0
TACC2	10579	broad.mit.edu	37	10	123844357	123844357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123844357C>T	ENST00000369005.1	+	4	2682	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	TACC2_ENST00000515603.1_Missense_Mutation_p.P781L|TACC2_ENST00000453444.2_Missense_Mutation_p.P781L|TACC2_ENST00000334433.3_Missense_Mutation_p.P781L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P781L|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	781						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTGCCACATCCCCCCCAGGGG	0.637000													27	41					0	0	0.004656	0	0
SLC17A8	246213	broad.mit.edu	37	12	100796200	100796200	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:100796200G>A	ENST00000323346.5	+	7	1159	c.846G>A	c.(844-846)gaG>gaA	p.E282E	SLC17A8_ENST00000392989.3_Silent_p.E282E	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	282					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TATCCAATGAGGAGAAGACCT	0.408000													15	33					0	0	0.003163	0	0
RPTN	126638	broad.mit.edu	37	1	152129259	152129259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152129259C>T	ENST00000316073.3	-	3	380	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	106	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTGCTCCTTCCTGCCCCCTT	0.517000													59	155					0	0	0.003610	0	0
CNGA1	1259	broad.mit.edu	37	4	47939397	47939397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:47939397C>T	ENST00000402813.3	-	10	1463	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	CNGA1_ENST00000420489.2_Missense_Mutation_p.D372N|CNGA1_ENST00000514170.1_Missense_Mutation_p.D372N|CNGA1_ENST00000544810.1_Missense_Mutation_p.D372N|CNGA1_ENST00000358519.4_Missense_Mutation_p.D372N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	372					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						TACTCAGAATCCCTCACGGGA	0.418000													64	99					0	0	0.003610	0	0
DSG3	1830	broad.mit.edu	37	18	29052340	29052340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:29052340G>A	ENST00000257189.4	+	13	2074	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	664					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGCTCAGAAGGAACAATTCAT	0.458000													20	34					0	0	0.001523	0	0
RRM2B	50484	broad.mit.edu	37	8	103244404	103244404	+	Silent	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:103244404T>C	ENST00000251810.3	-	2	420	c.177A>G	c.(175-177)gcA>gcG	p.A59A	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	59					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	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;0.000728)			AGGAAGCCTGTGCCTGTTTAT	0.423000								Modulation of nucleotide pools					70	50					0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215855735	215855735	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:215855735C>T	ENST00000272895.7	-	24	3534	c.3315G>A	c.(3313-3315)gtG>gtA	p.V1105V	ABCA12_ENST00000389661.4_Silent_p.V787V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1105					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCAGGAGTTCACACCCATCA	0.363000													19	31					0	0	0.002299	0	0
FFAR3	2865	broad.mit.edu	37	19	35850303	35850303	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:35850303C>T	ENST00000327809.4	+	2	712	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L	FFAR3_ENST00000594310.1_Silent_p.L171L	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	171						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GACCTGCTACCTGGAGTTCCG	0.602000													22	27					0	0	0.002780	0	0
TRPM4	54795	broad.mit.edu	37	19	49693490	49693490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:49693490G>A	ENST00000252826.5	+	15	2171	c.2045G>A	c.(2044-2046)gGa>gAa	p.G682E	TRPM4_ENST00000355712.5_Missense_Mutation_p.G328E|TRPM4_ENST00000427978.2_Missense_Mutation_p.G682E	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	682					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AAGTGGTGGGGAGATATGGCC	0.587000													56	88					0	0	0.003610	0	0
TTC40	54777	broad.mit.edu	37	10	134754510	134754510	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:134754510C>A	ENST00000368586.5	-	4	461	c.361G>T	c.(361-363)Gga>Tga	p.G121*	TTC40_ENST00000368585.3_Nonsense_Mutation_p.G121*|TTC40_ENST00000368582.2_Nonsense_Mutation_p.G121*	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTCGGTTCTCCTTTGGCAAAG	0.423000											OREG0020643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	19					3.07112e-06	5.73058e-06	0.000978	1	0
RYR3	6263	broad.mit.edu	37	15	33872249	33872249	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:33872249C>T	ENST00000389232.4	+	13	1411	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	RYR3_ENST00000415757.3_Silent_p.I447I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	447					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGGACTTGATCGCCTACTTCC	0.483000													10	12					0	0	0.000443	0	0
GSDMC	56169	broad.mit.edu	37	8	130789712	130789712	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:130789712T>C	ENST00000276708.4	-	2	1003	c.122A>G	c.(121-123)aAg>aGg	p.K41R		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	41						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						ATCCTTCTTCTTTCGTAATAT	0.393000													27	87					0	0	0.003954	0	0
MSANTD1	345222	broad.mit.edu	37	4	3251199	3251199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:3251199G>A	ENST00000438480.2	+	1	1997	c.250G>A	c.(250-252)Gag>Aag	p.E84K	MSANTD1_ENST00000510580.1_Missense_Mutation_p.E84K|MSANTD1_ENST00000507492.1_Missense_Mutation_p.E71K	NM_001042690.1	NP_001036155.1	Q6ZTZ1	CD044_HUMAN	Myb/SANT-like DNA-binding domain containing 1	84										endometrium(1)|lung(2)	3						CAAGCTCTTCGAGATGACCGG	0.607000													7	19					0	0	0.001984	0	0
OR6Y1	391112	broad.mit.edu	37	1	158516955	158516955	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158516955C>T	ENST00000302617.3	-	1	940	c.941G>A	c.(940-942)gGa>gAa	p.G314E		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGGCCCACTTCCTCTGCAATG	0.458000													23	61					0	0	0.003330	0	0
DHX57	90957	broad.mit.edu	37	2	39074204	39074204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:39074204G>A	ENST00000295373.6	-	11	2302	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	726							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TGATCAACAGGAAATGTACGA	0.348000													16	21					0	0	0.000958	0	0
COMMD9	29099	broad.mit.edu	37	11	36302330	36302330	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:36302330G>T	ENST00000263401.5	-	2	125	c.109C>A	c.(109-111)Ctt>Att	p.L37I	COMMD9_ENST00000452374.2_Intron|COMMD9_ENST00000532705.1_Missense_Mutation_p.L37I	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	37										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TTCAAGCCAAGGGCTGAACTG	0.433000													6	80					0.00198382	0.00368579	0.001984	1	0
TRPC4	7223	broad.mit.edu	37	13	38211199	38211199	+	Silent	SNP	C	C	T	rs149495867		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:38211199C>T	ENST00000379705.3	-	11	3632	c.2775G>A	c.(2773-2775)aaG>aaA	p.K925K	TRPC4_ENST00000355779.2_Silent_p.K784K|TRPC4_ENST00000358477.2_Silent_p.K841K|TRPC4_ENST00000338947.5_Silent_p.K752K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Silent_p.K776K|TRPC4_ENST00000379679.1_Silent_p.K752K|TRPC4_ENST00000447043.1_Silent_p.K784K|TRPC4_ENST00000379681.3_Silent_p.K930K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	925	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GACACACTCTCTTTCCTACCT	0.468000													28	63					0	0	0.001271	0	0
THSD7B	80731	broad.mit.edu	37	2	138320903	138320903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:138320903G>A	ENST00000409968.1	+	16	3429	c.3251G>A	c.(3250-3252)gGa>gAa	p.G1084E	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1056E|THSD7B_ENST00000272643.3_Missense_Mutation_p.G1087E					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)		TGTGGAGGAGGAACACAATCT	0.413000													13	24					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9086617	9086617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9086617G>A	ENST00000397910.4	-	1	5401	c.5198C>T	c.(5197-5199)tCc>tTc	p.S1733F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1733	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S1733Y(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						TTCAAGAGAGGAGGAGAGAGC	0.498000													34	51					0	0	0.002445	0	0
ZNF423	23090	broad.mit.edu	37	16	49764731	49764731	+	Silent	SNP	G	G	A	rs138148545		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:49764731G>A	ENST00000561648.1	-	3	281	c.228C>T	c.(226-228)ttC>ttT	p.F76F	ZNF423_ENST00000562871.1_Silent_p.F16F|ZNF423_ENST00000262383.2_Silent_p.F76F|ZNF423_ENST00000562520.1_Silent_p.F16F|ZNF423_ENST00000563137.2_Silent_p.F16F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	76					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCAGAGACTCGAAGTCCTGCT	0.527000													47	59					0	0	0.003610	0	0
ZNF675	171392	broad.mit.edu	37	19	23837429	23837429	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:23837429T>G	ENST00000359788.4	-	4	474	c.306A>C	c.(304-306)agA>agC	p.R102S	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	102					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTTTTCATATCTTCTCAGTG	0.323000													37	45					0	0	0.003755	0	0
BAK1	578	broad.mit.edu	37	6	33541631	33541631	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33541631C>T	ENST00000374467.3	-	6	833	c.585G>A	c.(583-585)ctG>ctA	p.L195L	BAK1_ENST00000360661.5_Silent_p.L195L|BAK1_ENST00000442998.2_3'UTR	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	195					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity	p.L195L(1)		large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GAACCACACCCAGAACCACCA	0.552000													12	16					0	0	0.001368	0	0
CNGA3	1261	broad.mit.edu	37	2	99013247	99013247	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:99013247C>T	ENST00000393504.1	+	8	2031	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F	CNGA3_ENST00000409937.1_Silent_p.F542F|CNGA3_ENST00000436404.2_Silent_p.F520F|CNGA3_ENST00000272602.2_Silent_p.F538F	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	538					signal transduction|visual perception	integral to membrane	cGMP binding	p.F538L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TCACCCAGTTCGTGGTCCTCA	0.557000													24	57					0	0	0.003330	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798955	57798955	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57798955C>T	ENST00000302622.3	+	1	554	c.531C>T	c.(529-531)gtC>gtT	p.V177V	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GCCCAAATGTCATTGACCATT	0.517000													43	79					0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10404024	10404024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10404024C>T	ENST00000226207.5	-	28	3878	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1262						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						GTCTTAATTTCACTCAGTTGA	0.483000													56	9					0	0	0.003610	0	0
OR4D10	390197	broad.mit.edu	37	11	59245604	59245604	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:59245604G>A	ENST00000530162.1	+	1	759	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGGCAGGAGGAAAGCCATCT	0.547000													33	42					0	0	0.002836	0	0
OR2A2	442361	broad.mit.edu	37	7	143806715	143806715	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143806715C>T	ENST00000408979.2	+	1	109	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CATCACCCTGCTGGGATTCCA	0.527000													52	32					0	0	0.003610	0	0
GLIS3	169792	broad.mit.edu	37	9	3829444	3829444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:3829444G>A	ENST00000324333.10	-	9	2250	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	GLIS3_ENST00000381971.3_Missense_Mutation_p.S841F|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	686					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AATTCTCTGGGAATCGGGGTA	0.532000													20	12					0	0	0.003954	0	0
TRIM58	25893	broad.mit.edu	37	1	248039444	248039444	+	Missense_Mutation	SNP	G	G	A	rs143805378		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248039444G>A	ENST00000366481.3	+	6	1162	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	372	B30.2/SPRY.					intracellular	zinc ion binding	p.E372K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGAAAGGGGGAAACCACGCC	0.562000													38	40					0	0	0.001287	0	0
IRX4	50805	broad.mit.edu	37	5	1879657	1879657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:1879657C>T	ENST00000505790.1	-	5	1153	c.697G>A	c.(697-699)Gag>Aag	p.E233K	IRX4_ENST00000231357.2_Missense_Mutation_p.E233K|IRX4_ENST00000513692.1_Missense_Mutation_p.E233K|IRX4_ENST00000505938.1_5'UTR	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	233					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcccgcgcctcctcctcgccc	0.662000													9	9					0	0	0.004482	0	0
ROBO1	6091	broad.mit.edu	37	3	79639009	79639009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:79639009G>A	ENST00000464233.1	-	2	166	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	18					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GTGATTTGGGGATAAGCTGAG	0.403000													46	83					0	0	0.003610	0	0
ZMYM4	9202	broad.mit.edu	37	1	35881164	35881164	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:35881164C>T	ENST00000314607.6	+	28	4238	c.4158C>T	c.(4156-4158)ttC>ttT	p.F1386F	ZMYM4_ENST00000373297.2_Silent_p.F1297F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1386					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCTTTTCTTCAATACCAAAT	0.443000													37	44					0	0	0.001706	0	0
TRAV22	28661	broad.mit.edu	37	14	22539242	22539242	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22539242G>A	ENST00000390450.3	+	0	235																											TGATTCTCCAGGAGGGAGCCA	0.468000													22	31					0	0	0.002780	0	0
CUBN	8029	broad.mit.edu	37	10	17088080	17088080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:17088080C>T	ENST00000377833.4	-	24	3408	c.3343G>A	c.(3343-3345)Gaa>Aaa	p.E1115K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1115	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.E1115K(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGATTTTTCATAGCCTCCA	0.323000													21	23					0	0	0.004656	0	0
TRPC4	7223	broad.mit.edu	37	13	38213191	38213191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:38213191C>T	ENST00000379705.3	-	10	3054	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.E733K|TRPC4_ENST00000338947.5_Missense_Mutation_p.E560K|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.E668K|TRPC4_ENST00000379679.1_Missense_Mutation_p.E560K|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.E738K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	733	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AAGTTCTCTTCGGTCAGGCCT	0.403000													48	136					0	0	0.003610	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111038	7111038	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7111038G>A	ENST00000306904.5	+	1	874	c.687G>A	c.(685-687)cgG>cgA	p.R229R		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	229	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCGAACCCCGGGGTTTTGCCC	0.697000													6	3					0	0	0.001168	0	0
ASTN1	460	broad.mit.edu	37	1	176905403	176905403	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176905403C>T	ENST00000367654.2	-	15	2518	c.2506_splice	c.e15+1	p.Q835_splice	ASTN1_ENST00000361833.2_Splice_Site_p.Q827_splice|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Splice_Site_p.Q827_splice|ASTN1_ENST00000424564.2_Splice_Site_p.Q827_splice			O14525	ASTN1_HUMAN	astrotactin 1	835					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGTGCTCACCCTGAGAGATGG	0.542000													11	38					0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179629296	179629296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179629296C>T	ENST00000589042.1	-	42	10170	c.9946G>A	c.(9946-9948)Gac>Aac	p.D3316N	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.D3316N|TTN_ENST00000460472.2_Missense_Mutation_p.D3270N|TTN_ENST00000591111.1_Missense_Mutation_p.D3316N|TTN_ENST00000359218.5_Missense_Mutation_p.D3270N|TTN_ENST00000342992.6_Missense_Mutation_p.D3316N|TTN_ENST00000342175.6_Missense_Mutation_p.D3270N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3042	Ig-like 19.						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)			ACACCATAGTCATTCTTGGCT	0.453000													47	64					0	0	0.003610	0	0
GPR98	84059	broad.mit.edu	37	5	89918495	89918495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:89918495G>A	ENST00000405460.2	+	5	631	c.535G>A	c.(535-537)Gga>Aga	p.G179R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	179					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)		GGGAACCTATGGAATGGTCAT	0.373000													3	4					0	0	0.004672	0	0
DMPK	1760	broad.mit.edu	37	19	46278228	46278228	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:46278228G>A	ENST00000600757.1	-	8	1913	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	DMPK_ENST00000291270.4_Missense_Mutation_p.S404F|DMPK_ENST00000458663.2_Missense_Mutation_p.S399F|DMPK_ENST00000447742.2_Missense_Mutation_p.S399F|DMPK_ENST00000595361.1_5'UTR|DMPK_ENST00000354227.5_Missense_Mutation_p.S399F|DMPK_ENST00000343373.4_Missense_Mutation_p.S414F			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	414	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCAGGAGTAGGAGTAGCCCAC	0.622000													11	17					0	0	0.001855	0	0
OR8B2	26595	broad.mit.edu	37	11	124253220	124253220	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124253220G>A	ENST00000375013.2	-	1	38	c.20C>T	c.(19-21)tCc>tTc	p.S7F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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)		AGTCACTAAGGAGTTGTTTCT	0.353000													16	57					0	0	0.001216	0	0
LMO2	4005	broad.mit.edu	37	11	33880941	33880941	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:33880941C>T	ENST00000257818.2	-	6	1474	c.645G>A	c.(643-645)caG>caA	p.Q215Q	LMO2_ENST00000395833.3_Silent_p.Q146Q	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	146					multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CGTAGATGTCCTGTTCGCACA	0.502000			T	TRD@	T-ALL								11	20					0	0	0.002450	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835169	24835169	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:24835169C>T	ENST00000376454.3	+	21	5778	c.5748C>T	c.(5746-5748)atC>atT	p.I1916I	KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376462.1_Silent_p.I1237I|KIAA1217_ENST00000376452.3_Silent_p.I1347I|KIAA1217_ENST00000458595.1_Silent_p.I1322I	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1916					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCAGGACCATCCATACTCCCA	0.517000													25	53					0	0	0.001061	0	0
PES1	23481	broad.mit.edu	37	22	30974830	30974830	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:30974830G>A	ENST00000402281.1	-	16	2251	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	PES1_ENST00000402284.3_Silent_p.I542I|PES1_ENST00000405677.1_Silent_p.I420I|PES1_ENST00000335214.6_Silent_p.I554I|PES1_ENST00000354694.6_Silent_p.I559I			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	559					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TCACCTCTCGGATTTTTCGCC	0.542000													21	29					0	0	0.001523	0	0
ASXL3	80816	broad.mit.edu	37	18	31263382	31263382	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:31263382G>A	ENST00000269197.5	+	8	729	c.729G>A	c.(727-729)tgG>tgA	p.W243*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACTTGAAATGGACCAAAGCTG	0.413000													7	15					0	0	0.003080	0	0
TRIM71	131405	broad.mit.edu	37	3	32932809	32932809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:32932809G>A	ENST00000383763.4	+	4	2176	c.2113G>A	c.(2113-2115)Gat>Aat	p.D705N		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	705					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTACCCTTGGGATGTGGCGGT	0.517000													10	22					0	0	0.000673	0	0
PEAR1	375033	broad.mit.edu	37	1	156880483	156880483	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156880483G>A	ENST00000338302.3	+	16	2124	c.1899G>A	c.(1897-1899)tcG>tcA	p.S633S	PEAR1_ENST00000292357.7_Silent_p.S633S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	633	EGF-like 8.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACCCCTCGAACGGGACCT	0.617000													11	33					0	0	0.001368	0	0
ALS2CL	259173	broad.mit.edu	37	3	46724752	46724752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46724752G>A	ENST00000318962.4	-	10	1060	c.977C>T	c.(976-978)cCc>cTc	p.P326L	ALS2CL_ENST00000415953.1_Missense_Mutation_p.P326L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	326					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCCCAGCACGGGGAAGTCCTT	0.662000													4	6					0	0	0.000248	0	0
ATL1	51062	broad.mit.edu	37	14	51095121	51095121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:51095121G>A	ENST00000441560.2	+	13	1973	c.1492G>A	c.(1492-1494)Gga>Aga	p.G498R	ATL1_ENST00000358385.6_Missense_Mutation_p.G498R|ATL1_ENST00000357032.3_Missense_Mutation_p.G498R|ATL1_ENST00000354525.4_Missense_Mutation_p.G498R	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	498	Sufficient for membrane association.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCGGTACTCTGGAGAATACCG	0.463000													18	26					0	0	0.004990	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163062	141163062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:141163062C>T	ENST00000514251.1	+	4	2111	c.1832C>T	c.(1831-1833)tCt>tTt	p.S611F	ZBTB38_ENST00000441582.2_Missense_Mutation_p.S611F|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S612F			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	611					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CCACACAGCTCTGAATTACCA	0.428000													52	45					0	0	0.003610	0	0
SIM1	6492	broad.mit.edu	37	6	100841499	100841499	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:100841499G>A	ENST00000369208.3	-	11	2216	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	SIM1_ENST00000262901.4_Silent_p.F478F			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	478	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCGTTCCCAGGAAGTACCTGC	0.612000													18	26					0	0	0.000958	0	0
IGSF10	285313	broad.mit.edu	37	3	151154827	151154827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151154827C>T	ENST00000282466.3	-	6	7521	c.7522G>A	c.(7522-7524)Gct>Act	p.A2508T	MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2508	Ig-like C2-type 11.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTATTTTGAGCCTTACAGATA	0.408000													48	69					0	0	0.003610	0	0
ADCY7	113	broad.mit.edu	37	16	50345624	50345624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:50345624G>A	ENST00000394697.2	+	20	2715	c.2375G>A	c.(2374-2376)tGg>tAg	p.W792*	ADCY7_ENST00000254235.3_Nonsense_Mutation_p.W792*			P51828	ADCY7_HUMAN	adenylate cyclase 7	792					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AGCTGTTCCTGGAAGGACCTG	0.592000													40	83					0	0	0.003610	0	0
KIF11	3832	broad.mit.edu	37	10	94373356	94373356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:94373356C>T	ENST00000260731.3	+	8	1102	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	338	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACAATTTCTCCTGCATCTCT	0.363000													94	160					0	0	0.003610	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583581	145583581	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:145583581C>T	ENST00000532887.1	+	3	1012	c.429C>T	c.(427-429)ttC>ttT	p.F143F	SLC52A2_ENST00000402965.1_Silent_p.F143F|SLC52A2_ENST00000527078.1_Silent_p.F143F|SLC52A2_ENST00000530047.1_Silent_p.F143F|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Silent_p.F55F|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000329994.2_Silent_p.F143F			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	143						integral to plasma membrane	receptor activity|riboflavin transporter activity										CACCTCGCTTCTTACGGTCAT	0.622000													85	80					0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196749421	196749421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:196749421C>T	ENST00000312428.6	-	35	5751	c.5651G>A	c.(5650-5652)cGa>cAa	p.R1884Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1884					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTCGAGTTCGATCTGAAAT	0.353000													60	12					0	0	0.003610	0	0
LHFPL4	375323	broad.mit.edu	37	3	9543970	9543970	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:9543970G>A	ENST00000287585.6	-	4	954	c.669C>T	c.(667-669)tcC>tcT	p.S223S		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	223						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GCCGCAACACGGAGCTTACTG	0.557000													9	10					0	0	0.000673	0	0
KRT74	121391	broad.mit.edu	37	12	52965768	52965768	+	Missense_Mutation	SNP	C	C	T	rs143284700		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52965768C>T	ENST00000549343.1	-	3	745	c.707G>A	c.(706-708)cGg>cAg	p.R236Q	KRT74_ENST00000305620.2_Missense_Mutation_p.R236Q			Q7RTS7	K2C74_HUMAN	keratin 74	236	Coil 1B.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGTCGTGCGCCGGTTAATCTC	0.522000													29	80					0	0	0.003610	0	0
HMHA1	23526	broad.mit.edu	37	19	1068553	1068553	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1068553C>T	ENST00000313093.2	+	2	462	c.231C>T	c.(229-231)ttC>ttT	p.F77F	HMHA1_ENST00000586866.1_Silent_p.F81F|HMHA1_ENST00000539243.2_Silent_p.F93F|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Silent_p.F104F	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	77					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CGGCTGGCTTCCCCCTGTCGG	0.761000													4	10					0	0	0.001984	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394784	233394784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:233394784G>A	ENST00000258229.8	-	5	1058	c.824C>T	c.(823-825)cCg>cTg	p.P275L	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	275						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTCCCCCACGGCTGGAAAGA	0.522000													13	37					0	0	0.001855	0	0
TENM3	55714	broad.mit.edu	37	4	183673091	183673091	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:183673091C>T	ENST00000511685.1	+	20	3891	c.3768C>T	c.(3766-3768)gtC>gtT	p.V1256V	TENM3_ENST00000406950.2_Silent_p.V1256V|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ATGCAGAAGTCGTCGCAGGGA	0.537000													15	22					0	0	0.004007	0	0
IPO9	55705	broad.mit.edu	37	1	201842023	201842023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:201842023C>T	ENST00000361565.4	+	20	2713	c.2644C>T	c.(2644-2646)Cgt>Tgt	p.R882C		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	882					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ACAGGATATCCGTGTGAAGGG	0.522000													23	40					0	0	0.004656	0	0
AXDND1	126859	broad.mit.edu	37	1	179354459	179354459	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:179354459C>T	ENST00000367618.3	+	9	1215	c.828C>T	c.(826-828)gaC>gaT	p.D276D	AXDND1_ENST00000457238.2_Silent_p.D276D|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	276										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCAGTGTGGACTGTGCAGACA	0.353000													44	60					0	0	0.003610	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857582	9857582	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:9857582C>T	ENST00000396573.2	-	14	4128	c.3819G>A	c.(3817-3819)caG>caA	p.Q1273Q	GRIN2A_ENST00000330684.3_Silent_p.Q1273Q|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Silent_p.Q1273Q	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1273					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)	GGGCATTGTTCTGTGCCCAGT	0.512000													26	22					0	0	0.005443	0	0
OGDHL	55753	broad.mit.edu	37	10	50944459	50944459	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:50944459T>G	ENST00000374103.4	-	21	2783	c.2698A>C	c.(2698-2700)Aag>Cag	p.K900Q	OGDHL_ENST00000432695.1_Missense_Mutation_p.K691Q|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.K843Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	900					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CTCCGCTCCTTCACCAGGTCA	0.612000													34	63					0	0	0.004878	0	0
TELO2	9894	broad.mit.edu	37	16	1551718	1551718	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1551718C>T	ENST00000262319.6	+	11	1695	c.1416C>T	c.(1414-1416)atC>atT	p.I472I	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	472						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCGCAGAGATCGTGGATGGCG	0.657000													12	27					0	0	0.001368	0	0
LRP1B	53353	broad.mit.edu	37	2	141607715	141607715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141607715C>T	ENST00000389484.3	-	29	5866	c.4895G>A	c.(4894-4896)cGa>cAa	p.R1632Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1632					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATAAAAGCTCGTTTAATGGT	0.333000										TSP Lung(27;0.18)			35	54					0	0	0.004878	0	0
GPR98	84059	broad.mit.edu	37	5	90136578	90136578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:90136578C>T	ENST00000405460.2	+	78	16891	c.16795C>T	c.(16795-16797)Ctt>Ttt	p.L5599F	GPR98_ENST00000425867.2_Missense_Mutation_p.L1260F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5599					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)		CCAGATTGTCCTTTTTGACCC	0.458000													50	27					0	0	0.003610	0	0
NMI	9111	broad.mit.edu	37	2	152138507	152138507	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152138507G>A	ENST00000243346.5	-	3	602	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	44					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		CAAGCTTTTGGATCTCCTTCT	0.318000													27	48					0	0	0.001786	0	0
PAX2	5076	broad.mit.edu	37	10	102566350	102566350	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:102566350C>T	ENST00000370296.2	+	7	1399	c.849C>T	c.(847-849)atC>atT	p.I283I	PAX2_ENST00000428433.1_Silent_p.I283I|PAX2_ENST00000355243.3_Silent_p.I260I|PAX2_ENST00000556085.1_Silent_p.I259I|PAX2_ENST00000361791.3_Silent_p.I260I|PAX2_ENST00000553492.1_3'UTR			Q02962	PAX2_HUMAN	paired box 2	283					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAGAGCACATCAAATCAGAAC	0.522000													53	69					0	0	0.003610	0	0
ENPEP	2028	broad.mit.edu	37	4	111470887	111470887	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:111470887C>T	ENST00000265162.5	+	17	2688	c.2346C>T	c.(2344-2346)ctC>ctT	p.L782L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	782					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CCGTAAATCTCAGGCTTCTGG	0.393000													35	38					0	0	0.005524	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212553	50212553	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:50212553C>T	ENST00000284509.6	-	18	1954	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.D605N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	605					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)		AAGTACTTGTCATCCAGGTCT	0.448000													23	33					0	0	0.002780	0	0
MAP3K5	4217	broad.mit.edu	37	6	136882775	136882775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136882775C>T	ENST00000359015.4	-	28	4243	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K	MAP3K5_ENST00000355845.4_Missense_Mutation_p.E542K	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1295					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACAGGCAATTCAGGAATTTCT	0.363000													10	24					0	0	0.000673	0	0
OR13G1	441933	broad.mit.edu	37	1	247836113	247836113	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247836113C>T	ENST00000359688.2	-	1	252	c.231G>A	c.(229-231)aaG>aaA	p.K77K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCCAGCATCTTCGGTATGA	0.458000													12	33					0	0	0.000978	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414672	105414672	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:105414672G>A	ENST00000333244.5	-	7	7235	c.7116C>T	c.(7114-7116)tcC>tcT	p.S2372S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2372						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCAGGTCAGCGGAAGGGGGCT	0.657000													80	18					0	0	0.003610	0	0
SETD1A	9739	broad.mit.edu	37	16	30990573	30990573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:30990573C>T	ENST00000262519.8	+	14	4152	c.3466C>T	c.(3466-3468)Ccc>Tcc	p.P1156S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1156	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TTCTCCCATCCCCCTCCTGCC	0.711000													13	16					0	0	0.002450	0	0
C4BPA	722	broad.mit.edu	37	1	207300223	207300223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207300223C>T	ENST00000367070.3	+	7	1066	c.872C>T	c.(871-873)cCt>cTt	p.P291L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	291	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AATCCTTCTCCTCCTGCTTGT	0.403000													27	55					0	0	0.002836	0	0
FAM47C	442444	broad.mit.edu	37	X	37029030	37029030	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:37029030G>A	ENST00000358047.3	+	1	2599	c.2547G>A	c.(2545-2547)tcG>tcA	p.S849S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	849										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						GACACACATCGAGAAAACTCC	0.468000													35	6					0	0	0.001485	0	0
ATCAY	85300	broad.mit.edu	37	19	3905569	3905569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3905569G>A	ENST00000450849.2	+	4	741	c.274G>A	c.(274-276)Gat>Aat	p.D92N	ATCAY_ENST00000301260.6_Missense_Mutation_p.D92N|ATCAY_ENST00000398448.3_Missense_Mutation_p.D98N|ATCAY_ENST00000600960.1_Missense_Mutation_p.D92N	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	92					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TGATGACCTGGATATTAACGT	0.537000													40	50					0	0	0.001951	0	0
SCN8A	6334	broad.mit.edu	37	12	52156407	52156407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52156407G>A	ENST00000354534.5	+	15	2669	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	SCN8A_ENST00000545061.1_Missense_Mutation_p.E831K|SCN8A_ENST00000550891.1_Missense_Mutation_p.E831K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	831					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAGTTTAATGGAACTGAGTCT	0.418000													43	65					0	0	0.002222	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110474030	110474030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110474030G>A	ENST00000378402.5	+	48	7380	c.7276G>A	c.(7276-7278)Gga>Aga	p.G2426R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2426					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGTCTCCAAGGAAAGTTTGG	0.368000										HNSCC(38;0.096)			12	19					0	0	0.001368	0	0
CHST15	51363	broad.mit.edu	37	10	125805438	125805438	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:125805438G>A	ENST00000346248.5	-	2	933	c.291C>T	c.(289-291)atC>atT	p.I97I	CHST15_ENST00000435907.1_Silent_p.I97I|CHST15_ENST00000421115.1_Silent_p.I97I	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	97					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CCCCAGAAAGGATGTAAGAAG	0.493000													28	46					0	0	0.001271	0	0
DSG3	1830	broad.mit.edu	37	18	29044075	29044075	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:29044075C>T	ENST00000257189.4	+	9	1084	c.999_splice	c.e9-1	p.A334_splice		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	334	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTCTCCAGGCTCTAGATTAT	0.378000													9	21					0	0	0.000673	0	0
OR6X1	390260	broad.mit.edu	37	11	123624612	123624612	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:123624612G>A	ENST00000327930.2	-	1	641	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTGACCCTGGGATCACAAGGA	0.458000													41	56					0	0	0.001287	0	0
TMC7	79905	broad.mit.edu	37	16	19051611	19051611	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:19051611G>A	ENST00000421369.3	+	9	1408	c.849_splice	c.e9-1	p.E284_splice	TMC7_ENST00000569532.1_Splice_Site_p.E394_splice|TMC7_ENST00000304381.5_Splice_Site_p.E394_splice	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	394						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATCCTCCTAGGAAATCGACAA	0.378000													25	30					0	0	0.001786	0	0
SCN1A	6323	broad.mit.edu	37	2	166896056	166896056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166896056C>T	ENST00000423058.2	-	14	2483	c.2466G>A	c.(2464-2466)atG>atA	p.M822I	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.M794I|SCN1A_ENST00000375405.3_Missense_Mutation_p.M811I|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.M822I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	822						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTAAGGATCCATGGCAATAA	0.358000													12	22					0	0	0.001368	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558775	129558775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:129558775G>A	ENST00000422113.2	-	9	3271	c.2945C>T	c.(2944-2946)tCc>tTc	p.S982F	TMEM132D_ENST00000389441.4_Missense_Mutation_p.S520F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	982						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)		ATCTTGCGAGGAGGCAAAGTT	0.493000													55	62					0	0	0.003610	0	0
DNAH17	8632	broad.mit.edu	37	17	76503584	76503584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:76503584G>A	ENST00000389840.5	-	28	4652	c.4528C>T	c.(4528-4530)Ccg>Tcg	p.P1510S	DNAH17_ENST00000585328.1_Missense_Mutation_p.P1511S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGTCCCCCGGGAGCTGGGTG	0.597000													26	4					0	0	0.004656	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16528313	16528313	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:16528313G>A	ENST00000270747.3	-	14	2246	c.2110C>T	c.(2110-2112)Ccc>Tcc	p.P704S	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	704	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCTGGGGGCTGGAGGGG	0.602000													12	15					0	0	0.002450	0	0
CPXM2	119587	broad.mit.edu	37	10	125557535	125557535	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:125557535C>T	ENST00000241305.3	-	6	1000	c.846G>A	c.(844-846)ggG>ggA	p.G282G	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	282	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TGCAGATGCTCCCATTATCAA	0.552000													21	21					0	0	0.001882	0	0
FMNL2	114793	broad.mit.edu	37	2	153484914	153484914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:153484914G>A	ENST00000288670.9	+	18	2634	c.2267G>A	c.(2266-2268)aGg>aAg	p.R756K	FMNL2_ENST00000475377.2_Missense_Mutation_p.R131K	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	756	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GAGCGGGAAAGGAAGCCTCTG	0.468000													39	54					0	0	0.001485	0	0
RNF217-AS1	7955	broad.mit.edu	37	6	125269104	125269104	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:125269104G>A	ENST00000439075.1	-	0	357					NR_026876.1																						AGCAGATCACGACCCCATATG	0.368000													14	33					0	0	0.004990	0	0
GSAP	54103	broad.mit.edu	37	7	76942809	76942809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:76942809G>A	ENST00000257626.7	-	28	2345	c.2267C>T	c.(2266-2268)cCt>cTt	p.P756L	GSAP_ENST00000441833.2_Missense_Mutation_p.P77L|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2			gamma-secretase activating protein																		TATTACCGGAGGAAGCCGCAC	0.343000													6	27					0	0	0.004482	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39564933	39564933	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39564933C>T	ENST00000432258.1	+	0	347				AC003958.2_ENST00000430006.1_RNA																							TCAGGGACTCCAGCTGGGCCT	0.582000													4	0					0	0	0.000248	0	0
ABCB8	11194	broad.mit.edu	37	7	150733722	150733722	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:150733722C>T	ENST00000358849.4	+	9	1296	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	ABCB8_ENST00000297504.6_Silent_p.S418S|ABCB8_ENST00000356058.4_Silent_p.S438S|ABCB8_ENST00000542328.1_Silent_p.S313S|ABCB8_ENST00000477092.1_Silent_p.S401S|ABCB8_ENST00000477719.1_Silent_p.S401S|ABCB8_ENST00000498578.1_Silent_p.S401S	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	418	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTGGCCTCCCAGACAGTGC	0.632000													16	48					0	0	0.006122	0	0
COLEC12	81035	broad.mit.edu	37	18	333031	333031	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:333031A>T	ENST00000400256.3	-	7	2136	c.1929T>A	c.(1927-1929)gtT>gtA	p.V643V		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	643	C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TGTTTATGAAAACAAGATGTG	0.368000													50	50					0	0	0.003610	0	0
MYH7B	57644	broad.mit.edu	37	20	33586397	33586397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33586397G>A	ENST00000262873.7	+	32	4176	c.4084G>A	c.(4084-4086)Gaa>Aaa	p.E1362K		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1320						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCAAAGCCTGGAAGAGTTGCG	0.637000													18	46					0	0	0.001523	0	0
DNAH10	196385	broad.mit.edu	37	12	124270403	124270403	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124270403G>A	ENST00000409039.3	+	9	1183	c.1158G>A	c.(1156-1158)agG>agA	p.R386R		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	386	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGACGAGAGGATGATTCCGC	0.567000													27	33					0	0	0.001786	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028923	59028923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:59028923G>A	ENST00000594051.1	-	2	598	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	ZBTB45_ENST00000354590.3_Missense_Mutation_p.R40C|ZBTB45_ENST00000600990.1_Missense_Mutation_p.R40C			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	40	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GAAGCTTCACGAATGCGCACA	0.602000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	37					0	0	0.001523	0	0
NKAIN3	286183	broad.mit.edu	37	8	63902730	63902730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:63902730C>T	ENST00000523211.1	+	6	668	c.536C>T	c.(535-537)tCa>tTa	p.S179L	NKAIN3_ENST00000328472.5_Missense_Mutation_p.S179L	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	179						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				ttctcagattcatgtgatctg	0.254000													6	7					0	0	0.003080	0	0
OR10C1	442194	broad.mit.edu	37	6	29408290	29408290	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:29408290C>T	ENST00000444197.2	+	1	1208	c.498C>T	c.(496-498)ccC>ccT	p.P166P	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTCTTTGCCCTTCTGCGGCC	0.592000													27	47					0	0	0.001786	0	0
TIE1	7075	broad.mit.edu	37	1	43786945	43786945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43786945C>T	ENST00000372476.3	+	20	3192	c.3113C>T	c.(3112-3114)tCc>tTc	p.S1038F	TIE1_ENST00000433781.2_Missense_Mutation_p.S683F	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1038	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCAGCTGGTCCTTTGGAGTC	0.567000													38	43					0	0	0.002522	0	0
CKAP2L	150468	broad.mit.edu	37	2	113518340	113518340	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:113518340G>A	ENST00000302450.6	-	3	184	c.104_splice	c.e3-1	p.P36_splice	CKAP2L_ENST00000541405.1_5'UTR|CKAP2L_ENST00000481732.1_5'UTR	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	36						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTTAGATAAGGCCTATAAAAG	0.274000													29	70					0	0	0.002836	0	0
COBLL1	22837	broad.mit.edu	37	2	165550945	165550945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:165550945G>A	ENST00000375458.2	-	11	3178	c.2957C>T	c.(2956-2958)tCa>tTa	p.S986L	COBLL1_ENST00000409184.3_Missense_Mutation_p.S1024L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S1062L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S1024L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S1091L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1062										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGCAAACGGTGAAGGACCAGA	0.478000													20	28					0	0	0.001216	0	0
DDO	8528	broad.mit.edu	37	6	110714218	110714218	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:110714218C>T	ENST00000368924.3	-	5	885	c.870G>A	c.(868-870)gaG>gaA	p.E290E	DDO_ENST00000368923.3_Silent_p.E231E|DDO_ENST00000368925.1_Silent_p.E262E	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	262					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGAGGGAGGGCTCCAGAGCAC	0.582000													47	64					0	0	0.003610	0	0
SUSD4	55061	broad.mit.edu	37	1	223465797	223465797	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:223465797G>A	ENST00000343846.3	-	2	978	c.345C>T	c.(343-345)tcC>tcT	p.S115S	SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000344029.6_Silent_p.S115S|SUSD4_ENST00000366878.4_Silent_p.S115S			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	115	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCACACAGATGGAATTATCAC	0.488000													43	91					0	0	0.003610	0	0
PARD3	56288	broad.mit.edu	37	10	34636976	34636976	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:34636976C>T	ENST00000374789.3	-	15	2460	c.2135G>A	c.(2134-2136)cGa>cAa	p.R712Q	PARD3_ENST00000374788.3_Missense_Mutation_p.R712Q|PARD3_ENST00000374776.1_Missense_Mutation_p.R699Q|PARD3_ENST00000545260.1_Missense_Mutation_p.R655Q|PARD3_ENST00000544292.1_Missense_Mutation_p.R429Q|PARD3_ENST00000374768.1_Missense_Mutation_p.R150Q|PARD3_ENST00000340077.5_Missense_Mutation_p.R712Q|PARD3_ENST00000545693.1_Missense_Mutation_p.R699Q|PARD3_ENST00000374773.1_Missense_Mutation_p.R712Q|PARD3_ENST00000346874.4_Missense_Mutation_p.R712Q|PARD3_ENST00000350537.4_Missense_Mutation_p.R699Q|PARD3_ENST00000374794.3_Missense_Mutation_p.R655Q|PARD3_ENST00000374790.3_Missense_Mutation_p.R655Q	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	712	Interacts with PRKCZ (By similarity).				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGAAATTCTTCGTTCTCTATC	0.507000													16	21					0	0	0.006122	0	0
CNTN5	53942	broad.mit.edu	37	11	100170010	100170010	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100170010C>T	ENST00000524871.1	+	20	2792	c.2502C>T	c.(2500-2502)ttC>ttT	p.F834F	CNTN5_ENST00000528682.1_Silent_p.F834F|CNTN5_ENST00000527185.1_Silent_p.F834F|CNTN5_ENST00000279463.3_Silent_p.F834F|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Silent_p.F760F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	834	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTCCAAATTCATTTATCGAG	0.428000													30	42					0	0	0.001786	0	0
TRPV4	59341	broad.mit.edu	37	12	110234354	110234354	+	Silent	SNP	G	G	A	rs141244183	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:110234354G>A	ENST00000418703.2	-	6	1402	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	TRPV4_ENST00000536838.1_Silent_p.I402I|TRPV4_ENST00000541794.1_Silent_p.I389I|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000261740.2_Silent_p.I436I|TRPV4_ENST00000392719.2_Silent_p.I389I	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	436					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGTACACCAGGATCTCCAGCA	0.627000													10	19					0	0	0.000978	0	0
LYPD6B	130576	broad.mit.edu	37	2	150071133	150071133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:150071133C>T	ENST00000409642.3	+	7	934	c.533C>T	c.(532-534)gCc>gTc	p.A178V	LYPD6B_ENST00000409029.1_Missense_Mutation_p.A154V|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Missense_Mutation_p.A178V|LYPD6B_ENST00000409876.1_Missense_Mutation_p.A154V	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	154						anchored to membrane|plasma membrane		p.A178V(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						GCAGTGTTTGCCGTAATGCAC	0.483000													41	64					0	0	0.002852	0	0
NOX4	50507	broad.mit.edu	37	11	89135619	89135619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:89135619C>T	ENST00000535633.1	-	9	959	c.649G>A	c.(649-651)Gag>Aag	p.E217K	NOX4_ENST00000413594.2_Missense_Mutation_p.E262K|NOX4_ENST00000343727.5_Missense_Mutation_p.E217K|NOX4_ENST00000534731.1_Missense_Mutation_p.E241K|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000542487.1_Missense_Mutation_p.E217K|NOX4_ENST00000532825.1_Missense_Mutation_p.E217K|NOX4_ENST00000528341.1_Missense_Mutation_p.E216K|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.E75K|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527956.1_Missense_Mutation_p.E217K|NOX4_ENST00000263317.4_Missense_Mutation_p.E241K|NOX4_ENST00000424319.1_Missense_Mutation_p.E217K	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	241	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)				GAGAAATACTCTGGTAAGGAA	0.413000													60	92					0	0	0.003610	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647532	92647532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:92647532G>A	ENST00000318445.6	+	4	983	c.769G>A	c.(769-771)Gac>Aac	p.D257N	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.D257N|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	257					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CACTCCGGACGACCCCCGCTG	0.542000													49	88					0	0	0.003610	0	0
CCDC141	285025	broad.mit.edu	37	2	179702243	179702243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179702243C>T	ENST00000420890.2	-	23	3820	c.3703G>A	c.(3703-3705)Gaa>Aaa	p.E1235K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E660K|CCDC141_ENST00000480419.1_5'UTR	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	660							protein binding	p.E1235K(1)|p.E660K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ACAGGCTCTTCCACCTCCATG	0.577000													17	17					0	0	0.006122	0	0
NCMAP	400746	broad.mit.edu	37	1	24932124	24932124	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:24932124G>A	ENST00000374392.2	+	4	261	c.195G>A	c.(193-195)gaG>gaA	p.E65E	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1			noncompact myelin associated protein																		GGGAACTAGAGCCCAAGGGCC	0.592000													11	32					0	0	0.000978	0	0
ZNF235	9310	broad.mit.edu	37	19	44792882	44792882	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:44792882G>A	ENST00000291182.4	-	5	808	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTATTGCTATGAACTTTATCT	0.358000													34	39					0	0	0.002445	0	0
ANO4	121601	broad.mit.edu	37	12	101436176	101436176	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:101436176T>A	ENST00000392979.3	+	11	1340	c.979T>A	c.(979-981)Ttc>Atc	p.F327I	ANO4_ENST00000392977.3_Missense_Mutation_p.F362I|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	362						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CGGCATGCTCTTCCCAGCTGC	0.493000										HNSCC(74;0.22)			21	38					0	0	0.001882	0	0
PDE2A	5138	broad.mit.edu	37	11	72379372	72379372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:72379372C>T	ENST00000444035.2	-	1	13	c.14G>A	c.(13-15)aGg>aAg	p.R5K	PDE2A_ENST00000540345.1_Missense_Mutation_p.R5K|PDE2A_ENST00000334456.5_Intron|PDE2A_ENST00000540380.1_Intron|PDE2A_ENST00000418754.2_Intron			O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ctcctggatcctctgtttctt	0.498000													103	192					0	0	0.003610	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045523	142045523	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142045523C>T	ENST00000390392.3	+	0	162																											CCCCCGCAGTCCCCATGGAAA	0.478000													26	66					0	0	0.005443	0	0
SYNE1	23345	broad.mit.edu	37	6	152771814	152771814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152771814C>T	ENST00000367255.5	-	27	3942	c.3341G>A	c.(3340-3342)aGc>aAc	p.S1114N	SYNE1_ENST00000367253.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1104N|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1114N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1180N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S1121N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1121N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1114					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)		CCTGTAGGTGCTGTCAATGGC	0.522000										HNSCC(10;0.0054)			67	81					0	0	0.003610	0	0
CLEC16A	23274	broad.mit.edu	37	16	11114066	11114066	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:11114066C>T	ENST00000409790.1	+	12	1550	c.1320C>T	c.(1318-1320)atC>atT	p.I440I	CLEC16A_ENST00000409552.3_Silent_p.I422I	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	440								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGATGGTGATCATGGAGCGTA	0.537000													16	37					0	0	0.000958	0	0
PLCB2	5330	broad.mit.edu	37	15	40590442	40590442	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:40590442G>A	ENST00000260402.3	-	11	1386	c.1137C>T	c.(1135-1137)acC>acT	p.T379T	PLCB2_ENST00000557821.1_Silent_p.T379T|PLCB2_ENST00000456256.2_Silent_p.T379T	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	379	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGATGTCTGTGGTCATGGTGA	0.607000													9	13					0	0	0.000978	0	0
RFC1	5981	broad.mit.edu	37	4	39308225	39308225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:39308225G>A	ENST00000381897.1	-	14	2118	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	RFC1_ENST00000349703.2_Missense_Mutation_p.S661F	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	662					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACACACCAGGGAAGCTGTGGT	0.512000													10	17					0	0	0.000978	0	0
TRAV36DV7	28646	broad.mit.edu	37	14	22694915	22694915	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22694915G>A	ENST00000390463.3	+	0	122																											GGTTGTCCACGAGGGAGACAC	0.438000													16	22					0	0	0.001216	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720749	140720749	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140720749C>A	ENST00000394576.2	+	1	2211	c.2211C>A	c.(2209-2211)agC>agA	p.S737R	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGCAGAGCTCGCACTTTG	0.627000													32	11					4.02929e-09	7.53477e-09	0.002096	1	0
CLVS1	157807	broad.mit.edu	37	8	62370915	62370915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:62370915C>T	ENST00000519846.1	+	6	1263	c.791C>T	c.(790-792)cCt>cTt	p.P264L	CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.P264L			Q8IUQ0	CLVS1_HUMAN	clavesin 1	264	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTAATACACCCTGAATTTTTG	0.413000													35	92					0	0	0.002522	0	0
UNC13C	440279	broad.mit.edu	37	15	54793064	54793064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:54793064C>T	ENST00000545554.1	+	21	5189	c.5189C>T	c.(5188-5190)tCt>tTt	p.S1730F	UNC13C_ENST00000537900.1_Missense_Mutation_p.S1728F|UNC13C_ENST00000260323.11_Missense_Mutation_p.S1730F			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1730	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCTCTCTTTTCTTGCTCCGTG	0.428000													37	36					0	0	0.004878	0	0
HSD17B2	3294	broad.mit.edu	37	16	82069189	82069189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:82069189C>T	ENST00000199936.4	+	1	353	c.160C>T	c.(160-162)Cct>Tct	p.P54S		NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	54					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CATCCTGTCCCCTTTTTGGGG	0.512000													8	23					0	0	0.003080	0	0
STOML3	161003	broad.mit.edu	37	13	39544509	39544509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:39544509G>A	ENST00000379631.4	-	5	673	c.329C>T	c.(328-330)tCc>tTc	p.S110F	STOML3_ENST00000423210.1_Missense_Mutation_p.S101F	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	110						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		AGTAGTTACGGAGTCTCTGGT	0.448000													74	47					0	0	0.003610	0	0
PEAR1	375033	broad.mit.edu	37	1	156883066	156883066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156883066C>T	ENST00000338302.3	+	20	2728	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S	PEAR1_ENST00000292357.7_Missense_Mutation_p.P835S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	835	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCCCCACCCCCTAACAAGGT	0.607000													19	51					0	0	0.001882	0	0
MTMR11	10903	broad.mit.edu	37	1	149901688	149901688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:149901688G>A	ENST00000439741.2	-	16	2018	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.R518C|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	590	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGAGCCAACGAGAAGAGACT	0.592000													46	23					0	0	0.003610	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142166	3142166	+	Missense_Mutation	SNP	C	C	T	rs149971053		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3142166C>T	ENST00000252463.2	-	2	470	c.383G>A	c.(382-384)cGa>cAa	p.R128Q	ZSCAN10_ENST00000538082.2_Intron|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	128	Pro-rich.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TGGCTGGGGTCGGGGAGGCTC	0.652000													11	16					0	0	0.001368	0	0
IGSF10	285313	broad.mit.edu	37	3	151164707	151164707	+	Missense_Mutation	SNP	C	C	T	rs35114212	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151164707C>T	ENST00000282466.3	-	4	3061	c.3062G>A	c.(3061-3063)cGg>cAg	p.R1021Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1021					cell differentiation|multicellular organismal development|ossification	extracellular region		p.R1021Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGATAATCCGCCCCCTTCC	0.473000													34	48					0	0	0.002836	0	0
MMP13	4322	broad.mit.edu	37	11	102826022	102826022	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:102826022G>A	ENST00000260302.3	-	2	349	c.321C>T	c.(319-321)ttC>ttT	p.F107F	MMP13_ENST00000340273.4_Silent_p.F107F	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	107					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAGTTCGAGGGAAAACATTGT	0.378000													36	33					0	0	0.005524	0	0
TNR	7143	broad.mit.edu	37	1	175375419	175375419	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:175375419C>T	ENST00000367674.1	-	3	1140	c.432G>A	c.(430-432)ctG>ctA	p.L144L	TNR_ENST00000263525.2_Silent_p.L144L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	144					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)					CCTCCCTCTCCAGCATCTCGA	0.597000													49	32					0	0	0.003610	0	0
CYP2C18	1562	broad.mit.edu	37	10	96443702	96443702	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96443702C>T	ENST00000285979.6	+	1	325	c.126C>T	c.(124-126)atC>atT	p.I42I	CYP2C18_ENST00000339022.5_Silent_p.I42I	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTGGAAATATCCTGCAGTTAG	0.448000													17	28					0	0	0.004990	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537588	54537588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:54537588G>A	ENST00000474759.1	+	5	499	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E151K|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E57K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E151K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	151						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCTGGGAAAGGAATTCATCTT	0.373000													34	65					0	0	0.002836	0	0
TMEM144	55314	broad.mit.edu	37	4	159165493	159165493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:159165493G>A	ENST00000296529.6	+	12	1466	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	316						integral to membrane		p.E316*(1)		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)		CATGTTTAAGGAAATAAAGGT	0.413000													21	29					0	0	0.001786	0	0
MNT	4335	broad.mit.edu	37	17	2290863	2290863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:2290863G>A	ENST00000174618.4	-	6	1486	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S	MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	361					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		AGCAGCTCCGGCTGGGGACGA	0.677000													128	18					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179454202	179454202	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179454202C>T	ENST00000589042.1	-	304	62474	c.62250G>A	c.(62248-62250)ggG>ggA	p.G20750G	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.G11685G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G19109G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.G11810G|TTN_ENST00000342992.6_Silent_p.G18182G|TTN_ENST00000342175.6_Silent_p.G11877G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19109	Fibronectin type-III 50.						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)			AGTCACTTTCCCCACCTTCAT	0.398000													26	29					0	0	0.003330	0	0
CD86	942	broad.mit.edu	37	3	121825157	121825157	+	Silent	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:121825157T>A	ENST00000330540.2	+	4	629	c.513T>A	c.(511-513)gtT>gtA	p.V171V	CD86_ENST00000469710.1_Silent_p.V89V|CD86_ENST00000393627.2_Silent_p.V165V|CD86_ENST00000493101.1_Silent_p.V59V|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	171	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AGATGAGTGTTTTGCTAAGAA	0.363000													23	31					0	0	0.002780	0	0
KLHL1	57626	broad.mit.edu	37	13	70514274	70514274	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:70514274G>A	ENST00000377844.4	-	4	1671	c.912C>T	c.(910-912)ttC>ttT	p.F304F	KLHL1_ENST00000545028.1_Silent_p.F111F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	304					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCTTCATGAGGAAGTGGCAGC	0.478000													15	7					0	0	0.004990	0	0
LIFR	3977	broad.mit.edu	37	5	38481702	38481702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:38481702C>T	ENST00000263409.4	-	20	3451	c.3289G>A	c.(3289-3291)Gat>Aat	p.D1097N	LIFR_ENST00000453190.2_Missense_Mutation_p.D1097N	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1097					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CACTGTTAATCGTTTGGTTTG	0.423000			T	PLAG1	salivary adenoma								45	62					0	0	0.003610	0	0
STEAP4	79689	broad.mit.edu	37	7	87912293	87912293	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:87912293A>T	ENST00000380079.4	-	3	748	c.647T>A	c.(646-648)tTc>tAc	p.F216Y	AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.F216Y|STEAP4_ENST00000301959.5_Intron	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	216					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AACACAATAGAAAAACAAGAA	0.373000													22	43					0	0	0.001523	0	0
ABCA9	10350	broad.mit.edu	37	17	67017883	67017883	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:67017883C>T	ENST00000340001.4	-	18	2612	c.2401_splice	c.e18+1	p.D801_splice	ABCA9_ENST00000453985.2_Splice_Site_p.D801_splice|ABCA9_ENST00000370732.2_Splice_Site_p.D801_splice	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	801					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					tttttcttACCTGATTCATCA	0.328000													65	11					0	0	0.003610	0	0
ZRANB3	84083	broad.mit.edu	37	2	135988470	135988470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:135988470G>A	ENST00000401392.1	-	13	1779	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Nonsense_Mutation_p.R523*|ZRANB3_ENST00000264159.6_Nonsense_Mutation_p.R523*			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	523						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AAAAATGATCGAATATCATGC	0.353000													18	34					0	0	0.000958	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027937	92027937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92027937C>T	ENST00000265742.3	+	20	3320	c.2944C>T	c.(2944-2946)Cct>Tct	p.P982S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	982							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGACATGAACCCTCAGAGTAT	0.488000													50	36					0	0	0.003610	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945743	16945743	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:16945743G>A	ENST00000412962.1	-	0	1776																											CAGACATGCAGCCCTGGAAAA	0.592000													6	36					0	0	0.003080	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069408	29069408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:29069408C>T	ENST00000373812.3	+	4	988	c.626C>T	c.(625-627)tCt>tTt	p.S209F	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.S209F|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S159F	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	209					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGTAGGTTCTGCTGTTGGT	0.473000													30	36					0	0	0.001271	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055770	72055770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:72055770C>T	ENST00000555818.1	+	2	1529	c.1181C>T	c.(1180-1182)tCc>tTc	p.S394F	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S394F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S394F	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	394					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GACCTGAATTCCAAAGGAAGC	0.517000													53	6					0	0	0.003610	0	0
PRG4	10216	broad.mit.edu	37	1	186274013	186274013	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:186274013A>G	ENST00000445192.2	+	6	602	c.557A>G	c.(556-558)aAa>aGa	p.K186R	PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K145R|PRG4_ENST00000367484.3_Missense_Mutation_p.K145R|PRG4_ENST00000367486.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	186	Ser-rich.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AAGTCTTCCAAAAATTCAGCT	0.333000													41	41					0	0	0.002852	0	0
CR1L	1379	broad.mit.edu	37	1	207851615	207851615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207851615C>T	ENST00000508064.2	+	3	410	c.350C>T	c.(349-351)tCc>tTc	p.S117F	CR1L_ENST00000530905.1_3'UTR	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	117	Sushi 2.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGTTCAGATCCCAAATTAAA	0.413000													29	78					0	0	0.001271	0	0
FAT3	120114	broad.mit.edu	37	11	92086077	92086077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:92086077C>T	ENST00000298047.6	+	1	816	c.799C>T	c.(799-801)Cat>Tat	p.H267Y	FAT3_ENST00000541502.1_Missense_Mutation_p.H267Y|FAT3_ENST00000409404.2_Missense_Mutation_p.H267Y|FAT3_ENST00000525166.1_Missense_Mutation_p.H117Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	267	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.H267N(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAACAATCCATGTAGTCAC	0.443000										TCGA Ovarian(4;0.039)			170	288					0	0	0.003610	0	0
CEP164	22897	broad.mit.edu	37	11	117279710	117279710	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117279710C>T	ENST00000278935.3	+	29	3861	c.3714C>T	c.(3712-3714)tcC>tcT	p.S1238S	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1238					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AATCTTTTTCCCCGCCTCACC	0.567000													10	14					0	0	0.000443	0	0
SF3B3	23450	broad.mit.edu	37	16	70605710	70605710	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70605710C>T	ENST00000302516.5	+	26	3859	c.3648C>T	c.(3646-3648)gcC>gcT	p.A1216A		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1216					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CCCGCTACGCCTTCTGAGCCC	0.562000													10	27					0	0	0.000978	0	0
MARCKS	4082	broad.mit.edu	37	6	114179007	114179007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:114179007C>T	ENST00000368635.4	+	1	467	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	29					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		TCGTCGCCTTCCAAAGCGAAC	0.587000													7	8					0	0	0.003080	0	0
UPK1B	7348	broad.mit.edu	37	3	118906807	118906807	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:118906807G>A	ENST00000264234.3	+	3	404	c.255G>A	c.(253-255)agG>agA	p.R85R	UPK1B_ENST00000460625.1_Silent_p.R85R|UPK1B_ENST00000497685.1_Silent_p.R5R	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	85					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		AGTCCAGCAGGAAAATTCTTC	0.468000													20	40					0	0	0.002780	0	0
LAMA5	3911	broad.mit.edu	37	20	60890244	60890244	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:60890244G>A	ENST00000252999.3	-	59	7953	c.7887C>T	c.(7885-7887)atC>atT	p.I2629I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2629	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCATGTGCGATCTTCTTGC	0.642000													10	28					0	0	0.002450	0	0
ZNF248	57209	broad.mit.edu	37	10	38121875	38121875	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:38121875G>A	ENST00000395867.3	-	6	958	c.408C>T	c.(406-408)ccC>ccT	p.P136P	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Silent_p.P136P	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ATATTTTATAGGGATAATTTC	0.318000													30	45					0	0	0.001061	0	0
SYCP1	6847	broad.mit.edu	37	1	115453027	115453027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:115453027G>A	ENST00000369522.3	+	17	1570	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	SYCP1_ENST00000369518.1_Missense_Mutation_p.E444K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	444					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		GGGAGAAAAGGAAACACTTTT	0.338000													30	46					0	0	0.001512	0	0
MAG	4099	broad.mit.edu	37	19	35801493	35801493	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:35801493C>T	ENST00000361922.4	+	9	1713	c.1563C>T	c.(1561-1563)gtC>gtT	p.V521V	MAG_ENST00000392213.3_Silent_p.V521V|MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Silent_p.V496V	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	521					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCGCCGTGGTCGCCTTTGCCA	0.592000													21	29					0	0	0.001512	0	0
MTUS2	23281	broad.mit.edu	37	13	30077312	30077312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:30077312C>T	ENST00000431530.3	+	14	4167	c.4109C>T	c.(4108-4110)tCt>tTt	p.S1370F	MTUS2_ENST00000380808.2_Missense_Mutation_p.S339F|MTUS2_ENST00000542829.1_Missense_Mutation_p.S249F	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1360						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGGCCCTCCTCTCCGGCCAGA	0.642000													10	23					0	0	0.000978	0	0
RFX6	222546	broad.mit.edu	37	6	117232120	117232120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117232120C>T	ENST00000332958.2	+	7	711	c.695C>T	c.(694-696)tCg>tTg	p.S232L	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	232					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CGTAAATATTCGCTTAGCTCA	0.343000													31	57					0	0	0.004289	0	0
TNIP3	79931	broad.mit.edu	37	4	122059826	122059826	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:122059826C>A	ENST00000454328.1	-	12	1126	c.899G>T	c.(898-900)tGg>tTg	p.W300L	TNIP3_ENST00000507879.1_Intron|TNIP3_ENST00000509841.1_Intron|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000057513.3_Missense_Mutation_p.W300L			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	300										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGAGCATACCACTGATAGTC	0.393000													36	46					3.33635e-10	6.2439e-10	0.002852	1	0
OR10A6	390093	broad.mit.edu	37	11	7949824	7949824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:7949824G>A	ENST00000309838.2	-	1	385	c.386C>T	c.(385-387)cCt>cTt	p.P129L		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTAGTTGAGAGGATGGCAAAT	0.368000													22	38					0	0	0.002299	0	0
ZNF446	55663	broad.mit.edu	37	19	58991593	58991593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:58991593G>A	ENST00000594369.1	+	7	1234	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	ZNF446_ENST00000335841.4_Silent_p.R256R|ZNF446_ENST00000596341.1_Intron	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	285	Pro-rich.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCGCCCCAGGGCCCAGGGCC	0.716000													8	10					0	0	0.004482	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971489	101971489	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:101971489C>T	ENST00000543253.1	+	5	2611	c.1692C>T	c.(1690-1692)gtC>gtT	p.V564V	GPRASP2_ENST00000332262.5_Silent_p.V564V|GPRASP2_ENST00000535209.1_Silent_p.V564V	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						ACCGGTCAGTCCGGGAAATTC	0.493000													37	8					0	0	0.004878	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590675	136590675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136590675C>T	ENST00000531224.1	-	9	2371	c.2119G>A	c.(2119-2121)Gaa>Aaa	p.E707K	BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E705K|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E705K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E705K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.E534K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E707K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	707					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTCCCCGTTCTTTACTTCTT	0.388000													12	67					0	0	0.003163	0	0
EIF4G3	8672	broad.mit.edu	37	1	21329214	21329214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:21329214G>A	ENST00000602326.1	-	5	605	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C	EIF4G3_ENST00000400422.1_Missense_Mutation_p.R8C|EIF4G3_ENST00000374927.4_Missense_Mutation_p.R8C|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R8C|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R8C|EIF4G3_ENST00000356916.3_Missense_Mutation_p.R8C|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R8C	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	8					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACCGGAGAACGGGTTTGAGGT	0.443000													113	127					0	0	0.003610	0	0
SMPX	23676	broad.mit.edu	37	X	21761903	21761903	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:21761903G>A	ENST00000379494.3	-	3	330	c.97C>T	c.(97-99)Ccc>Tcc	p.P33S	SMPX_ENST00000494525.1_5'UTR	NM_014332.2	NP_055147.1	Q9UHP9	SMPX_HUMAN	small muscle protein, X-linked	33					striated muscle contraction					breast(1)|endometrium(1)	2						TTTCTTCTGGGGGGTTGACCT	0.443000													48	12					0	0	0.003610	0	0
ABCG5	64240	broad.mit.edu	37	2	44064986	44064986	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:44064986G>A	ENST00000405322.1	-	1	905	c.9C>T	c.(7-9)atC>atT	p.I3I	ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000260645.1_Silent_p.I84I			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	84					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGCTTCCTAGGATGCACATGA	0.483000													111	148					0	0	0.003610	0	0
ZNF436	80818	broad.mit.edu	37	1	23688494	23688494	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:23688494G>A	ENST00000314011.4	-	4	1517	c.1381C>T	c.(1381-1383)Ctt>Ttt	p.L461F	ZNF436_ENST00000374608.3_Missense_Mutation_p.L461F|ZNF436_ENST00000374609.1_Missense_Mutation_p.L293F	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TGTTTAATAAGAGCTGAGCTC	0.393000													47	62					0	0	0.003610	0	0
OR51B5	282763	broad.mit.edu	37	11	5364248	5364248	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5364248G>A	ENST00000300773.2	-	1	561	c.507C>T	c.(505-507)tcC>tcT	p.S169S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGAACATGGGAGTGACAAT	0.473000													32	57					0	0	0.003755	0	0
CEACAM19	56971	broad.mit.edu	37	19	45182157	45182157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45182157C>T	ENST00000358777.4	+	4	1088	c.608C>T	c.(607-609)tCc>tTc	p.S203F	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Missense_Mutation_p.S203F	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	203						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				ggatctctgtccatcttgtgc	0.473000													198	235					0	0	0.003610	0	0
TECTA	7007	broad.mit.edu	37	11	121037448	121037448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121037448C>T	ENST00000392793.1	+	18	5816	c.5545C>T	c.(5545-5547)Cag>Tag	p.Q1849*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.Q1849*			O75443	TECTA_HUMAN	tectorin alpha	1849	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TATCTCCTTTCAGATCAACAA	0.507000													37	39					0	0	0.001485	0	0
CES3	23491	broad.mit.edu	37	16	66997264	66997264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:66997264G>A	ENST00000303334.4	+	2	336	c.265G>A	c.(265-267)Gat>Aat	p.D89N	CES3_ENST00000394037.1_Missense_Mutation_p.D89N	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	89						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGGTGTGCGGGATGCCAGCAC	0.632000													21	30					0	0	0.002299	0	0
OR52K1	390036	broad.mit.edu	37	11	4510453	4510453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4510453C>T	ENST00000307632.3	+	1	345	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCCTTCACTCCTTCTCCATC	0.522000													17	23					0	0	0.004007	0	0
DNAH8	1769	broad.mit.edu	37	6	38754603	38754603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38754603C>T	ENST00000359357.3	+	16	2061	c.1807C>T	c.(1807-1809)Ccc>Tcc	p.P603S	DNAH8_ENST00000449981.2_Missense_Mutation_p.P820S|DNAH8_ENST00000441566.1_Missense_Mutation_p.P603S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAATTTCGATCCCAAAATTTT	0.348000													20	23					0	0	0.001216	0	0
AKAP8	10270	broad.mit.edu	37	19	15483978	15483978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15483978G>A	ENST00000269701.2	-	5	605	c.545C>T	c.(544-546)tCc>tTc	p.S182F		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	182					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GCCATCAAGGGAGCCCCGCTC	0.677000													14	13					0	0	0.003163	0	0
KRT25	147183	broad.mit.edu	37	17	38911513	38911513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:38911513C>T	ENST00000312150.4	-	1	71	c.11G>A	c.(10-12)cGa>cAa	p.R4Q		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	4	Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ACTGGAAAGTCGAAGAGACAT	0.488000													22	5					0	0	0.003330	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635690	141635690	+	Missense_Mutation	SNP	G	G	A	rs117965702	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:141635690G>A	ENST00000546910.1	-	5	465	c.269C>T	c.(268-270)tCa>tTa	p.S90L	CLEC5A_ENST00000551012.2_Missense_Mutation_p.S67L|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Missense_Mutation_p.S67L|CLEC5A_ENST00000439991.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	90	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATTCCAAGATGATTCAGAAGT	0.423000													33	60					0	0	0.001786	0	0
PLXNA4	91584	broad.mit.edu	37	7	131849006	131849006	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:131849006G>A	ENST00000359827.3	-	24	5357	c.4395C>T	c.(4393-4395)atC>atT	p.I1465I	PLXNA4_ENST00000321063.4_Silent_p.I1465I			Q9HCM2	PLXA4_HUMAN	plexin A4	1465						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTGCTGCTTGATGGCACAGA	0.577000													27	5					0	0	0.002096	0	0
SDK2	54549	broad.mit.edu	37	17	71420077	71420077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:71420077G>A	ENST00000392650.3	-	13	1738	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	SDK2_ENST00000388726.3_Missense_Mutation_p.R580C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	580	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGGCACTGCGAGAGTCGTTG	0.647000													3	1					0	0	0.004672	0	0
MADD	8567	broad.mit.edu	37	11	47350616	47350616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:47350616C>T	ENST00000342922.4	+	33	5039	c.4682C>T	c.(4681-4683)tCc>tTc	p.S1561F	MADD_ENST00000349238.3_Missense_Mutation_p.S1581F|MADD_ENST00000395336.3_3'UTR|MADD_ENST00000402192.2_Missense_Mutation_p.S1560F|MADD_ENST00000311027.5_Missense_Mutation_p.S1620F|MADD_ENST00000406482.1_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.S1538F|MADD_ENST00000395344.3_Missense_Mutation_p.S1514F|MADD_ENST00000402799.1_Missense_Mutation_p.S1518F	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1620					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.S1620F(2)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATCTGCTACTCCGTATTATGT	0.537000													32	56					0	0	0.001287	0	0
LAMA5	3911	broad.mit.edu	37	20	60888162	60888162	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:60888162G>A	ENST00000252999.3	-	65	9003	c.8937C>T	c.(8935-8937)ctC>ctT	p.L2979L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2979	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGGAAGAAGAGCACCCCGC	0.637000													8	16					0	0	0.004482	0	0
CDHR5	53841	broad.mit.edu	37	11	618097	618097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:618097C>T	ENST00000358353.3	-	15	2297	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	CDHR5_ENST00000349570.7_Missense_Mutation_p.E465K|CDHR5_ENST00000397542.2_Missense_Mutation_p.E659K			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	659					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CGCTTGTCCTCCGAGGGGCCG	0.652000													8	14					0	0	0.003080	0	0
DNMBP	23268	broad.mit.edu	37	10	101640031	101640031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:101640031G>A	ENST00000342239.3	-	16	4248	c.4157C>T	c.(4156-4158)tCc>tTc	p.S1386F	DNMBP_ENST00000324109.4_Missense_Mutation_p.S1362F|DNMBP_ENST00000540316.1_Missense_Mutation_p.S298F|DNMBP_ENST00000543621.1_Missense_Mutation_p.S608F			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1362	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGACTCTGTGGAGGAGTGGCT	0.587000													19	20					0	0	0.006122	0	0
TUSC3	7991	broad.mit.edu	37	8	15508318	15508318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:15508318C>T	ENST00000382020.4	+	3	629	c.421C>T	c.(421-423)Cag>Tag	p.Q141*	TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000503731.1_Nonsense_Mutation_p.Q141*|TUSC3_ENST00000509380.1_Nonsense_Mutation_p.Q141*|TUSC3_ENST00000506802.1_Nonsense_Mutation_p.Q141*	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	141					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		AGACGTTTTTCAGCAGGTAAA	0.358000													78	20					0	0	0.003610	0	0
FAM194A	131831	broad.mit.edu	37	3	150404137	150404137	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:150404137C>T	ENST00000295910.6	-	4	610	c.558G>A	c.(556-558)aaG>aaA	p.K186K	FAM194A_ENST00000491361.1_Silent_p.K40K	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	186										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TAGAGGCTTTCTTCCCTGTGA	0.363000													25	33					0	0	0.004656	0	0
MYO3A	53904	broad.mit.edu	37	10	26414399	26414399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:26414399G>A	ENST00000265944.5	+	19	2142	c.1976G>A	c.(1975-1977)gGa>gAa	p.G659E	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	659	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						GTCACTAGAGGAGAAACAATT	0.423000													37	46					0	0	0.004878	0	0
SF3B3	23450	broad.mit.edu	37	16	70605667	70605667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70605667C>T	ENST00000302516.5	+	26	3816	c.3605C>T	c.(3604-3606)cCc>cTc	p.P1202L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1202					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CGAACCCCACCCGAAGTGTCC	0.512000													20	18					0	0	0.001216	0	0
TRIM60	166655	broad.mit.edu	37	4	165962177	165962177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:165962177G>A	ENST00000512596.1	+	3	1169	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	TRIM60_ENST00000508504.1_Missense_Mutation_p.R318Q|TRIM60_ENST00000341062.5_Missense_Mutation_p.R318Q	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	318	B30.2/SPRY.					intracellular	zinc ion binding	p.R318Q(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAGCTGTGCGATATGAAAGA	0.413000													48	60					0	0	0.003214	0	0
BAI3	577	broad.mit.edu	37	6	69703786	69703786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:69703786G>A	ENST00000370598.1	+	11	2682	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	621					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)				GATGTCTGTGGAGATCCTGAG	0.463000													36	67					0	0	0.003755	0	0
GRIA1	2890	broad.mit.edu	37	5	153144107	153144107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:153144107C>T	ENST00000285900.5	+	12	2280	c.1937C>T	c.(1936-1938)cCc>cTc	p.P646L	GRIA1_ENST00000518142.1_Missense_Mutation_p.P566L|GRIA1_ENST00000448073.4_Missense_Mutation_p.P656L|GRIA1_ENST00000340592.5_Missense_Mutation_p.P646L|GRIA1_ENST00000518783.1_Missense_Mutation_p.P656L|GRIA1_ENST00000521843.2_Missense_Mutation_p.P577L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	646					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGGTGTCTCCCATTGAGAGT	0.527000													7	13					0	0	0.004482	0	0
MC5R	4161	broad.mit.edu	37	18	13826711	13826711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:13826711G>A	ENST00000324750.3	+	1	1169	c.947G>A	c.(946-948)aGg>aAg	p.R316K		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	316					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGTGGTTTCAGGATCGCCTGC	0.493000													35	75					0	0	0.004878	0	0
KIF16B	55614	broad.mit.edu	37	20	16359499	16359499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:16359499G>A	ENST00000354981.2	-	19	3305	c.3148C>T	c.(3148-3150)Cag>Tag	p.Q1050*	KIF16B_ENST00000408042.1_Nonsense_Mutation_p.Q1050*|KIF16B_ENST00000378003.2_Nonsense_Mutation_p.Q276*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.Q1050*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1050	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGGCTAGCCTGGAGCCCTGAC	0.582000													48	32					0	0	0.003610	0	0
SLIT2	9353	broad.mit.edu	37	4	20620554	20620554	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:20620554C>T	ENST00000504154.1	+	37	4764	c.4512C>T	c.(4510-4512)ttC>ttT	p.F1504F	SLIT2_ENST00000503837.1_Silent_p.F1500F|SLIT2_ENST00000503823.1_Silent_p.F1496F|SLIT2_ENST00000273739.5_Silent_p.F1517F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1504	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.F1504F(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AATACTCTTTCGAATGCACTG	0.567000													16	18					0	0	0.004007	0	0
CD163L1	283316	broad.mit.edu	37	12	7531772	7531772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7531772C>T	ENST00000313599.3	-	9	2230	c.2173G>A	c.(2173-2175)Gaa>Aaa	p.E725K	CD163L1_ENST00000544331.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.E735K|CD163L1_ENST00000396630.1_Missense_Mutation_p.E725K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	725	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAAACAACTTCAGCAATGTTC	0.483000													33	44					0	0	0.004289	0	0
CCDC30	728621	broad.mit.edu	37	1	43011224	43011224	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:43011224C>T	ENST00000428554.2	+	11	1542	c.399C>T	c.(397-399)agC>agT	p.S133S	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Silent_p.S133S|CCDC30_ENST00000340612.4_Silent_p.S133S|CCDC30_ENST00000390640.4_Intron			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	133								p.S133S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATTCAAAGCCGAAAGGAAG	0.333000													34	47					0	0	0.003271	0	0
TJP3	27134	broad.mit.edu	37	19	3735567	3735567	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:3735567G>A	ENST00000541714.2	+	9	1452	c.990G>A	c.(988-990)gaG>gaA	p.E330E	TJP3_ENST00000587686.1_Silent_p.E349E|TJP3_ENST00000382008.3_Silent_p.E344E|TJP3_ENST00000262968.9_Silent_p.E363E|TJP3_ENST00000539908.2_Silent_p.E294E|TJP3_ENST00000589378.1_Silent_p.E339E	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	344						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCAGGGAGAGTCCCCGGC	0.552000													47	65					0	0	0.003610	0	0
EIF4G2	1982	broad.mit.edu	37	11	10824772	10824772	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:10824772G>A	ENST00000526148.1	-	10	1393	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	EIF4G2_ENST00000339995.5_Missense_Mutation_p.R295C|EIF4G2_ENST00000525681.1_Missense_Mutation_p.R295C|EIF4G2_ENST00000396525.2_Missense_Mutation_p.R295C	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	295	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGCAGGAAACGAATCCTTGCT	0.333000													21	19					0	0	0.003954	0	0
TMEM259	91304	broad.mit.edu	37	19	1014470	1014470	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:1014470G>A	ENST00000356663.3	-	2	349	c.228C>T	c.(226-228)gcC>gcT	p.A76A	TMEM259_ENST00000333175.5_Silent_p.A76A	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		GCACAAACAGGGCCTAGGGGG	0.682000													12	27					0	0	0.004007	0	0
MMP20	9313	broad.mit.edu	37	11	102479721	102479721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:102479721G>A	ENST00000260228.2	-	5	770	c.758C>T	c.(757-759)cCc>cTc	p.P253L	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	253					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GAATCCATAGGGATTCTTGTA	0.468000													32	52					0	0	0.002836	0	0
LRP1B	53353	broad.mit.edu	37	2	141474303	141474303	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141474303G>A	ENST00000389484.3	-	36	6812	c.5841C>T	c.(5839-5841)atC>atT	p.I1947I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1947					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTGGTAATGATATCTTCTT	0.383000										TSP Lung(27;0.18)			48	56					0	0	0.003610	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735717	55735717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55735717C>T	ENST00000312345.2	-	1	273	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTCCAAATGTCCATGAGCATT	0.383000													33	64					0	0	0.002445	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446626	107446626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:107446626G>A	ENST00000409382.3	-	5	1824	c.1214C>T	c.(1213-1215)cCa>cTa	p.P405L	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.P405L|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P405L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	405					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AATGTAAAATGGCTGATTTGG	0.378000													33	50					0	0	0.004289	0	0
SGK2	10110	broad.mit.edu	37	20	42198101	42198101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:42198101C>T	ENST00000373100.1	+	7	765	c.305C>T	c.(304-306)tCc>tTc	p.S102F	SGK2_ENST00000373077.1_Missense_Mutation_p.S101F|SGK2_ENST00000341458.4_Missense_Mutation_p.S162F|SGK2_ENST00000423407.3_Missense_Mutation_p.S102F|SGK2_ENST00000373092.3_Missense_Mutation_p.S102F|SGK2_ENST00000426287.1_Missense_Mutation_p.S128F			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	162	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTGCGCTACTCCTTCCAGACA	0.617000													40	25					0	0	0.005524	0	0
UTP14A	10813	broad.mit.edu	37	X	129045003	129045003	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:129045003C>T	ENST00000394422.3	+	5	286	c.258C>T	c.(256-258)gtC>gtT	p.V86V	UTP14A_ENST00000425117.2_Silent_p.V86V|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Silent_p.V32V	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	86					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAAGCTGGTCCTTGCAGATC	0.428000													51	6					0	0	0.003610	0	0
R3HDM2	22864	broad.mit.edu	37	12	57660589	57660589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57660589G>A	ENST00000402412.1	-	19	2446	c.2056C>T	c.(2056-2058)Cct>Tct	p.P686S	RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000358907.2_Missense_Mutation_p.P672S|R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000347140.3_Missense_Mutation_p.P672S|R3HDM2_ENST00000393811.2_Missense_Mutation_p.P399S|R3HDM2_ENST00000441731.2_Missense_Mutation_p.P367S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.P399S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.P706S			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	672	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TCAGAGCCAGGGGGTTGCAGA	0.552000													8	17					0	0	0.000673	0	0
TRAV30	28652	broad.mit.edu	37	14	22636806	22636806	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22636806G>A	ENST00000557168.1	+	0	259																											TTCATTTAATGAAAAAAAGCA	0.483000													24	22					0	0	0.004656	0	0
TSHR	7253	broad.mit.edu	37	14	81534600	81534600	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:81534600A>T	ENST00000541158.2	+	4	567	c.245A>T	c.(244-246)tAc>tTc	p.Y82F	TSHR_ENST00000342443.6_Missense_Mutation_p.Y82F|TSHR_ENST00000298171.2_Missense_Mutation_p.Y82F|TSHR_ENST00000554435.1_Missense_Mutation_p.Y82F|TSHR_ENST00000554263.1_Missense_Mutation_p.Y82F			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	82					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ACATTCAGCTACGTATCTATA	0.353000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						39	6					0	0	0.001706	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37505242	37505242	+	Silent	SNP	G	G	A	rs140013037	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:37505242G>A	ENST00000374660.1	+	38	3291	c.3192G>A	c.(3190-3192)aaG>aaA	p.K1064K	ANKRD30A_ENST00000361713.1_Silent_p.K945K|ANKRD30A_ENST00000602533.1_Silent_p.K945K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1067						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						TACTGAAAAAGAAACTGTCAG	0.343000													34	51					0	0	0.002836	0	0
KAT7	11143	broad.mit.edu	37	17	47900603	47900603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:47900603C>T	ENST00000503935.2	+	12	1994	c.958C>T	c.(958-960)Ctt>Ttt	p.L320F	KAT7_ENST00000509773.1_Missense_Mutation_p.L366F|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.L446F|KAT7_ENST00000454930.2_Missense_Mutation_p.L337F|KAT7_ENST00000435742.2_Missense_Mutation_p.L290F|KAT7_ENST00000510819.1_Missense_Mutation_p.L307F|KAT7_ENST00000259021.4_Missense_Mutation_p.L476F			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	476					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										CTCCTGTATCCTTACTATGCC	0.413000													117	11					0	0	0.003610	0	0
BAGE2	85319	broad.mit.edu	37	21	11047521	11047521	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:11047521C>T	ENST00000470054.1	-	0	733									B melanoma antigen family, member 2															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)		TTTCATAATTCGTTGAAGACA	0.348000													27	232					0	0	0.001271	0	0
FAM19A3	284467	broad.mit.edu	37	1	113266593	113266593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:113266593C>T	ENST00000369630.3	+	4	509	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACTGTGCTCGTAGAGACCC	0.612000													26	29					0	0	0.001512	0	0
ACE	1636	broad.mit.edu	37	17	61566318	61566318	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:61566318G>A	ENST00000577647.1	+	6	789	c.744G>A	c.(742-744)ggG>ggA	p.G248G	ACE_ENST00000413513.3_Silent_p.G248G|ACE_ENST00000421982.2_Intron|ACE_ENST00000490216.2_Silent_p.G248G|ACE_ENST00000290863.6_Silent_p.G248G|ACE_ENST00000428043.1_Silent_p.G822G|ACE_ENST00000290866.4_Silent_p.G822G			P12821	ACE_HUMAN	angiotensin I converting enzyme	822	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TAGATGCAGGGGACTCGTGGA	0.572000													35	6					0	0	0.004878	0	0
ADH7	131	broad.mit.edu	37	4	100340194	100340194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:100340194C>T	ENST00000437033.2	-	7	1413	c.910G>A	c.(910-912)Gac>Aac	p.D304N	ADH7_ENST00000209665.4_Missense_Mutation_p.D316N|ADH7_ENST00000482593.1_Missense_Mutation_p.D247N|ADH7_ENST00000476959.1_Missense_Mutation_p.D324N			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	316					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	AACATCGGGTCATAGGTGAGC	0.517000													16	24					0	0	0.006122	0	0
CADM4	199731	broad.mit.edu	37	19	44131342	44131342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:44131342G>A	ENST00000222374.2	-	3	388	c.340C>T	c.(340-342)Cag>Tag	p.Q114*		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	114	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GTGGCAATCTGGTGGTGGGTG	0.592000													37	34					0	0	0.002222	0	0
CCK	885	broad.mit.edu	37	3	42299635	42299635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:42299635C>T	ENST00000396169.2	-	5	1208	c.303G>A	c.(301-303)atG>atA	p.M101I	CCK_ENST00000434608.1_Missense_Mutation_p.M101I|CCK_ENST00000334681.5_Missense_Mutation_p.M101I	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	101					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		GGCCAAAATCCATCCAGCCCA	0.582000													19	27					0	0	0.000958	0	0
KMT2B	9757	broad.mit.edu	37	19	36227621	36227621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36227621C>T	ENST00000222270.7	+	31	7190	c.7190C>T	c.(7189-7191)cCa>cTa	p.P2397L	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P2397L	NM_014727.1	NP_055542.1																					GAAGAGCCTCCATCCCCAGAT	0.582000													13	20					0	0	0.001855	0	0
MYCN	4613	broad.mit.edu	37	2	16086192	16086192	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:16086192G>A	ENST00000281043.3	+	3	1665	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	456					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGTTGCTAAAGAAAATTGAAC	0.438000			A		neuroblastoma								61	79					0	0	0.003610	0	0
GABRG2	2566	broad.mit.edu	37	5	161580307	161580307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:161580307G>A	ENST00000356592.3	+	10	1821	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	GABRG2_ENST00000361925.4_Missense_Mutation_p.R446Q|GABRG2_ENST00000393933.4_Missense_Mutation_p.R351Q|GABRG2_ENST00000414552.2_Missense_Mutation_p.R494Q	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	446					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TCCTATGCTCGGATCTTCTTC	0.458000													82	24					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179399748	179399748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179399748G>A	ENST00000589042.1	-	358	101818	c.101594C>T	c.(101593-101595)tCc>tTc	p.S33865F	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S24800F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S32224F|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24925F|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S31297F|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24992F|TTN-AS1_ENST00000588716.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32224	Ig-like 149.						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)			ATTCAGAATGGAAATTTCCTT	0.348000													32	68					0	0	0.002096	0	0
SORCS3	22986	broad.mit.edu	37	10	106937875	106937875	+	Silent	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:106937875T>A	ENST00000369701.3	+	14	2180	c.1953T>A	c.(1951-1953)gtT>gtA	p.V651V	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	651						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)		TCACTTCGGTTCCTCTCTTTG	0.473000													15	28					0	0	0.006122	0	0
TACC2	10579	broad.mit.edu	37	10	123843897	123843897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123843897C>T	ENST00000369005.1	+	4	2222	c.1882C>T	c.(1882-1884)Ccc>Tcc	p.P628S	TACC2_ENST00000515603.1_Missense_Mutation_p.P628S|TACC2_ENST00000453444.2_Missense_Mutation_p.P628S|TACC2_ENST00000334433.3_Missense_Mutation_p.P628S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P628S|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	628						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGAGACCATCCCAGCTCACA	0.577000													17	20					0	0	0.004007	0	0
NLRP4	147945	broad.mit.edu	37	19	56388524	56388524	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56388524G>A	ENST00000301295.6	+	8	3110	c.2688G>A	c.(2686-2688)gaG>gaA	p.E896E	NLRP4_ENST00000587891.1_Silent_p.E821E|NLRP4_ENST00000346986.5_Silent_p.E840E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	896							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCCGCTTAGAGATTCTTGGGT	0.468000													40	80					0	0	0.002522	0	0
TRANK1	9881	broad.mit.edu	37	3	36875010	36875010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36875010G>A	ENST00000429976.2	-	21	6179	c.5932C>T	c.(5932-5934)Caa>Taa	p.Q1978*	TRANK1_ENST00000301807.6_Nonsense_Mutation_p.Q1428*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.Q1428*			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1978					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGGCCAGTTTGATAGCAGATA	0.537000													9	15					0	0	0.000978	0	0
PKN2	5586	broad.mit.edu	37	1	89290058	89290058	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:89290058T>A	ENST00000370521.3	+	18	2767	c.2408T>A	c.(2407-2409)cTt>cAt	p.L803H	PKN2_ENST00000544045.1_Missense_Mutation_p.L477H|PKN2_ENST00000370505.3_Missense_Mutation_p.L646H|PKN2_ENST00000370513.5_Missense_Mutation_p.L755H	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	803	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GATTTTGGTCTTTGCAAAGAA	0.308000													32	56					0	0	0.002096	0	0
MGLL	11343	broad.mit.edu	37	3	127441400	127441400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:127441400C>T	ENST00000434178.2	-	4	1138	c.242G>A	c.(241-243)gGa>gAa	p.G81E	MGLL_ENST00000453507.2_Missense_Mutation_p.G91E|MGLL_ENST00000398101.3_Missense_Mutation_p.G55E|MGLL_ENST00000398104.1_Missense_Mutation_p.G81E|MGLL_ENST00000265052.5_Missense_Mutation_p.G91E			Q99685	MGLL_HUMAN	monoglyceride lipase	81					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						TTCGCTCTGTCCGTGGCCAAC	0.537000													13	15					0	0	0.004990	0	0
KIF4B	285643	broad.mit.edu	37	5	154393517	154393517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:154393517C>T	ENST00000435029.4	+	1	258	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	33	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			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)			ATGTGCCTTTCCTTCGTGCCC	0.512000													19	7					0	0	0.000958	0	0
COL18A1	80781	broad.mit.edu	37	21	46901891	46901891	+	Silent	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46901891T>A	ENST00000359759.4	+	13	2892	c.2871T>A	c.(2869-2871)ccT>ccA	p.P957P	COL18A1_ENST00000355480.5_Silent_p.P722P|COL18A1_ENST00000400337.2_Silent_p.P542P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	957	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCCAGGCCCTCCGGGAAGAG	0.597000													15	14					0	0	0.001523	0	0
FAM63B	54629	broad.mit.edu	37	15	59063690	59063690	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:59063690G>A	ENST00000559228.1	+	1	178	c.96G>A	c.(94-96)gaG>gaA	p.E32E	FAM63B_ENST00000450403.2_Silent_p.E32E			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	32										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GGCTACAGGAGACCAGGCTCG	0.716000													11	15					0	0	0.001368	0	0
CDH12	1010	broad.mit.edu	37	5	21752007	21752007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:21752007C>T	ENST00000382254.1	-	15	3310	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	CDH12_ENST00000504376.2_Missense_Mutation_p.E742K|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.E702K	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	742					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCACTCCCTTCGTAGGCATAT	0.507000										HNSCC(59;0.17)			38	57					0	0	0.002222	0	0
C3orf20	84077	broad.mit.edu	37	3	14731545	14731545	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14731545T>G	ENST00000253697.3	+	5	1119	c.667T>G	c.(667-669)Tac>Gac	p.Y223D	C3orf20_ENST00000412910.1_Missense_Mutation_p.Y101D|C3orf20_ENST00000435614.1_Missense_Mutation_p.Y101D	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	223						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAACTCGCCTTACCAGCTGAT	0.458000													26	62					0	0	0.001271	0	0
CHD5	26038	broad.mit.edu	37	1	6228297	6228297	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:6228297G>A	ENST00000262450.3	-	2	219	c.120C>T	c.(118-120)ttC>ttT	p.F40F	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	40					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCTCCACAGGGAAAAAGTCAT	0.502000													58	94					0	0	0.003610	0	0
LRIF1	55791	broad.mit.edu	37	1	111494466	111494466	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:111494466G>A	ENST00000369763.4	-	2	1430	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CATATTTTTGGATCGCGTCCC	0.353000													47	65					0	0	0.002852	0	0
TSC2	7249	broad.mit.edu	37	16	2100463	2100463	+	Silent	SNP	C	C	T	rs45460096		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2100463C>T	ENST00000219476.3	+	3	831	c.201C>T	c.(199-201)gtC>gtT	p.V67V	TSC2_ENST00000353929.4_Silent_p.V67V|TSC2_ENST00000382538.6_Silent_p.V18V|TSC2_ENST00000401874.2_Silent_p.V67V|TSC2_ENST00000350773.4_Silent_p.V67V|TSC2_ENST00000568454.1_Silent_p.V78V|TSC2_ENST00000439673.2_Silent_p.V67V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	67	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TTTGTGAAGTCGCAAAAACCA	0.448000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				21	34					0	0	0.002299	0	0
GABRR1	2569	broad.mit.edu	37	6	89926975	89926975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:89926975C>T	ENST00000435811.1	-	1	521	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	GABRR1_ENST00000454853.2_Missense_Mutation_p.E23K|GABRR1_ENST00000369451.3_Intron|GABRR1_ENST00000481493.1_5'UTR	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	23					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|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATTCTGCTTTCAGTGGCCAAA	0.463000													15	21					0	0	0.001216	0	0
USH2A	7399	broad.mit.edu	37	1	215972345	215972345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215972345C>T	ENST00000366943.2	-	50	10248	c.9862G>A	c.(9862-9864)Gat>Aat	p.D3288N	USH2A_ENST00000307340.3_Missense_Mutation_p.D3288N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3288					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)		CCATGGCCATCATGAAGCCTC	0.512000										HNSCC(13;0.011)			48	32					0	0	0.003610	0	0
CLIP2	7461	broad.mit.edu	37	7	73768221	73768221	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:73768221G>A	ENST00000223398.6	+	4	1017	c.690G>A	c.(688-690)acG>acA	p.T230T	CLIP2_ENST00000361545.5_Silent_p.T230T|CLIP2_ENST00000395060.1_Silent_p.T230T	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	230						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TTGGCGGGACGAAGACTGGCG	0.637000													32	47					0	0	0.005524	0	0
PRLR	5618	broad.mit.edu	37	5	35065964	35065964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:35065964C>T	ENST00000382002.5	-	10	1522	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	PRLR_ENST00000342362.5_Missense_Mutation_p.E265K|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.E265K	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	366					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCCTGGGGTTCCTCACACTTT	0.527000													16	26					0	0	0.004990	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153847442	153847442	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:153847442G>A	ENST00000356448.4	+	4	1487	c.1203G>A	c.(1201-1203)caG>caA	p.Q401Q	ARHGEF26_ENST00000465093.1_Silent_p.Q401Q|ARHGEF26_ENST00000465817.1_Silent_p.Q401Q	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	401					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CCAAAGAACAGAAGTCAGATG	0.413000													10	19					0	0	0.000443	0	0
WNT7A	7476	broad.mit.edu	37	3	13916496	13916496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:13916496C>T	ENST00000285018.4	-	2	550	c.246G>A	c.(244-246)tgG>tgA	p.W82*	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	82					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CAGAGCAGTTCCAGCGGCCAT	0.602000													5	29					0	0	0.001984	0	0
MORC1	27136	broad.mit.edu	37	3	108778652	108778652	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108778652C>T	ENST00000232603.5	-	12	1114		c.e12+1		MORC1_ENST00000483760.1_Splice_Site	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTGTGTCTTACCTTTGTTTCT	0.358000													9	21					0	0	0.004482	0	0
C4B	721	broad.mit.edu	37	6	31996586	31996586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:31996586C>T	ENST00000435363.2	+	26	3431	c.3347C>T	c.(3346-3348)tCg>tTg	p.S1116L	C4B_ENST00000425700.2_Missense_Mutation_p.S1116L	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1116					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										GCTGACGGCTCGTTCCAGGAC	0.602000													27	28					0	0	0.001271	0	0
TRAV25	28658	broad.mit.edu	37	14	22580838	22580838	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22580838C>T	ENST00000390454.2	+	0	257																											TGGTGGACATCCCGTTTTTTT	0.423000													21	25					0	0	0.002299	0	0
APOL1	8542	broad.mit.edu	37	22	36661671	36661671	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:36661671C>T	ENST00000319136.4	+	7	1104	c.837C>T	c.(835-837)tcC>tcT	p.S279S	APOL1_ENST00000422706.1_Silent_p.S263S|APOL1_ENST00000397279.4_Silent_p.S263S|APOL1_ENST00000426053.1_Silent_p.S245S|APOL1_ENST00000397278.3_Silent_p.S263S|APOL1_ENST00000347595.7_Silent_p.S142S	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	263					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AGAACATATCCAACTTTCTTT	0.498000													19	27					0	0	0.000958	0	0
FAM47B	170062	broad.mit.edu	37	X	34962065	34962065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:34962065G>A	ENST00000329357.5	+	1	1153	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	373										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						GACAACCGAGGAACTCACCAA	0.547000													11	2					0	0	0.000673	0	0
LY9	4063	broad.mit.edu	37	1	160784216	160784216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160784216G>A	ENST00000263285.5	+	4	767	c.737G>A	c.(736-738)gGa>gAa	p.G246E	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.G206E|LY9_ENST00000341032.4_Missense_Mutation_p.G246E|LY9_ENST00000368040.1_5'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	246					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCAGATCCAGGAGCCTCCAGA	0.612000													18	58					0	0	0.001523	0	0
HLA-DRB6	3128	broad.mit.edu	37	6	32522616	32522616	+	RNA	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32522616T>C	ENST00000411500.1	-	0	590					NR_001298.1																						CACCGCAGCCTTCTCTTCCTG	0.557000													6	24					0	0	0.004007	0	0
WNT3A	89780	broad.mit.edu	37	1	228238550	228238550	+	Silent	SNP	C	C	T	rs141170201		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:228238550C>T	ENST00000284523.1	+	3	585	c.507C>T	c.(505-507)ttC>ttT	p.F169F	WNT3A_ENST00000366753.2_Silent_p.F169F	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	169					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	p.F169F(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTCGGGAGTTCGCCGACGCCC	0.672000													24	14					0	0	0.003954	0	0
FOXI2	399823	broad.mit.edu	37	10	129536803	129536803	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:129536803C>T	ENST00000388920.4	+	2	570	c.531C>T	c.(529-531)acC>acT	p.T177T		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	177					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	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			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				ATTACTGGACCCTGGACCCCA	0.577000													3	9					0	0	0.000602	0	0
ACSBG2	81616	broad.mit.edu	37	19	6182904	6182904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:6182904G>A	ENST00000588304.1	+	9	1345	c.899G>A	c.(898-900)aGa>aAa	p.R300K	ACSBG2_ENST00000591403.1_Missense_Mutation_p.R350K|ACSBG2_ENST00000588485.1_Missense_Mutation_p.R163K|ACSBG2_ENST00000586696.1_Missense_Mutation_p.R350K|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.R350K			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	350					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGTGGGCAAGAAACATTGGC	0.483000													33	41					0	0	0.003755	0	0
SMYD1	150572	broad.mit.edu	37	2	88405849	88405849	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:88405849G>A	ENST00000419482.2	+	8	1072	c.987G>A	c.(985-987)gtG>gtA	p.V329V	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.V316V	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TCTAGGTTGTGAAATTATGCC	0.502000													16	28					0	0	0.001216	0	0
VCAN	1462	broad.mit.edu	37	5	82818080	82818080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:82818080C>T	ENST00000265077.3	+	7	4520	c.3955C>T	c.(3955-3957)Cac>Tac	p.H1319Y	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.H1319Y|VCAN_ENST00000512590.2_Missense_Mutation_p.H1271Y|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1319	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CACAAAATTTCACCCTGACAT	0.443000													20	14					0	0	0.001523	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30314270	30314270	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:30314270C>A	ENST00000513556.1	+	9	1086	c.1086C>A	c.(1084-1086)ttC>ttA	p.F362L	RPP21_ENST00000433076.2_Missense_Mutation_p.F109L|RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000442966.2_Missense_Mutation_p.F101L|RPP21_ENST00000436442.2_Missense_Mutation_p.F101L|RPP21_ENST00000428040.2_Missense_Mutation_p.F124L	NM_001199119.1	NP_001186048.1	A6ZJ12	A6ZJ12_HUMAN		362						intracellular	zinc ion binding										GCCAACGCTTCCTCAATGATC	0.582000													13	16					5.50884e-06	1.02752e-05	0.001368	1	0
MUC4	4585	broad.mit.edu	37	3	195474187	195474187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:195474187C>T	ENST00000463781.3	-	25	16558	c.16099G>A	c.(16099-16101)Gac>Aac	p.D5367N	MUC4_ENST00000346145.4_Missense_Mutation_p.D1131N|MUC4_ENST00000475231.1_Missense_Mutation_p.D5315N|MUC4_ENST00000349607.4_Missense_Mutation_p.D1080N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2124					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGAACGCGTCGAGTTTCATG	0.637000													7	36					0	0	0.004482	0	0
OR2G3	81469	broad.mit.edu	37	1	247768917	247768917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247768917G>A	ENST00000320002.2	+	1	62	c.30G>A	c.(28-30)atG>atA	p.M10I	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M10I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTTCCCTAATGGATTTCATCC	0.463000													29	55					0	0	0.001512	0	0
EWSR1	2130	broad.mit.edu	37	22	29694761	29694761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:29694761C>T	ENST00000397938.2	+	14	1775	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C	EWSR1_ENST00000414183.2_Missense_Mutation_p.R491C|EWSR1_ENST00000332035.6_Missense_Mutation_p.R430C|EWSR1_ENST00000331029.7_Missense_Mutation_p.R448C|EWSR1_ENST00000406548.1_Missense_Mutation_p.R485C|EWSR1_ENST00000332050.6_Missense_Mutation_p.R413C	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	486	Arg/Gly/Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCCATGGGTCGCATGGGAGG	0.577000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								37	59					0	0	0.003214	0	0
OR6S1	341799	broad.mit.edu	37	14	21109685	21109685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:21109685G>A	ENST00000320704.3	-	1	165	c.166C>T	c.(166-168)Cga>Tga	p.R56*		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GTCTGTAGTCGAGTATCAGCC	0.453000													24	32					0	0	0.002780	0	0
NANOS3	342977	broad.mit.edu	37	19	13988435	13988435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:13988435C>T	ENST00000397555.2	+	2	316	c.316C>T	c.(316-318)Cga>Tga	p.R106*	NANOS3_ENST00000591161.1_Intron|NANOS3_ENST00000339133.5_Nonsense_Mutation_p.R125*|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	106					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CGCCCACACCCGACGCTTCTG	0.657000													7	13					0	0	0.004482	0	0
MIEF1	54471	broad.mit.edu	37	22	39908004	39908004	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:39908004C>T	ENST00000325301.2	+	4	719	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	SMCR7L_ENST00000402881.1_Missense_Mutation_p.P99S|SMCR7L_ENST00000404569.1_Missense_Mutation_p.P99S	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		99						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					GCAGACCCTTCCCACAGACTC	0.592000													24	46					0	0	0.001786	0	0
DOCK8	81704	broad.mit.edu	37	9	439338	439338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:439338G>A	ENST00000432829.2	+	40	5285	c.4969G>A	c.(4969-4971)Gag>Aag	p.E1657K	DOCK8_ENST00000453981.1_Missense_Mutation_p.E1725K|DOCK8_ENST00000382329.1_Missense_Mutation_p.E1192K|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1625K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1725	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.E1657K(1)|p.E1725K(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTACTTCACCGAGAGTGGCCT	0.617000													12	10					0	0	0.003163	0	0
ABCA2	20	broad.mit.edu	37	9	139911795	139911795	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:139911795G>A	ENST00000265662.5	-	18	2553	c.2406C>T	c.(2404-2406)ttC>ttT	p.F802F	ABCA2_ENST00000371605.3_Silent_p.F801F|ABCA2_ENST00000341511.6_Silent_p.F802F			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	801					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)		CAGACACCAGGAAGCTGGGTG	0.672000													21	4					0	0	0.002299	0	0
TNXB	7148	broad.mit.edu	37	6	32012825	32012825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32012825C>T	ENST00000375244.3	-	32	11086	c.10885G>A	c.(10885-10887)Gaa>Aaa	p.E3629K	TNXB_ENST00000375247.2_Missense_Mutation_p.E3627K|TNXB_ENST00000451343.1_Missense_Mutation_p.E58K			P22105	TENX_HUMAN	tenascin XB	3674	Fibronectin type-III 28.				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						CGCTTCCCTTCATGGAGGCCA	0.652000													32	141					0	0	0.001485	0	0
CCDC149	91050	broad.mit.edu	37	4	24833249	24833249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:24833249G>A	ENST00000504487.1	-	9	850	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	CCDC149_ENST00000428116.2_Intron|CCDC149_ENST00000389609.4_Missense_Mutation_p.H282Y|CCDC149_ENST00000502801.1_Intron	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	282										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CTGCATCCATGATCCTCAGAT	0.443000													17	22					0	0	0.006122	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724911	7724911	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:7724911C>T	ENST00000303635.7	+	9	2511	c.2304C>T	c.(2302-2304)tcC>tcT	p.S768S	CAMTA1_ENST00000439411.2_Silent_p.S768S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTGACATCTCCTTCAGCAACC	0.632000			T	WWTR1	epitheliod hemangioendothelioma								68	123					0	0	0.003610	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84564013	84564013	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:84564013C>T	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							TCAGAGGAATCCGTGTGGCAC	0.512000													11	3					0	0	0.001368	0	0
ERBB4	2066	broad.mit.edu	37	2	212652843	212652843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:212652843G>A	ENST00000342788.4	-	4	773	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	ERBB4_ENST00000402597.1_Missense_Mutation_p.L155F|ERBB4_ENST00000436443.1_Missense_Mutation_p.L155F|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	155					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCATAACAAAGGAATTTGTTC	0.353000										TSP Lung(8;0.080)			16	32					0	0	0.004990	0	0
ACAN	176	broad.mit.edu	37	15	89381998	89381998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:89381998C>T	ENST00000439576.2	+	3	549	c.175C>T	c.(175-177)Cct>Tct	p.P59S	ACAN_ENST00000559004.1_Missense_Mutation_p.P59S|ACAN_ENST00000561243.1_Missense_Mutation_p.P59S|ACAN_ENST00000558207.1_Missense_Mutation_p.P59S|ACAN_ENST00000352105.7_Missense_Mutation_p.P59S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	59					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCCCATGCACCCTGTGACCAC	0.622000													13	19					0	0	0.001368	0	0
NYAP2	57624	broad.mit.edu	37	2	226447152	226447152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:226447152C>T	ENST00000272907.6	+	4	1432	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	340	Pro-rich.							p.P340L(1)									CTGGTATTTCCCCCCGCCCCC	0.627000													11	11					0	0	0.000978	0	0
PUM1	9698	broad.mit.edu	37	1	31426706	31426706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:31426706G>A	ENST00000373747.3	-	15	2548	c.2449C>T	c.(2449-2451)Cgt>Tgt	p.R817C	PUM1_ENST00000426105.2_Missense_Mutation_p.R816C|PUM1_ENST00000440538.2_Missense_Mutation_p.R790C|PUM1_ENST00000257075.5_Missense_Mutation_p.R816C|PUM1_ENST00000424085.2_Missense_Mutation_p.R574C|PUM1_ENST00000423018.2_Missense_Mutation_p.R672C|PUM1_ENST00000373742.2_Missense_Mutation_p.R757C|PUM1_ENST00000373741.4_Missense_Mutation_p.R852C	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	816					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TATCGCAAACGAGAGGAAGAG	0.522000													82	84					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179498194	179498194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179498194C>T	ENST00000589042.1	-	232	43116	c.42892G>A	c.(42892-42894)Gaa>Aaa	p.E14298K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E5233K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E12657K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E5358K|TTN_ENST00000342992.6_Missense_Mutation_p.E11730K|TTN_ENST00000342175.6_Missense_Mutation_p.E5425K|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12657	Fibronectin type-III 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E5233K(1)		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)			CACACATATTCGCCTTTATCT	0.428000													37	47					0	0	0.004878	0	0
KANK4	163782	broad.mit.edu	37	1	62740337	62740337	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:62740337C>T	ENST00000371153.4	-	3	817	c.439G>A	c.(439-441)Gat>Aat	p.D147N	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	147										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AGCTCGGCATCCTCTGGCTCA	0.612000													10	22					0	0	0.000443	0	0
WASF3	10810	broad.mit.edu	37	13	27259904	27259904	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:27259904C>T	ENST00000361042.4	+	10	1647	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	WASF3_ENST00000335327.5_Silent_p.I477I			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	477					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGGCCACGATCCTGTCCCGGC	0.612000													21	9					0	0	0.001523	0	0
PTPRC	5788	broad.mit.edu	37	1	198721378	198721378	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:198721378G>A	ENST00000367376.2	+	30	3373	c.3201_splice	c.e30-1	p.E1068_splice	PTPRC_ENST00000442510.2_Splice_Site_p.E1070_splice|PTPRC_ENST00000594404.1_Splice_Site_p.E907_splice|PTPRC_ENST00000352140.3_Splice_Site_p.E1020_splice|PTPRC_ENST00000348564.6_Splice_Site_p.E909_splice	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1068	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTTTATCTAGGAAATCTGTGC	0.383000													21	50					0	0	0.005443	0	0
SI	6476	broad.mit.edu	37	3	164786616	164786616	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:164786616A>G	ENST00000264382.3	-	5	439	c.377T>C	c.(376-378)gTt>gCt	p.V126A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	126	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTGGCTTCAACTCCTTAAAG	0.318000										HNSCC(35;0.089)			38	54					0	0	0.004878	0	0
DDR1	780	broad.mit.edu	37	6	30857031	30857031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:30857031C>T	ENST00000324771.8	+	6	789	c.241C>T	c.(241-243)Ccc>Tcc	p.P81S	DDR1_ENST00000376568.3_Missense_Mutation_p.P81S|DDR1_ENST00000376575.3_Missense_Mutation_p.P81S|DDR1_ENST00000376567.2_Missense_Mutation_p.P81S|DDR1_ENST00000376569.3_Missense_Mutation_p.P81S|DDR1_ENST00000376570.4_Missense_Mutation_p.P81S|DDR1_ENST00000508312.1_Missense_Mutation_p.P99S|DDR1_ENST00000454612.2_Missense_Mutation_p.P81S|DDR1_ENST00000452441.1_Missense_Mutation_p.P81S|DDR1_ENST00000446312.1_Missense_Mutation_p.P81S|DDR1_ENST00000513240.1_Missense_Mutation_p.P81S|DDR1_ENST00000418800.2_Missense_Mutation_p.P81S			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	81	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GTCGGTGTTTCCCAAGGAGGA	0.647000													48	67					0	0	0.003610	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123907	99123907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:99123907C>T	ENST00000394170.2	+	6	1495	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.S415F|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.S415F	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	415					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CGGGTGAGTTCCCACCTGGTT	0.577000													34	94					0	0	0.003755	0	0
IQGAP3	128239	broad.mit.edu	37	1	156542304	156542304	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156542304C>A	ENST00000361170.2	-	1	28	c.18G>T	c.(16-18)gcG>gcT	p.A6A		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	6					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCCTGGGCCCGCTGCTCTCC	0.672000													6	188					0.00448238	0.00831004	0.004482	1	0
ZNF560	147741	broad.mit.edu	37	19	9578225	9578225	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9578225C>T	ENST00000301480.4	-	10	1611	c.1398G>A	c.(1396-1398)ggG>ggA	p.G466G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CAAAGGCCTTCCCATATTCCT	0.403000													123	199					0	0	0.003610	0	0
MROH2B	133558	broad.mit.edu	37	5	41064653	41064653	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:41064653G>A	ENST00000399564.4	-	5	831	c.381C>T	c.(379-381)ttC>ttT	p.F127F		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCATCATCATGAAAGGAATAC	0.473000													9	26					0	0	0.000673	0	0
CDH1	999	broad.mit.edu	37	16	68857521	68857521	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:68857521C>T	ENST00000261769.5	+	13	2347	c.2156C>T	c.(2155-2157)gCt>gTt	p.A719V	CDH1_ENST00000422392.2_Missense_Mutation_p.A658V|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	719					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GGAATTCTTGCTTTGCTAAGT	0.443000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				13	25					0	0	0.001368	0	0
TRAV17	28666	broad.mit.edu	37	14	22466149	22466149	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22466149G>A	ENST00000390445.2	+	0	226																											GGGAGAAGAGGATCCTCAGGC	0.418000													17	14					0	0	0.001216	0	0
HERC2	8924	broad.mit.edu	37	15	28424362	28424362	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:28424362A>G	ENST00000261609.7	-	58	9053	c.8945T>C	c.(8944-8946)gTt>gCt	p.V2982A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2982					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)		GAACGAAGGAACCTTTATCTA	0.289000													37	71					0	0	0.001485	0	0
P2RY10	27334	broad.mit.edu	37	X	78216791	78216791	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:78216791C>T	ENST00000171757.2	+	4	1054	c.774C>T	c.(772-774)ccC>ccT	p.P258P	P2RY10_ENST00000544091.1_Silent_p.P258P	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	258						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCTTCACTCCCTATCATATTA	0.453000													39	5					0	0	0.004878	0	0
OAS1	4938	broad.mit.edu	37	12	113344866	113344866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:113344866C>T	ENST00000452357.2	+	1	212	c.22C>T	c.(22-24)Cca>Tca	p.P8S	OAS1_ENST00000445409.2_Missense_Mutation_p.P8S|OAS1_ENST00000553185.1_Missense_Mutation_p.P8S|OAS1_ENST00000202917.5_Missense_Mutation_p.P8S|OAS1_ENST00000551241.1_Missense_Mutation_p.P8S	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	8					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						CAGAAATACCCCAGCCAAATC	0.473000													38	44					0	0	0.002522	0	0
COL24A1	255631	broad.mit.edu	37	1	86315041	86315041	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:86315041T>A	ENST00000370571.2	-	38	3715	c.3349A>T	c.(3349-3351)Aaa>Taa	p.K1117*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.K1117*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1117	Collagen-like 11.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTACCTTTTTTCCTGGACGA	0.343000													55	89					0	0	0.003610	0	0
SLC26A6	65010	broad.mit.edu	37	3	48667391	48667391	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48667391G>A	ENST00000358747.6	-	12	1630	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	SLC26A6_ENST00000455886.2_Silent_p.F445F|SLC26A6_ENST00000420764.2_Silent_p.F481F|SLC26A6_ENST00000395550.2_Silent_p.F481F|SLC26A6_ENST00000383733.3_Silent_p.F481F|SLC26A6_ENST00000337000.8_Silent_p.F374F	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGGTGGCCGTGAAGGTCACCA	0.632000													11	29					0	0	0.000978	0	0
KIF1C	10749	broad.mit.edu	37	17	4926946	4926946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:4926946C>T	ENST00000320785.5	+	23	3169	c.2812C>T	c.(2812-2814)Cgt>Tgt	p.R938C		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	938					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CCGTCGTGGTCGTCTTCGCTG	0.716000													28	2					0	0	0.001512	0	0
CABP5	56344	broad.mit.edu	37	19	48543927	48543927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:48543927C>T	ENST00000293255.2	-	3	303	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	58	EF-hand 1.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		ACCCATCGTCCTCATGAGATT	0.512000													27	45					0	0	0.001786	0	0
PRPH2	5961	broad.mit.edu	37	6	42689943	42689943	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:42689943C>T	ENST00000230381.5	-	1	369	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	44				E -> G (in Ref. 4; AAH74720).	cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TTTCGGAGTTCAATCTTCAGG	0.502000													33	37					0	0	0.003271	0	0
USH2A	7399	broad.mit.edu	37	1	215844436	215844436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215844436C>T	ENST00000366943.2	-	64	14397	c.14011G>A	c.(14011-14013)Gaa>Aaa	p.E4671K	USH2A_ENST00000307340.3_Missense_Mutation_p.E4671K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4671	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)		CTGTATAATTCGTAATACAAA	0.418000										HNSCC(13;0.011)			42	88					0	0	0.001485	0	0
CLGN	1047	broad.mit.edu	37	4	141317334	141317334	+	Missense_Mutation	SNP	C	C	T	rs151290768		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:141317334C>T	ENST00000325617.5	-	9	1350	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	CLGN_ENST00000537281.1_Missense_Mutation_p.E304K|CLGN_ENST00000414773.1_Missense_Mutation_p.E304K	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	304					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTGAATCTTCTATTTGGGCA	0.358000													55	85					0	0	0.003610	0	0
TYW1	55253	broad.mit.edu	37	7	66489985	66489985	+	Silent	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:66489985T>A	ENST00000359626.5	+	7	1124	c.960T>A	c.(958-960)atT>atA	p.I320I		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	320					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGGGCAAAATTATGGATCATG	0.408000													22	43					0	0	0.003330	0	0
CCKAR	886	broad.mit.edu	37	4	26487489	26487489	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:26487489C>T	ENST00000295589.3	-	3	590	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	132					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATATGGCTACCAGATTAAAGG	0.443000													12	16					0	0	0.001368	0	0
ANKRD20A4	728747	broad.mit.edu	37	9	69420375	69420375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:69420375G>A	ENST00000357336.3	+	13	1546	c.1265G>A	c.(1264-1266)gGg>gAg	p.G422E		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	422										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AGAAAGATTGGGAAAACGTAT	0.343000													35	195					0	0	0.004878	0	0
KCNC2	3747	broad.mit.edu	37	12	75441937	75441937	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:75441937C>T	ENST00000549446.1	-	4	2456	c.1776G>A	c.(1774-1776)agG>agA	p.R592R	KCNC2_ENST00000298972.1_Silent_p.R592R|KCNC2_ENST00000393288.2_Silent_p.R592R|KCNC2_ENST00000550433.1_Silent_p.R592R|KCNC2_ENST00000548513.1_Silent_p.R592R|KCNC2_ENST00000341669.3_Silent_p.R592R|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000350228.2_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	592					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCCTACCTTTCCTGATCCCTC	0.408000													41	72					0	0	0.003610	0	0
DHX29	54505	broad.mit.edu	37	5	54565332	54565332	+	Missense_Mutation	SNP	G	G	A	rs141718719		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:54565332G>A	ENST00000251636.5	-	21	3351	c.3203C>T	c.(3202-3204)cCg>cTg	p.P1068L	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1068							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTGGCCCAACGGAGTCAGTTT	0.443000													19	8					0	0	0.000958	0	0
COL11A2	1302	broad.mit.edu	37	6	33157101	33157101	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33157101G>A	ENST00000341947.2	-	2	455	c.228C>T	c.(226-228)ttC>ttT	p.F76F	COL11A2_ENST00000361917.1_Silent_p.F76F|COL11A2_ENST00000374714.1_Silent_p.F76F|COL11A2_ENST00000395194.1_Silent_p.F76F|COL11A2_ENST00000395197.1_Silent_p.F76F|COL11A2_ENST00000374713.1_Silent_p.F76F|COL11A2_ENST00000357486.1_Silent_p.F76F|COL11A2_ENST00000374712.1_Silent_p.F76F|COL11A2_ENST00000374708.4_Silent_p.F76F	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	76	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCATACCTGGGAAAAGCTGGC	0.617000													10	9					0	0	0.001368	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60345056	60345056	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:60345056C>T	ENST00000581291.1	-	0	911																				breast(2)|kidney(1)|lung(2)	5						GCCTCCTTACCCCATCAATCA	0.602000													56	4					0	0	0.003610	0	0
OR6C76	390326	broad.mit.edu	37	12	55820949	55820949	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55820949G>A	ENST00000328314.3	+	1	912	c.912G>A	c.(910-912)aaG>aaA	p.K304K		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTCTGAGAAAGATTTCCCACA	0.328000													15	15					0	0	0.006122	0	0
PADI2	11240	broad.mit.edu	37	1	17422436	17422436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:17422436C>T	ENST00000375486.4	-	4	442	c.379G>A	c.(379-381)Gat>Aat	p.D127N	PADI2_ENST00000375481.1_Missense_Mutation_p.D127N|PADI2_ENST00000444885.2_Missense_Mutation_p.D127N	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	127					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACCACACCATCCCGGTCTGCG	0.617000													49	53					0	0	0.003610	0	0
FAM135B	51059	broad.mit.edu	37	8	139165314	139165314	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:139165314G>A	ENST00000395297.1	-	13	1574	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	468								p.S468S(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)			AATCCATTTGGGATGGTTTTA	0.383000										HNSCC(54;0.14)			29	51					0	0	0.003610	0	0
KRTAP9-3	83900	broad.mit.edu	37	17	39389024	39389024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39389024G>A	ENST00000411528.2	+	1	310	c.271G>A	c.(271-273)Ggt>Agt	p.G91S		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	91	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTCCAGCTGTGGTCAGAGCAG	0.592000													38	10					0	0	0.001287	0	0
C16orf45	89927	broad.mit.edu	37	16	15661858	15661858	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:15661858C>T	ENST00000300006.4	+	3	608	c.249C>T	c.(247-249)ctC>ctT	p.L83L	C16orf45_ENST00000566490.1_Silent_p.L83L|C16orf45_ENST00000561692.1_Silent_p.L35L|C16orf45_ENST00000452191.2_Silent_p.L66L	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	83										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						ACATCCAGCTCTGCAAGGACA	0.517000													9	10					0	0	0.000978	0	0
RAI1	10743	broad.mit.edu	37	17	17701219	17701219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:17701219C>T	ENST00000353383.1	+	3	5426	c.4957C>T	c.(4957-4959)Cct>Tct	p.P1653S	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1653						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGCCACACTCCCTGGAGGCTC	0.647000													29	3					0	0	0.001512	0	0
KMT2B	9757	broad.mit.edu	37	19	36214803	36214803	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36214803C>T	ENST00000222270.7	+	8	3229	c.3229C>T	c.(3229-3231)Cgg>Tgg	p.R1077W	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.R1077W	NM_014727.1	NP_055542.1																					CAAGTCAGCTCGGCGCTGCGT	0.721000													7	9					0	0	0.001984	0	0
CNTN4	152330	broad.mit.edu	37	3	2967375	2967375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:2967375G>A	ENST00000397461.1	+	12	1654	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000427331.1_Missense_Mutation_p.E424K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E205K|CNTN4_ENST00000418658.1_Missense_Mutation_p.E424K|CNTN4_ENST00000397459.2_Missense_Mutation_p.E96K|CNTN4_ENST00000448906.2_Missense_Mutation_p.E96K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	424	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E424K(1)|p.E96K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGTGGGAGGTGAAGTTGTCAT	0.363000													74	97					0	0	0.003610	0	0
ANXA1	301	broad.mit.edu	37	9	75775278	75775278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:75775278C>T	ENST00000376911.1	+	4	1252	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	ANXA1_ENST00000257497.6_Missense_Mutation_p.R124C			P04083	ANXA1_HUMAN	annexin A1	124					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGATGAACTTCGTGCTGCCAT	0.433000													98	15					0	0	0.003610	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603833	140603833	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140603833C>T	ENST00000239449.4	+	1	756	c.756C>T	c.(754-756)ccC>ccT	p.P252P	PCDHB14_ENST00000515856.2_Silent_p.P99P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		252	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAAGTCCCCGAGGACAGAC	0.488000													17	10					0	0	0.004007	0	0
ATP1A2	477	broad.mit.edu	37	1	160109445	160109445	+	Silent	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160109445T>A	ENST00000361216.3	+	21	2945	c.2856T>A	c.(2854-2856)atT>atA	p.I952I	ATP1A2_ENST00000392233.3_Silent_p.I952I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	952					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGATCCTGATTTTTGGGCTCC	0.557000													31	35					0	0	0.004878	0	0
OR5D18	219438	broad.mit.edu	37	11	55587576	55587576	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55587576C>T	ENST00000333976.4	+	1	491	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTCATGTTCCTTGGAACTGA	0.468000													55	56					0	0	0.003610	0	0
ADCY5	111	broad.mit.edu	37	3	123014943	123014943	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:123014943G>A	ENST00000462833.1	-	17	4263	c.3051C>T	c.(3049-3051)ctC>ctT	p.L1017L	ADCY5_ENST00000491190.1_Silent_p.L675L|ADCY5_ENST00000309879.5_Silent_p.L667L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1017					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCAGTTTCCAGAGGAAGTCGA	0.637000													15	18					0	0	0.003163	0	0
C2orf54	79919	broad.mit.edu	37	2	241830990	241830990	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:241830990C>T	ENST00000307486.8	-	2	356	c.258G>A	c.(256-258)ggG>ggA	p.G86G	C2orf54_ENST00000402775.2_Silent_p.G67G|C2orf54_ENST00000388934.4_Silent_p.G235G			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	235										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCAGGTCCACCCCTTGGCTGA	0.677000													25	25					0	0	0.001271	0	0
DNAH8	1769	broad.mit.edu	37	6	38754604	38754604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38754604C>T	ENST00000359357.3	+	16	2062	c.1808C>T	c.(1807-1809)cCc>cTc	p.P603L	DNAH8_ENST00000449981.2_Missense_Mutation_p.P820L|DNAH8_ENST00000441566.1_Missense_Mutation_p.P603L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATTTCGATCCCAAAATTTTG	0.353000													19	23					0	0	0.000958	0	0
PSG3	5671	broad.mit.edu	37	19	43243228	43243228	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43243228G>A	ENST00000327495.5	-	2	262	c.78C>T	c.(76-78)aaC>aaT	p.N26N	PSG3_ENST00000595140.1_Silent_p.N26N|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	26					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGTTCCAGAAGTTTAAAAGTA	0.488000													75	31					0	0	0.003610	0	0
ATP5J	522	broad.mit.edu	37	21	27097615	27097615	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:27097615G>A	ENST00000400093.3	-	3	902	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	ATP5J_ENST00000284971.3_Silent_p.L71L|ATP5J_ENST00000400090.3_Silent_p.L71L|ATP5J_ENST00000400099.1_Silent_p.L71L|ATP5J_ENST00000457143.2_Silent_p.L79L|ATP5J_ENST00000400087.3_Silent_p.L71L|ATP5J_ENST00000400094.1_Silent_p.L71L	NM_001003701.1|NM_001003703.1|NM_001685.4	NP_001003701.1|NP_001003703.1|NP_001676.2	P18859	ATP5J_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6	71					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			cervix(1)|endometrium(1)|lung(1)|pancreas(1)	4						TCCCTCTCCAGCTCTTGCTGA	0.368000													18	18					0	0	0.006122	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885815	88885815	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:88885815A>T	ENST00000319675.3	-	1	481	c.385T>A	c.(385-387)Tct>Act	p.S129T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	129										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CAGCACATAGAATTCACCTTC	0.567000													40	38					0	0	0.005524	0	0
PSG5	5673	broad.mit.edu	37	19	43683103	43683103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43683103C>T	ENST00000599812.1	-	3	732	c.637G>A	c.(637-639)Gga>Aga	p.G213R	PSG5_ENST00000404580.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407356.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	118	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCATAGGGTCCTGCAATATAC	0.502000													88	134					0	0	0.003610	0	0
CRYGS	1427	broad.mit.edu	37	3	186257173	186257173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:186257173G>A	ENST00000392499.2	-	3	574	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	CRYGS_ENST00000307944.5_Missense_Mutation_p.R79C	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	79	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens	p.R79C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		GAGCTGAGGCGGTCGTTGAGG	0.537000													9	18					0	0	0.004482	0	0
TMC1	117531	broad.mit.edu	37	9	75403289	75403289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:75403289G>A	ENST00000297784.5	+	14	1459	c.919G>A	c.(919-921)Gat>Aat	p.D307N	TMC1_ENST00000396237.3_Missense_Mutation_p.D307N|TMC1_ENST00000340019.3_Missense_Mutation_p.D307N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	307					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGGAGGTGGAGATGACAACAC	0.403000													43	8					0	0	0.002522	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644459	18644459	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:18644459C>T	ENST00000433979.1	+	19	2753	c.2637C>T	c.(2635-2637)aaC>aaT	p.N879N	PIK3C2G_ENST00000266497.5_Silent_p.N879N|PIK3C2G_ENST00000538779.1_Silent_p.N920N	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	879					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTCCTCTGAACCCTGCCCTAT	0.333000													42	71					0	0	0.002852	0	0
CDH2	1000	broad.mit.edu	37	18	25568577	25568577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:25568577C>T	ENST00000269141.3	-	11	2075	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	CDH2_ENST00000399380.3_Missense_Mutation_p.G520E	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	551	Cadherin 4.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.G551E(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGTTATTTGTCCATTCACAGG	0.308000													20	28					0	0	0.001216	0	0
ITGA8	8516	broad.mit.edu	37	10	15647748	15647748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:15647748G>A	ENST00000378076.3	-	19	2298	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	649					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						TTCAAGTCAGGAACACACAGA	0.388000													16	29					0	0	0.004990	0	0
AP1B1	162	broad.mit.edu	37	22	29734987	29734987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:29734987G>A	ENST00000357586.2	-	16	2341	c.2155C>T	c.(2155-2157)Ccc>Tcc	p.P719S	AP1B1_ENST00000356015.2_Missense_Mutation_p.P712S|AP1B1_ENST00000405198.1_Missense_Mutation_p.P719S|AP1B1_ENST00000402502.1_Missense_Mutation_p.P712S|AP1B1_ENST00000432560.2_Missense_Mutation_p.P712S|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000415447.1_Missense_Mutation_p.P712S|AP1B1_ENST00000317368.7_Missense_Mutation_p.P712S	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	719	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTGCTTTGGGGGCCACATAT	0.552000													65	81					0	0	0.003610	0	0
KCNH7	90134	broad.mit.edu	37	2	163302840	163302840	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:163302840G>A	ENST00000332142.5	-	7	1341	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	KCNH7_ENST00000328032.4_Silent_p.I407I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	414					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CCAACAGCAGGATAAGCCAGT	0.453000													18	30					0	0	0.001216	0	0
SCN3A	6328	broad.mit.edu	37	2	165986541	165986541	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:165986541C>T	ENST00000360093.3	-	17	3322	c.2831G>A	c.(2830-2832)tGg>tAg	p.W944*	SCN3A_ENST00000283254.7_Nonsense_Mutation_p.W944*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.W895*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	944						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)	GGTCTCTATCCACTCTCCACA	0.493000													49	68					0	0	0.003610	0	0
FLNB	2317	broad.mit.edu	37	3	58139106	58139106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:58139106C>T	ENST00000357272.4	+	40	6607	c.6442C>T	c.(6442-6444)Caa>Taa	p.Q2148*	FLNB_ENST00000493452.1_Silent_p.I1931I|FLNB_ENST00000490882.1_Silent_p.I2155I|FLNB_ENST00000429972.2_Silent_p.I2113I|FLNB_ENST00000295956.4_Silent_p.I2124I|FLNB_ENST00000419752.2_Silent_p.I1944I|FLNB_ENST00000348383.5_Silent_p.I2083I|FLNB_ENST00000358537.3_Silent_p.I2100I			O75369	FLNB_HUMAN	filamin B, beta	0	Interaction with FLNA 1.|Interaction with INPPL1.|Interaction with the cytoplasmic tail of GP1BA.				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)		TTTCAGAAATCAACAGCAGTG	0.592000													18	22					0	0	0.001523	0	0
THBS1	7057	broad.mit.edu	37	15	39874923	39874923	+	Silent	SNP	C	C	T	rs138250796		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39874923C>T	ENST00000260356.5	+	3	762	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	199	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GACTCCGCATCGCAAAGGGGG	0.562000													9	25					0	0	0.000443	0	0
STK26	51765	broad.mit.edu	37	X	131206371	131206371	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:131206371G>A	ENST00000394334.2	+	9	1261	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	MST4_ENST00000481105.1_Silent_p.K358K|MST4_ENST00000354719.6_Silent_p.K336K|MST4_ENST00000496850.1_Silent_p.K274K|MST4_ENST00000394335.2_Silent_p.K259K	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		336					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CTGATCCAAAGAAAGTACAGA	0.393000													11	2					0	0	0.000978	0	0
FDXACB1	91893	broad.mit.edu	37	11	111746467	111746467	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:111746467G>A	ENST00000260257.4	-	5	1101	c.1054C>T	c.(1054-1056)Cta>Tta	p.L352L	ALG9_ENST00000527377.1_5'UTR|FDXACB1_ENST00000542429.1_Silent_p.L203L|ALG9_ENST00000524880.1_Intron	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	352					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						ACATGCACTAGGAGAGAAGGT	0.473000													35	61					0	0	0.004289	0	0
HK2	3099	broad.mit.edu	37	2	75107649	75107649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:75107649C>T	ENST00000290573.2	+	10	2123	c.1523C>T	c.(1522-1524)cCc>cTc	p.P508L	HK2_ENST00000409174.1_Missense_Mutation_p.P480L	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	508	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GCCAGTGCCCCCGTCAAGATG	0.597000													13	22					0	0	0.001855	0	0
ZNF536	9745	broad.mit.edu	37	19	31040052	31040052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:31040052G>A	ENST00000355537.3	+	4	3673	c.3526G>A	c.(3526-3528)Gag>Aag	p.E1176K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTCCAAGGGGGAGAACAACGA	0.542000													32	33					0	0	0.004878	0	0
KEL	3792	broad.mit.edu	37	7	142649701	142649701	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:142649701G>A	ENST00000355265.2	-	10	1572	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	366					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAGCCCTAAGATCATGTGGC	0.527000													36	14					0	0	0.001706	0	0
DNAH8	1769	broad.mit.edu	37	6	38997991	38997991	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:38997991C>T	ENST00000359357.3	+	91	13550	c.13296C>T	c.(13294-13296)ctC>ctT	p.L4432L	DNAH8_ENST00000441566.1_Silent_p.L4396L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACCCGTGCTCCACATCTTTG	0.507000											OREG0017409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	39					0	0	0.003271	0	0
AOC2	314	broad.mit.edu	37	17	41002343	41002343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:41002343C>T	ENST00000253799.3	+	4	2276	c.2249C>T	c.(2248-2250)cCt>cTt	p.P750L	AOC2_ENST00000452774.2_Missense_Mutation_p.P723L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	750					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GACTTACCCCCTTTCTCTTAC	0.557000													85	35					0	0	0.003610	0	0
TRHDE	29953	broad.mit.edu	37	12	72955960	72955960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:72955960C>T	ENST00000261180.4	+	8	1765	c.1669C>T	c.(1669-1671)Cat>Tat	p.H557Y	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	557					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTAACCATTCATAAGTATGG	0.264000													11	18					0	0	0.001368	0	0
EPHA2	1969	broad.mit.edu	37	1	16458927	16458927	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:16458927G>A	ENST00000358432.5	-	12	2215	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	687	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TGATCATCATGGGCTTGTCTG	0.597000													22	31					0	0	0.002780	0	0
TRANK1	9881	broad.mit.edu	37	3	36873995	36873995	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:36873995C>T	ENST00000429976.2	-	21	7194	c.6947G>A	c.(6946-6948)aGg>aAg	p.R2316K	TRANK1_ENST00000301807.6_Missense_Mutation_p.R1766K|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1766K			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2316					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTTGAGTTCCCTGTTGTAGTT	0.512000													39	46					0	0	0.002522	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013000	73013000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:73013000C>T	ENST00000308744.6	+	4	1138	c.1040C>T	c.(1039-1041)tCa>tTa	p.S347L	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.S248L|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S245L	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	347					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ATTGGAATTTCACTCTTCAGG	0.488000													17	34					0	0	0.001216	0	0
FAM154B	283726	broad.mit.edu	37	15	82564131	82564131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:82564131C>T	ENST00000339465.5	+	2	310	c.241C>T	c.(241-243)Cca>Tca	p.P81S	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.P66S|FAM154B_ENST00000565432.1_Missense_Mutation_p.P94S	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	81										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						GGACACTGTCCCAACCTATAA	0.373000													15	19					0	0	0.004990	0	0
CCDC15	80071	broad.mit.edu	37	11	124873825	124873825	+	Silent	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124873825T>A	ENST00000529051.1	+	12	2536	c.2277T>A	c.(2275-2277)tcT>tcA	p.S759S	CCDC15_ENST00000344762.5_Silent_p.S759S			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	759						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATTTCAGTCTGACGTGGATA	0.353000													7	16					0	0	0.003080	0	0
SMPD3	55512	broad.mit.edu	37	16	68405192	68405192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:68405192G>A	ENST00000219334.5	-	3	1496	c.893C>T	c.(892-894)tCc>tTc	p.S298F	SMPD3_ENST00000568373.1_Missense_Mutation_p.S298F|SMPD3_ENST00000563226.1_Missense_Mutation_p.S298F	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	298					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GGACTCCCGGGAGGCCGAGGG	0.692000													13	16					0	0	0.001368	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147051353	147051353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:147051353C>T	ENST00000265272.5	-	2	484	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R6Q|JAKMIP2_ENST00000333010.6_Intron	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	6						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTTATTTCGCCCTTTCTT	0.458000													12	9					0	0	0.002450	0	0
AGXT	189	broad.mit.edu	37	2	241808728	241808728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:241808728G>A	ENST00000307503.3	+	2	694	c.307G>A	c.(307-309)Ggg>Agg	p.G103R		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	103					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTTCCTGGTTGGGGCCAATGG	0.642000													22	36					0	0	0.004656	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55263828	55263828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55263828G>A	ENST00000342376.3	+	8	914	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GGACTCTGATGAACAAGACCC	0.527000													83	153					0	0	0.003610	0	0
PTPRD	5789	broad.mit.edu	37	9	8500768	8500768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:8500768C>T	ENST00000381196.4	-	21	2657	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.R705Q|PTPRD_ENST00000360074.4_Missense_Mutation_p.R692Q|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.R692Q|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.R705Q|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	705	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCATTGGTTCGAATCAACAC	0.473000										TSP Lung(15;0.13)			17	10					0	0	0.004990	0	0
FILIP1	27145	broad.mit.edu	37	6	76023924	76023924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:76023924C>T	ENST00000393004.2	-	5	1845	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	FILIP1_ENST00000370020.1_Missense_Mutation_p.D443N|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.D542N			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	542										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCAGTTACATCCATAACTTTT	0.289000													18	17					0	0	0.006122	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290876	141290876	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:141290876G>A	ENST00000247452.3	-	3	1245	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	300	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGACCCCACAGGAATTCATAA	0.488000										HNSCC(46;0.14)			35	9					0	0	0.004289	0	0
C12orf76	400073	broad.mit.edu	37	12	110489039	110489039	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:110489039G>A	ENST00000548191.1	-	2	329	c.72C>T	c.(70-72)gcC>gcT	p.A24A	C12orf76_ENST00000548936.1_Intron|C12orf76_ENST00000309050.5_Intron			Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						aggctctgcaggccacttccg	0.542000													9	11					0	0	0.000673	0	0
LAMB1	3912	broad.mit.edu	37	7	107626734	107626734	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:107626734G>A	ENST00000393561.1	-	4	754	c.570C>T	c.(568-570)ttC>ttT	p.F190F	LAMB1_ENST00000222399.6_Silent_p.F166F|LAMB1_ENST00000393560.1_Silent_p.F166F			P07942	LAMB1_HUMAN	laminin, beta 1	166	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCATAGGCGAAGTATCTAT	0.448000													29	72					0	0	0.002836	0	0
PTPRD	5789	broad.mit.edu	37	9	8341692	8341692	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:8341692C>T	ENST00000381196.4	-	37	5491		c.e37+1		PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site|PTPRD_ENST00000358503.5_Splice_Site|PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000397606.3_Splice_Site	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAATACCATACCTTAAATTCG	0.403000										TSP Lung(15;0.13)			44	22					0	0	0.003610	0	0
CPA2	1358	broad.mit.edu	37	7	129909541	129909541	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:129909541G>A	ENST00000222481.4	+	3	241	c.186G>A	c.(184-186)ggG>ggA	p.G62G		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	62					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCACCCCAGGGGAGACAGCCC	0.507000													13	52					0	0	0.002450	0	0
CCDC102A	92922	broad.mit.edu	37	16	57552139	57552139	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:57552139C>T	ENST00000258214.2	-	6	1335	c.1089G>A	c.(1087-1089)cgG>cgA	p.R363R		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	363										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CTGTCTCCAGCCGCTCCCGGC	0.697000													35	68					0	0	0.001706	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86541412	86541412	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:86541412G>A	ENST00000450689.2	-	15	2330	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	KIAA1324L_ENST00000416314.1_Silent_p.F548F|KIAA1324L_ENST00000297222.6_Silent_p.F475F|KIAA1324L_ENST00000444627.1_Silent_p.F644F	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	715						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AACTGATATTGAAGAAATGGA	0.423000													89	66					0	0	0.003610	0	0
KIF15	56992	broad.mit.edu	37	3	44844348	44844348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:44844348C>T	ENST00000326047.4	+	14	1701	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y	KIF15_ENST00000425755.1_Missense_Mutation_p.H153Y	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	518					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			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)		TATGGAAAATCATTCCCTCAG	0.378000													36	43					0	0	0.001287	0	0
FAM49A	81553	broad.mit.edu	37	2	16742758	16742758	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:16742758C>T	ENST00000381323.3	-	7	699	c.479G>A	c.(478-480)aGa>aAa	p.R160K	FAM49A_ENST00000355549.2_Missense_Mutation_p.R160K|FAM49A_ENST00000406434.1_Missense_Mutation_p.R160K	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	160						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ACTGATTGTTCTTCTGTAGTA	0.483000													20	42					0	0	0.003954	0	0
MYH15	22989	broad.mit.edu	37	3	108135770	108135770	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108135770G>A	ENST00000273353.3	-	30	3953	c.3897C>T	c.(3895-3897)ttC>ttT	p.F1299F		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1299						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCCTCCGTAGGAACTCGCCTA	0.443000													21	28					0	0	0.001061	0	0
LIPC	3990	broad.mit.edu	37	15	58855704	58855704	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:58855704G>A	ENST00000414170.3	+	9	1457	c.1169_splice	c.e9-1	p.L390_splice	LIPC_ENST00000299022.5_Splice_Site_p.L390_splice|LIPC_ENST00000356113.6_Splice_Site_p.L390_splice|LIPC_ENST00000433326.2_Splice_Site_p.L329_splice			P11150	LIPC_HUMAN	lipase, hepatic	390	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TGTATTCAAGGGGCAAAGGAA	0.413000													11	15					0	0	0.000978	0	0
KLKB1	3818	broad.mit.edu	37	4	187172987	187172987	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:187172987G>A	ENST00000264690.6	+	10	1303	c.1116G>A	c.(1114-1116)ttG>ttA	p.L372L	KLKB1_ENST00000513864.1_Silent_p.L372L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	372	Apple 4.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTTACTCTTTGAGATTGTGTA	0.423000													36	60					0	0	0.004878	0	0
CPXM2	119587	broad.mit.edu	37	10	125528047	125528047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:125528047C>T	ENST00000241305.3	-	9	1448	c.1294G>A	c.(1294-1296)Gaa>Aaa	p.E432K	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	432					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		ATTACCCCTTCGTAGGCCTTC	0.612000													6	18					0	0	0.001168	0	0
ILDR2	387597	broad.mit.edu	37	1	166927192	166927192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:166927192G>A	ENST00000271417.3	-	2	248	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	ILDR2_ENST00000529071.1_Missense_Mutation_p.R65C|ILDR2_ENST00000469934.2_Missense_Mutation_p.R65C|ILDR2_ENST00000528703.1_Missense_Mutation_p.R65C|ILDR2_ENST00000525740.1_Missense_Mutation_p.R65C|ILDR2_ENST00000526687.1_Missense_Mutation_p.R65C|ILDR2_ENST00000529387.1_Missense_Mutation_p.R65C	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	65	Ig-like V-type.					integral to membrane		p.R65C(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TCTCCCATGCGATCCTGGCAG	0.557000													30	87					0	0	0.002445	0	0
C16orf91	283951	broad.mit.edu	37	16	1476274	1476274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1476274C>T	ENST00000310355.1	-	3	348	c.349G>A	c.(349-351)Gcc>Acc	p.A117T				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AATCGAAGGGCCCTCTGGTTA	0.612000													12	28					0	0	0.000978	0	0
MYH9	4627	broad.mit.edu	37	22	36690308	36690308	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:36690308C>A	ENST00000216181.5	-	28	3897	c.3667G>T	c.(3667-3669)Gag>Tag	p.E1223*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1223					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGCTCGTTCTCCAGAGTCTGC	0.592000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				23	28					3.73808e-20	7.02899e-20	0.005443	1	0
TNXB	7148	broad.mit.edu	37	6	32039786	32039786	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32039786G>A	ENST00000375244.3	-	13	5172	c.4971C>T	c.(4969-4971)gtC>gtT	p.V1657V	TNXB_ENST00000375247.2_Silent_p.V1657V			P22105	TENX_HUMAN	tenascin XB	1739					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						CCTCCACAGAGACTGGGCTGC	0.592000													34	55					0	0	0.001706	0	0
SLC17A6	57084	broad.mit.edu	37	11	22387233	22387233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:22387233G>A	ENST00000263160.3	+	7	1326	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	297					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						AGGTGCAATGGAAGTAAGAAA	0.373000													20	45					0	0	0.001523	0	0
SPP2	6694	broad.mit.edu	37	2	234969093	234969093	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:234969093C>T	ENST00000168148.3	+	4	502	c.414C>T	c.(412-414)tcC>tcT	p.S138S	SPP2_ENST00000373368.1_Silent_p.S138S	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	138					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GCTGGTCCTCCTCCACGTCTG	0.567000													20	24					0	0	0.001523	0	0
MYH2	4620	broad.mit.edu	37	17	10440695	10440695	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10440695G>A	ENST00000245503.5	-	16	2136	c.1752C>T	c.(1750-1752)caC>caT	p.H584H	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Silent_p.H584H|MYH2_ENST00000397183.2_Silent_p.H584H|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	584	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CACCAGCATAGTGAATCAGAG	0.527000													87	17					0	0	0.003610	0	0
DRAXIN	374946	broad.mit.edu	37	1	11766526	11766526	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:11766526C>T	ENST00000294485.5	+	2	346	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GGGCCCAGGCCTGCCCAGCCA	0.716000													7	8					0	0	0.004482	0	0
GLRA2	2742	broad.mit.edu	37	X	14548226	14548226	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:14548226T>A	ENST00000218075.4	+	1	577	c.47T>A	c.(46-48)tTc>tAc	p.F16Y	GLRA2_ENST00000355020.4_Missense_Mutation_p.F16Y|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	16					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TTTGCATTTTTCTTAGAGACA	0.368000													18	8					0	0	0.003330	0	0
EBPL	84650	broad.mit.edu	37	13	50235188	50235188	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:50235188G>A	ENST00000242827.6	-	4	587	c.537C>T	c.(535-537)atC>atT	p.I179I	EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	179					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GCAGTCCTGGGATCAGAACCC	0.458000													15	29					0	0	0.003163	0	0
NGEF	25791	broad.mit.edu	37	2	233839538	233839538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:233839538C>T	ENST00000264051.3	-	2	341	c.63G>A	c.(61-63)tgG>tgA	p.W21*		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	21	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TATCAGTGTTCCATTGATCAC	0.453000													33	60					0	0	0.002836	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37421210	37421210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:37421210G>A	ENST00000374660.1	+	4	484	c.385G>A	c.(385-387)Gag>Aag	p.E129K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E129K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E129K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	185						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						GAAAAGAAGTGAGCAAATTGT	0.294000													53	71					0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110463372	110463372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:110463372G>A	ENST00000378402.5	+	41	6448	c.6344G>A	c.(6343-6345)gGa>gAa	p.G2115E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2115	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGGGATCAGGATTCAGGTAC	0.512000										HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	5					0	0	0.000443	0	0
GIGYF1	64599	broad.mit.edu	37	7	100285477	100285477	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100285477G>A	ENST00000275732.5	-	3	1404	c.195C>T	c.(193-195)ttC>ttT	p.F65F	GIGYF1_ENST00000471340.2_5'UTR	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	65										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCACCGCGGCGAACTCCTTGT	0.677000													22	38					0	0	0.002299	0	0
ENTHD1	150350	broad.mit.edu	37	22	40217101	40217101	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40217101C>T	ENST00000325157.6	-	5	979	c.729G>A	c.(727-729)ttG>ttA	p.L243L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	243										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GATCATCATCCAAAAATGTCA	0.388000													14	19					0	0	0.003163	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45716535	45716535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45716535C>T	ENST00000413988.1	-	10	1062	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.R341Q|AC006126.3_ENST00000591569.1_Intron	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	341										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		TTCCAGGTCCCGGGCCACGGC	0.662000													14	21					0	0	0.004990	0	0
OR10A7	121364	broad.mit.edu	37	12	55615096	55615096	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55615096C>T	ENST00000326258.1	+	1	288	c.288C>T	c.(286-288)ggC>ggT	p.G96G		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	96			G -> S (in dbSNP:rs12578318).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CTTTTGTGGGCTGTGGTACCC	0.418000													53	82					0	0	0.003610	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113925	117113925	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117113925G>A	ENST00000310357.3	-	6	2182	c.2161C>T	c.(2161-2163)Ctc>Ttc	p.L721F	GPRC6A_ENST00000368549.3_Missense_Mutation_p.L650F|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L546F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	721					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATTAGCCAGAGTGTGCAAATG	0.463000													22	25					0	0	0.003330	0	0
SCN11A	11280	broad.mit.edu	37	3	38936397	38936397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38936397C>T	ENST00000450244.1	-	15	2660	c.2462G>A	c.(2461-2463)gGa>gAa	p.G821E	SCN11A_ENST00000456224.3_Missense_Mutation_p.G821E|SCN11A_ENST00000444237.2_Missense_Mutation_p.G821E|SCN11A_ENST00000302328.3_Missense_Mutation_p.G821E			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	821					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G821E(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTCTAAGTTTCCATTTCTTTC	0.448000													12	29					0	0	0.003163	0	0
PRR14	78994	broad.mit.edu	37	16	30664712	30664712	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:30664712C>T	ENST00000542965.2	+	5	987	c.531C>T	c.(529-531)ttC>ttT	p.F177F	PRR14_ENST00000300835.4_Silent_p.F177F			Q9BWN1	PRR14_HUMAN	proline rich 14	177	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCCCCAACTTCATCATCCCAG	0.532000													24	36					0	0	0.001061	0	0
OR10W1	81341	broad.mit.edu	37	11	58035120	58035120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:58035120G>A	ENST00000395079.2	-	1	612	c.211C>T	c.(211-213)Cat>Tat	p.H71Y		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H71N(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GCCAGGATATGGGGCACCACC	0.512000													26	26					0	0	0.001061	0	0
QSER1	79832	broad.mit.edu	37	11	32979608	32979608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:32979608C>T	ENST00000399302.2	+	8	4893	c.4558C>T	c.(4558-4560)Cat>Tat	p.H1520Y	QSER1_ENST00000527788.1_Missense_Mutation_p.H1281Y	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1520										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCCTGAGATCCATACTAGTAG	0.418000													9	8					0	0	0.000978	0	0
OFD1	8481	broad.mit.edu	37	X	13778281	13778281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:13778281C>T	ENST00000380567.1	+	17	2154	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R528C|OFD1_ENST00000340096.6_Missense_Mutation_p.R568C			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	568					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGTGATCGATCGTTCTGTCAA	0.418000													47	14					0	0	0.003610	0	0
ERBB2	2064	broad.mit.edu	37	17	37879848	37879848	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:37879848C>T	ENST00000406381.2	+	20	2563	c.2053C>T	c.(2053-2055)Ctg>Ttg	p.L685L	ERBB2_ENST00000541774.1_Silent_p.L700L|ERBB2_ENST00000540147.1_Silent_p.L685L|ERBB2_ENST00000269571.5_Silent_p.L715L|ERBB2_ENST00000584450.1_Silent_p.L715L|ERBB2_ENST00000445658.2_Silent_p.L439L|ERBB2_ENST00000584601.1_Silent_p.L685L	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	715					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GATGCGGATCCTGAAAGAGAC	0.662000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			14	3					0	0	0.003163	0	0
SCN5A	6331	broad.mit.edu	37	3	38597962	38597962	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38597962G>A	ENST00000413689.1	-	25	4600	c.4407C>T	c.(4405-4407)atC>atT	p.I1469I	SCN5A_ENST00000423572.2_Silent_p.I1468I|SCN5A_ENST00000414099.2_Silent_p.I1451I|SCN5A_ENST00000333535.4_Silent_p.I1469I|SCN5A_ENST00000455624.2_Silent_p.I1468I|SCN5A_ENST00000450102.2_Silent_p.I1415I|SCN5A_ENST00000451551.2_Silent_p.I1415I|SCN5A_ENST00000449557.2_Silent_p.I1415I|SCN5A_ENST00000443581.1_Silent_p.I1468I|SCN5A_ENST00000425664.1_Silent_p.I1451I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1469					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGTTGTCAATGATGACACCAA	0.493000													4	8					0	0	0.000602	0	0
KRT9	3857	broad.mit.edu	37	17	39727617	39727617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:39727617C>T	ENST00000246662.4	-	1	693	c.628G>A	c.(628-630)Gat>Aat	p.D210N	KRT9_ENST00000588431.1_5'UTR	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	210	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TCCTTGAGATCATCAATAGTG	0.418000													85	34					0	0	0.003610	0	0
ITGA4	3676	broad.mit.edu	37	2	182363378	182363378	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:182363378G>A	ENST00000397033.2	+	15	1999	c.1569G>A	c.(1567-1569)gtG>gtA	p.V523V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	523					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTTTGGATGTGAACAGAAAGG	0.333000													16	41					0	0	0.006122	0	0
FOXI1	2299	broad.mit.edu	37	5	169533036	169533036	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:169533036C>T	ENST00000449804.2	+	1	120	c.75C>T	c.(73-75)ccC>ccT	p.P25P	FOXI1_ENST00000306268.6_Silent_p.P25P	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	25	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCAGGAGCCCCCCGAGATGA	0.701000									Pendred syndrome				12	7					0	0	0.003163	0	0
DCAF16	54876	broad.mit.edu	37	4	17805433	17805433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:17805433G>A	ENST00000382247.1	-	3	1392	c.332C>T	c.(331-333)cCt>cTt	p.P111L	DCAF16_ENST00000536863.1_Missense_Mutation_p.P111L	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	111						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GGGCCATTCAGGAATTGGTTC	0.498000													58	78					0	0	0.003610	0	0
VILL	50853	broad.mit.edu	37	3	38044760	38044760	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38044760C>T	ENST00000283713.6	+	15	2027	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	VILL_ENST00000383759.2_Silent_p.F587F|VILL_ENST00000465644.1_Silent_p.F305F			O15195	VILL_HUMAN	villin-like	587					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTCCCCACTTCTGGGAGGCCC	0.592000											OREG0015475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	9					0	0	0.004990	0	0
CNTN5	53942	broad.mit.edu	37	11	100179205	100179205	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100179205G>A	ENST00000527185.1	+	21	3074	c.2735G>A	c.(2734-2736)tGa>tAa	p.*912*	CNTN5_ENST00000524871.1_Intron|CNTN5_ENST00000528682.1_Intron|CNTN5_ENST00000279463.3_Intron|CNTN5_ENST00000524560.1_Intron|CNTN5_ENST00000418526.2_Intron	NM_001243271.1	NP_001230200.1	O94779	CNTN5_HUMAN	contactin 5	0	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTGAGGTATGAACAGAATGA	0.398000													11	14					0	0	0.000978	0	0
KYNU	8942	broad.mit.edu	37	2	143742654	143742654	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:143742654G>A	ENST00000264170.4	+	9	989	c.729_splice	c.e9-1	p.G244_splice	KYNU_ENST00000409512.1_Splice_Site_p.G244_splice|KYNU_ENST00000375773.2_Splice_Site_p.G244_splice	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	244					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CTTCCCTAGGGTTGTTATGTT	0.348000													30	39					0	0	0.001271	0	0
MARK2	2011	broad.mit.edu	37	11	63672372	63672372	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:63672372C>T	ENST00000402010.2	+	16	2370	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	MARK2_ENST00000509502.2_Silent_p.F563F|MARK2_ENST00000425897.2_Silent_p.F517F|MARK2_ENST00000361128.5_Silent_p.F543F|MARK2_ENST00000513765.2_Silent_p.F564F|MARK2_ENST00000502399.3_Silent_p.F596F|MARK2_ENST00000377810.3_Silent_p.F509F|MARK2_ENST00000377809.4_Silent_p.F597F|MARK2_ENST00000408948.3_Silent_p.F509F|MARK2_ENST00000315032.8_Silent_p.F597F|MARK2_ENST00000508192.1_Silent_p.F542F|MARK2_ENST00000413835.2_Silent_p.F543F|MARK2_ENST00000350490.7_Silent_p.F542F	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	597					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GAAGCACCTTCCATGCTGGGC	0.667000													17	27					0	0	0.004990	0	0
NEU4	129807	broad.mit.edu	37	2	242752549	242752549	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:242752549G>A	ENST00000391969.2	+	0	520				NEU4_ENST00000407683.1_Intron|NEU4_ENST00000405370.1_Intron|NEU4_ENST00000325935.6_Missense_Mutation_p.R9K|AC114730.3_ENST00000420272.2_RNA|NEU4_ENST00000404257.1_Missense_Mutation_p.R9K	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4							lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GCCTTCCCAAGGTGGCTGGTG	0.687000													11	11					0	0	0.001368	0	0
PRPF6	24148	broad.mit.edu	37	20	62614414	62614414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62614414C>T	ENST00000535781.1	+	2	197	c.86C>T	c.(85-87)aCc>aTc	p.T29I	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	29					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ACTGGCTTCACCACGCGGTCA	0.562000													8	27					0	0	0.003080	0	0
PDE1C	5137	broad.mit.edu	37	7	32109931	32109931	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:32109931C>T	ENST00000396184.3	-	2	279	c.75G>A	c.(73-75)gaG>gaA	p.E25E	PDE1C_ENST00000396193.1_Intron|PDE1C_ENST00000321453.7_Silent_p.E25E|PDE1C_ENST00000396191.1_Silent_p.E25E|PDE1C_ENST00000396182.2_Silent_p.E25E	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	25					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCCAGATTTTCTCGATCTGTT	0.517000													37	55					0	0	0.002522	0	0
KRT6A	3853	broad.mit.edu	37	12	52881613	52881613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52881613G>A	ENST00000330722.6	-	9	1654	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	529	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCACTGCTGGAACTGAAGCC	0.607000													20	27					0	0	0.001216	0	0
XIRP2	129446	broad.mit.edu	37	2	167992424	167992424	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:167992424G>A	ENST00000409195.1	+	3	503	c.414G>A	c.(412-414)gtG>gtA	p.V138V	XIRP2_ENST00000420519.1_Silent_p.V138V|XIRP2_ENST00000409043.1_Silent_p.V138V|XIRP2_ENST00000409756.2_Silent_p.V138V|XIRP2-AS1_ENST00000525330.1_RNA|XIRP2_ENST00000295237.9_Silent_p.V138V|XIRP2_ENST00000409728.1_Silent_p.V138V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					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						AACAGGAAGTGGAAATTGAGC	0.428000													26	45					0	0	0.003330	0	0
PIDD	55367	broad.mit.edu	37	11	802267	802267	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:802267G>A	ENST00000347755.5	-	6	1245	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	PIDD_ENST00000411829.2_Silent_p.V368V	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	368	ZU5 1.				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GACCCAGGGGGACGAGGCCTG	0.706000													8	21					0	0	0.000443	0	0
SEMA6D	80031	broad.mit.edu	37	15	48060830	48060830	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:48060830C>T	ENST00000316364.5	+	18	2257	c.1818C>T	c.(1816-1818)atC>atT	p.I606I	SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000389432.2_Intron|SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000389433.2_Silent_p.I587I|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000536845.2_Silent_p.I606I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	606					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCCCAGAAATCACACCTAAAG	0.368000													22	31					0	0	0.001523	0	0
CNTN6	27255	broad.mit.edu	37	3	1418760	1418760	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:1418760G>A	ENST00000446702.2	+	17	2793		c.e17+1		CNTN6_ENST00000539053.1_Splice_Site|CNTN6_ENST00000350110.2_Splice_Site			Q9UQ52	CNTN6_HUMAN	contactin 6						axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TACGTGGGAGGTAATTTTCTG	0.393000													33	45					0	0	0.002836	0	0
MYO5C	55930	broad.mit.edu	37	15	52497080	52497080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:52497080C>T	ENST00000261839.7	-	38	4963	c.4802G>A	c.(4801-4803)aGa>aAa	p.R1601K	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1601	Dilute.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATCCCTTTTCTGCAGGAGCA	0.602000													6	19					0	0	0.001984	0	0
RBBP8	5932	broad.mit.edu	37	18	20570914	20570914	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:20570914C>T	ENST00000399722.2	+	10	1173	c.822C>T	c.(820-822)ccC>ccT	p.P274P	RBBP8_ENST00000360790.5_Silent_p.P274P|RBBP8_ENST00000399725.2_Silent_p.P274P|RBBP8_ENST00000585177.1_3'UTR|RBBP8_ENST00000327155.5_Silent_p.P274P	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	274					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CTCAAGGTCCCATGAGCCCCC	0.383000								Homologous recombination					6	10					0	0	0.001168	0	0
SNHG14	104472715	broad.mit.edu	37	15	25225189	25225189	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:25225189C>T	ENST00000551631.2	+	0	182					NR_001293.1																						AACCTGTTTTCAGGACCTTTT	0.378000													4	5					0	0	0.000248	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175481	143175481	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:143175481G>A	ENST00000408916.1	+	1	516	c.516G>A	c.(514-516)tgG>tgA	p.W172*	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	172					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCTACAAGTGGAATACAAGGA	0.343000													13	52					0	0	0.001855	0	0
NR5A2	2494	broad.mit.edu	37	1	200080356	200080356	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:200080356G>A	ENST00000367362.3	+	6	1383	c.1137G>A	c.(1135-1137)caG>caA	p.Q379Q	NR5A2_ENST00000236914.3_Silent_p.Q333Q|NR5A2_ENST00000544748.1_Silent_p.Q307Q	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	379	Ligand-binding.				embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AGCTGCTTCAGAACTGCTGGA	0.388000													34	36					0	0	0.001485	0	0
GABRB1	2560	broad.mit.edu	37	4	47408899	47408899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:47408899C>T	ENST00000295454.3	+	8	1328	c.1036C>T	c.(1036-1038)Cag>Tag	p.Q346*	GABRB1_ENST00000538619.1_Nonsense_Mutation_p.Q276*	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	346					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			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAAACAAGACCAGAGTGCCAA	0.373000													18	22					0	0	0.004990	0	0
GLIS1	148979	broad.mit.edu	37	1	54060297	54060297	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:54060297G>A	ENST00000312233.2	-	3	845	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	93					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GAGACGTCTGGGAGGAGCGGA	0.677000													7	34					0	0	0.003080	0	0
SP140L	93349	broad.mit.edu	37	2	231256802	231256802	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:231256802G>A	ENST00000243810.6	+	12	965	c.964_splice	c.e12-1	p.G322_splice	SP140L_ENST00000415673.2_Splice_Site_p.G322_splice|SP140L_ENST00000396563.4_Splice_Site_p.G287_splice|SP140L_ENST00000444636.1_Splice_Site_p.G322_splice			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	322	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGTCTTACAGGAACCTTGGCA	0.488000													20	28					0	0	0.001523	0	0
OR4K13	390433	broad.mit.edu	37	14	20502725	20502725	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20502725T>C	ENST00000315693.2	-	1	194	c.193A>G	c.(193-195)Aac>Gac	p.N65D		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAGGAGAGGTTGCTAAGCAGA	0.458000													19	21					0	0	0.002299	0	0
LRIT1	26103	broad.mit.edu	37	10	85997366	85997366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:85997366C>T	ENST00000372105.3	-	2	220	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	67						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCGTCCGCTCCAGGCGCAGT	0.667000													23	32					0	0	0.003330	0	0
CNTN1	1272	broad.mit.edu	37	12	41333159	41333159	+	Missense_Mutation	SNP	G	G	A	rs145510600	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:41333159G>A	ENST00000551295.2	+	12	1368	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	CNTN1_ENST00000347616.1_Missense_Mutation_p.M417I|CNTN1_ENST00000348761.2_Missense_Mutation_p.M406I|CNTN1_ENST00000360099.3_Missense_Mutation_p.M417I|CNTN1_ENST00000547849.1_Missense_Mutation_p.M417I|CNTN1_ENST00000547702.1_Missense_Mutation_p.M417I	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	417	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTTTTGAAATGAATCCTATGA	0.358000													12	26					0	0	0.003163	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465622	24465622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:24465622C>T	ENST00000382137.3	-	3	876	c.808G>A	c.(808-810)Gga>Aga	p.G270R	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G270R|C1QTNF9B_ENST00000382145.1_Silent_p.T98T|C1QTNF9B_ENST00000382057.3_Silent_p.T98T|C1QTNF9B_ENST00000556521.1_5'UTR	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	270	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						ATTTTTACTCCGTTTTTGACC	0.502000													23	16					0	0	0.003330	0	0
MTPAP	55149	broad.mit.edu	37	10	30658255	30658255	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:30658255C>T	ENST00000488290.1	-	3	325		c.e3+1					Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TCAGGTCTCACCTCCTCTGAC	0.493000													5	15					0	0	0.001168	0	0
LMTK2	22853	broad.mit.edu	37	7	97822385	97822385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:97822385C>T	ENST00000297293.5	+	11	2901	c.2608C>T	c.(2608-2610)Ctc>Ttc	p.L870F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	870					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGTTGAAATTCTCTCAACTGA	0.547000													32	9					0	0	0.002445	0	0
NOX3	50508	broad.mit.edu	37	6	155757582	155757582	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:155757582G>A	ENST00000159060.2	-	7	870	c.768C>T	c.(766-768)ccC>ccT	p.P256P		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	256	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ATTGAGGCACGGGGCATTGGG	0.463000													28	49					0	0	0.002445	0	0
TPO	7173	broad.mit.edu	37	2	1544401	1544401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1544401C>T	ENST00000345913.4	+	16	2745	c.2654C>T	c.(2653-2655)tCg>tTg	p.S885L	TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S841L|TPO_ENST00000349624.3_Missense_Mutation_p.S712L|TPO_ENST00000337415.3_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.S828L|TPO_ENST00000329066.4_Missense_Mutation_p.S885L|TPO_ENST00000382198.1_Missense_Mutation_p.S712L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	885					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTGCCCATCTCGGAGACAGGC	0.642000													19	25					0	0	0.001216	0	0
OR5D16	390144	broad.mit.edu	37	11	55606540	55606540	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55606540T>A	ENST00000378396.1	+	1	313	c.313T>A	c.(313-315)Ttc>Atc	p.F105I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCAATTCTTTTTCTTTTGCAC	0.423000													60	94					0	0	0.003610	0	0
OR2G3	81469	broad.mit.edu	37	1	247769715	247769715	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247769715C>T	ENST00000320002.2	+	1	860	c.828C>T	c.(826-828)ctC>ctT	p.L276L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTATCTCCCTCTTCTACACCA	0.438000													31	34					0	0	0.001786	0	0
CEP57L1	285753	broad.mit.edu	37	6	109468002	109468002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:109468002C>T	ENST00000521277.1	+	4	727	c.202C>T	c.(202-204)Cgt>Tgt	p.R68C	CEP57L1_ENST00000368970.2_Missense_Mutation_p.R68C|CEP57L1_ENST00000521522.1_Missense_Mutation_p.R68C|CEP57L1_ENST00000368968.2_Missense_Mutation_p.R68C|CEP57L1_ENST00000336977.4_Intron|CEP57L1_ENST00000520883.1_Intron|CEP57L1_ENST00000407272.1_Missense_Mutation_p.R68C|CEP57L1_ENST00000519095.1_Missense_Mutation_p.R68C|CEP57L1_ENST00000517392.1_Missense_Mutation_p.R68C|CEP57L1_ENST00000359793.3_Missense_Mutation_p.R68C|CEP57L1_ENST00000523787.1_Missense_Mutation_p.R71C			Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	68						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAAAATTCATCGTTTAGAGCT	0.333000													14	14					0	0	0.003163	0	0
MYO9A	4649	broad.mit.edu	37	15	72190967	72190967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:72190967G>A	ENST00000356056.5	-	25	4349	c.3877C>T	c.(3877-3879)Cgt>Tgt	p.R1293C	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1293C|MYO9A_ENST00000566885.1_Missense_Mutation_p.R913C|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1293C|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1274C	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1293	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAAGAGAACGAACTTTCAGC	0.463000													36	39					0	0	0.002836	0	0
AMICA1	120425	broad.mit.edu	37	11	118067453	118067453	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:118067453G>A	ENST00000292067.7	-	8	1500	c.1059C>T	c.(1057-1059)acC>acT	p.T353T	AMICA1_ENST00000356289.5_Silent_p.T363T|AMICA1_ENST00000526620.1_Silent_p.T324T|AMICA1_ENST00000533261.1_Silent_p.T352T	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	363					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TTCTCACCATGGTCATGTAGG	0.542000													39	58					0	0	0.002222	0	0
COL4A4	1286	broad.mit.edu	37	2	227963448	227963448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:227963448G>A	ENST00000396625.3	-	19	1373	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P389L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	389	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GAGACCTGGGGGACCAGGTGG	0.557000													11	26					0	0	0.001368	0	0
EVPL	2125	broad.mit.edu	37	17	74003456	74003456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:74003456G>A	ENST00000301607.3	-	22	6083	c.5830C>T	c.(5830-5832)Ctc>Ttc	p.L1944F	EVPL_ENST00000586740.1_Missense_Mutation_p.L1966F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1944	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGTCGATGAGCCCCCCGGTC	0.672000													20	5					0	0	0.002299	0	0
C1orf65	164127	broad.mit.edu	37	1	223568531	223568531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:223568531G>A	ENST00000366875.3	+	1	1817	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	572										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGAGCAGAGGGTGCAGCACAT	0.532000													20	37					0	0	0.000958	0	0
PERP	64065	broad.mit.edu	37	6	138417525	138417525	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:138417525G>A	ENST00000421351.3	-	2	491	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	107					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TCACTCTCAGGAAGACAAGCA	0.502000													19	24					0	0	0.002780	0	0
ITPR1	3708	broad.mit.edu	37	3	4735411	4735411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:4735411G>A	ENST00000302640.8	+	32	4572	c.4222G>A	c.(4222-4224)Gac>Aac	p.D1408N	ITPR1_ENST00000443694.2_Missense_Mutation_p.D1408N|ITPR1_ENST00000456211.2_Missense_Mutation_p.D1399N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D1414N|ITPR1_ENST00000423119.2_Missense_Mutation_p.D1414N|ITPR1_ENST00000354582.6_Missense_Mutation_p.D1423N|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1423					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GACCCACGAGGACTGCATCCC	0.602000													4	10					0	0	0.000602	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203180	140203180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140203180C>T	ENST00000529859.1	+	1	1820	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	PCDHA5_ENST00000529619.1_Missense_Mutation_p.S607L|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S607L	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGGCTTTCGTATGAGCTG	0.652000													21	10					0	0	0.002299	0	0
PZP	5858	broad.mit.edu	37	12	9316298	9316298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:9316298C>T	ENST00000261336.2	-	21	2730	c.2702G>A	c.(2701-2703)aGa>aAa	p.R901K	PZP_ENST00000381997.2_Intron|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGTGTCTTTTCTTTTAATCTC	0.443000													22	41					0	0	0.003954	0	0
ULK4	54986	broad.mit.edu	37	3	41954347	41954347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:41954347G>A	ENST00000301831.4	-	9	1310	c.848C>T	c.(847-849)gCt>gTt	p.A283V	ULK4_ENST00000420927.1_Missense_Mutation_p.A283V	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	283							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCCAGCAAAAGCTTTCTTCCA	0.368000													29	33					0	0	0.003755	0	0
SYNE1	23345	broad.mit.edu	37	6	152711425	152711425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152711425G>A	ENST00000367255.5	-	53	8768	c.8167C>T	c.(8167-8169)Cac>Tac	p.H2723Y	SYNE1_ENST00000341594.5_Missense_Mutation_p.H2762Y|SYNE1_ENST00000448038.1_Missense_Mutation_p.H2730Y|SYNE1_ENST00000265368.4_Missense_Mutation_p.H2723Y|SYNE1_ENST00000423061.1_Missense_Mutation_p.H2730Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2723					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)		CTTTGAGCGTGGACGGAGGAG	0.453000										HNSCC(10;0.0054)			25	29					0	0	0.001271	0	0
PALM	5064	broad.mit.edu	37	19	746432	746432	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:746432A>C	ENST00000264560.7	+	8	844	c.650A>C	c.(649-651)gAg>gCg	p.E217A	PALM_ENST00000338448.5_Missense_Mutation_p.E261A|PALM_ENST00000606643.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	261					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		GGGGCTGTGGAGGGGGCAGCC	0.741000													8	15					0	0	0.004482	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882225	228882225	+	Silent	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228882225A>C	ENST00000392056.3	-	7	3391	c.3345T>G	c.(3343-3345)tcT>tcG	p.S1115S	SPHKAP_ENST00000344657.5_Silent_p.S1115S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1115						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTTGGAGACAGAGCTGGCCC	0.552000													13	19					0	0	0.002450	0	0
FAM220A	84792	broad.mit.edu	37	7	6370637	6370637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:6370637G>A	ENST00000313324.4	-	2	616	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN	family with sequence similarity 220, member A	50						nucleus											ATCAACCACAGGCTTATTCAT	0.547000													29	40					0	0	0.002445	0	0
TNIK	23043	broad.mit.edu	37	3	170800066	170800066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:170800066C>T	ENST00000436636.2	-	27	3631	c.3287G>A	c.(3286-3288)gGa>gAa	p.G1096E	TNIK_ENST00000460047.1_Missense_Mutation_p.G1033E|TNIK_ENST00000475336.1_Missense_Mutation_p.G1004E|TNIK_ENST00000470834.1_Missense_Mutation_p.G1059E|TNIK_ENST00000538048.1_Missense_Mutation_p.G1048E|TNIK_ENST00000341852.6_Missense_Mutation_p.G1012E|TNIK_ENST00000284483.8_Missense_Mutation_p.G1088E|TNIK_ENST00000488470.1_Missense_Mutation_p.G1041E|TNIK_ENST00000369326.5_Missense_Mutation_p.G1074E|TNIK_ENST00000357327.5_Missense_Mutation_p.G1067E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1096	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GACATTCAGTCCCTCTAGCAC	0.483000													7	13					0	0	0.003080	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958532	57958532	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:57958532G>A	ENST00000311591.3	+	1	627	c.570G>A	c.(568-570)ggG>ggA	p.G190G		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	190					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)				TCTCCTGTGGGGACAGCTACA	0.443000													23	22					0	0	0.001882	0	0
TRIM15	89870	broad.mit.edu	37	6	30140006	30140006	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:30140006G>A	ENST00000376694.4	+	7	1747	c.1278G>A	c.(1276-1278)gtG>gtA	p.V426V	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	426	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGGGGCAGGTGACCCTCCACA	0.637000													10	9					0	0	0.000443	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19775806	19775806	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:19775806T>C	ENST00000284885.3	-	1	167	c.134A>G	c.(133-135)gAa>gGa	p.E45G		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	45					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						TCGTTGGGATTCCTTGATTGT	0.423000													33	68					0	0	0.005524	0	0
SGSM1	129049	broad.mit.edu	37	22	25264418	25264418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:25264418G>A	ENST00000400358.4	+	11	1127	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	SGSM1_ENST00000400359.4_Missense_Mutation_p.G357E	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	357						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CCCAAGGGCGGGCACCTCCTG	0.642000													23	19					0	0	0.002780	0	0
CFB	629	broad.mit.edu	37	6	31915258	31915258	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:31915258G>A	ENST00000556679.1	+	16	2179	c.2124G>A	c.(2122-2124)caG>caA	p.Q708Q	CFB_ENST00000477310.1_Silent_p.Q557Q|CFB_ENST00000456570.1_Silent_p.Q708Q|CFB_ENST00000425368.2_Silent_p.Q206Q			P00751	CFAB_HUMAN	complement factor B	206	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAACGTGTCAGGAAGGTGGCT	0.617000													73	126					0	0	0.003610	0	0
SAP30	8819	broad.mit.edu	37	4	174292510	174292510	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:174292510C>T	ENST00000296504.3	+	1	417	c.177C>T	c.(175-177)gcC>gcT	p.A59A		NM_003864.3	NP_003855.1	O75446	SAP30_HUMAN	Sin3A-associated protein, 30kDa	59	Ala-rich.|Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		cgggggcggcCGGGCCGGGCC	0.796000													5	4					0	0	0.000602	0	0
KRT1	3848	broad.mit.edu	37	12	53071153	53071153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:53071153C>T	ENST00000252244.3	-	5	1133	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	359	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GCTATATCCTCGTACTGGGCC	0.507000													13	40					0	0	0.001368	0	0
LRP8	7804	broad.mit.edu	37	1	53736906	53736906	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:53736906G>A	ENST00000306052.6	-	7	1220	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	LRP8_ENST00000371454.2_Silent_p.T373T|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000354412.3_Silent_p.T244T|LRP8_ENST00000347547.2_Silent_p.T203T	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	373	EGF-like 1.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CACCGCCACAGGTCTTCTGGT	0.572000													25	51					0	0	0.003954	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021720	51021720	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51021720T>G	ENST00000599957.1	-	3	1447	c.1250A>C	c.(1249-1251)cAt>cCt	p.H417P	LRRC4B_ENST00000389201.3_Missense_Mutation_p.H417P			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	417	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGTGCCGTCATGCAGGACGGA	0.642000													24	10					0	0	0.003954	0	0
SLC14A1	6563	broad.mit.edu	37	18	43316525	43316525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:43316525G>A	ENST00000321925.4	+	6	807	c.575G>A	c.(574-576)gGa>gAa	p.G192E	SLC14A1_ENST00000535474.1_Missense_Mutation_p.G60E|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_Missense_Mutation_p.G87E|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.G248E|SLC14A1_ENST00000586142.1_Missense_Mutation_p.G192E|SLC14A1_ENST00000589700.1_Missense_Mutation_p.G192E|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.G84E|SLC14A1_ENST00000436407.3_Missense_Mutation_p.G248E	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	192						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCAGCCACAGGACATTACAAT	0.468000													35	52					0	0	0.002836	0	0
CPED1	79974	broad.mit.edu	37	7	120737878	120737878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:120737878G>A	ENST00000310396.5	+	6	1209	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	CPED1_ENST00000450913.2_Missense_Mutation_p.E248K|CPED1_ENST00000423795.1_Missense_Mutation_p.E28K	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTGGAGTCGTGAACAGCTGTA	0.438000													29	78					0	0	0.001271	0	0
RTN4R	65078	broad.mit.edu	37	22	20229682	20229682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:20229682G>A	ENST00000043402.7	-	2	1412	c.974C>T	c.(973-975)aCc>aTc	p.T325I		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	325					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					CTCCTCATCGGTGGCCCTGCC	0.662000													11	11					0	0	0.001368	0	0
COL21A1	81578	broad.mit.edu	37	6	56035923	56035923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:56035923G>A	ENST00000244728.5	-	4	1041	c.644C>T	c.(643-645)tCt>tTt	p.S215F	COL21A1_ENST00000370819.1_Missense_Mutation_p.S215F|COL21A1_ENST00000535941.1_Missense_Mutation_p.S215F	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	215					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGGACAGACAGATTCTATAAA	0.313000													45	61					0	0	0.003610	0	0
BLNK	29760	broad.mit.edu	37	10	97976426	97976426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:97976426G>A	ENST00000224337.5	-	7	731	c.590C>T	c.(589-591)tCa>tTa	p.S197L	BLNK_ENST00000427367.2_Missense_Mutation_p.S197L|BLNK_ENST00000371176.2_Missense_Mutation_p.S197L|BLNK_ENST00000413476.2_Missense_Mutation_p.S197L	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	197	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AGGTGGAGGTGAACTGCTTTC	0.383000													17	29					0	0	0.004990	0	0
RASAL1	8437	broad.mit.edu	37	12	113544998	113544998	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:113544998C>T	ENST00000546530.1	-	16	1849	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	RASAL1_ENST00000548055.1_Missense_Mutation_p.E521K|RASAL1_ENST00000261729.5_Missense_Mutation_p.E521K|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.E521K	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	521					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ATCCACAGTTCCTTGCCTTGG	0.617000													8	21					0	0	0.000443	0	0
FAT4	79633	broad.mit.edu	37	4	126372845	126372845	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:126372845C>T	ENST00000394329.3	+	9	10687	c.10674C>T	c.(10672-10674)ttC>ttT	p.F3558F	FAT4_ENST00000335110.5_Silent_p.F1856F	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3558	Cadherin 34.				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						CCAGTTATTTCAGTCTGAGCA	0.483000													33	74					0	0	0.002445	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060226	128060226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:128060226C>T	ENST00000254730.6	+	5	991	c.937C>T	c.(937-939)Cat>Tat	p.H313Y	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Missense_Mutation_p.H258Y	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	313						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GCACACTGTCCATGCGGCCCT	0.592000													14	22					0	0	0.004007	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733799	28733799	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:28733799C>T	ENST00000550043.1	+	0	204																											GGAGGAGAGCCTGCAGGGCTC	0.577000													15	4					0	0	0.003163	0	0
TPO	7173	broad.mit.edu	37	2	1418234	1418234	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1418234C>T	ENST00000345913.4	+	2	145	c.54C>T	c.(52-54)gcC>gcT	p.A18A	TPO_ENST00000337415.3_Silent_p.A18A|TPO_ENST00000346956.3_Silent_p.A18A|TPO_ENST00000539820.1_Silent_p.A18A|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.A18A|TPO_ENST00000382201.3_Silent_p.A18A|TPO_ENST00000382198.1_Silent_p.A18A|TPO_ENST00000329066.4_Silent_p.A18A|TPO_ENST00000382269.3_Silent_p.A18A	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	18					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCACAGAAGCCTTCTTCCCCT	0.448000													15	11					0	0	0.004990	0	0
C6orf165	154313	broad.mit.edu	37	6	88170799	88170799	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:88170799G>A	ENST00000507897.1	+	12	1637	c.1554G>A	c.(1552-1554)caG>caA	p.Q518Q	C6ORF165_ENST00000369562.4_Silent_p.Q518Q|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	518										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GTAGCACACAGACGAATACAC	0.323000													20	35					0	0	0.001523	0	0
CCDC108	255101	broad.mit.edu	37	2	219903154	219903154	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219903154G>A	ENST00000341552.5	-	4	383	c.300C>T	c.(298-300)atC>atT	p.I100I	CCDC108_ENST00000453220.1_Silent_p.I100I|CCDC108_ENST00000441968.1_Silent_p.I100I|CCDC108_ENST00000410037.1_Silent_p.I35I|CCDC108_ENST00000324264.6_Silent_p.I35I|CCDC108_ENST00000295729.2_Silent_p.I35I|CCDC108_ENST00000409865.3_Silent_p.I89I	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	100						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATGGCAGGGATGGCCACTG	0.627000													14	21					0	0	0.003163	0	0
TECTA	7007	broad.mit.edu	37	11	121060560	121060560	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:121060560C>T	ENST00000392793.1	+	23	6609	c.6338C>T	c.(6337-6339)aCc>aTc	p.T2113I	TECTA_ENST00000264037.2_Missense_Mutation_p.T2113I			O75443	TECTA_HUMAN	tectorin alpha	2113					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTAACAGGAACCCTGCAGGAG	0.572000													18	27					0	0	0.001523	0	0
GABBR2	9568	broad.mit.edu	37	9	101073469	101073469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:101073469C>T	ENST00000259455.2	-	14	2371	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	638					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ATGGAGATATCCCGTCCTGCT	0.547000													27	3					0	0	0.001786	0	0
ZNF501	115560	broad.mit.edu	37	3	44776715	44776715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:44776715C>T	ENST00000396048.2	+	3	1239	c.802C>T	c.(802-804)Cat>Tat	p.H268Y		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TCAGAGGCTTCATGCTGGAGA	0.383000													25	27					0	0	0.005443	0	0
RGPD3	653489	broad.mit.edu	37	2	107041256	107041256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:107041256C>T	ENST00000409886.3	-	20	3254	c.3167G>A	c.(3166-3168)gGt>gAt	p.G1056D	RGPD3_ENST00000304514.7_Missense_Mutation_p.G1056D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1056	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AACTTTTTCACCTTCTTCTCC	0.383000													72	203					0	0	0.003610	0	0
OR4K1	79544	broad.mit.edu	37	14	20404664	20404664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20404664C>T	ENST00000285600.4	+	1	898	c.839C>T	c.(838-840)cCc>cTc	p.P280L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTTTGTACTCCCTTGTTGAAC	0.418000													38	48					0	0	0.005524	0	0
APOB	338	broad.mit.edu	37	2	21245886	21245886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:21245886G>A	ENST00000233242.1	-	18	2760	c.2633C>T	c.(2632-2634)tCc>tTc	p.S878F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	878					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACAGACACGGAGGGTTTTGC	0.478000													163	162					0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41452109	41452109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41452109C>T	ENST00000400454.1	-	25	4867	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1464	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCTATGATTTCACTTATGCGC	0.458000													44	51					0	0	0.003610	0	0
OR51F2	119694	broad.mit.edu	37	11	4843444	4843444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4843444C>T	ENST00000322110.5	+	1	894	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTGTCCATCGCTATGGCCA	0.468000													38	50					0	0	0.001287	0	0
POTEE	445582	broad.mit.edu	37	2	131976461	131976461	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:131976461G>A	ENST00000356920.5	+	1	580	c.486G>A	c.(484-486)agG>agA	p.R162R	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.R162R|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	162							ATP binding										TCATGCTCAGGGACACTGACG	0.587000													27	116					0	0	0.004878	0	0
ALB	213	broad.mit.edu	37	4	74274503	74274503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:74274503G>A	ENST00000295897.4	+	4	552	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	ALB_ENST00000401494.3_Intron|ALB_ENST00000503124.1_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.E155K|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	155	Albumin 1.			E -> Q (in Ref. 18; AA sequence).	bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TCATGACAATGAAGAGACATT	0.368000													11	17					0	0	0.000978	0	0
CCDC93	54520	broad.mit.edu	37	2	118698861	118698861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:118698861G>A	ENST00000376300.2	-	19	1563	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	CCDC93_ENST00000319432.5_Nonsense_Mutation_p.R475*	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	476										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GCTATTTCTCGATTTCTTCGA	0.443000													20	29					0	0	0.001882	0	0
DACT3	147906	broad.mit.edu	37	19	47151937	47151937	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:47151937G>A	ENST00000391916.2	-	4	1765	c.1692C>T	c.(1690-1692)tcC>tcT	p.S564S	DACT3_ENST00000300875.4_Silent_p.S339S	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	564										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		CTGAGTCGCTGGAGGCAGAGC	0.751000													16	22					0	0	0.004007	0	0
IKBKE	9641	broad.mit.edu	37	1	206652286	206652286	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:206652286G>A	ENST00000367120.3	+	10	1366	c.992_splice	c.e10-1	p.T331_splice	IKBKE_ENST00000537984.1_Splice_Site_p.T246_splice|IKBKE_ENST00000462698.1_3'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	331					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CTGTGTCTAGGATAGCCATTT	0.622000													30	71					0	0	0.001485	0	0
GRID2	2895	broad.mit.edu	37	4	94137989	94137989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:94137989G>A	ENST00000282020.4	+	6	1148	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	GRID2_ENST00000510992.1_Missense_Mutation_p.R202Q|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	297					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATAAGTCAGCGGTGTTTCCGT	0.398000													54	55					0	0	0.003610	0	0
TPPP	11076	broad.mit.edu	37	5	677968	677968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:677968C>T	ENST00000360578.5	-	2	329	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	70	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCGTGCATCTCCCTCCCGGTG	0.652000													13	19					0	0	0.001855	0	0
COL6A6	131873	broad.mit.edu	37	3	130285982	130285982	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:130285982G>A	ENST00000358511.6	+	4	1750	c.1719G>A	c.(1717-1719)aaG>aaA	p.K573K	COL6A6_ENST00000453409.2_Silent_p.K573K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	573	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCGGGATCAAGGAGGCCAACC	0.448000													49	72					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9063951	9063951	+	Missense_Mutation	SNP	C	C	T	rs144610010	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9063951C>T	ENST00000397910.4	-	3	23698	c.23495G>A	c.(23494-23496)gGa>gAa	p.G7832E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7834	Ser-rich.|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						CTCCCTCAATCCAGGGGTCAG	0.547000													15	37					0	0	0.002450	0	0
TRPC4	7223	broad.mit.edu	37	13	38357147	38357147	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:38357147G>A	ENST00000379705.3	-	2	1181	c.324C>T	c.(322-324)gtC>gtT	p.V108V	TRPC4_ENST00000355779.2_Silent_p.V108V|TRPC4_ENST00000358477.2_Silent_p.V108V|TRPC4_ENST00000338947.5_Silent_p.V108V|TRPC4_ENST00000426868.2_Silent_p.V108V|TRPC4_ENST00000379673.2_Silent_p.V108V|TRPC4_ENST00000379679.1_Silent_p.V108V|TRPC4_ENST00000447043.1_Silent_p.V108V|TRPC4_ENST00000379681.3_Silent_p.V108V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	108	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGCTCCGACGACTTCTTTTC	0.363000													74	41					0	0	0.003610	0	0
KIF22	3835	broad.mit.edu	37	16	29814139	29814139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:29814139C>T	ENST00000561482.1	+	9	1763	c.1126C>T	c.(1126-1128)Ctc>Ttc	p.L376F	KIF22_ENST00000400751.5_Missense_Mutation_p.L376F|KIF22_ENST00000160827.4_Missense_Mutation_p.L444F|KIF22_ENST00000569382.2_Missense_Mutation_p.L376F|KIF22_ENST00000400750.2_5'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	444					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GGAGCGCCTCCTCAGCTTGGA	0.602000													21	43					0	0	0.002780	0	0
PCDHB12	56124	broad.mit.edu	37	5	140588741	140588741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:140588741G>A	ENST00000239450.2	+	1	451	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		88	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGAGAGAAATGCTAGA	0.488000													32	11					0	0	0.002836	0	0
DPP10	57628	broad.mit.edu	37	2	116497382	116497382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:116497382G>A	ENST00000410059.1	+	9	1245	c.765G>A	c.(763-765)atG>atA	p.M255I	DPP10_ENST00000310323.8_Missense_Mutation_p.M248I|DPP10_ENST00000409163.1_Missense_Mutation_p.M205I|DPP10_ENST00000393147.2_Missense_Mutation_p.M259I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	255					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTTCCTGATGATAAATGACT	0.453000													37	42					0	0	0.005524	0	0
SLC5A1	6523	broad.mit.edu	37	22	32506127	32506127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:32506127G>A	ENST00000266088.4	+	15	2172	c.1922G>A	c.(1921-1923)tGg>tAg	p.W641*	SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.W514*	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	641					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AAGCCTTTGTGGAGGACAGTG	0.488000													26	47					0	0	0.004656	0	0
IBSP	3381	broad.mit.edu	37	4	88732595	88732595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:88732595G>A	ENST00000226284.5	+	7	554	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	163	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification			p.E163K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		aaatgaaaacgaagaaagcga	0.453000													4	8					0	0	0.000248	0	0
IL2RA	3559	broad.mit.edu	37	10	6067912	6067912	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:6067912C>T	ENST00000379959.3	-	2	314	c.141G>A	c.(139-141)ttG>ttA	p.L47L	IL2RA_ENST00000379954.1_Silent_p.L47L|IL2RA_ENST00000256876.6_Silent_p.L47L	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	47	Sushi 1.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ATTCACAGTTCAACATGGTTC	0.488000													25	41					0	0	0.004656	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10418888	10418888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:10418888G>A	ENST00000403903.3	-	1	1668	c.470C>T	c.(469-471)tCc>tTc	p.S157F	CTD-2369P2.10_ENST00000452032.2_3'UTR|ZGLP1_ENST00000403352.1_Missense_Mutation_p.S73F|FDX1L_ENST00000541276.1_3'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	157					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						CTGCAGGCTGGAGTCCGGCTT	0.627000													37	34					0	0	0.002852	0	0
TTN	7273	broad.mit.edu	37	2	179669288	179669288	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179669288G>A	ENST00000589042.1	-	2	306	c.82C>T	c.(82-84)Cac>Tac	p.H28Y	TTN_ENST00000360870.5_Missense_Mutation_p.H28Y|TTN_ENST00000460472.2_Missense_Mutation_p.H28Y|TTN_ENST00000591111.1_Missense_Mutation_p.H28Y|TTN_ENST00000359218.5_Missense_Mutation_p.H28Y|TTN_ENST00000342992.6_Missense_Mutation_p.H28Y|TTN_ENST00000342175.6_Missense_Mutation_p.H28Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28	Ig-like 1.						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)			CCACTAATGTGAGCCTCAAAG	0.458000													5	18					0	0	0.000602	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45553706	45553706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:45553706G>A	ENST00000359600.5	-	2	1004	c.799C>T	c.(799-801)Cct>Tct	p.P267S		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	267							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCGGAGATAGGAAGACGCAAT	0.448000													48	65					0	0	0.003610	0	0
FAM73A	374986	broad.mit.edu	37	1	78309083	78309083	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:78309083C>T	ENST00000370791.3	+	8	1019	c.987C>T	c.(985-987)tcC>tcT	p.S329S	FAM73A_ENST00000443751.2_Silent_p.S291S	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	329						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CCTTTGCTTCCGCAGCAGAGG	0.413000													35	36					0	0	0.004289	0	0
COL4A3	1285	broad.mit.edu	37	2	228137698	228137698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:228137698C>T	ENST00000396578.3	+	26	1954	c.1792C>T	c.(1792-1794)Cca>Tca	p.P598S	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	598	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)		CCAAGGTCCTCCAGGGGATCC	0.562000													16	24					0	0	0.004990	0	0
TMCO4	255104	broad.mit.edu	37	1	20107099	20107099	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:20107099G>A	ENST00000294543.6	-	4	394	c.153C>T	c.(151-153)tcC>tcT	p.S51S	TMCO4_ENST00000375127.1_Silent_p.S51S|TMCO4_ENST00000375122.2_Silent_p.S51S	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	51						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GAAATAACTGGGACAGGGAGA	0.597000													17	15					0	0	0.001216	0	0
CILP2	148113	broad.mit.edu	37	19	19653703	19653703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:19653703C>T	ENST00000586018.1	+	6	1019	c.917C>T	c.(916-918)tCc>tTc	p.S306F	CILP2_ENST00000291495.4_Missense_Mutation_p.S300F			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	300	Ig-like C2-type.					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CACCCTGAGTCCCGAGTGCGA	0.602000													33	49					0	0	0.001287	0	0
WNT7A	7476	broad.mit.edu	37	3	13860868	13860868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:13860868G>A	ENST00000285018.4	-	4	927	c.623C>T	c.(622-624)tCg>tTg	p.S208L		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	208					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						GGTGGTGCACGAGCCTGACAC	0.602000													38	51					0	0	0.001287	0	0
MARCH4	57574	broad.mit.edu	37	2	217124188	217124188	+	Silent	SNP	G	G	A	rs144064965		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:217124188G>A	ENST00000273067.4	-	4	2846	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	360						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCTGGGCAGGGCCCTGCTCAG	0.642000													24	23					0	0	0.005443	0	0
ASXL3	80816	broad.mit.edu	37	18	31318971	31318971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:31318971G>A	ENST00000269197.5	+	11	1603	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGTTGTTATCGATCAGTTAGA	0.393000													8	10					0	0	0.003080	0	0
CCDC172	374355	broad.mit.edu	37	10	118084575	118084575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:118084575G>A	ENST00000333254.3	+	2	303	c.52G>A	c.(52-54)Gag>Aag	p.E18K	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		GCATCAGGCGGAGGAGAGTCG	0.517000													18	28					0	0	0.002299	0	0
SNORD115-43	100033817	broad.mit.edu	37	15	25494412	25494412	+	RNA	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:25494412A>T	ENST00000365503.1	+	0	68					NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1																						GCTCAATAGGATTACGCTGAG	0.493000													75	109					0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48619044	48619044	+	Missense_Mutation	SNP	G	G	A	rs146418495		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:48619044G>A	ENST00000328333.8	-	49	4851	c.4744C>T	c.(4744-4746)Cct>Tct	p.P1582S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1582S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1582	Triple-helical region.				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)		GGGTCTCCAGGAAGAACCAAG	0.567000													18	29					0	0	0.000958	0	0
CWC15	51503	broad.mit.edu	37	11	94696570	94696570	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:94696570T>A	ENST00000279839.6	-	8	789	c.667A>T	c.(667-669)Atg>Ttg	p.M223L	CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein homolog (S. cerevisiae)	224					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATTTCTCCATGAACTTTTTG	0.299000													8	14					0	0	0.000443	0	0
NOS1AP	9722	broad.mit.edu	37	1	162336938	162336938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:162336938C>T	ENST00000493151.1	+	2	2684	c.317C>T	c.(316-318)tCg>tTg	p.S106L	NOS1AP_ENST00000361897.5_Missense_Mutation_p.S401L|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.S87L|NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000530878.1_Missense_Mutation_p.S396L	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	401	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GACCTGCATTCGCCGCCGCTG	0.657000													62	38					0	0	0.003610	0	0
HRNR	388697	broad.mit.edu	37	1	152193735	152193735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152193735C>T	ENST00000368801.2	-	3	445	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	124					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAAGAGGATTCTTGCCGTTTG	0.433000													35	101					0	0	0.004289	0	0
CDH20	28316	broad.mit.edu	37	18	59221488	59221488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:59221488G>A	ENST00000262717.4	+	12	2364	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	CDH20_ENST00000536675.2_Missense_Mutation_p.E656K|CDH20_ENST00000538374.1_Missense_Mutation_p.E656K			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	656					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E656Q(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CGACGACGAGGAAAACATCCA	0.587000													29	46					0	0	0.002445	0	0
OR10P1	121130	broad.mit.edu	37	12	56031264	56031264	+	Missense_Mutation	SNP	G	G	A	rs141032808	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:56031264G>A	ENST00000309675.2	+	1	621	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCACAGGAGCGAGATCTCCGT	0.532000													35	45					0	0	0.003755	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558447	53558447	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:53558447G>A	ENST00000371494.4	-	7	937	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	270						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	ACACAATGCCGAAGGGGAAAT	0.672000													16	24					0	0	0.004990	0	0
USP19	10869	broad.mit.edu	37	3	49149063	49149063	+	Silent	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:49149063A>C	ENST00000453664.1	-	21	3369	c.3051T>G	c.(3049-3051)ctT>ctG	p.L1017L	USP19_ENST00000398896.1_Silent_p.L734L|USP19_ENST00000417901.1_Silent_p.L1029L|USP19_ENST00000398892.3_Silent_p.L966L|USP19_ENST00000434032.2_Silent_p.L1027L|USP19_ENST00000398898.2_Silent_p.L966L|USP19_ENST00000398888.2_Silent_p.L926L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	926					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACACCCGGGGAAGCCCTGTGT	0.642000													10	22					0	0	0.000978	0	0
TRIM32	22954	broad.mit.edu	37	9	119460032	119460032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:119460032C>T	ENST00000450136.1	+	2	172	c.11C>T	c.(10-12)gCa>gTa	p.A4V	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.A4V	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	4	Poly-Ala.				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						ATGGCTGCAGCAGCAGCTTCT	0.522000													17	3					0	0	0.006122	0	0
SPRED1	161742	broad.mit.edu	37	15	38643766	38643766	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:38643766C>T	ENST00000299084.4	+	7	2096	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	412	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTTTGTCTTTCATTGTACCAT	0.488000									Legius syndrome				52	68					0	0	0.003610	0	0
DPYD	1806	broad.mit.edu	37	1	98039398	98039398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:98039398C>T	ENST00000370192.3	-	11	1357	c.1257G>A	c.(1255-1257)tgG>tgA	p.W419*		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	419					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CATCTTCATTCCATTTTCCAG	0.453000													44	50					0	0	0.003610	0	0
CNTN1	1272	broad.mit.edu	37	12	41316077	41316077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:41316077G>A	ENST00000551295.2	+	5	364	c.247G>A	c.(247-249)Gac>Aac	p.D83N	CNTN1_ENST00000347616.1_Missense_Mutation_p.D83N|CNTN1_ENST00000348761.2_Missense_Mutation_p.D72N|CNTN1_ENST00000360099.3_Missense_Mutation_p.D83N|CNTN1_ENST00000547849.1_Missense_Mutation_p.D83N|CNTN1_ENST00000547702.1_Missense_Mutation_p.D83N	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	83	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAATAATGGGGACGTTGATCT	0.388000													22	20					0	0	0.004656	0	0
OR9G4	283189	broad.mit.edu	37	11	56510579	56510579	+	Missense_Mutation	SNP	G	G	A	rs142738268	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:56510579G>A	ENST00000302957.3	-	1	708	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L237F(1)		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						ATAGCCAGGAGGATGTTGACA	0.483000													28	53					0	0	0.005443	0	0
RASGRP2	10235	broad.mit.edu	37	11	64508499	64508499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64508499C>T	ENST00000377494.1	-	4	1214	c.292G>A	c.(292-294)Gag>Aag	p.E98K	RASGRP2_ENST00000354024.3_Missense_Mutation_p.E98K|RASGRP2_ENST00000377489.1_Missense_Mutation_p.E98K|RASGRP2_ENST00000394430.1_Missense_Mutation_p.E98K|RASGRP2_ENST00000377486.3_Missense_Mutation_p.E98K|RASGRP2_ENST00000394432.3_Missense_Mutation_p.E98K|RASGRP2_ENST00000377497.3_Missense_Mutation_p.E98K|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000394428.1_3'UTR|RASGRP2_ENST00000377487.1_Missense_Mutation_p.E98K			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	98	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGATCTGCTCAGCCAACTCC	0.597000											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	7					0	0	0.001984	0	0
SYNE1	23345	broad.mit.edu	37	6	152523006	152523006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152523006G>A	ENST00000367255.5	-	127	23699	c.23098C>T	c.(23098-23100)Ctc>Ttc	p.L7700F	SYNE1_ENST00000356820.4_Missense_Mutation_p.L2224F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7312F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7629F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7700F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7629F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7700					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)		TGATCCGGGAGAGACTGCGAA	0.433000										HNSCC(10;0.0054)			26	61					0	0	0.004656	0	0
BCL2L14	79370	broad.mit.edu	37	12	12232669	12232669	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:12232669G>A	ENST00000266434.4	+	2	625	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	BCL2L14_ENST00000396369.1_Missense_Mutation_p.E144K|BCL2L14_ENST00000586576.1_Missense_Mutation_p.E177K|BCL2L14_ENST00000396367.1_Missense_Mutation_p.E144K|BCL2L14_ENST00000589718.1_Missense_Mutation_p.E144K|BCL2L14_ENST00000308721.5_Missense_Mutation_p.E144K	NM_030766.1	NP_110393.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	144					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		CTTGGAGCATGAAGGTAGGCA	0.493000													28	50					0	0	0.001512	0	0
C1orf61	10485	broad.mit.edu	37	1	156374372	156374372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156374372G>A	ENST00000368243.1	-	7	561	c.445C>T	c.(445-447)Cat>Tat	p.H149Y		NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61	149						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					CCAACCAGATGAAGTACATTC	0.423000													19	42					0	0	0.001216	0	0
ASXL3	80816	broad.mit.edu	37	18	31323770	31323770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:31323770G>A	ENST00000269197.5	+	12	3958	c.3958G>A	c.(3958-3960)Gat>Aat	p.D1320N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1320	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCCATGGATGATAAGCAGTT	0.453000													74	100					0	0	0.003610	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644247	37644247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:37644247G>A	ENST00000356958.4	-	5	812	c.554C>T	c.(553-555)cCc>cTc	p.P185L	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.P130L|ZNF585A_ENST00000355533.2_Missense_Mutation_p.P130L|ZNF585A_ENST00000392157.2_Missense_Mutation_p.P130L			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATTTAAAGGGTTTCTCTCT	0.403000													42	58					0	0	0.001951	0	0
TTLL9	164395	broad.mit.edu	37	20	30475014	30475014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30475014G>A	ENST00000375938.4	+	3	338	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	TTLL9_ENST00000375921.2_5'UTR|TTLL9_ENST00000375922.4_Intron|TTLL9_ENST00000310998.4_5'UTR|TTLL9_ENST00000535842.1_Missense_Mutation_p.G29S|TTLL9_ENST00000375934.4_Missense_Mutation_p.G11S			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	29					protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAATTACAAGGGCCATGGATT	0.443000													25	32					0	0	0.002096	0	0
COL9A3	1299	broad.mit.edu	37	20	61463533	61463533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:61463533G>A	ENST00000343916.3	+	25	1318	c.1315G>A	c.(1315-1317)Gga>Aga	p.G439R		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	439	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.G439R(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					AGGCCCTAAGGGAGACCAGGT	0.627000													10	7					0	0	0.003163	0	0
TMTC1	83857	broad.mit.edu	37	12	29725121	29725121	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:29725121G>A	ENST00000256062.5	-	9	1598	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	TMTC1_ENST00000381224.2_Silent_p.A437A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Intron|TMTC1_ENST00000551659.1_Silent_p.A545A|TMTC1_ENST00000539277.1_Silent_p.A483A	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	483						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGTGAACCTTGGCATTGTGGG	0.388000													27	38					0	0	0.002096	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395104	3395104	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:3395104A>C	ENST00000378378.4	+	12	2147	c.1742A>C	c.(1741-1743)cAc>cCc	p.H581P	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.H293P|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.H293P|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.H285P	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	581	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TCCGTGCCCCACCCCTTCCAG	0.667000													17	23					0	0	0.001523	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279728	17279728	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:17279728G>A	ENST00000253692.7	-	17	3179	c.1515C>T	c.(1513-1515)agC>agT	p.S505S	TBC1D5_ENST00000429924.2_Silent_p.S457S|TBC1D5_ENST00000429383.4_Silent_p.S505S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Silent_p.S505S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	505						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						GCAAGTGATGGCTTGGGGCCT	0.498000													21	30					0	0	0.001882	0	0
NBPF1	55672	broad.mit.edu	37	1	16892227	16892227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:16892227G>A	ENST00000430580.2	-	27	3852	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	989	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAACTGGAAGGAGTTGAATAA	0.473000													66	1638					0	0	0.002445	0	0
CEP164	22897	broad.mit.edu	37	11	117252422	117252422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:117252422C>T	ENST00000278935.3	+	13	1562	c.1415C>T	c.(1414-1416)tCt>tTt	p.S472F	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	472	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACCAGGTTATCTCCTCCACTT	0.647000													4	9					0	0	0.000602	0	0
AGRN	375790	broad.mit.edu	37	1	984992	984992	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:984992C>T	ENST00000379370.2	+	26	4611	c.4561C>T	c.(4561-4563)Cgt>Tgt	p.R1521C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1521	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGGTGCATCCGTTTGCTGGA	0.716000													4	3					0	0	0.000248	0	0
DPY19L4	286148	broad.mit.edu	37	8	95793318	95793318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:95793318C>T	ENST00000414645.2	+	16	1738	c.1639C>T	c.(1639-1641)Ccc>Tcc	p.P547S		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	547						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TTAGTTTTTTCCCAGATTAAT	0.318000													114	108					0	0	0.003610	0	0
IQCA1	79781	broad.mit.edu	37	2	237233337	237233337	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:237233337C>T	ENST00000409907.3	-	19	2737	c.2463G>A	c.(2461-2463)agG>agA	p.R821R	IQCA1_ENST00000309507.5_Silent_p.R818R|IQCA1_ENST00000431676.2_Silent_p.R780R			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	821							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						tcttttatttccttttccctt	0.428000													8	7					0	0	0.003080	0	0
H6PD	9563	broad.mit.edu	37	1	9305602	9305602	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:9305602C>T	ENST00000377403.2	+	2	911	c.609C>T	c.(607-609)gaC>gaT	p.D203D	H6PD_ENST00000602477.1_Silent_p.D214D	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	203	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ACCGGGTGGACCATTACTTAG	0.577000													10	27					0	0	0.000673	0	0
ZNF98	148198	broad.mit.edu	37	19	22585674	22585674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:22585674G>A	ENST00000357774.5	-	3	291	c.170C>T	c.(169-171)tCt>tTt	p.S57F	ZNF98_ENST00000601553.1_Missense_Mutation_p.S57F	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S57Y(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTCTGGCTTAGAGGCAGCAAT	0.393000													33	41					0	0	0.004289	0	0
OR6T1	219874	broad.mit.edu	37	11	123813630	123813630	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:123813630C>G	ENST00000321252.2	-	1	950	c.916G>C	c.(916-918)Ggg>Cgg	p.G306R		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGGGCCACCCCAAGGCTTCT	0.453000													40	50					0	0	0.001706	0	0
OR4C12	283093	broad.mit.edu	37	11	50003373	50003373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:50003373G>A	ENST00000335238.4	-	1	698	c.665C>T	c.(664-666)tCt>tTt	p.S222F		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GTTCTTTAAAGATCTCAAGAT	0.403000													19	25					0	0	0.001216	0	0
MSH4	4438	broad.mit.edu	37	1	76378490	76378490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:76378490G>A	ENST00000263187.3	+	20	2833	c.2729G>A	c.(2728-2730)cGa>cAa	p.R910Q		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	910					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GACAGTTTACGAATATATTTA	0.388000								Mismatch excision repair (MMR)					20	23					0	0	0.001882	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279727	17279727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:17279727G>A	ENST00000253692.7	-	17	3180	c.1516C>T	c.(1516-1518)Cat>Tat	p.H506Y	TBC1D5_ENST00000429924.2_Missense_Mutation_p.H458Y|TBC1D5_ENST00000429383.4_Missense_Mutation_p.H506Y|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.H506Y	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	506						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						TGCAAGTGATGGCTTGGGGCC	0.498000													21	29					0	0	0.001523	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057907	63057907	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:63057907C>T	ENST00000332793.6	+	1	272	c.270C>T	c.(268-270)cgC>cgT	p.R90R	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Silent_p.R38R|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	90						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGTCGTCGCTTTGTCCATC	0.493000													23	45					0	0	0.003330	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457497	21457497	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21457497C>T	ENST00000307378.6	-	7	1173	c.453G>A	c.(451-453)aaG>aaA	p.K151K	SLCO1A2_ENST00000390670.3_Silent_p.K149K|SLCO1A2_ENST00000458504.1_Silent_p.K19K|SLCO1A2_ENST00000452078.1_Silent_p.K151K|SLCO1A2_ENST00000537524.1_Silent_p.K19K	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	151					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ATTTAACTTCCTTTGTACACT	0.358000													21	55					0	0	0.002299	0	0
CSRP3	8048	broad.mit.edu	37	11	19204265	19204265	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:19204265C>T	ENST00000533783.1	-	7	777	c.537G>A	c.(535-537)acG>acA	p.T179T	CSRP3_ENST00000265968.3_Silent_p.T179T	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	179	Gly-rich.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						ACCCAATACCCGTGGGGCCAA	0.438000													41	44					0	0	0.003214	0	0
OR2L2	26246	broad.mit.edu	37	1	248201644	248201644	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248201644C>T	ENST00000366479.2	+	1	171	c.75C>T	c.(73-75)ttC>ttT	p.F25F	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTGGCCTTTTCGTATTCACCC	0.378000													63	104					0	0	0.003610	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84690332	84690332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:84690332G>A	ENST00000286744.5	+	26	4668	c.4444G>A	c.(4444-4446)Gac>Aac	p.D1482N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1482N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1482	TSP type-1 8.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.D1482N(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TAACATCCGGGACTGCCCAGC	0.483000													15	16					0	0	0.003163	0	0
SPAG16	79582	broad.mit.edu	37	2	214354721	214354721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:214354721C>T	ENST00000331683.5	+	10	1072	c.977C>T	c.(976-978)cCa>cTa	p.P326L	SPAG16_ENST00000374309.3_Missense_Mutation_p.P232L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	326					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CAACCAAATCCAAACCTGAAT	0.348000													28	67					0	0	0.002445	0	0
DNAH10	196385	broad.mit.edu	37	12	124298163	124298163	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:124298163C>T	ENST00000409039.3	+	19	3268	c.3243C>T	c.(3241-3243)ctC>ctT	p.L1081L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1081	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGAGGAGCTCTATAATCTCC	0.433000													19	28					0	0	0.001216	0	0
TECTA	7007	broad.mit.edu	37	11	120979978	120979978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:120979978C>T	ENST00000392793.1	+	4	528	c.257C>T	c.(256-258)tCc>tTc	p.S86F	TECTA_ENST00000264037.2_Missense_Mutation_p.S86F			O75443	TECTA_HUMAN	tectorin alpha	86					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGCCAGAATCCTTTCCCCTG	0.483000													20	24					0	0	0.000958	0	0
NDST3	9348	broad.mit.edu	37	4	118975303	118975303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:118975303G>A	ENST00000296499.5	+	2	641	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	NDST3_ENST00000433996.2_Missense_Mutation_p.V80I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	80	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGACCCCACAGTCCTAGTATT	0.433000													27	51					0	0	0.001786	0	0
FCRL4	83417	broad.mit.edu	37	1	157545358	157545358	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:157545358C>T	ENST00000271532.1	-	12	1639	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	502						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCTGAGTTATCTGGGTGTTGT	0.438000													12	41					0	0	0.004990	0	0
VARS2	57176	broad.mit.edu	37	6	30892177	30892177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:30892177C>T	ENST00000321897.5	+	25	3145	c.2513C>T	c.(2512-2514)cCc>cTc	p.P838L	VARS2_ENST00000416670.2_Missense_Mutation_p.P838L|VARS2_ENST00000541562.1_Missense_Mutation_p.P868L|VARS2_ENST00000542001.1_Missense_Mutation_p.P698L|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	838					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						CCCCTGGGGCCCCCTCAGGTC	0.697000													12	17					0	0	0.002450	0	0
SHISA3	152573	broad.mit.edu	37	4	42403085	42403085	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:42403085C>T	ENST00000319234.4	+	2	552	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	112					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GTTCATCATCCTGGGCTCTGT	0.502000													49	87					0	0	0.003610	0	0
NCOA6	23054	broad.mit.edu	37	20	33345246	33345246	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:33345246G>A	ENST00000374796.2	-	8	3875	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	NCOA6_ENST00000359003.2_Silent_p.F435F			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	435	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATCCCTGCTGGAAGGAGGAGG	0.582000													49	30					0	0	0.003610	0	0
TTC7B	145567	broad.mit.edu	37	14	91156014	91156014	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:91156014A>T	ENST00000357056.2	-	7	941	c.820T>A	c.(820-822)Tgt>Agt	p.C274S	TTC7B_ENST00000328459.6_Missense_Mutation_p.C274S			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	274							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTCTGCTCACACATACCCCGC	0.493000													15	8					0	0	0.004007	0	0
PRSS58	136541	broad.mit.edu	37	7	141955111	141955111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:141955111C>T	ENST00000552471.1	-	3	519	c.200G>A	c.(199-201)gGg>gAg	p.G67E	PRSS58_ENST00000547058.2_Missense_Mutation_p.G67E			Q8IYP2	PRS58_HUMAN	protease, serine, 58	67	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GATTGTAACCCCCAATATCAC	0.418000													30	68					0	0	0.004289	0	0
KCNH5	27133	broad.mit.edu	37	14	63174765	63174765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:63174765C>T	ENST00000322893.7	-	11	2696	c.2428G>A	c.(2428-2430)Ggg>Agg	p.G810R	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	810					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGCAGCCACCCTTTTCCATTT	0.458000													58	19					0	0	0.003610	0	0
NOS1AP	9722	broad.mit.edu	37	1	162335266	162335266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:162335266C>T	ENST00000493151.1	+	1	2494	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	NOS1AP_ENST00000361897.5_Missense_Mutation_p.L338F|RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.L24F|NOS1AP_ENST00000530878.1_Missense_Mutation_p.L333F	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	338	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CGTGCATCAGCTTTTGCTGCA	0.597000													24	57					0	0	0.003954	0	0
UBAC1	10422	broad.mit.edu	37	9	138831522	138831522	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:138831522G>A	ENST00000371756.3	-	8	1177	c.960C>T	c.(958-960)gcC>gcT	p.A320A	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	320	UBA 2.					Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		CACTCACCGCGGCATTCTGCT	0.567000													41	9					0	0	0.002222	0	0
ADD1	118	broad.mit.edu	37	4	2906795	2906795	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:2906795C>T	ENST00000398125.1	+	10	1654	c.1466C>T	c.(1465-1467)tCg>tTg	p.S489L	ADD1_ENST00000513328.2_Intron|ADD1_ENST00000398123.2_Missense_Mutation_p.S489L|ADD1_ENST00000398129.1_Intron|ADD1_ENST00000355842.3_Intron|ADD1_ENST00000446856.1_Intron|ADD1_ENST00000264758.7_Missense_Mutation_p.S489L|ADD1_ENST00000503455.2_Missense_Mutation_p.S489L	NM_014190.3|NM_176801.2	NP_054909.2|NP_789771.1	P35611	ADDA_HUMAN	adducin 1 (alpha)	471					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTCTCTCTCGTCCGGTGTC	0.522000													15	25					0	0	0.004007	0	0
SERPINA6	866	broad.mit.edu	37	14	94780692	94780692	+	Silent	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:94780692A>G	ENST00000341584.3	-	2	440	c.294T>C	c.(292-294)acT>acC	p.T98T		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	98					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGACCTCTCAGTGAGGTTGA	0.562000													18	3					0	0	0.000958	0	0
WFDC9	259240	broad.mit.edu	37	20	44237334	44237334	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44237334C>T	ENST00000326000.1	-	4	424	c.207G>A	c.(205-207)tgG>tgA	p.W69*		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	69						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CACAGTAGGTCCAGCAGCATG	0.473000													30	131					0	0	0.003271	0	0
EPHA7	2045	broad.mit.edu	37	6	93979326	93979326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:93979326G>A	ENST00000369303.4	-	7	1686	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	501	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATTATTAATGGAGGCTGAAGT	0.388000													38	65					0	0	0.002852	0	0
SYT15	83849	broad.mit.edu	37	10	46967484	46967484	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:46967484T>C	ENST00000374323.3	-	3	1339	c.752A>G	c.(751-753)cAa>cGa	p.Q251R	SYT15_ENST00000503753.1_Missense_Mutation_p.Q198R|SYT15_ENST00000374325.3_Missense_Mutation_p.Q198R|SYT15_ENST00000374321.4_Missense_Mutation_p.Q198R			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	198						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGTCTTGGATTGGAGGAAGCG	0.607000													16	86					0	0	0.004990	0	0
TGM3	7053	broad.mit.edu	37	20	2293547	2293547	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:2293547G>T	ENST00000381458.5	+	5	607	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	182					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGAACAGTTTGAAGAAGACAT	0.453000													43	35					1.22102e-19	2.29551e-19	0.003610	1	0
MLXIP	22877	broad.mit.edu	37	12	122618397	122618397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:122618397C>T	ENST00000319080.6	+	9	1727	c.1595C>T	c.(1594-1596)cCc>cTc	p.P532L	MLXIP_ENST00000377037.2_Missense_Mutation_p.P122L|MLXIP_ENST00000538698.1_Missense_Mutation_p.P139L			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ACCCGGCCTCCCCAGCCACGG	0.612000													4	9					0	0	0.001168	0	0
ZEB1	6935	broad.mit.edu	37	10	31810200	31810200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31810200C>T	ENST00000446923.2	+	7	2280	c.1889C>T	c.(1888-1890)tCt>tTt	p.S630F	ZEB1_ENST00000320985.10_Missense_Mutation_p.S646F|ZEB1_ENST00000542815.3_Missense_Mutation_p.S579F|ZEB1_ENST00000560721.2_Missense_Mutation_p.S626F|ZEB1_ENST00000361642.5_Missense_Mutation_p.S647F|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	646					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)				GAACCATCTTCTCCTGAACCA	0.408000													21	24					0	0	0.001882	0	0
NBEA	26960	broad.mit.edu	37	13	36158062	36158062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:36158062G>A	ENST00000400445.3	+	46	7597	c.7063G>A	c.(7063-7065)Gct>Act	p.A2355T	NBEA_ENST00000310336.4_Missense_Mutation_p.A2355T|NBEA_ENST00000379939.2_Missense_Mutation_p.A2352T|NBEA_ENST00000537702.1_Missense_Mutation_p.A148T|NBEA_ENST00000540320.1_Missense_Mutation_p.A2355T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2355	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCCCAAGAGAGCTGTGTTTTA	0.328000													77	55					0	0	0.003610	0	0
FHL5	9457	broad.mit.edu	37	6	97051638	97051638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:97051638C>T	ENST00000326771.2	+	3	529	c.149C>T	c.(148-150)tCt>tTt	p.S50F	FHL5_ENST00000541107.1_Missense_Mutation_p.S50F	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	50	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCAATTGAATCTGATTCTAAG	0.363000													29	47					0	0	0.002096	0	0
XKR4	114786	broad.mit.edu	37	8	56270281	56270281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:56270281G>A	ENST00000327381.5	+	2	950	c.850G>A	c.(850-852)Ggg>Agg	p.G284R		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	284						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)			CCGACAGAGTGGGGAGAATGA	0.388000													35	52					0	0	0.003214	0	0
RASGRF1	5923	broad.mit.edu	37	15	79265704	79265704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:79265704C>T	ENST00000419573.3	-	26	3875	c.3601G>A	c.(3601-3603)Gag>Aag	p.E1201K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.E1185K|RASGRF1_ENST00000394745.3_Missense_Mutation_p.E417K	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1203	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCCCCTCCTCGATGAAGGCC	0.547000													18	38					0	0	0.004990	0	0
ANK3	288	broad.mit.edu	37	10	61834107	61834107	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:61834107G>A	ENST00000280772.1	-	37	6723	c.6532C>T	c.(6532-6534)Ccc>Tcc	p.P2178S	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2178					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCAGCTGAGGGATCATAGCTC	0.473000													33	64					0	0	0.002445	0	0
TACC2	10579	broad.mit.edu	37	10	123954640	123954640	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:123954640G>A	ENST00000369005.1	+	8	6260	c.5920G>A	c.(5920-5922)Gaa>Aaa	p.E1974K	TACC2_ENST00000360561.3_Missense_Mutation_p.E52K|TACC2_ENST00000515603.1_Missense_Mutation_p.E1929K|TACC2_ENST00000368999.1_Missense_Mutation_p.E52K|TACC2_ENST00000453444.2_Missense_Mutation_p.E1978K|TACC2_ENST00000334433.3_Missense_Mutation_p.E1974K|TACC2_ENST00000260733.3_Missense_Mutation_p.E52K|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.E120K|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000515273.1_Missense_Mutation_p.E1978K|TACC2_ENST00000369004.3_Missense_Mutation_p.E52K|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.E120K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1974	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCACCCCCCGAAGTCATCCC	0.617000													15	12					0	0	0.003163	0	0
FLAD1	80308	broad.mit.edu	37	1	154961257	154961257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:154961257C>T	ENST00000368433.1	+	2	1392	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.S251L|FLAD1_ENST00000315144.10_Missense_Mutation_p.S253L|FLAD1_ENST00000292180.3_Missense_Mutation_p.S350L|FLAD1_ENST00000368432.1_Missense_Mutation_p.S253L|FLAD1_ENST00000368431.3_Missense_Mutation_p.S251L|FLAD1_ENST00000295530.2_Missense_Mutation_p.S83L			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	350					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCCAGGGATCGCTGGTCCCC	0.567000													30	24					0	0	0.003755	0	0
PLCE1	51196	broad.mit.edu	37	10	95892132	95892132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95892132C>T	ENST00000260766.3	+	3	2042	c.1408C>T	c.(1408-1410)Ctc>Ttc	p.L470F	PLCE1_ENST00000371385.3_Missense_Mutation_p.L162F|PLCE1_ENST00000371375.1_Missense_Mutation_p.L162F|PLCE1_ENST00000371380.2_Missense_Mutation_p.L470F	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	470					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CACCGGTTCTCTCCTAGAAGC	0.478000													35	43					0	0	0.003755	0	0
COL19A1	1310	broad.mit.edu	37	6	70897790	70897790	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:70897790G>A	ENST00000322773.4	+	47	2970	c.2868G>A	c.(2866-2868)ggG>ggA	p.G956G	COL19A1_ENST00000393344.1_Silent_p.G578G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	956	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGATCAGGGGATTCCAGGAG	0.473000													18	21					0	0	0.001882	0	0
C14orf39	317761	broad.mit.edu	37	14	60903606	60903606	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:60903606A>T	ENST00000321731.3	-	18	1880	c.1721T>A	c.(1720-1722)tTt>tAt	p.F574Y		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	574										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GGAAGATGAAAAACCTTTTAA	0.303000													152	41					0	0	0.003610	0	0
ANO3	63982	broad.mit.edu	37	11	26620542	26620542	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:26620542C>T	ENST00000256737.3	+	16	2520	c.1668C>T	c.(1666-1668)ttC>ttT	p.F556F	ANO3_ENST00000537978.1_Silent_p.F540F|ANO3_ENST00000525139.1_Silent_p.F540F|ANO3_ENST00000531568.1_Silent_p.F410F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	556						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GAATATTCTTCATGGTAAAGT	0.378000													19	27					0	0	0.001523	0	0
RPL3L	6123	broad.mit.edu	37	16	2000917	2000917	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2000917T>A	ENST00000268661.7	-	4	523	c.429A>T	c.(427-429)aaA>aaT	p.K143N		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	143					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GTAGCTGCTTTTTCCCGTCTG	0.587000													31	32					0	0	0.004878	0	0
PTK7	5754	broad.mit.edu	37	6	43098000	43098000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:43098000C>T	ENST00000230419.4	+	4	724	c.503C>T	c.(502-504)cCc>cTc	p.P168L	PTK7_ENST00000349241.2_Missense_Mutation_p.P168L|PTK7_ENST00000481273.1_Missense_Mutation_p.P176L|PTK7_ENST00000345201.2_Missense_Mutation_p.P168L|PTK7_ENST00000352931.2_Missense_Mutation_p.P168L|PTK7_ENST00000471863.1_Missense_Mutation_p.P168L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	168	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GATGGGACCCCCCTTTCTGAT	0.597000											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	53					0	0	0.001786	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731934	227731934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:227731934C>T	ENST00000392062.2	+	5	990	c.466C>T	c.(466-468)Cat>Tat	p.H156Y	RHBDD1_ENST00000341329.3_Missense_Mutation_p.H156Y	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	156						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TCTTAACAACCATTATTGCCC	0.373000													30	64					0	0	0.001271	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623811	21623811	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:21623811G>A	ENST00000304418.3	-	1	411	c.374C>T	c.(373-375)tCc>tTc	p.S125F		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		AACCGTGGAGGAGTAGCAGAA	0.517000													19	33					0	0	0.002299	0	0
TIAL1	7073	broad.mit.edu	37	10	121336990	121336990	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:121336990A>C	ENST00000369092.4	-	10	1649	c.341T>G	c.(340-342)tTc>tGc	p.F114C	TIAL1_ENST00000436547.2_Missense_Mutation_p.F237C|TIAL1_ENST00000369093.2_Missense_Mutation_p.F254C			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	237	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CTTTTCTGGGAAAACTCTTAT	0.323000													23	39					0	0	0.003330	0	0
ASTN1	460	broad.mit.edu	37	1	176983946	176983946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176983946C>T	ENST00000367654.2	-	8	1541	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	ASTN1_ENST00000361833.2_Missense_Mutation_p.E502K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.E502K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E502K			O14525	ASTN1_HUMAN	astrotactin 1	510					cell migration|neuron cell-cell adhesion	integral to membrane		p.E502K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCCCCCATTCGTTCCGAATG	0.493000													168	138					0	0	0.003610	0	0
COL6A6	131873	broad.mit.edu	37	3	130286982	130286982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:130286982G>A	ENST00000358511.6	+	5	1966	c.1935G>A	c.(1933-1935)atG>atA	p.M645I	COL6A6_ENST00000453409.2_Missense_Mutation_p.M645I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	645	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAACATTTATGAAAAACCTGG	0.423000													37	83					0	0	0.004289	0	0
ABCC8	6833	broad.mit.edu	37	11	17436075	17436075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17436075G>A	ENST00000302539.4	-	19	2502	c.2377C>T	c.(2377-2379)Ccc>Tcc	p.P793S	ABCC8_ENST00000389817.3_Missense_Mutation_p.P792S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	792	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TTGTTGAAGGGACTCTCAAAG	0.582000													118	174					0	0	0.003610	0	0
FLNC	2318	broad.mit.edu	37	7	128497188	128497188	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:128497188C>T	ENST00000325888.8	+	46	7839	c.7578C>T	c.(7576-7578)ttC>ttT	p.F2526F	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.F2493F	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2526	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CATCAGAGTTCATCGTGAACA	0.632000													82	61					0	0	0.003610	0	0
SMG1	23049	broad.mit.edu	37	16	18839433	18839433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:18839433G>A	ENST00000446231.2	-	55	10073	c.9661C>T	c.(9661-9663)Cca>Tca	p.P3221S	SMG1_ENST00000389467.3_Missense_Mutation_p.P3222S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3221					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GCAGACCGTGGGGGAGGTGTG	0.418000													9	13					0	0	0.000443	0	0
WDFY3	23001	broad.mit.edu	37	4	85742315	85742315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:85742315G>A	ENST00000322366.6	-	11	1920	c.1513C>T	c.(1513-1515)Ctt>Ttt	p.L505F	WDFY3_ENST00000295888.4_Missense_Mutation_p.L505F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	505						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			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)		ACCTCCAAAAGGCCAACCTCC	0.368000													27	39					0	0	0.001271	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056793	120056793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:120056793G>A	ENST00000235547.6	+	4	792	c.653G>A	c.(652-654)gGa>gAa	p.G218E	HSD3B1_ENST00000369413.3_Missense_Mutation_p.G216E|HSD3B1_ENST00000528909.1_Missense_Mutation_p.G216E	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	216					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TCAAGTGTTGGAAAGTTCTCC	0.522000													28	32					0	0	0.001786	0	0
MIR320D2	100302169	broad.mit.edu	37	X	140008356	140008356	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:140008356C>T	ENST00000408154.1	-	0	28					NR_031725.1																						CCCAGCTTTTCCTGACTCCAA	0.338000													16	1					0	0	0.004990	0	0
VANGL2	57216	broad.mit.edu	37	1	160385668	160385668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160385668C>T	ENST00000368061.2	+	2	515	c.41C>T	c.(40-42)tCg>tTg	p.S14L		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	14					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTACAAGTCGGGCCACTCC	0.677000													12	27					0	0	0.001855	0	0
DEPDC5	9681	broad.mit.edu	37	22	32242923	32242923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:32242923C>T	ENST00000400246.1	+	31	3267	c.3125C>T	c.(3124-3126)tCt>tTt	p.S1042F	DEPDC5_ENST00000535622.1_Missense_Mutation_p.S964F|DEPDC5_ENST00000382105.2_Missense_Mutation_p.S964F|DEPDC5_ENST00000382111.2_Missense_Mutation_p.S1042F|DEPDC5_ENST00000382112.3_Missense_Mutation_p.S1033F|DEPDC5_ENST00000400248.1_Missense_Mutation_p.S1033F|DEPDC5_ENST00000266091.3_Missense_Mutation_p.S1042F|DEPDC5_ENST00000400249.2_Missense_Mutation_p.S1033F			O75140	DEPD5_HUMAN	DEP domain containing 5	1033					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAGCTCTCTCTGCCCTGTTG	0.572000													21	31					0	0	0.003954	0	0
SEC16A	9919	broad.mit.edu	37	9	139369688	139369688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:139369688G>A	ENST00000313050.7	-	1	2453	c.2380C>T	c.(2380-2382)Cct>Tct	p.P794S	SEC16A_ENST00000371706.3_Missense_Mutation_p.P616S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P616S|SEC16A_ENST00000431893.2_Missense_Mutation_p.P616S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	616					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ATTTTGGGAGGATTCTCAAGG	0.582000													25	5					0	0	0.003954	0	0
DOCK1	1793	broad.mit.edu	37	10	128796375	128796375	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:128796375A>G	ENST00000280333.6	+	8	738	c.629A>G	c.(628-630)gAt>gGt	p.D210G		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	210					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGAACATAGATATTAACAGA	0.413000													16	17					0	0	0.004990	0	0
RBM28	55131	broad.mit.edu	37	7	127950946	127950946	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:127950946G>A	ENST00000223073.1	-	19	2298	c.2184C>T	c.(2182-2184)acC>acT	p.T728T	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Silent_p.T587T	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	728					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GGTTGAAGCGGGTTTCCGTCT	0.363000													45	111					0	0	0.002522	0	0
LILRP2	79166	broad.mit.edu	37	19	55221554	55221554	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55221554G>A	ENST00000413439.1	+	0	1334																											CTCCCACGGGGGCCAGTACAG	0.677000													8	18					0	0	0.003080	0	0
PDE6C	5146	broad.mit.edu	37	10	95422875	95422875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95422875G>A	ENST00000371447.3	+	21	2596	c.2458G>A	c.(2458-2460)Gat>Aat	p.D820N	PDE6C_ENST00000475427.2_Intron	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	820					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TGATGAGTATGATGCAAAGAT	0.423000													23	28					0	0	0.003330	0	0
GNAT3	346562	broad.mit.edu	37	7	80117914	80117914	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:80117914G>A	ENST00000398291.3	-	3	333	c.240C>T	c.(238-240)tcC>tcT	p.S80S	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	80					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TAGCTAGGATGGATTGCAATG	0.358000													4	23					0	0	0.000248	0	0
EGFR	1956	broad.mit.edu	37	7	55259447	55259447	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:55259447C>T	ENST00000275493.2	+	21	2682	c.2505C>T	c.(2503-2505)caC>caT	p.H835H	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.H782H|EGFR_ENST00000455089.1_Silent_p.H790H	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	835	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCTTGGTGCACCGCGACCTGG	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			14	47					0	0	0.002450	0	0
MYOCD	93649	broad.mit.edu	37	17	12649381	12649381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:12649381G>A	ENST00000425538.1	+	9	1317	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	MYOCD_ENST00000395988.1_Missense_Mutation_p.D277N|MYOCD_ENST00000343344.4_Missense_Mutation_p.D373N	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	373	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TAACCTGGATGATCTGAAGGT	0.413000													50	10					0	0	0.003610	0	0
CPED1	79974	broad.mit.edu	37	7	120764413	120764413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:120764413G>A	ENST00000310396.5	+	8	1414	c.947G>A	c.(946-948)aGa>aAa	p.R316K	CPED1_ENST00000450913.2_Missense_Mutation_p.R316K|CPED1_ENST00000423795.1_Missense_Mutation_p.R96K	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ACATTCCTGAGAGCCAGTTCA	0.408000													72	51					0	0	0.003610	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444354	5444354	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5444354C>T	ENST00000300778.4	+	1	1014	c.924C>T	c.(922-924)ttC>ttT	p.F308F	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	308			F -> S (in dbSNP:rs2647573).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTAAATTTCCTTTCCCTCA	0.393000													10	6					0	0	0.000673	0	0
GPR179	440435	broad.mit.edu	37	17	36486741	36486741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:36486741G>A	ENST00000342292.4	-	11	2731	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	904						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTGGCAGGGGAAGGTGGAGC	0.657000													17	0					0	0	0.004007	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803675	185803675	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:185803675C>T	ENST00000302277.6	+	4	4146	c.3552C>T	c.(3550-3552)ttC>ttT	p.F1184F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1184						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATCTGGCTTTCCCATCTTTAC	0.488000													66	70					0	0	0.003610	0	0
GZMA	3001	broad.mit.edu	37	5	54403740	54403740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:54403740G>A	ENST00000274306.6	+	3	369	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	112	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGCCACACGCGAAGGTGACCT	0.438000													29	9					0	0	0.002836	0	0
DEFB115	245929	broad.mit.edu	37	20	29847299	29847299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:29847299G>A	ENST00000400552.1	+	2	131	c.131G>A	c.(130-132)aGa>aAa	p.R44K		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	44					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			GGAACTGGCAGATGCAGGAAA	0.308000													45	25					0	0	0.003610	0	0
OR52E4	390081	broad.mit.edu	37	11	5905749	5905749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5905749C>T	ENST00000316987.2	+	1	249	c.227C>T	c.(226-228)tCc>tTc	p.S76F		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGTCTGTCCACATCCACT	0.433000													42	82					0	0	0.001951	0	0
JDP2	122953	broad.mit.edu	37	14	75928189	75928189	+	Nonsense_Mutation	SNP	C	C	T	rs3178799		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:75928189C>T	ENST00000435893.2	+	3	535	c.262C>T	c.(262-264)Cga>Tga	p.R88*	JDP2_ENST00000419727.2_Nonsense_Mutation_p.R88*|JDP2_ENST00000437176.1_Nonsense_Mutation_p.R88*|JDP2_ENST00000267569.5_Nonsense_Mutation_p.R99*	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	88						nucleus	sequence-specific DNA binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)		CGCAGCAGCCCGATGCCGGAA	0.592000													15	5					0	0	0.006122	0	0
LAMC3	10319	broad.mit.edu	37	9	133901757	133901757	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:133901757C>T	ENST00000361069.4	+	2	592	c.459C>T	c.(457-459)gcC>gcT	p.A153A	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	153	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCAGCCGCGCCGACGGCCCAT	0.642000													35	3					0	0	0.004878	0	0
OR4D10	390197	broad.mit.edu	37	11	59245693	59245693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:59245693C>T	ENST00000530162.1	+	1	848	c.791C>T	c.(790-792)gCc>gTc	p.A264V		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTTCACTGCCCTCCCCATG	0.562000													41	60					0	0	0.002852	0	0
EPPK1	83481	broad.mit.edu	37	8	144947061	144947061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144947061C>T	ENST00000525985.1	-	2	432	c.361G>A	c.(361-363)Ggc>Agc	p.G121S				P58107	EPIPL_HUMAN	epiplakin 1	121						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGGATAGCCCGTAGTGGCA	0.677000													23	21					0	0	0.002780	0	0
OR4M2	390538	broad.mit.edu	37	15	22368673	22368673	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:22368673C>T	ENST00000332663.2	+	1	196	c.98C>T	c.(97-99)tCc>tTc	p.S33F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S33Y(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATATTTCTATCCTTCTATTTG	0.408000													67	273					0	0	0.003610	0	0
LRRC6	23639	broad.mit.edu	37	8	133627318	133627318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133627318C>T	ENST00000519595.1	-	8	1038	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	LRRC6_ENST00000250173.1_Missense_Mutation_p.E314K|LRRC6_ENST00000518642.1_Missense_Mutation_p.E314K			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	314	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATCTGCTTTTCGTTATCTTTC	0.318000													68	50					0	0	0.003610	0	0
SLC19A2	10560	broad.mit.edu	37	1	169439359	169439359	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:169439359G>A	ENST00000236137.5	-	3	1109	c.873C>T	c.(871-873)tcC>tcT	p.S291S	SLC19A2_ENST00000367804.3_Silent_p.S90S|SLC19A2_ENST00000367802.3_Silent_p.S253S	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	291					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					GAGGGCGAGAGGAGTAGCACA	0.488000													29	87					0	0	0.002096	0	0
MUC16	94025	broad.mit.edu	37	19	9063952	9063952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9063952C>T	ENST00000397910.4	-	3	23697	c.23494G>A	c.(23494-23496)Gga>Aga	p.G7832R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7834	Ser-rich.|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						TCCCTCAATCCAGGGGTCAGG	0.542000													18	36					0	0	0.004990	0	0
UGT3A2	167127	broad.mit.edu	37	5	36037922	36037922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:36037922C>T	ENST00000282507.3	-	6	1373	c.1272G>A	c.(1270-1272)atG>atA	p.M424I	UGT3A2_ENST00000545528.1_Missense_Mutation_p.M122I|UGT3A2_ENST00000513300.1_Missense_Mutation_p.M390I	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	424						integral to membrane	glucuronosyltransferase activity	p.M424I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATTTGTTTCATCTTAAGAG	0.428000													37	90					0	0	0.003610	0	0
GRIK3	2899	broad.mit.edu	37	1	37315934	37315934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:37315934G>A	ENST00000373091.3	-	9	1320	c.1304C>T	c.(1303-1305)tCa>tTa	p.S435L	GRIK3_ENST00000373093.4_Missense_Mutation_p.S435L|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	435					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GACAATGAGTGATCTGTTTGT	0.607000													34	46					0	0	0.004289	0	0
KCTD1	284252	broad.mit.edu	37	18	24039767	24039767	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:24039767G>A	ENST00000417602.1	-	4	2255	c.2256C>T	c.(2254-2256)gtC>gtT	p.V752V	KCTD1_ENST00000580059.1_Silent_p.V144V|KCTD1_ENST00000317932.7_Silent_p.V144V|KCTD1_ENST00000579973.1_Silent_p.V144V|KCTD1_ENST00000408011.3_Silent_p.V144V	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	144					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCACACGCACGACGAGGCACT	0.493000													38	59					0	0	0.004878	0	0
OPN5	221391	broad.mit.edu	37	6	47749833	47749833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:47749833G>A	ENST00000489301.2	+	1	116	c.31G>A	c.(31-33)Gac>Aac	p.D11N	OPN5_ENST00000393699.2_Missense_Mutation_p.D11N|OPN5_ENST00000371211.2_Missense_Mutation_p.D11N			Q6U736	OPN5_HUMAN	opsin 5	11					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CCTGCCTCAGGACGAGCGCCT	0.493000													24	33					0	0	0.004656	0	0
KCNK9	51305	broad.mit.edu	37	8	140631107	140631107	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:140631107G>A	ENST00000520439.1	-	2	582	c.519C>T	c.(517-519)atC>atT	p.I173I	KCNK9_ENST00000303015.1_Silent_p.I173I			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	173						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)			CGGCCGCCCCGATGCACAGCG	0.562000													9	20					0	0	0.000673	0	0
ADAM28	10863	broad.mit.edu	37	8	24187543	24187543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:24187543G>A	ENST00000265769.4	+	11	1128	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.E340K|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.E87K|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Missense_Mutation_p.E107K	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	340	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AATGGCACATGAAATGGGCCA	0.408000													56	14					0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41725446	41725446	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41725446C>T	ENST00000400454.1	-	5	1357	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	294	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGACACTTCACAAACATAG	0.527000													36	65					0	0	0.004878	0	0
FAM129A	116496	broad.mit.edu	37	1	184868373	184868373	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:184868373T>A	ENST00000367511.3	-	2	318	c.125A>T	c.(124-126)aAt>aTt	p.N42I		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	42					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCGCACGTGATTGCAGAAAGC	0.398000													58	47					0	0	0.003610	0	0
CHRM2	1129	broad.mit.edu	37	7	136700737	136700737	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:136700737G>A	ENST00000445907.2	+	3	1653	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.K375K|CHRM2_ENST00000402486.3_Silent_p.K375K|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.K375K|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000320658.5_Silent_p.K375K|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Silent_p.K375K|AC009264.1_ENST00000593789.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	375					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)	CTGCAAAAAAGAAGCCTCCTC	0.483000													89	11					0	0	0.003610	0	0
RNF165	494470	broad.mit.edu	37	18	44015303	44015303	+	Silent	SNP	C	C	T	rs61732298		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:44015303C>T	ENST00000269439.7	+	3	480	c.429C>T	c.(427-429)ttC>ttT	p.F143F	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	143							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		ATCCCAGCTTCGACTTCGGCC	0.642000													15	29					0	0	0.006122	0	0
KIAA1551	55196	broad.mit.edu	37	12	32136638	32136638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:32136638C>T	ENST00000312561.4	+	4	3163	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CAGCTCTCTTCCCTTGAAAAT	0.378000													21	26					0	0	0.001216	0	0
FMN2	56776	broad.mit.edu	37	1	240371804	240371804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:240371804G>A	ENST00000319653.9	+	5	3922	c.3692G>A	c.(3691-3693)gGa>gAa	p.G1231E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1231	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTGGGACAGGAATCCCACCG	0.617000													5	8					0	0	0.000602	0	0
PEX6	5190	broad.mit.edu	37	6	42935153	42935153	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:42935153G>T	ENST00000304611.8	-	8	1906	c.1837C>A	c.(1837-1839)Ccc>Acc	p.P613T	PEX6_ENST00000244546.4_Missense_Mutation_p.P613T	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	613					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TGGCCCAGGGGAAGGTGGGCA	0.617000													8	17					0.000274275	0.000510682	0.004482	1	0
P2RX4	5025	broad.mit.edu	37	12	121660778	121660778	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:121660778C>T	ENST00000337233.4	+	5	764	c.456C>T	c.(454-456)ttC>ttT	p.F152F	P2RX4_ENST00000541532.1_Intron|P2RX4_ENST00000540930.1_Intron|P2RX4_ENST00000543171.1_Silent_p.F51F|P2RX4_ENST00000359949.7_Silent_p.F168F	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	152					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCGTAGCTTTCAACGGGTCTG	0.577000													63	84					0	0	0.003610	0	0
IL20RA	53832	broad.mit.edu	37	6	137322750	137322750	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:137322750G>A	ENST00000367748.1	-	6	1860	c.1274C>T	c.(1273-1275)aCc>aTc	p.T425I	IL20RA_ENST00000541547.1_Missense_Mutation_p.T487I|IL20RA_ENST00000316649.5_Missense_Mutation_p.T536I			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	536						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CATGAGATAGGTTTCATTTTC	0.502000													70	95					0	0	0.003610	0	0
OR4K13	390433	broad.mit.edu	37	14	20502407	20502407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:20502407G>A	ENST00000315693.2	-	1	512	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATAACATTGGGACCACAGAAG	0.483000													31	56					0	0	0.002096	0	0
ENTHD2	146705	broad.mit.edu	37	17	79210864	79210864	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:79210864G>A	ENST00000300714.3	-	3	186	c.129C>T	c.(127-129)tcC>tcT	p.S43S	ENTHD2_ENST00000374769.2_5'UTR	NM_144679.2	NP_653280.1			ENTH domain containing 2																		GAGACTCGTGGGAGATTTCTG	0.677000													5	0					0	0	0.001984	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54905632	54905632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:54905632G>A	ENST00000474759.1	+	18	1741	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E565K|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E471K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E565K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	565						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGTGGAGTGGGAAGACCGAGA	0.483000													34	29					0	0	0.001287	0	0
FOXK1	221937	broad.mit.edu	37	7	4780636	4780636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:4780636C>T	ENST00000328914.4	+	2	728	c.728C>T	c.(727-729)tCc>tTc	p.S243F	FOXK1_ENST00000446823.1_Missense_Mutation_p.S80F	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	243					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.S243F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCCGTCCCCTCCCCGACGGGC	0.701000													7	13					0	0	0.003080	0	0
SLC29A4	222962	broad.mit.edu	37	7	5340250	5340250	+	Silent	SNP	C	C	T	rs141584802		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:5340250C>T	ENST00000396872.2	+	10	1568	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000297195.4_Silent_p.I469I|SLC29A4_ENST00000406453.3_Silent_p.I455I	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	469					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGCCCATGATCCTGGCGGCAG	0.701000													21	35					0	0	0.001523	0	0
LMX1A	4009	broad.mit.edu	37	1	165182914	165182914	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:165182914C>A	ENST00000342310.3	-	5	1015	c.633G>T	c.(631-633)aaG>aaT	p.K211N	LMX1A_ENST00000367893.4_Missense_Mutation_p.K211N|LMX1A_ENST00000294816.2_Missense_Mutation_p.K211N	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	211						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)					CAAATGAGGCCTTGAATGCTC	0.562000													109	70					3.39137e-47	6.39351e-47	0.003610	1	0
ZNF808	388558	broad.mit.edu	37	19	53057053	53057053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:53057053C>T	ENST00000359798.4	+	5	1064	c.884C>T	c.(883-885)tCc>tTc	p.S295F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TGTGGAAAGTCCTTCAGTTAC	0.408000													59	92					0	0	0.003610	0	0
PNPT1	87178	broad.mit.edu	37	2	55920892	55920892	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:55920892G>A	ENST00000447944.2	-	1	153	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	23					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGCCGTGGCAGAAGGAAAGGA	0.657000													18	34					0	0	0.002299	0	0
IFNL1	282618	broad.mit.edu	37	19	39788685	39788685	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39788685G>A	ENST00000333625.2	+	3	428	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_172140.1	NP_742152.1			interferon, lambda 1																		CCCAGCCCTGGAGGACGTCCT	0.672000													20	23					0	0	0.001523	0	0
A1CF	29974	broad.mit.edu	37	10	52610430	52610430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:52610430C>T	ENST00000395489.2	-	5	469	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	A1CF_ENST00000373997.3_Intron|A1CF_ENST00000373993.1_Intron|A1CF_ENST00000395495.1_Intron|A1CF_ENST00000374001.1_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.E40K|A1CF_ENST00000282641.2_Intron	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	32					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTTACCTTTTCCAGCAAAGTT	0.418000													53	58					0	0	0.003610	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134836	81134836	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:81134836G>A	ENST00000525539.1	-	0	7270				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TAATGCCCAGGAAACTGAGTA	0.527000													14	20					0	0	0.001855	0	0
TMEM211	255349	broad.mit.edu	37	22	25331514	25331514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:25331514G>A	ENST00000407886.1	-	4	428	c.176C>T	c.(175-177)tCc>tTc	p.S59F	TMEM211_ENST00000423535.1_Missense_Mutation_p.S130F|TMEM211_ENST00000382744.1_Missense_Mutation_p.S59F			Q6ICI0	TM211_HUMAN	transmembrane protein 211	130						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						GATGAATGGGGAGGCAAGGCC	0.522000													15	27					0	0	0.003163	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530056	5530056	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5530056C>T	ENST00000311659.4	-	2	880	c.733G>A	c.(733-735)Gag>Aag	p.E245K	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	245										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAATGCTCTCCAAGTTACTG	0.493000													26	52					0	0	0.001512	0	0
PENK	5179	broad.mit.edu	37	8	57354100	57354100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:57354100C>T	ENST00000314922.3	-	2	611	c.535G>A	c.(535-537)Gag>Aag	p.E179K	PENK_ENST00000451791.2_Missense_Mutation_p.E179K|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	179					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ACTTCTTCCTCATTATCACTG	0.532000													80	66					0	0	0.003610	0	0
OR2G2	81470	broad.mit.edu	37	1	247751856	247751856	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247751856C>T	ENST00000320065.1	+	1	195	c.195C>T	c.(193-195)ttC>ttT	p.F65F	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTATTTCTTCCTTTCTCATC	0.448000													82	76					0	0	0.003610	0	0
OR5D13	390142	broad.mit.edu	37	11	55541241	55541241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55541241G>A	ENST00000361760.1	+	1	328	c.328G>A	c.(328-330)Gga>Aga	p.G110R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTGCATTTTTGGAGTGACAGA	0.408000													57	73					0	0	0.003610	0	0
NOB1	28987	broad.mit.edu	37	16	69778779	69778779	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:69778779G>A	ENST00000268802.5	-	8	995	c.966C>T	c.(964-966)ctC>ctT	p.L322L		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	322						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CACTCACCCGGAGGCCGCGGG	0.577000													10	13					0	0	0.001368	0	0
RIF1	55183	broad.mit.edu	37	2	152325177	152325177	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152325177C>T	ENST00000243326.4	+	32	7331	c.6848C>T	c.(6847-6849)tCc>tTc	p.S2283F	RIF1_ENST00000428287.2_Missense_Mutation_p.S2257F|RIF1_ENST00000453091.2_Missense_Mutation_p.S2257F|RIF1_ENST00000444746.2_Missense_Mutation_p.S2283F|RIF1_ENST00000430328.2_Missense_Mutation_p.S2257F			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2283	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCCAAAGAATCCATACCATGC	0.373000													26	53					0	0	0.001061	0	0
PYROXD2	84795	broad.mit.edu	37	10	100144780	100144780	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:100144780G>A	ENST00000370575.4	-	15	1647	c.1599C>T	c.(1597-1599)gcC>gcT	p.A533A	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	533			A -> T (in dbSNP:rs2296441).				oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GCACGGGGCGGGCGAAGTAGA	0.602000													9	14					0	0	0.001368	0	0
ANKRD36	375248	broad.mit.edu	37	2	97851184	97851184	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:97851184G>A	ENST00000420699.2	+	30	2222	c.1978G>A	c.(1978-1980)Gac>Aac	p.D660N	ANKRD36_ENST00000461153.2_Missense_Mutation_p.D660N	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	660										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GGCTACAAGTGACAAGACAGA	0.308000													5	4					0	0	0.001984	0	0
LMBRD2	92255	broad.mit.edu	37	5	36142664	36142664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:36142664G>A	ENST00000296603.4	-	3	674	c.212C>T	c.(211-213)tCa>tTa	p.S71L		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	71						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGAGGGCTTGAATTTGCAGC	0.363000													50	71					0	0	0.003610	0	0
DGKB	1607	broad.mit.edu	37	7	14613861	14613861	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:14613861G>A	ENST00000403951.2	-	20	2168	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	DGKB_ENST00000406247.3_Silent_p.I583I|DGKB_ENST00000402815.1_Silent_p.I582I|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.I583I|DGKB_ENST00000444700.2_Silent_p.I564I|DGKB_ENST00000258767.5_Silent_p.I583I|DGKB_ENST00000407950.1_Silent_p.I575I			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	583					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AGTAATTATTGATGATACTGT	0.353000													82	147					0	0	0.003610	0	0
NPAT	4863	broad.mit.edu	37	11	108043009	108043009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:108043009G>A	ENST00000278612.8	-	13	2807	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	901					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AGGTGGTAGAGGTTGAGCAGT	0.428000													40	88					0	0	0.001485	0	0
LY96	23643	broad.mit.edu	37	8	74903690	74903690	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:74903690C>T	ENST00000284818.2	+	1	104	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	LY96_ENST00000518893.1_Silent_p.L5L	NM_015364.4	NP_056179.3	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	5					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GTTACCATTTCTGTTTTTTTC	0.368000													49	55					0	0	0.003610	0	0
KRT6C	286887	broad.mit.edu	37	12	52865510	52865510	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52865510C>T	ENST00000252250.6	-	3	809	c.762G>A	c.(760-762)gaG>gaA	p.E254E		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	254	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGATTTCATCCTCATATCTAC	0.423000													39	70					0	0	0.003610	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535324	166535324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166535324G>A	ENST00000314499.7	+	7	1195	c.819G>A	c.(817-819)atG>atA	p.M273I	CSRNP3_ENST00000342316.4_Missense_Mutation_p.M273I|CSRNP3_ENST00000409420.1_Missense_Mutation_p.M305I	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	273					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ACACAATAATGAAACTTGAAC	0.463000													17	27					0	0	0.004990	0	0
KLHL4	56062	broad.mit.edu	37	X	86772938	86772938	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:86772938C>T	ENST00000373119.4	+	1	187	c.42C>T	c.(40-42)atC>atT	p.I14I	KLHL4_ENST00000373114.4_Silent_p.I14I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	14						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGAAACAGATCCTAAGGCTAC	0.478000													56	19					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82785168	82785168	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:82785168C>T	ENST00000423517.2	-	2	1126	c.789G>A	c.(787-789)caG>caA	p.Q263Q	PCLO_ENST00000333891.8_Silent_p.Q263Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	263	Gln-rich.|Pro-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						TCTGAGGAGTCTGGGTAGGAC	0.453000													10	39					0	0	0.001368	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951918	119951918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:119951918C>T	ENST00000307142.4	+	4	2184	c.1988C>T	c.(1987-1989)tCg>tTg	p.S663L	SYNPO2_ENST00000434046.2_Missense_Mutation_p.S663L|SYNPO2_ENST00000429713.2_Missense_Mutation_p.S663L|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	663						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTTTACGATTCGTCTGAGCGA	0.567000													17	28					0	0	0.006122	0	0
C20orf195	79025	broad.mit.edu	37	20	62187726	62187726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62187726C>T	ENST00000370098.3	+	2	802	c.710C>T	c.(709-711)tCg>tTg	p.S237L	C20orf195_ENST00000370097.1_Missense_Mutation_p.S237L	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	237								p.S237*(1)		large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCAGCCACATCGGAGCAGTAT	0.652000													51	123					0	0	0.003610	0	0
DMXL2	23312	broad.mit.edu	37	15	51795147	51795147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:51795147G>A	ENST00000251076.5	-	17	3135	c.2848C>T	c.(2848-2850)Cct>Tct	p.P950S	DMXL2_ENST00000543779.2_Missense_Mutation_p.P950S|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	950						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTCACACTAGGAGAGGTTTCT	0.423000													29	58					0	0	0.002096	0	0
GRK7	131890	broad.mit.edu	37	3	141499437	141499437	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:141499437C>T	ENST00000264952.2	+	2	971	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	278	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACCTCAAGTTCCACATCTACA	0.557000													18	52					0	0	0.000958	0	0
OR8S1	341568	broad.mit.edu	37	12	48920047	48920047	+	Silent	SNP	C	C	T	rs139022158	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:48920047C>T	ENST00000310194.1	+	1	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F211F(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGGGAAACTTCCTTTTGGTCT	0.537000													22	30					0	0	0.002780	0	0
ABCB5	340273	broad.mit.edu	37	7	20725318	20725318	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:20725318G>A	ENST00000404938.2	+	16	2521		c.e16-1		ABCB5_ENST00000258738.6_Splice_Site	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5						regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTTCCTGTAAGGATATTAAAA	0.343000													12	20					0	0	0.002450	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671359	31671359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:31671359G>A	ENST00000375483.3	+	3	356	c.356G>A	c.(355-357)cGa>cAa	p.R119Q		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	119						cytoplasm|extracellular region	lipid binding										AGGGACCTCCGAAACAGTGGC	0.587000													45	33					0	0	0.002522	0	0
THBS1	7057	broad.mit.edu	37	15	39880355	39880355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:39880355G>A	ENST00000260356.5	+	9	1572	c.1407G>A	c.(1405-1407)atG>atA	p.M469I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	469	TSP type-1 2.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCCCCCAGATGAACGGGAAAC	0.597000													12	27					0	0	0.001855	0	0
ERMARD	55780	broad.mit.edu	37	6	170173476	170173476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:170173476C>T	ENST00000588451.1	+	12	1400	c.887C>T	c.(886-888)cCg>cTg	p.P296L	C6orf70_ENST00000366772.2_Missense_Mutation_p.P432L|C6orf70_ENST00000418781.3_Missense_Mutation_p.P432L|C6orf70_ENST00000392095.4_Missense_Mutation_p.P306L|C6orf70_ENST00000366773.3_Missense_Mutation_p.P432L			Q5T6L9	CF070_HUMAN		432						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CGCTGTCATCCGGTTTTTCAG	0.463000													21	34					0	0	0.003330	0	0
BPIFC	254240	broad.mit.edu	37	22	32827380	32827380	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:32827380G>A	ENST00000397452.1	-	12	1281	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L	BPIFC_ENST00000432451.2_Silent_p.L148L|BPIFC_ENST00000534972.1_Silent_p.L115L|BPIFC_ENST00000300399.3_Silent_p.L391L			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	391						extracellular region	lipopolysaccharide binding|phospholipid binding										AAAATAACCAGGCCAACACTG	0.383000													18	20					0	0	0.001882	0	0
SCN10A	6336	broad.mit.edu	37	3	38797420	38797420	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38797420G>A	ENST00000449082.2	-	10	1319	c.1320C>T	c.(1318-1320)acC>acT	p.T440T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	440					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGTGGAGAGAGGTTGTGTCAA	0.483000													52	46					0	0	0.003610	0	0
SPTLC3	55304	broad.mit.edu	37	20	13145493	13145493	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:13145493G>A	ENST00000399002.2	+	12	1912	c.1638G>A	c.(1636-1638)acG>acA	p.T546T		NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	546					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATGATGAGACGAGCTTTGAAC	0.433000													5	7					0	0	0.001168	0	0
PRDM16	63976	broad.mit.edu	37	1	3328229	3328229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:3328229C>T	ENST00000378398.3	+	10	1553	c.1471C>T	c.(1471-1473)Ccc>Tcc	p.P491S	PRDM16_ENST00000514189.1_Missense_Mutation_p.P491S|PRDM16_ENST00000511072.1_Missense_Mutation_p.P491S|PRDM16_ENST00000378391.2_Missense_Mutation_p.P490S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.P490S|PRDM16_ENST00000441472.2_Missense_Mutation_p.P490S|PRDM16_ENST00000270722.5_Missense_Mutation_p.P490S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	490	Pro-rich.			S -> Y (in Ref. 2; AAG33382).	brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGAGTACTTTCCCTCCAGGCC	0.667000			T	EVI1	"""MDS, AML"""								34	42					0	0	0.001706	0	0
CYB5RL	606495	broad.mit.edu	37	1	54640385	54640385	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:54640385G>A	ENST00000419823.2	-	7	1079	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CYB5RL_ENST00000401046.3_Silent_p.F137F|CYB5RL_ENST00000287899.8_Silent_p.F217F|CYB5RL_ENST00000542737.1_Silent_p.F285F|CYB5RL_ENST00000534324.1_Silent_p.F285F|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000537208.1_Silent_p.F217F	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	285							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						AGACCAGTGCGAATGGCTTTC	0.552000													14	19					0	0	0.004007	0	0
SCN1A	6323	broad.mit.edu	37	2	166866347	166866347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:166866347G>A	ENST00000423058.2	-	20	3901	c.3884C>T	c.(3883-3885)tCa>tTa	p.S1295L	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1267L|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1284L|SCN1A_ENST00000303395.4_Missense_Mutation_p.S1295L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1295						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACTGACCAATGAAACCTGCAC	0.338000													19	35					0	0	0.001523	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955510	18955510	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:18955510G>A	ENST00000302797.3	-	1	1046	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	274					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAGCCCACGAAGAAGTAAA	0.512000													19	61					0	0	0.005443	0	0
CNTN5	53942	broad.mit.edu	37	11	100126511	100126511	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:100126511G>A	ENST00000524871.1	+	17	2315	c.2025G>A	c.(2023-2025)ggG>ggA	p.G675G	CNTN5_ENST00000528682.1_Silent_p.G675G|CNTN5_ENST00000527185.1_Silent_p.G675G|CNTN5_ENST00000279463.3_Silent_p.G675G|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Silent_p.G601G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	675	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCCCACCTGGGATAGTAATTG	0.458000													28	41					0	0	0.002836	0	0
LRP1B	53353	broad.mit.edu	37	2	141135812	141135812	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141135812C>T	ENST00000389484.3	-	68	11546	c.10575G>A	c.(10573-10575)ggG>ggA	p.G3525G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3525	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAACACAGTCCCCATTGGCAC	0.398000										TSP Lung(27;0.18)			17	38					0	0	0.001882	0	0
NEURL3	93082	broad.mit.edu	37	2	97165184	97165184	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:97165184G>A	ENST00000310865.3	-	0	754									neuralized E3 ubiquitin protein ligase 3																		CTGGCTGTGGGATCTGAGGCA	0.632000													20	30					0	0	0.001882	0	0
DMGDH	29958	broad.mit.edu	37	5	78350118	78350118	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:78350118C>T	ENST00000255189.3	-	4	457	c.429G>A	c.(427-429)agG>agA	p.R143R	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	143					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ATTCATCTACCCTTACAGGGG	0.408000													18	3					0	0	0.004990	0	0
TET1	80312	broad.mit.edu	37	10	70446316	70446316	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:70446316C>T	ENST00000373644.4	+	11	5465	c.5256C>T	c.(5254-5256)ccC>ccT	p.P1752P		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1752					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCCTGTTCCCCGTTCTGGAA	0.502000													26	43					0	0	0.001786	0	0
STMN3	50861	broad.mit.edu	37	20	62275187	62275187	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:62275187G>A	ENST00000370053.1	-	3	294	c.213C>T	c.(211-213)ctC>ctT	p.L71L	STMN3_ENST00000540534.1_Silent_p.L60L	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	71					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			GTGGGGAGGAGAGCATAGGGC	0.622000													71	34					0	0	0.003610	0	0
LCT	3938	broad.mit.edu	37	2	136566152	136566152	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:136566152C>T	ENST00000264162.2	-	8	3775	c.3765G>A	c.(3763-3765)agG>agA	p.R1255R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1255	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGTTCAGCAGCCTTCGCGTCC	0.572000													25	50					0	0	0.005443	0	0
SERPINI1	5274	broad.mit.edu	37	3	167506980	167506980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:167506980C>T	ENST00000295777.5	+	2	495	c.64C>T	c.(64-66)Cct>Tct	p.P22S	SERPINI1_ENST00000446050.2_Missense_Mutation_p.P22S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	22					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P22S(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						GGCCACTTTCCCTGAGGAAGC	0.408000													37	35					0	0	0.005524	0	0
IGSF10	285313	broad.mit.edu	37	3	151163025	151163025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:151163025C>T	ENST00000282466.3	-	4	4743	c.4744G>A	c.(4744-4746)Gaa>Aaa	p.E1582K		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1582					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGCAATTTCTGAGTATGGT	0.433000													58	64					0	0	0.003610	0	0
MED12	9968	broad.mit.edu	37	X	70344182	70344182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:70344182C>T	ENST00000333646.6	+	13	2117	c.1918C>T	c.(1918-1920)Cct>Tct	p.P640S	MED12_ENST00000374102.1_Missense_Mutation_p.P640S|MED12_ENST00000374080.3_Missense_Mutation_p.P640S	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	640					androgen receptor signaling pathway|negative regulation of Wnt 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|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTTTGATGATCCTGCCGATGA	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						3	2					0	0	0.004672	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196562	133196562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:133196562G>A	ENST00000388996.4	-	3	950	c.530C>T	c.(529-531)gCt>gTt	p.A177V	KCNQ3_ENST00000521134.1_Missense_Mutation_p.A57V|KCNQ3_ENST00000519445.1_Missense_Mutation_p.A177V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	177					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACATCCAGCAGCCCAGATCCT	0.532000													20	87					0	0	0.002299	0	0
JAG1	182	broad.mit.edu	37	20	10621490	10621490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:10621490G>A	ENST00000254958.5	-	25	3655	c.3140C>T	c.(3139-3141)tCg>tTg	p.S1047L	JAG1_ENST00000423891.2_Missense_Mutation_p.S888L	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1047					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						AGCAATCAGCGAGCTGTTTCC	0.443000									Alagille Syndrome				5	34					0	0	0.000602	0	0
AMER1	139285	broad.mit.edu	37	X	63409897	63409897	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:63409897G>A	ENST00000330258.3	-	2	3542	c.3270C>T	c.(3268-3270)gtC>gtT	p.V1090V	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GCTCAGGCCGGACCCTGGGCA	0.627000													6	2					0	0	0.003080	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303487	151303487	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:151303487G>A	ENST00000370323.4	-	4	922	c.606C>T	c.(604-606)gtC>gtT	p.V202V	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.V202V	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	202	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTGACAAGGACAAAGGAGT	0.498000													23	6					0	0	0.003330	0	0
ASAP3	55616	broad.mit.edu	37	1	23763535	23763535	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:23763535G>A	ENST00000336689.3	-	15	1389	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	ASAP3_ENST00000484906.1_5'UTR|ASAP3_ENST00000437606.2_Missense_Mutation_p.P440S	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	449	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						AGCCACGTGGGGTCTGCAGAG	0.687000													8	8					0	0	0.000443	0	0
FAM47A	158724	broad.mit.edu	37	X	34148524	34148524	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:34148524G>A	ENST00000346193.3	-	1	1923	c.1872C>T	c.(1870-1872)tcC>tcT	p.S624S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	624										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GATTCCTGATGGATTCTTCAT	0.438000													26	3					0	0	0.004656	0	0
TTN	7273	broad.mit.edu	37	2	179565924	179565924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179565924G>A	ENST00000589042.1	-	111	30829	c.30605C>T	c.(30604-30606)cCt>cTt	p.P10202L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P9885L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P8958L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9885	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P8958H(2)		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)			AACCACAGGAGGGATTTCTGA	0.368000													36	58					0	0	0.001951	0	0
AOAH	313	broad.mit.edu	37	7	36616230	36616230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:36616230C>T	ENST00000431169.1	-	13	1271	c.971G>A	c.(970-972)tGg>tAg	p.W324*	AOAH_ENST00000258749.5_Nonsense_Mutation_p.W324*|AOAH_ENST00000535891.1_Nonsense_Mutation_p.W292*|AOAH_ENST00000538464.1_Nonsense_Mutation_p.W46*	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	324					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GTTTCTTTTCCATAAGCGAAG	0.308000													41	101					0	0	0.003610	0	0
KIAA0430	9665	broad.mit.edu	37	16	15728713	15728713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:15728713G>A	ENST00000396368.3	-	4	1113	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F	KIAA0430_ENST00000602337.1_Missense_Mutation_p.L303F|KIAA0430_ENST00000551742.1_Missense_Mutation_p.L303F|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L303F|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L303F|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L125F	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	302						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGGACAGCAAGAGGTGCAGGT	0.438000													40	70					0	0	0.002222	0	0
KIF17	57576	broad.mit.edu	37	1	21031383	21031383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:21031383C>T	ENST00000247986.2	-	5	990	c.680G>A	c.(679-681)gGc>gAc	p.G227D	KIF17_ENST00000375044.1_Missense_Mutation_p.G127D|KIF17_ENST00000400463.3_Missense_Mutation_p.G227D			Q9P2E2	KIF17_HUMAN	kinesin family member 17	227	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTGGTCCTTGCCCCGCTCATC	0.677000													21	15					0	0	0.003954	0	0
CSF1R	1436	broad.mit.edu	37	5	149453025	149453025	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:149453025C>T	ENST00000286301.3	-	7	1212	c.921G>A	c.(919-921)caG>caA	p.Q307Q	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	307	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGATGAGGTTCTGCTCAGAGC	0.517000													30	17					0	0	0.001786	0	0
ADAM18	8749	broad.mit.edu	37	8	39502881	39502881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:39502881G>A	ENST00000265707.5	+	11	979	c.934G>A	c.(934-936)Gga>Aga	p.G312R	ADAM18_ENST00000379866.1_Missense_Mutation_p.G288R|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	312	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGGTTTGGAGGGATTTTCGGT	0.313000													62	16					0	0	0.003610	0	0
USP26	83844	broad.mit.edu	37	X	132162061	132162061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:132162061G>A	ENST00000511190.1	-	6	657	c.188C>T	c.(187-189)tCc>tTc	p.S63F	USP26_ENST00000406273.1_Missense_Mutation_p.S63F|USP26_ENST00000370832.1_Missense_Mutation_p.S63F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	63					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)					TCCTCTATAGGATTTAAGGAC	0.323000													25	8					0	0	0.001271	0	0
NEBL	10529	broad.mit.edu	37	10	21141544	21141544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:21141544C>T	ENST00000377122.4	-	10	1334	c.938G>A	c.(937-939)gGa>gAa	p.G313E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	313					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						ATGATACATTCCTTTGTTTTC	0.398000													10	22					0	0	0.000443	0	0
CBLC	23624	broad.mit.edu	37	19	45281354	45281354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45281354C>T	ENST00000270279.3	+	1	229	c.166C>T	c.(166-168)Cga>Tga	p.R56*	CBLC_ENST00000341505.4_Nonsense_Mutation_p.R56*	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	56	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCAGCTGCTTCGAGAGGTGGC	0.701000			M		AML								53	55					0	0	0.003610	0	0
CSF1R	1436	broad.mit.edu	37	5	149435821	149435821	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:149435821C>T	ENST00000286301.3	-	18	2694	c.2403G>A	c.(2401-2403)agG>agA	p.R801R		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	801	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TCATGATGTCCCTAGCCAGCC	0.577000													25	12					0	0	0.003954	0	0
MORC1	27136	broad.mit.edu	37	3	108778653	108778653	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:108778653C>T	ENST00000232603.5	-	12	1113	c.1031_splice	c.e12+1	p.R344_splice	MORC1_ENST00000483760.1_Splice_Site_p.R344_splice	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	344					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTGTCTTACCTTTGTTTCTC	0.363000													9	21					0	0	0.004482	0	0
USH1C	10083	broad.mit.edu	37	11	17542541	17542541	+	Splice_Site	SNP	C	C	T	rs147727890		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17542541C>T	ENST00000005226.7	-	14	1085	c.1085_splice	c.e14-1	p.Q362_splice	USH1C_ENST00000527720.1_Splice_Site_p.Q331_splice|USH1C_ENST00000527020.1_Splice_Site_p.Q343_splice|USH1C_ENST00000318024.4_Splice_Site_p.Q362_splice	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	362					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCTCTACAATCCTAAAATGAG	0.522000													90	179					0	0	0.003610	0	0
SYCE1	93426	broad.mit.edu	37	10	135369376	135369376	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:135369376C>T	ENST00000368517.3	-	10	657	c.519G>A	c.(517-519)gtG>gtA	p.V173V	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Silent_p.V209V|SYCE1_ENST00000432597.2_Silent_p.V173V	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	209					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCTGATGCTTCACGTCTTCCA	0.592000													7	20					0	0	0.003080	0	0
TSIX	9383	broad.mit.edu	37	X	73045928	73045928	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:73045928C>T	ENST00000604411.1	+	0	33889				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						CTAGAAATCCCAAACCCCAGA	0.493000													33	8					0	0	0.002445	0	0
RGPD4	285190	broad.mit.edu	37	2	108488470	108488470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:108488470C>T	ENST00000408999.3	+	20	4087	c.4010C>T	c.(4009-4011)cCt>cTt	p.P1337L	RGPD4_ENST00000354986.4_Missense_Mutation_p.P1337L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1337	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TACTTTGAACCTGTTGTTCCT	0.398000													70	110					0	0	0.003610	0	0
OR4C16	219428	broad.mit.edu	37	11	55340049	55340049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55340049G>A	ENST00000314634.3	+	1	446	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GCCTGGGTGGGATCCTGTGTG	0.502000													36	65					0	0	0.005524	0	0
GRIA1	2890	broad.mit.edu	37	5	153085554	153085554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:153085554G>A	ENST00000285900.5	+	11	2093	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	GRIA1_ENST00000518142.1_Missense_Mutation_p.E504K|GRIA1_ENST00000448073.4_Missense_Mutation_p.E594K|GRIA1_ENST00000340592.5_Missense_Mutation_p.E584K|GRIA1_ENST00000518783.1_Missense_Mutation_p.E594K|GRIA1_ENST00000521843.2_Missense_Mutation_p.E515K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	584					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAGTCCAATGAGTTTGGGAT	0.507000													24	13					0	0	0.003954	0	0
MED14	9282	broad.mit.edu	37	X	40572218	40572218	+	Silent	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:40572218A>T	ENST00000324817.1	-	6	847	c.729T>A	c.(727-729)gtT>gtA	p.V243V		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	243	Interaction with STAT2.				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			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACGCCATGGAACATCAGGGT	0.373000													13	2					0	0	0.001855	0	0
OR5F1	338674	broad.mit.edu	37	11	55761196	55761196	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55761196C>T	ENST00000278409.1	-	1	905	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAATTACATTCGCTAAAGCCT	0.383000													9	19					0	0	0.004482	0	0
ITGB2	3689	broad.mit.edu	37	21	46310002	46310002	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46310002C>T	ENST00000397850.2	-	13	2000	c.1548G>A	c.(1546-1548)caG>caA	p.Q516Q	ITGB2_ENST00000397852.1_Silent_p.Q516Q|ITGB2_ENST00000355153.4_Silent_p.Q516Q|ITGB2_ENST00000397854.3_Silent_p.Q459Q|ITGB2_ENST00000397857.1_Silent_p.Q516Q|ITGB2_ENST00000302347.5_Silent_p.Q516Q			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	516	Cysteine-rich tandem repeats.				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)	GGCACAGGCACTGCCCGCAGA	0.627000													5	16					0	0	0.000602	0	0
CACNA1E	777	broad.mit.edu	37	1	181754866	181754866	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:181754866C>T	ENST00000526775.1	+	42	5805	c.5640C>T	c.(5638-5640)ttC>ttT	p.F1880F	CACNA1E_ENST00000367567.4_Silent_p.F1506F|CACNA1E_ENST00000367570.1_Silent_p.F1899F|CACNA1E_ENST00000360108.3_Silent_p.F1880F|CACNA1E_ENST00000357570.5_Silent_p.F1850F|CACNA1E_ENST00000367573.2_Silent_p.F1899F|CACNA1E_ENST00000358338.5_Silent_p.F1831F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1899					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCCCATGTTCCAGCGCATGG	0.478000													69	149					0	0	0.003610	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751401	26751401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:26751401C>T	ENST00000396641.2	+	2	830	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	LRRC3B_ENST00000456208.2_Missense_Mutation_p.P80S|LRRC3B_ENST00000417744.1_Missense_Mutation_p.P80S	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	80						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CACATCTATTCCCAATGAAAT	0.403000													21	22					0	0	0.002299	0	0
MUC17	140453	broad.mit.edu	37	7	100679542	100679542	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100679542C>A	ENST00000306151.4	+	3	4909	c.4845C>A	c.(4843-4845)acC>acA	p.T1615T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1615	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)					CATCTACAACCGCTGAAGGTA	0.502000													12	242					0.00010058	0.000187531	0.001368	1	0
CCDC60	160777	broad.mit.edu	37	12	119942885	119942885	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:119942885C>T	ENST00000327554.2	+	7	1125	c.660C>T	c.(658-660)ttC>ttT	p.F220F	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	220										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAAGAAATTCAAAATTCCCA	0.527000													26	35					0	0	0.005443	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718198	142718198	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:142718198C>T	ENST00000381779.4	-	2	952	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	SLITRK4_ENST00000356928.1_Missense_Mutation_p.E243K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E243K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	243	LRRCT 1.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGAGTTTCACAGATAGCT	0.438000													23	9					0	0	0.002299	0	0
PREX1	57580	broad.mit.edu	37	20	47273669	47273669	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:47273669G>A	ENST00000396220.1	-	18	2054	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	PREX1_ENST00000371941.3_Silent_p.L678L			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	678	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AACGGCCGCAGGAACACCAGG	0.607000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	8					0	0	0.001855	0	0
ALB	213	broad.mit.edu	37	4	74279335	74279335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:74279335G>A	ENST00000295897.4	+	8	1131	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	ALB_ENST00000401494.3_Missense_Mutation_p.D233N|ALB_ENST00000503124.1_Missense_Mutation_p.D198N|ALB_ENST00000415165.2_Missense_Mutation_p.D156N|ALB_ENST00000509063.1_Missense_Mutation_p.D348N|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	348	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGAGGCAAAGGATGTCTTCCT	0.413000													33	32					0	0	0.005524	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186880479	186880479	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:186880479C>T	ENST00000367466.3	+	7	668	c.516C>T	c.(514-516)ctC>ctT	p.L172L	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Intron	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	172	PLA2c.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGAAGAAACTCTTGGGTCCAA	0.388000													29	79					0	0	0.002445	0	0
MTMR2	8898	broad.mit.edu	37	11	95590751	95590751	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:95590751T>C	ENST00000393223.3	-	9	1065	c.403A>G	c.(403-405)Aag>Gag	p.K135E	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000409459.1_Missense_Mutation_p.K135E|MTMR2_ENST00000352297.7_Missense_Mutation_p.K135E|MTMR2_ENST00000346299.5_Missense_Mutation_p.K207E	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	207	GRAM.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCATATAGCTTCCACCCATTT	0.318000													5	61					0	0	0.000602	0	0
IGLV3-12	28802	broad.mit.edu	37	22	23114987	23114987	+	RNA	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:23114987A>C	ENST00000390313.2	+	0	268																											CAACCCAGGGAACACCGCCAC	0.572000													5	10					0	0	0.000602	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414677	105414677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:105414677G>A	ENST00000333244.5	-	7	7230	c.7111C>T	c.(7111-7113)Cct>Tct	p.P2371S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2371						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCAGCGGAAGGGGGCTGAACG	0.662000													80	20					0	0	0.003610	0	0
PTCH1	5727	broad.mit.edu	37	9	98220325	98220325	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:98220325G>A	ENST00000430669.2	-	18	3525	c.2940C>T	c.(2938-2940)ttC>ttT	p.F980F	PTCH1_ENST00000375274.2_Silent_p.F1045F|PTCH1_ENST00000331920.6_Silent_p.F1046F|PTCH1_ENST00000437951.1_Silent_p.F980F|PTCH1_ENST00000429896.2_Silent_p.F895F|PTCH1_ENST00000421141.1_Silent_p.F895F|PTCH1_ENST00000418258.1_Silent_p.F895F			Q13635	PTC1_HUMAN	patched 1	1046					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.F1046F(2)|p.I963fs*2(1)|p.F1045F(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGTTCAGAAGGAAGACAGCGC	0.552000													28	7					0	0	0.004656	0	0
SLC35A3	23443	broad.mit.edu	37	1	100464871	100464871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:100464871C>T	ENST00000465289.1	+	3	634	c.242C>T	c.(241-243)cCt>cTt	p.P81L	SLC35A3_ENST00000370153.1_Missense_Mutation_p.P123L|SLC35A3_ENST00000427993.2_Missense_Mutation_p.P81L|SLC35A3_ENST00000370155.3_Missense_Mutation_p.P81L|SLC35A3_ENST00000370156.3_3'UTR	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	81					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CTTAATAAACCTATGGAAACA	0.313000													29	58					0	0	0.001271	0	0
SLC30A8	169026	broad.mit.edu	37	8	118183363	118183363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:118183363C>T	ENST00000427715.2	+	10	1207	c.773C>T	c.(772-774)tCt>tTt	p.S258F	SLC30A8_ENST00000519688.1_Missense_Mutation_p.S258F|SLC30A8_ENST00000521243.1_Missense_Mutation_p.S258F|SLC30A8_ENST00000456015.2_Missense_Mutation_p.S307F	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	307					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CACATCTGGTCTCTAACAATG	0.443000													278	221					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179467100	179467100	+	Silent	SNP	C	C	T	rs62178963	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179467100C>T	ENST00000589042.1	-	283	55253	c.55029G>A	c.(55027-55029)agG>agA	p.R18343R	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Silent_p.R9278R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Silent_p.R16702R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.R9403R|TTN_ENST00000342992.6_Silent_p.R15775R|TTN_ENST00000342175.6_Silent_p.R9470R|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16702	Fibronectin type-III 33.						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)			ATCTGTACTTCCTGAGCTCTT	0.413000													30	54					0	0	0.001512	0	0
OPN3	23596	broad.mit.edu	37	1	241761205	241761205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:241761205G>A	ENST00000366554.2	-	3	894	c.788C>T	c.(787-789)aCc>aTc	p.T263I	OPN3_ENST00000331838.5_Missense_Mutation_p.T184I|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	263					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GACCAGGAAGGTGAATATCAT	0.393000													25	57					0	0	0.005443	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143184	91143184	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:91143184G>A	ENST00000371809.3	+	2	194	c.114G>A	c.(112-114)agG>agA	p.R38R	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	38							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TAGAAAACAGGATCTGGGAAG	0.428000													26	55					0	0	0.001061	0	0
IL21	59067	broad.mit.edu	37	4	123534024	123534024	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:123534024G>A	ENST00000264497.3	-	4	477	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	133					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						GAAGTGATTTGAATCTTTCTA	0.313000													17	37					0	0	0.001216	0	0
BIN2	51411	broad.mit.edu	37	12	51685803	51685803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:51685803G>A	ENST00000267012.4	-	10	1148	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	BIN2_ENST00000452142.2_Missense_Mutation_p.P331S|BIN2_ENST00000604560.1_Missense_Mutation_p.P336S|BIN2_ENST00000544402.1_Missense_Mutation_p.P337S	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	363						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GTGGAGCTGGGGAGAACTTCC	0.617000													21	22					0	0	0.002780	0	0
ADCY1	107	broad.mit.edu	37	7	45753491	45753491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:45753491G>A	ENST00000297323.7	+	20	3279	c.3257G>A	c.(3256-3258)cGt>cAt	p.R1086H		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1086					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAGGGCAGACGTCCCCCCGTG	0.617000													20	26					0	0	0.001216	0	0
ABCC1	4363	broad.mit.edu	37	16	16101673	16101673	+	Splice_Site	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:16101673G>T	ENST00000399408.2	+	2	224	c.48_splice	c.e2-1	p.D17_splice	ABCC1_ENST00000351154.5_Splice_Site_p.D17_splice|ABCC1_ENST00000349029.5_Splice_Site_p.D17_splice|ABCC1_ENST00000345148.5_Splice_Site_p.D17_splice|ABCC1_ENST00000346370.5_Splice_Site_p.D17_splice|ABCC1_ENST00000399410.3_Splice_Site_p.D17_splice			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	17					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)	GTGTTCGCAGGACTGGAATGT	0.557000													14	24					1.49906e-05	2.79553e-05	0.002450	1	0
MYH1	4619	broad.mit.edu	37	17	10401200	10401200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10401200C>T	ENST00000226207.5	-	31	4310	c.4216G>A	c.(4216-4218)Gaa>Aaa	p.E1406K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1406						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						TCTACATGTTCCTCAGCATCC	0.458000													51	13					0	0	0.003610	0	0
GLRB	2743	broad.mit.edu	37	4	158057739	158057739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:158057739G>A	ENST00000264428.4	+	5	686	c.416G>A	c.(415-417)tGg>tAg	p.W139*	GLRB_ENST00000541722.1_Nonsense_Mutation_p.W139*|GLRB_ENST00000509282.1_Nonsense_Mutation_p.W139*|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	139					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AAGTGTTTATGGAAACCTGAT	0.403000													31	55					0	0	0.001786	0	0
IFNGR2	3460	broad.mit.edu	37	21	34793917	34793917	+	Missense_Mutation	SNP	C	C	G	rs121913200		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:34793917C>G	ENST00000290219.6	+	3	985	c.337C>G	c.(337-339)Cta>Gta	p.L113V	IFNGR2_ENST00000381995.1_Missense_Mutation_p.L132V|IFNGR2_ENST00000405436.1_Missense_Mutation_p.L34V	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	113	Fibronectin type-III 1.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CAATGTCACTCTACGCCTTCG	0.493000													29	51					0	0	0.001512	0	0
TENM1	10178	broad.mit.edu	37	X	123779147	123779147	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:123779147C>T	ENST00000422452.2	-	10	1785	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	TENM1_ENST00000371130.3_Silent_p.E574E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGTGTCCTTTCTCGTATTCTC	0.502000													89	14					0	0	0.003610	0	0
C6orf118	168090	broad.mit.edu	37	6	165715313	165715313	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:165715313C>T	ENST00000543069.1	-	2	767	c.186G>A	c.(184-186)cgG>cgA	p.R62R	C6orf118_ENST00000230301.8_Silent_p.R166R			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	166										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CAGGAGGGCCCCGTCCAGGAG	0.632000													18	24					0	0	0.001216	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156723442	156723442	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:156723442A>G	ENST00000507146.1	+	11	1549	c.1049A>G	c.(1048-1050)aAa>aGa	p.K350R	GUCY1B3_ENST00000503520.1_Intron|GUCY1B3_ENST00000505764.1_Intron|GUCY1B3_ENST00000505154.1_Intron|GUCY1B3_ENST00000513437.1_Intron|GUCY1B3_ENST00000264424.8_Intron|GUCY1B3_ENST00000502959.1_Intron			Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	392					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGAAGCACTAAAGGCTTTCCC	0.448000													4	12					0	0	0.000248	0	0
C1orf65	164127	broad.mit.edu	37	1	223568241	223568241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:223568241G>A	ENST00000366875.3	+	1	1527	c.1424G>A	c.(1423-1425)aGg>aAg	p.R475K		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	475										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CGCGAGCTGAGGGAGAAGGCC	0.597000													14	20					0	0	0.002450	0	0
CCR1	1230	broad.mit.edu	37	3	46244938	46244938	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46244938G>A	ENST00000296140.3	-	2	992	c.867C>T	c.(865-867)atC>atT	p.I289I	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	289					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCGTGTAGGCGATCACCTCCG	0.522000													7	13					0	0	0.001984	0	0
EXOC1	55763	broad.mit.edu	37	4	56726626	56726626	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:56726626C>T	ENST00000381295.2	+	3	522	c.174C>T	c.(172-174)tcC>tcT	p.S58S	EXOC1_ENST00000349598.6_Silent_p.S58S|EXOC1_ENST00000346134.7_Silent_p.S58S	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	58					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TCAAGAAATCCGATAAGGGAG	0.418000													28	26					0	0	0.001271	0	0
JARID2	3720	broad.mit.edu	37	6	15496531	15496531	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:15496531G>C	ENST00000341776.2	+	7	1319	c.1075G>C	c.(1075-1077)Gac>Cac	p.D359H	JARID2_ENST00000541660.1_Missense_Mutation_p.D321H|JARID2_ENST00000397311.3_Missense_Mutation_p.D187H	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	359					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ACTGGTCAAGGACACCAAACC	0.512000													14	25					0	0	0.001855	0	0
TRIM22	10346	broad.mit.edu	37	11	5730469	5730469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5730469G>A	ENST00000379965.3	+	8	1365	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	363	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GATGTGTCTGGAAAGATTGCC	0.378000													22	44					0	0	0.003330	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147171	26147171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:26147171G>A	ENST00000331351.5	+	2	1365	c.973G>A	c.(973-975)Gat>Aat	p.D325N	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	325					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CGGGCTGATCGATGCTTCCTG	0.542000													62	68					0	0	0.003610	0	0
UTP20	27340	broad.mit.edu	37	12	101711290	101711290	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:101711290C>A	ENST00000261637.4	+	22	2761	c.2587C>A	c.(2587-2589)Cca>Aca	p.P863T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	863					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCAAGTTGCTCCAACCCAGGA	0.493000													22	29					5.35356e-11	1.0023e-10	0.002780	1	0
TTBK1	84630	broad.mit.edu	37	6	43252050	43252050	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:43252050G>A	ENST00000259750.4	+	14	3655	c.3572_splice	c.e14+1	p.R1191_splice		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1191						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			ATCACCAGCAGGTGAGAAACC	0.662000													6	12					0	0	0.001168	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053556	5053556	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:5053556C>T	ENST00000251170.7	+	11	1464	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	428	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CCCGAGTCTTCCCCGTGCTCT	0.652000													10	22					0	0	0.001368	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76350369	76350369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:76350369G>A	ENST00000307431.8	+	3	527	c.142G>A	c.(142-144)Gag>Aag	p.E48K	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E52K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E24K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E48K|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	49	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGTTCTTCCGAGCTCTCCAG	0.488000													17	23					0	0	0.001523	0	0
FHDC1	85462	broad.mit.edu	37	4	153897156	153897156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:153897156G>A	ENST00000511601.1	+	12	2901	c.2713G>A	c.(2713-2715)Gtc>Atc	p.V905I	FHDC1_ENST00000260008.3_Missense_Mutation_p.V905I			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	905					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)					CATGCGCAAGGTCATGCCCAT	0.687000													15	18					0	0	0.003163	0	0
MYT1L	23040	broad.mit.edu	37	2	1926908	1926908	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1926908G>A	ENST00000399161.2	-	10	1380	c.633C>T	c.(631-633)atC>atT	p.I211I	MYT1L_ENST00000428368.2_Silent_p.I211I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	211					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CATCCTCAGCGATTTTGCCGA	0.438000													34	19					0	0	0.003271	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766752	77766752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:77766752C>T	ENST00000521891.2	+	10	8043	c.7595C>T	c.(7594-7596)cCc>cTc	p.P2532L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2506L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2487L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2487L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2487						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)			TTGGAAAGGCCCATGGACATG	0.527000										HNSCC(33;0.089)			37	101					0	0	0.001287	0	0
ZNF569	148266	broad.mit.edu	37	19	37904621	37904621	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:37904621G>A	ENST00000316950.6	-	6	1496	c.939C>T	c.(937-939)ctC>ctT	p.L313L	ZNF569_ENST00000392149.2_Silent_p.L313L|ZNF569_ENST00000392150.2_Silent_p.L154L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTGCAATGAGGCTTTGCT	0.388000													66	91					0	0	0.003610	0	0
KCNB2	9312	broad.mit.edu	37	8	73848771	73848771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:73848771G>A	ENST00000523207.1	+	3	1769	c.1181G>A	c.(1180-1182)gGg>gAg	p.G394E		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	394					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACATTACTAGGGAAAATTGTG	0.443000													45	41					0	0	0.003610	0	0
MAP3K19	80122	broad.mit.edu	37	2	135740872	135740872	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:135740872G>A	ENST00000392915.1	-	9	3422	c.3303C>T	c.(3301-3303)ttC>ttT	p.F1101F	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375845.3_Intron					mitogen-activated protein kinase kinase kinase 19																		GCTGTTgaaggaagatatttc	0.398000													28	48					0	0	0.001786	0	0
NEB	4703	broad.mit.edu	37	2	152421650	152421650	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:152421650C>T	ENST00000397345.3	-	117	18581	c.18379G>A	c.(18379-18381)Gaa>Aaa	p.E6127K	NEB_ENST00000604864.1_Missense_Mutation_p.E6127K|NEB_ENST00000603639.1_Missense_Mutation_p.E6127K|NEB_ENST00000172853.10_Missense_Mutation_p.E4426K|NEB_ENST00000427231.2_Missense_Mutation_p.E6127K|NEB_ENST00000409198.1_Missense_Mutation_p.E4426K	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6121					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTAAATGTTTCTTTATATTTT	0.299000													6	12					0	0	0.001984	0	0
IQCF1	132141	broad.mit.edu	37	3	51929152	51929152	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:51929152C>A	ENST00000310914.5	-	4	434	c.372G>T	c.(370-372)aaG>aaT	p.K124N		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	124	IQ 2.									central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGCCCACTCCTTCCGGGAGA	0.597000													13	24					7.93312e-07	1.48087e-06	0.002450	1	0
LRP1B	53353	broad.mit.edu	37	2	141806610	141806610	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141806610G>A	ENST00000389484.3	-	11	2705	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	578					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCCAATTAGGAAACTGGTGG	0.428000										TSP Lung(27;0.18)			33	68					0	0	0.002445	0	0
HECW1	23072	broad.mit.edu	37	7	43495908	43495908	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:43495908G>A	ENST00000395891.1	+	13	3118	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R804Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	838	WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R817Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGGAAGCTCGAATTGACAGC	0.517000													23	29					0	0	0.003954	0	0
MCRS1	10445	broad.mit.edu	37	12	49958316	49958316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:49958316G>A	ENST00000550165.1	-	7	771	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	MCRS1_ENST00000357123.4_Missense_Mutation_p.R182W|MCRS1_ENST00000343810.4_Missense_Mutation_p.R169W|MCRS1_ENST00000546244.1_5'UTR			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	169					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TGGACCTCCCGAAGGGTGAAG	0.602000													4	7					0	0	0.000248	0	0
MYH2	4620	broad.mit.edu	37	17	10428095	10428095	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:10428095C>T	ENST00000245503.5	-	34	5334	c.4950G>A	c.(4948-4950)agG>agA	p.R1650R	CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.R1650R|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1650					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTGGGTGTTCCTGTAGTTCC	0.502000													63	13					0	0	0.003610	0	0
MCHR2	84539	broad.mit.edu	37	6	100395740	100395740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:100395740C>T	ENST00000281806.2	-	3	604	c.290G>A	c.(289-291)gGa>gAa	p.G97E	MCHR2_ENST00000369212.1_Missense_Mutation_p.G97E|MCHR2_ENST00000445970.1_Missense_Mutation_p.G97E	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	97						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACCCACTCTCCCCCTCGGGC	0.488000													33	50					0	0	0.002096	0	0
LY75	4065	broad.mit.edu	37	2	160714961	160714961	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:160714961G>A	ENST00000263636.4	-	16	2322	c.2295C>T	c.(2293-2295)ggC>ggT	p.G765G	LY75_ENST00000554112.1_Silent_p.G765G|LY75-CD302_ENST00000505052.1_Silent_p.G765G|LY75-CD302_ENST00000504764.1_Silent_p.G765G|LY75_ENST00000553424.1_Silent_p.G765G	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AGAAATGCCAGCCTCTTCGCC	0.368000													27	33					0	0	0.001061	0	0
LRP1B	53353	broad.mit.edu	37	2	141777515	141777515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141777515C>T	ENST00000389484.3	-	12	2917	c.1946G>A	c.(1945-1947)gGa>gAa	p.G649E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	649					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACCACAATTCCTCTGGGATG	0.358000										TSP Lung(27;0.18)			25	39					0	0	0.001271	0	0
ZNF536	9745	broad.mit.edu	37	19	31039197	31039197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:31039197C>T	ENST00000355537.3	+	4	2818	c.2671C>T	c.(2671-2673)Cct>Tct	p.P891S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CACTGACCTTCCTTCCAAAAG	0.537000													40	57					0	0	0.001706	0	0
KIF21B	23046	broad.mit.edu	37	1	200956032	200956032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:200956032C>T	ENST00000332129.2	-	26	3945	c.3629G>A	c.(3628-3630)cGa>cAa	p.R1210Q	KIF21B_ENST00000422435.2_Missense_Mutation_p.R1210Q|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1210Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1210Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1210					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCTGTGGCTCGAGATTGCCT	0.557000													24	21					0	0	0.005443	0	0
C1orf116	79098	broad.mit.edu	37	1	207195954	207195954	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:207195954G>A	ENST00000359470.5	-	4	1404	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	C1orf116_ENST00000461135.2_Silent_p.S139S	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	385						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					ctggagctggggACAGATGCT	0.622000													25	24					0	0	0.004656	0	0
OOEP	441161	broad.mit.edu	37	6	74079509	74079509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:74079509C>T	ENST00000370359.5	-	1	6	c.7G>A	c.(7-9)Gat>Aat	p.D3N	OOEP-AS1_ENST00000445350.2_RNA|OOEP_ENST00000370363.1_Intron	NM_001080507.2	NP_001073976.1	A6NGQ2	OOEP_HUMAN	oocyte expressed protein	3						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CCAGCATCATCGACCATACTG	0.627000													15	39					0	0	0.002450	0	0
ANAPC1	64682	broad.mit.edu	37	2	112536329	112536329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:112536329G>A	ENST00000341068.3	-	45	6080	c.5308C>T	c.(5308-5310)Ctc>Ttc	p.L1770F		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1770					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GAAGAAAAGAGATCCAGAATT	0.393000													22	77					0	0	0.001485	0	0
PTPRB	5787	broad.mit.edu	37	12	70953393	70953393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:70953393G>A	ENST00000334414.6	-	18	4488	c.4444C>T	c.(4444-4446)Ccc>Tcc	p.P1482S	PTPRB_ENST00000551525.1_Missense_Mutation_p.P1481S|PTPRB_ENST00000261266.5_Missense_Mutation_p.P1264S|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1174S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1394S|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1174S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1174S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1264	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATAAGACTGGGAGGACTTGGA	0.443000													16	20					0	0	0.003163	0	0
SNED1	25992	broad.mit.edu	37	2	242003009	242003009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:242003009G>A	ENST00000310397.8	+	18	2377	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	SNED1_ENST00000405547.3_Missense_Mutation_p.D793N|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.D793N|SNED1_ENST00000342631.6_Missense_Mutation_p.D793N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	793	EGF-like 12; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGCAGAGAGGGATGAGTGCCG	0.612000													5	7					0	0	0.000602	0	0
PDHA2	5161	broad.mit.edu	37	4	96761747	96761747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:96761747G>A	ENST00000295266.4	+	1	509	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	149					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GGAAAAGGAGGATCGATGCAT	0.517000													25	31					0	0	0.003954	0	0
IGHV1-3	28473	broad.mit.edu	37	14	106471664	106471664	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:106471664C>T	ENST00000390595.2	-	0	59																											AAAAGAGGATCCTCCAGGTCC	0.557000													8	3					0	0	0.000978	0	0
MYO3A	53904	broad.mit.edu	37	10	26457766	26457766	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:26457766G>A	ENST00000265944.5	+	28	3403	c.3237G>A	c.(3235-3237)caG>caA	p.Q1079Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1079	IQ 1.				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						AAAAAATACAGGAGAAAAGGA	0.323000													32	49					0	0	0.003271	0	0
PROM2	150696	broad.mit.edu	37	2	95944836	95944836	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:95944836G>A	ENST00000317620.9	+	10	1351	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	PROM2_ENST00000317668.4_Silent_p.E406E|PROM2_ENST00000403131.2_Silent_p.E406E|PROM2_ENST00000542147.1_Silent_p.E406E	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	406						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CACTGCAGGAGGTGGAGGAGA	0.677000													7	9					0	0	0.003080	0	0
ALCAM	214	broad.mit.edu	37	3	105260559	105260559	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:105260559C>T	ENST00000306107.5	+	8	1441	c.941C>T	c.(940-942)tCc>tTc	p.S314F	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Missense_Mutation_p.S314F|ALCAM_ENST00000486979.2_Missense_Mutation_p.S263F	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	314	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TACAAGTGTTCCCTGATAGAC	0.428000													28	30					0	0	0.005443	0	0
KIF11	3832	broad.mit.edu	37	10	94373212	94373212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:94373212C>T	ENST00000260731.3	+	8	958	c.868C>T	c.(868-870)Caa>Taa	p.Q290*		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	290	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAATATAAATCAATCCCTGTT	0.388000													146	229					0	0	0.003610	0	0
DNAI1	27019	broad.mit.edu	37	9	34500829	34500829	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:34500829C>T	ENST00000242317.4	+	11	1182	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	337					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCGTCACTGCCCTCTGCTGGT	0.552000									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	6					0	0	0.001216	0	0
VEZT	55591	broad.mit.edu	37	12	95681522	95681522	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:95681522C>T	ENST00000436874.1	+	9	1516	c.1411C>T	c.(1411-1413)Cta>Tta	p.L471L	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Silent_p.L423L	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	471						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTATCCCATCCTAGAACAGAA	0.388000													4	6					0	0	0.000248	0	0
FBXO30	84085	broad.mit.edu	37	6	146126358	146126358	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:146126358G>A	ENST00000237281.4	-	2	1350	c.1184C>T	c.(1183-1185)tCa>tTa	p.S395L		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	395	F-box.						ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AGACCAACATGAATTAGAAAG	0.388000													58	79					0	0	0.003610	0	0
TRAV6	6956	broad.mit.edu	37	14	22236785	22236785	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22236785G>A	ENST00000390428.3	+	0	57																											CCACATTTGGGGAGACGAATG	0.468000													73	134					0	0	0.003610	0	0
FOSB	2354	broad.mit.edu	37	19	45976161	45976161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:45976161C>T	ENST00000353609.3	+	4	1500	c.908C>T	c.(907-909)tCg>tTg	p.S303L	FOSB_ENST00000585836.1_Missense_Mutation_p.S228L|FOSB_ENST00000592436.1_3'UTR|FOSB_ENST00000417353.2_Missense_Mutation_p.S267L|FOSB_ENST00000592811.1_3'UTR|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Missense_Mutation_p.S264L|FOSB_ENST00000443841.2_Missense_Mutation_p.S160L|FOSB_ENST00000586615.1_Missense_Mutation_p.S254L	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	303					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TACACTTCTTCGTTTGTCCTC	0.617000													34	58					0	0	0.002445	0	0
SLC12A3	6559	broad.mit.edu	37	16	56913534	56913534	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:56913534C>T	ENST00000438926.2	+	11	1445	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	SLC12A3_ENST00000563236.1_Silent_p.C472C|SLC12A3_ENST00000262502.5_Silent_p.C471C|SLC12A3_ENST00000566786.1_Silent_p.C471C	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	472					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCCTGGCCTGCCTTGTCTCTG	0.642000													13	25					0	0	0.004007	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016231	38016231	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:38016231C>T	ENST00000261439.4	+	3	874	c.519C>T	c.(517-519)ttC>ttT	p.F173F	TBC1D1_ENST00000508802.1_Silent_p.F173F	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	173						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CCAAGAAGTTCGAGGTGCTCT	0.627000													46	60					0	0	0.003610	0	0
PSG1	5669	broad.mit.edu	37	19	43376028	43376028	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:43376028C>T	ENST00000244296.2	-	3	737	c.600G>A	c.(598-600)agG>agA	p.R200R	PSG1_ENST00000436291.2_Silent_p.R200R|PSG1_ENST00000595356.1_Silent_p.R200R|PSG1_ENST00000403380.3_Intron|PSG1_ENST00000312439.6_Silent_p.R200R|PSG1_ENST00000595124.1_Intron	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAAAGAGGGTCCTGTTGGTTT	0.522000													98	137					0	0	0.003610	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763887	110763887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:110763887G>A	ENST00000368919.3	-	4	809	c.743C>T	c.(742-744)tCc>tTc	p.S248F	SLC22A16_ENST00000439654.1_Missense_Mutation_p.S248F|SLC22A16_ENST00000330550.4_Missense_Mutation_p.S214F|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	248					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TGCAAAAAAGGAATGCAAATG	0.488000													14	38					0	0	0.002450	0	0
TRPC7	57113	broad.mit.edu	37	5	135692968	135692968	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:135692968C>T	ENST00000513104.1	-	2	390	c.108G>A	c.(106-108)aaG>aaA	p.K36K	TRPC7_ENST00000355180.3_Silent_p.K36K|TRPC7_ENST00000426057.2_Silent_p.K36K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	36					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GACTGGTGCCCTTCTCGTTGA	0.612000													33	16					0	0	0.002836	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960249	33960249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:33960249C>T	ENST00000361328.3	+	8	2458	c.2305C>T	c.(2305-2307)Ctt>Ttt	p.L769F		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	769					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CTATAAATGCCTTGAATGTGG	0.428000													35	66					0	0	0.003271	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119101181	119101181	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:119101181C>T	ENST00000264245.4	+	5	1006	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	158	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATATCGCCTCCTTCAGCAGCA	0.547000													34	55					0	0	0.001951	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239522	2239522	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:2239522C>T	ENST00000343516.6	-	4	380	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	96					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCTTCATGGGCTCCTTCCGGC	0.672000													8	6					0	0	0.000673	0	0
FAM47C	442444	broad.mit.edu	37	X	37026573	37026573	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:37026573C>T	ENST00000358047.3	+	1	142	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	30								p.F30F(3)		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						CCAAGTACTTCGCGAAGCGCA	0.642000													8	1					0	0	0.000443	0	0
C14orf39	317761	broad.mit.edu	37	14	60928118	60928118	+	Silent	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:60928118T>G	ENST00000321731.3	-	13	1230	c.1071A>C	c.(1069-1071)ccA>ccC	p.P357P		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	357										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATTGTTTCTGTGGGGTTAACA	0.274000													33	9					0	0	0.003271	0	0
ABCC8	6833	broad.mit.edu	37	11	17426127	17426127	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17426127G>A	ENST00000302539.4	-	28	3617	c.3492C>T	c.(3490-3492)ttC>ttT	p.F1164F	ABCC8_ENST00000389817.3_Silent_p.F1163F	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1163	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGCCACGAGGAACACAGGTG	0.627000													45	75					0	0	0.003610	0	0
TOX2	84969	broad.mit.edu	37	20	42693416	42693416	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:42693416G>A	ENST00000372999.1	+	7	947		c.e7-1		TOX2_ENST00000341197.3_Splice_Site|TOX2_ENST00000358131.5_Intron|TOX2_ENST00000423191.1_Splice_Site|TOX2_ENST00000435864.2_Splice_Site	NM_032883.2	NP_116272.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GACTCTTCCAGGCCTACAAGA	0.542000													86	43					0	0	0.003610	0	0
CCDC81	60494	broad.mit.edu	37	11	86123497	86123497	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:86123497C>T	ENST00000278487.3	+	10	1571	c.492C>T	c.(490-492)tcC>tcT	p.S164S	CCDC81_ENST00000445632.2_Silent_p.S429S|CCDC81_ENST00000354755.1_Silent_p.S339S|CCDC81_ENST00000528728.1_Silent_p.S164S			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	429										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGGAATATTCCCGGAGTCTCC	0.418000													27	49					0	0	0.001786	0	0
MAB21L3	126868	broad.mit.edu	37	1	116666839	116666839	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:116666839G>A	ENST00000369500.3	+	4	607	c.342G>A	c.(340-342)ctG>ctA	p.L114L	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	114										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						AGCAGTGGCTGGAGGTGGAAC	0.607000													18	27					0	0	0.001216	0	0
MUC16	94025	broad.mit.edu	37	19	9047769	9047769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9047769C>T	ENST00000397910.4	-	5	34065	c.33862G>A	c.(33862-33864)Gaa>Aaa	p.E11288K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11290	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						GTGTCTAATTCACTGTGGGAA	0.478000													21	26					0	0	0.001523	0	0
P4HA1	5033	broad.mit.edu	37	10	74790066	74790066	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:74790066A>G	ENST00000412021.2	-	11	1544	c.1211T>C	c.(1210-1212)cTa>cCa	p.L404P	P4HA1_ENST00000373008.2_Missense_Mutation_p.L404P|P4HA1_ENST00000263556.3_Missense_Mutation_p.L404P|P4HA1_ENST00000440381.1_Missense_Mutation_p.L404P|P4HA1_ENST00000307116.2_Missense_Mutation_p.L404P|P4HA1_ENST00000394890.2_Missense_Mutation_p.L404P	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	404						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGTCCTGTTAGATCTTGTAT	0.363000													26	33					0	0	0.004656	0	0
CD96	10225	broad.mit.edu	37	3	111304183	111304183	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:111304183C>T	ENST00000352690.4	+	5	1005	c.765C>T	c.(763-765)atC>atT	p.I255I	CD96_ENST00000283285.5_Silent_p.I271I|CD96_ENST00000438817.2_Silent_p.I255I	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	271					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AACCAGAAATCCCTGTGATTG	0.403000									Opitz Trigonocephaly syndrome				9	18					0	0	0.000978	0	0
CFAP54	144535	broad.mit.edu	37	12	97078477	97078477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:97078477C>T	ENST00000524981.3	+	8	1121	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L				Q6ZTY8	CL063_HUMAN		348										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GCGTTGCATTCACTTGGAAGT	0.333000													54	83					0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564074	176564074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:176564074C>T	ENST00000367662.3	+	3	2498	c.1334C>T	c.(1333-1335)tCa>tTa	p.S445L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S445L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	445	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						TCTCAGCATTCAAGTGGGGAG	0.537000													39	81					0	0	0.001706	0	0
TPO	7173	broad.mit.edu	37	2	1437351	1437351	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1437351G>A	ENST00000345913.4	+	4	412	c.321G>A	c.(319-321)ctG>ctA	p.L107L	TPO_ENST00000337415.3_Silent_p.L107L|TPO_ENST00000346956.3_Silent_p.L107L|TPO_ENST00000539820.1_Silent_p.L107L|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.L107L|TPO_ENST00000382201.3_Silent_p.L107L|TPO_ENST00000382198.1_Silent_p.L107L|TPO_ENST00000329066.4_Silent_p.L107L|TPO_ENST00000382269.3_Silent_p.L107L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	107					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGTCAACCTGAAAACTCAAC	0.498000													11	17					0	0	0.000978	0	0
TLR3	7098	broad.mit.edu	37	4	187005059	187005059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:187005059G>A	ENST00000296795.2	+	4	2323	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	TLR3_ENST00000504367.1_Missense_Mutation_p.R463Q	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	740					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCAGTACATCGAGTTCTTGGT	0.348000													66	100					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13885242	13885242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13885242C>T	ENST00000265104.4	-	19	2943	c.2839G>A	c.(2839-2841)Gaa>Aaa	p.E947K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	947	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)					ATCTCAGTTTCTTTCTTTTTC	0.428000									Kartagener syndrome				31	38					0	0	0.002836	0	0
PROKR2	128674	broad.mit.edu	37	20	5294603	5294603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:5294603G>A	ENST00000546004.1	-	2	659	c.413C>T	c.(412-414)tCc>tTc	p.S138F	PROKR2_ENST00000217270.3_Missense_Mutation_p.S138F			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	138						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.S138F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GACGTAGAGGGAGACGGTGCG	0.612000										HNSCC(71;0.22)			8	8					0	0	0.003080	0	0
DLG2	1740	broad.mit.edu	37	11	83585526	83585526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:83585526G>A	ENST00000398309.2	-	11	1657	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	DLG2_ENST00000524982.1_Missense_Mutation_p.S396F|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.S150F|DLG2_ENST00000330014.6_Missense_Mutation_p.S335F|DLG2_ENST00000418306.2_Missense_Mutation_p.S293F|DLG2_ENST00000532653.1_Missense_Mutation_p.S396F|DLG2_ENST00000531015.1_Missense_Mutation_p.S363F|DLG2_ENST00000398301.2_Missense_Mutation_p.S435F|DLG2_ENST00000376104.2_Missense_Mutation_p.S501F|DLG2_ENST00000543673.1_Missense_Mutation_p.S501F|DLG2_ENST00000280241.8_Missense_Mutation_p.S435F	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	396						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)				GCTATGTTGGGAATGACTGCA	0.368000													9	24					0	0	0.000443	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543662	141543662	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:141543662G>A	ENST00000442267.2	-	21	3562	c.3488C>T	c.(3487-3489)tCc>tTc	p.S1163F		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1163						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGAGTATGAGGACATGGAGCT	0.642000													22	37					0	0	0.002299	0	0
CASZ1	54897	broad.mit.edu	37	1	10710808	10710808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:10710808C>T	ENST00000377022.3	-	13	3138	c.2821G>A	c.(2821-2823)Gaa>Aaa	p.E941K	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.E941K	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCATTTGATTCGTTGCTAGAA	0.597000													36	47					0	0	0.001287	0	0
RNF20	56254	broad.mit.edu	37	9	104324684	104324684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:104324684C>T	ENST00000389120.3	+	20	2998	c.2908C>T	c.(2908-2910)Cat>Tat	p.H970Y		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	970					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CAATGATTTTCATCGCATCTA	0.448000													27	6					0	0	0.005443	0	0
TET1	80312	broad.mit.edu	37	10	70411644	70411644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:70411644C>T	ENST00000373644.4	+	5	4527	c.4318C>T	c.(4318-4320)Ctt>Ttt	p.L1440F		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1440					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTATACACACCTTGGGGCAGG	0.423000													57	100					0	0	0.003610	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885043	88885043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:88885043C>T	ENST00000319675.3	-	1	1253	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	386								p.R386Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGGTCCTCCCGGACAGCCAT	0.547000													7	43					0	0	0.003080	0	0
TLDC2	140711	broad.mit.edu	37	20	35506362	35506362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:35506362G>A	ENST00000217320.3	+	2	138	c.94G>A	c.(94-96)Gag>Aag	p.E32K	TLDC2_ENST00000602922.1_Missense_Mutation_p.E32K	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		agaggaggaggaggCAGCTCC	0.612000													25	48					0	0	0.003330	0	0
NLRC4	58484	broad.mit.edu	37	2	32476000	32476000	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:32476000T>A	ENST00000404025.2	-	5	1421	c.933A>T	c.(931-933)gaA>gaT	p.E311D	NLRC4_ENST00000402280.1_Missense_Mutation_p.E311D|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.E311D			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	311	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGATCAGCACTTCTCGGATGA	0.527000													27	33					0	0	0.001512	0	0
ZBTB18	10472	broad.mit.edu	37	1	244218166	244218166	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:244218166C>T	ENST00000358704.4	+	2	1239	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18																		GGAGAGCAGTCTGCTCCCCTA	0.612000													10	29					0	0	0.000978	0	0
ANKS3	124401	broad.mit.edu	37	16	4780033	4780033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:4780033G>A	ENST00000304283.4	-	3	412	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000450067.2_5'UTR|ANKS3_ENST00000592711.1_Missense_Mutation_p.H40Y	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	40										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GCAGCTGTGTGAAGATCCAGG	0.582000													39	57					0	0	0.001287	0	0
IGSF8	93185	broad.mit.edu	37	1	160062869	160062869	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160062869G>A	ENST00000368086.1	-	4	1373	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	IGSF8_ENST00000314485.7_Missense_Mutation_p.S386F			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	386	Ig-like C2-type 3.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTATGTTCTGGATGCCACCTT	0.662000													13	14					0	0	0.003163	0	0
ABCC9	10060	broad.mit.edu	37	12	21998657	21998657	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21998657G>A	ENST00000261200.4	-	24	2975	c.2976C>T	c.(2974-2976)ttC>ttT	p.F992F	ABCC9_ENST00000261201.4_Silent_p.F992F|ABCC9_ENST00000345162.2_Silent_p.F956F|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	992					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGATGAGCAGGAAGAATCCTC	0.448000													22	34					0	0	0.001882	0	0
OR51A4	401666	broad.mit.edu	37	11	4968016	4968016	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:4968016G>A	ENST00000380373.2	-	1	340	c.315C>T	c.(313-315)ttC>ttT	p.F105F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCATGAATGAAGAATTCCT	0.443000													53	95					0	0	0.003610	0	0
CYB5RL	606495	broad.mit.edu	37	1	54644876	54644876	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:54644876G>A	ENST00000419823.2	-	6	914	c.690C>T	c.(688-690)ttC>ttT	p.F230F	CYB5RL_ENST00000401046.3_Silent_p.F82F|CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000542737.1_Silent_p.F230F|CYB5RL_ENST00000534324.1_Silent_p.F230F|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000537208.1_Intron	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	230							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GCTCTTGGAGGAAGGTTTTCA	0.488000													12	12					0	0	0.003163	0	0
ZNF253	56242	broad.mit.edu	37	19	19989412	19989412	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:19989412C>T	ENST00000589717.1	+	2	218	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF253_ENST00000355650.4_Intron	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	42	KRAB.				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						ACTTGGTCTTCCTTGGTGAGG	0.358000													43	43					0	0	0.003610	0	0
CACNG3	10368	broad.mit.edu	37	16	24366154	24366154	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:24366154G>A	ENST00000005284.3	+	3	1498	c.295_splice	c.e3-1	p.R99_splice		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	99					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R99Q(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTCTCCGCAGGAGCTGTGAGG	0.637000													16	28					0	0	0.004007	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47633841	47633841	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:47633841C>T	ENST00000371917.4	+	32	4371	c.4371C>T	c.(4369-4371)tcC>tcT	p.S1457S		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1457					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TAGTAATATCCAATGGAGAGA	0.358000													24	87					0	0	0.003954	0	0
OR4D6	219983	broad.mit.edu	37	11	59224979	59224979	+	Silent	SNP	C	C	T	rs146503258		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:59224979C>T	ENST00000300127.2	+	1	569	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GTTATGTGCTCCAGGTGGTAA	0.512000													58	56					0	0	0.003610	0	0
ERG	2078	broad.mit.edu	37	21	39772548	39772548	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:39772548G>A	ENST00000417133.2	-	8	899	c.714C>T	c.(712-714)ttC>ttT	p.F238F	ERG_ENST00000398910.1_Silent_p.F238F|ERG_ENST00000429727.2_Intron|ERG_ENST00000398911.1_Intron|ERG_ENST00000398919.2_Silent_p.F238F|ERG_ENST00000398905.1_Intron|ERG_ENST00000288319.7_Silent_p.F231F|ERG_ENST00000398907.1_Silent_p.F231F|ERG_ENST00000398897.1_Intron|ERG_ENST00000453032.2_Silent_p.F139F|ERG_ENST00000442448.1_Intron	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	238					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AAGTATTTGGGAAAATAAAAG	0.423000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								22	43					0	0	0.001882	0	0
TTC9	23508	broad.mit.edu	37	14	71137855	71137855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:71137855G>A	ENST00000256367.2	+	3	995	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	218							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		CTCCCAGAGAGAAAAAGAAGC	0.557000													11	5					0	0	0.001368	0	0
C3orf20	84077	broad.mit.edu	37	3	14724464	14724464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:14724464G>A	ENST00000253697.3	+	3	696	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	C3orf20_ENST00000412910.1_Intron|C3orf20_ENST00000435614.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	82						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGTGCTCATGGAACCCACCTT	0.607000													18	21					0	0	0.001882	0	0
INHBC	3626	broad.mit.edu	37	12	57828709	57828709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:57828709C>T	ENST00000309668.2	+	1	167	c.40C>T	c.(40-42)Cca>Tca	p.P14S	INHBC_ENST00000550133.1_Missense_Mutation_p.P14S	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	14					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTCCTGGCTCCAACCACAGT	0.602000													10	16					0	0	0.002450	0	0
ZNF334	55713	broad.mit.edu	37	20	45130693	45130693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:45130693C>T	ENST00000457685.2	-	6	2494	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R	ZNF334_ENST00000347606.4_Missense_Mutation_p.G429R|ZNF334_ENST00000593880.1_Missense_Mutation_p.G452R			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGCTTCTCTCCTGTATGACTT	0.393000													82	51					0	0	0.003610	0	0
BAI3	577	broad.mit.edu	37	6	69728382	69728382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:69728382G>A	ENST00000370598.1	+	13	2919	c.2098G>A	c.(2098-2100)Gga>Aga	p.G700R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	700					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G700R(1)		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)				CTTAATGACTGGAAATGTAGG	0.318000													31	34					0	0	0.003271	0	0
FHL2	2274	broad.mit.edu	37	2	106002913	106002913	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:106002913G>A	ENST00000409177.1	-	2	530	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	FHL2_ENST00000393353.3_Silent_p.L21L|FHL2_ENST00000322142.8_Silent_p.L21L|FHL2_ENST00000408995.1_Silent_p.L21L|FHL2_ENST00000336660.5_Silent_p.L21L|FHL2_ENST00000409807.1_Silent_p.L21L|FHL2_ENST00000344213.4_Silent_p.L131L|FHL2_ENST00000358129.4_Silent_p.L21L|FHL2_ENST00000393352.3_Silent_p.L21L|FHL2_ENST00000607522.1_Silent_p.L21L			Q14192	FHL2_HUMAN	four and a half LIM domains 2	21	LIM zinc-binding 2.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TCCTCCCGCAGGATGTACTTC	0.527000													14	41					0	0	0.004007	0	0
LY9	4063	broad.mit.edu	37	1	160786513	160786513	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160786513A>C	ENST00000263285.5	+	5	1232	c.1202A>C	c.(1201-1203)aAg>aCg	p.K401T	LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.K53T|LY9_ENST00000368035.1_Missense_Mutation_p.K53T	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	401	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCGCTGCAGAAGGAAGCTGTT	0.562000													17	17					0	0	0.000958	0	0
PVALB	5816	broad.mit.edu	37	22	37211239	37211239	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37211239G>A	ENST00000216200.5	-	3	157	c.102C>T	c.(100-102)gtC>gtT	p.V34V	PVALB_ENST00000404171.1_Silent_p.V2V|PVALB_ENST00000417718.2_Silent_p.V34V	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	34							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TCTTCAGGCCGACCATTTGGA	0.527000													18	28					0	0	0.000958	0	0
BAIAP3	8938	broad.mit.edu	37	16	1391307	1391307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1391307C>T	ENST00000324385.5	+	8	811	c.653C>T	c.(652-654)cCa>cTa	p.P218L	BAIAP3_ENST00000421665.2_Missense_Mutation_p.P183L|BAIAP3_ENST00000568887.1_Missense_Mutation_p.P155L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.P200L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.P160L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.P200L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.P183L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	218	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TTCAGCGACCCATACTGCATG	0.716000													12	26					0	0	0.000978	0	0
ADCY1	107	broad.mit.edu	37	7	45699727	45699727	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:45699727T>A	ENST00000297323.7	+	7	1416	c.1394T>A	c.(1393-1395)tTc>tAc	p.F465Y	ADCY1_ENST00000432715.1_Missense_Mutation_p.F240Y	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	465					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AGGAACAGTTTCTTGAAAACT	0.473000													24	33					0	0	0.002780	0	0
CXorf66	347487	broad.mit.edu	37	X	139038684	139038684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:139038684C>T	ENST00000370540.1	-	3	480	c.457G>A	c.(457-459)Gga>Aga	p.G153R		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	153	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GTTAACTTTCCTGCACTGTTT	0.413000													103	37					0	0	0.003610	0	0
OR51V1	283111	broad.mit.edu	37	11	5221079	5221079	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5221079G>A	ENST00000321255.1	-	1	851	c.852C>T	c.(850-852)ctC>ctT	p.L284L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTGCCAATGAGAACGTGGG	0.468000													16	25					0	0	0.004990	0	0
CACNA1I	8911	broad.mit.edu	37	22	40038817	40038817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40038817G>A	ENST00000336649.4	+	9	1072	c.1072G>A	c.(1072-1074)Ggc>Agc	p.G358S	CACNA1I_ENST00000402142.3_Missense_Mutation_p.G358S|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G358S|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G358S|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G358S|CACNA1I_ENST00000471970.1_3'UTR|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G358S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	358					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CACTCTGGAAGGCTGGGTGGA	0.562000													3	5					0	0	0.004672	0	0
MSLN	10232	broad.mit.edu	37	16	818649	818649	+	Splice_Site	SNP	G	G	A	rs149124925		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:818649G>A	ENST00000566549.1	+	17	2202	c.1783_splice	c.e17-1	p.E595_splice	MSLN_ENST00000563941.1_Splice_Site_p.E595_splice|MSLN_ENST00000382862.3_Splice_Site_p.E603_splice|MSLN_ENST00000545450.2_Splice_Site_p.E595_splice			Q13421	MSLN_HUMAN	mesothelin	603					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCTCTGTAGAGGCCCTCTCGG	0.697000													14	18					0	0	0.003163	0	0
GJA10	84694	broad.mit.edu	37	6	90604403	90604403	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:90604403C>T	ENST00000369352.1	+	1	216	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	72					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CATTCCCTATCTCTTTGATCA	0.463000													16	23					0	0	0.003163	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381321	55381321	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:55381321C>T	ENST00000398661.2	-	5	599	c.468G>A	c.(466-468)caG>caA	p.Q156Q	HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000274901.4_Silent_p.Q126Q|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	156							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTGAAAACCCTGAAGATTAG	0.333000													31	56					0	0	0.004289	0	0
ADAD1	132612	broad.mit.edu	37	4	123301332	123301332	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:123301332C>T	ENST00000296513.2	+	3	293	c.108C>T	c.(106-108)ccC>ccT	p.P36P	ADAD1_ENST00000388725.2_Silent_p.P18P|ADAD1_ENST00000388724.2_Silent_p.P36P	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	36					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TAACTACACCCACAGGATGGT	0.473000													22	36					0	0	0.003954	0	0
HYDIN	54768	broad.mit.edu	37	16	70866801	70866801	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70866801G>A	ENST00000393567.2	-	80	13999	c.13849C>T	c.(13849-13851)Ctg>Ttg	p.L4617L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4617										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTAGACTCAGAGGACTGCCT	0.557000													14	20					0	0	0.003954	0	0
SYNE1	23345	broad.mit.edu	37	6	152651277	152651277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:152651277G>A	ENST00000367255.5	-	78	15144	c.14543C>T	c.(14542-14544)cCc>cTc	p.P4848L	SYNE1_ENST00000341594.5_Missense_Mutation_p.P4595L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P4777L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P4848L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P4777L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4848					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)		ATAAGCCAAGGGGTCAAGGTG	0.493000										HNSCC(10;0.0054)			13	20					0	0	0.001368	0	0
OR2T2	401992	broad.mit.edu	37	1	248616137	248616137	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248616137C>T	ENST00000342927.3	+	1	61	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACTAACTTCGTCCTCACAG	0.507000													44	115					0	0	0.003610	0	0
LDB2	9079	broad.mit.edu	37	4	16597475	16597475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:16597475G>A	ENST00000502640.1	-	3	407	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000441778.2_Missense_Mutation_p.R87C|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000304523.5_Missense_Mutation_p.R87C|LDB2_ENST00000515064.1_Missense_Mutation_p.R87C			O43679	LDB2_HUMAN	LIM domain binding 2	87							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTAAAGTAACGGGGGATGAGG	0.483000													10	21					0	0	0.000673	0	0
KCNB2	9312	broad.mit.edu	37	8	73848772	73848772	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:73848772G>A	ENST00000523207.1	+	3	1770	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	394					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CATTACTAGGGAAAATTGTGG	0.438000													45	41					0	0	0.003610	0	0
LOC150776	150776	broad.mit.edu	37	2	132277885	132277885	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:132277885C>T	ENST00000438378.2	+	0	2524					NR_026922.1																						TCTTCGTGGCCTCTCTGTTCT	0.682000													3	0					0	0	0.000248	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175772	71175772	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:71175772C>T	ENST00000333538.5	+	10	2161	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	509	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.F509L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGGAAGGCTTCCTGCACTTGG	0.632000													26	40					0	0	0.001061	0	0
PPM1E	22843	broad.mit.edu	37	17	57043207	57043207	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:57043207G>T	ENST00000308249.2	+	3	865	c.736G>T	c.(736-738)Gac>Tac	p.D246Y		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	255					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GAAAATGGAGGACAAACATGT	0.448000													54	12					2.23044e-30	4.20404e-30	0.003610	1	0
PCDH15	65217	broad.mit.edu	37	10	55570336	55570336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:55570336C>T	ENST00000373965.2	-	35	4877	c.4483G>A	c.(4483-4485)Gaa>Aaa	p.E1495K	PCDH15_ENST00000395445.1_Missense_Mutation_p.E1495K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1492K|PCDH15_ENST00000409834.1_Silent_p.R1122R|PCDH15_ENST00000395438.1_Silent_p.R1511R|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					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)				TCATATTCTTCCTCAGCTTCA	0.393000										HNSCC(58;0.16)			71	86					0	0	0.003610	0	0
DPYD	1806	broad.mit.edu	37	1	98144734	98144734	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:98144734A>T	ENST00000370192.3	-	8	867	c.767T>A	c.(766-768)aTt>aAt	p.I256N		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	256					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTACCGCAAATTATCTATAA	0.284000													4	15					0	0	0.000602	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996075	43996075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:43996075G>A	ENST00000262726.7	-	23	3003	c.2750C>T	c.(2749-2751)tCg>tTg	p.S917L	EFCAB6_ENST00000396231.2_Missense_Mutation_p.S765L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	917	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GACAGCAGGCGAATAGTTAAT	0.428000													89	131					0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117674323	117674323	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117674323G>C	ENST00000368508.3	-	26	4349	c.4151C>G	c.(4150-4152)aCc>aGc	p.T1384S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.T1378S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1384					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCTAACAAGGGTTTTTCCTGC	0.308000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								11	29					0	0	0.001368	0	0
OR1L6	392390	broad.mit.edu	37	9	125512228	125512228	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:125512228C>T	ENST00000373684.1	+	1	210	c.210C>T	c.(208-210)atC>atT	p.I70I	OR1L6_ENST00000304720.2_Silent_p.I34I			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TCTTCCTCATCATGTACCTGC	0.532000													82	26					0	0	0.003610	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820403	35820403	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:35820403C>T	ENST00000399989.1	+	2	369	c.90C>T	c.(88-90)gtC>gtT	p.V30V	MAGEB16_ENST00000399988.1_Silent_p.V30V|MAGEB16_ENST00000399992.1_Silent_p.V62V|MAGEB16_ENST00000399987.1_Silent_p.V30V|MAGEB16_ENST00000399985.1_Silent_p.V30V	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	30										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTGCACAGGTCTCCAAGGCTC	0.557000													17	3					0	0	0.004007	0	0
PDS5A	23244	broad.mit.edu	37	4	39871032	39871032	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:39871032G>A	ENST00000303538.8	-	22	3026	c.2487C>T	c.(2485-2487)tcC>tcT	p.S829S		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	829					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GTACTTCAGGGGAAACCTCTT	0.303000													60	105					0	0	0.003610	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506908	74506908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:74506908C>T	ENST00000354431.4	-	7	1898	c.1707G>A	c.(1705-1707)atG>atA	p.M569I	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.M569I	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	569										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TAACTTTTTTCATTTCTTTAA	0.294000													18	43					0	0	0.006122	0	0
EHMT1	79813	broad.mit.edu	37	9	140638380	140638380	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:140638380C>T	ENST00000460843.1	+	6	1035	c.1008C>T	c.(1006-1008)agC>agT	p.S336S	EHMT1_ENST00000462484.1_Silent_p.S336S|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.S305S	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	336					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)		GCGCCAGCAGCCTGCACGTGA	0.612000													14	2					0	0	0.002450	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586370	15586370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15586370C>T	ENST00000292609.4	-	2	1240	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.E371K			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	371					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TCAGTGAATTCCTTGGTAGCA	0.562000													62	93					0	0	0.003610	0	0
DPYS	1807	broad.mit.edu	37	8	105440310	105440310	+	Silent	SNP	G	G	A	rs141994148		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:105440310G>A	ENST00000351513.2	-	6	1122	c.990C>T	c.(988-990)ttC>ttT	p.F330F		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	330					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GGCAGGTGTTGAAAGTGCAGT	0.433000													65	32					0	0	0.003610	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559889	44559889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:44559889C>T	ENST00000332567.4	-	1	2099	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	583	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCGTAATTCGTCTGTCTCT	0.517000													19	30					0	0	0.001216	0	0
TMCC2	9911	broad.mit.edu	37	1	205241102	205241102	+	Silent	SNP	C	C	T	rs150035205		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:205241102C>T	ENST00000358024.3	+	5	2369	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	TMCC2_ENST00000545499.1_Silent_p.F582F|TMCC2_ENST00000330675.7_Silent_p.F435F|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Silent_p.F420F	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	660						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGCTGGTGTTCGTGTCCACCA	0.622000													30	60					0	0	0.002445	0	0
C8B	732	broad.mit.edu	37	1	57411647	57411647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:57411647G>A	ENST00000543257.1	-	8	1362	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	C8B_ENST00000371237.4_Missense_Mutation_p.L318F|C8B_ENST00000535057.1_Missense_Mutation_p.L256F	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	318	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTCTCTGAAGGAACTCGTAA	0.483000													23	34					0	0	0.002299	0	0
UBE2F	140739	broad.mit.edu	37	2	238939237	238939237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:238939237C>T	ENST00000272930.4	+	7	588	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	UBE2F-SCLY_ENST00000449191.1_Intron|UBE2F_ENST00000409953.1_Missense_Mutation_p.P108S|UBE2F_ENST00000409332.1_Missense_Mutation_p.P110S|UBE2F_ENST00000409633.1_Missense_Mutation_p.P132S|UBE2F_ENST00000414443.1_Missense_Mutation_p.P100S	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	132					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		TGGCTGGGCTCCCACAAGAAC	0.507000													10	8					0	0	0.001855	0	0
SAGE1	55511	broad.mit.edu	37	X	134992272	134992272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:134992272C>T	ENST00000535938.1	+	15	1974	c.1807C>T	c.(1807-1809)Cca>Tca	p.P603S	SAGE1_ENST00000537770.1_Missense_Mutation_p.P227S|SAGE1_ENST00000370709.3_Missense_Mutation_p.P603S|SAGE1_ENST00000324447.3_Missense_Mutation_p.P603S	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	603										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GACTGTTCCACCAGCATTTAT	0.403000													44	10					0	0	0.003214	0	0
ETS1	2113	broad.mit.edu	37	11	128354878	128354878	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:128354878G>A	ENST00000392668.3	-	7	770	c.702C>T	c.(700-702)ccC>ccT	p.P234P	ETS1_ENST00000526145.1_Silent_p.P190P|ETS1_ENST00000531611.1_Silent_p.P190P|ETS1_ENST00000345075.4_Silent_p.P190P|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000319397.5_Silent_p.P190P	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	190					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CCGAGCTGATGGGATGGAGCG	0.522000													48	50					0	0	0.003610	0	0
OVOL2	58495	broad.mit.edu	37	20	18005396	18005396	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:18005396G>C	ENST00000278780.6	-	4	954	c.712C>G	c.(712-714)Ccg>Gcg	p.P238A	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	238					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GAGCTGCCCGGATGGGCACTG	0.577000													16	1					0	0	0.004007	0	0
DPYSL4	10570	broad.mit.edu	37	10	134013999	134013999	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:134013999C>T	ENST00000338492.4	+	9	1115	c.951C>T	c.(949-951)ctC>ctT	p.L317L	DPYSL4_ENST00000368627.1_Silent_p.L217L|DPYSL4_ENST00000368629.1_Silent_p.L217L	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	317					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGGACCACCTCACCTGCTTGC	0.667000													9	16					0	0	0.000673	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351534	36351534	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:36351534G>A	ENST00000360202.5	+	7	1091	c.893G>A	c.(892-894)gGt>gAt	p.G298D	KIRREL2_ENST00000347900.6_Missense_Mutation_p.G248D|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G278D|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G298D|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G298D	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	298	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	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)			AACGCCGTGGGTAGCGCCAAC	0.672000													26	54					0	0	0.001786	0	0
ABCA4	24	broad.mit.edu	37	1	94577031	94577031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:94577031C>T	ENST00000370225.3	-	3	351	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	ABCA4_ENST00000535735.1_Missense_Mutation_p.E89K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	89					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCAGGAGATTCTCCTGGGGTG	0.512000													14	13					0	0	0.001855	0	0
EPPK1	83481	broad.mit.edu	37	8	144943558	144943558	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144943558G>A	ENST00000525985.1	-	2	3935	c.3864C>T	c.(3862-3864)ttC>ttT	p.F1288F				P58107	EPIPL_HUMAN	epiplakin 1	1288						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTCAACAAGGAAGCCAGATG	0.667000													32	30					0	0	0.002836	0	0
TLR10	81793	broad.mit.edu	37	4	38774959	38774959	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:38774959T>A	ENST00000308973.4	-	4	2858	c.2253A>T	c.(2251-2253)aaA>aaT	p.K751N	TLR10_ENST00000506111.1_Missense_Mutation_p.K751N|TLR10_ENST00000508334.1_Missense_Mutation_p.K751N|TLR10_ENST00000361424.2_Missense_Mutation_p.K751N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	751	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AGTATGCTTTTTTTTCCAGGA	0.393000													32	33					0	0	0.003271	0	0
FAM83F	113828	broad.mit.edu	37	22	40417334	40417334	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:40417334C>T	ENST00000333407.5	+	4	914	c.820C>T	c.(820-822)Ctg>Ttg	p.L274L	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	274										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AAACCTCCTCCTGCTCCTGAC	0.597000													41	70					0	0	0.002522	0	0
TFB2M	64216	broad.mit.edu	37	1	246714589	246714589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:246714589G>A	ENST00000366514.4	-	5	906	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	241					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			GGATTTCCGGGATCTGCCATT	0.308000													33	63					0	0	0.004289	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415401	210415401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:210415401G>A	ENST00000367012.3	+	4	1020	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	264							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		ACCTGCCAATGAAATCTTTGT	0.448000													9	38					0	0	0.000673	0	0
ATP1A1	476	broad.mit.edu	37	1	116932243	116932243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:116932243C>T	ENST00000537345.1	+	8	1300	c.937C>T	c.(937-939)Ctt>Ttt	p.L313F	ATP1A1_ENST00000295598.5_Missense_Mutation_p.L313F|ATP1A1_ENST00000369496.4_Missense_Mutation_p.L282F|ATP1A1_ENST00000491156.1_3'UTR	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	313					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TTCTCTCATCCTTGAGTACAC	0.512000													30	26					0	0	0.001271	0	0
PTH1R	5745	broad.mit.edu	37	3	46944924	46944924	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:46944924C>T	ENST00000313049.5	+	14	1763	c.1560C>T	c.(1558-1560)ccC>ccT	p.P520P	PTH1R_ENST00000430002.2_Silent_p.P520P|PTH1R_ENST00000418619.1_Silent_p.P520P|PTH1R_ENST00000449590.1_Silent_p.P520P			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	520						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CCCTCAGCCCCCGCCTACTGC	0.682000													13	18					0	0	0.001855	0	0
DSG1	1828	broad.mit.edu	37	18	28923418	28923418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:28923418C>T	ENST00000257192.4	+	12	1905	c.1693C>T	c.(1693-1695)Cca>Tca	p.P565S	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	565					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCAGTGGTCCCATTTTTGAT	0.418000													46	102					0	0	0.003610	0	0
TEC	7006	broad.mit.edu	37	4	48169925	48169925	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:48169925C>T	ENST00000381501.3	-	7	698	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	181	SH3.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ACGATTTCTTCACTATTATCT	0.383000													35	47					0	0	0.001287	0	0
ZBBX	79740	broad.mit.edu	37	3	167000208	167000208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:167000208G>A	ENST00000392766.2	-	19	2295	c.1955C>T	c.(1954-1956)tCa>tTa	p.S652L	ZBBX_ENST00000392767.2_Missense_Mutation_p.S652L|ZBBX_ENST00000307529.5_Missense_Mutation_p.S691L|ZBBX_ENST00000455345.2_Missense_Mutation_p.S691L|ZBBX_ENST00000392764.1_Missense_Mutation_p.S623L	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	652	Ser-rich.					intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATGAGAGGATGAAAGGCAACT	0.353000													65	102					0	0	0.003610	0	0
HTN1	3346	broad.mit.edu	37	4	70918796	70918796	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:70918796G>A	ENST00000511674.1	+	2	74	c.3G>A	c.(1-3)atG>atA	p.M1I	HTN1_ENST00000246896.3_Start_Codon_SNP_p.M1I			P15515	HIS1_HUMAN	histatin 1	1					biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						AGCCAACTATGAAGTTTTTTG	0.313000													16	29					0	0	0.006122	0	0
SEPP1	6414	broad.mit.edu	37	5	42801031	42801031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:42801031C>T	ENST00000514985.1	-	5	1193	c.937G>A	c.(937-939)Ggg>Agg	p.G313R	SEPP1_ENST00000509276.1_5'UTR|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000511224.1_Missense_Mutation_p.G313R|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.G313R	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	313					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						ATTGCAGACCCTGTTTTTTCA	0.433000													38	47					0	0	0.001287	0	0
OR52J3	119679	broad.mit.edu	37	11	5068338	5068338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5068338C>T	ENST00000380370.1	+	1	583	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGAAACATTCGTATCAATGG	0.438000													52	64					0	0	0.003610	0	0
LRCH2	57631	broad.mit.edu	37	X	114347894	114347894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:114347894C>T	ENST00000317135.8	-	21	2213	c.2183G>A	c.(2182-2184)aGa>aAa	p.R728K	LRCH2_ENST00000538422.1_Missense_Mutation_p.R711K	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	728	CH.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CAAACAAAGTCTTTCCTGGAG	0.328000													13	5					0	0	0.002450	0	0
PTPN3	5774	broad.mit.edu	37	9	112225638	112225638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:112225638C>T	ENST00000374541.2	-	2	181	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	PTPN3_ENST00000262539.3_5'UTR	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	26					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GACTTCTGATCGAGTTTTCTC	0.388000													89	21					0	0	0.003610	0	0
LRCH4	4034	broad.mit.edu	37	7	100175318	100175318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:100175318G>A	ENST00000310300.6	-	9	1137	c.1085C>T	c.(1084-1086)cCc>cTc	p.P362L	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	362					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATCCTCCCCGGGGACATGGCT	0.662000													40	87					0	0	0.003610	0	0
B3GNT7	93010	broad.mit.edu	37	2	232262809	232262809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:232262809C>T	ENST00000287590.5	+	2	640	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	127					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCTGAACCACCCGGAGAAGTG	0.642000													9	20					0	0	0.000673	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276182	15276182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:15276182G>A	ENST00000263388.2	-	31	5887	c.5812C>T	c.(5812-5814)Ctt>Ttt	p.L1938F		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1938					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AACCTACCAAGCTCATCCACA	0.557000													23	34					0	0	0.001061	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514445	50514445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:50514445G>A	ENST00000419119.1	-	2	2094	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	FIGNL1_ENST00000433017.1_Missense_Mutation_p.R181C|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R181C|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R181C			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	181					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.R181S(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AGTTTCAAACGATTGCTCTCC	0.468000													69	111					0	0	0.003610	0	0
FAM217B	63939	broad.mit.edu	37	20	58519433	58519433	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:58519433C>T	ENST00000358293.3	+	5	850	c.435C>T	c.(433-435)ttC>ttT	p.F145F	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Silent_p.F145F	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	145																	ATCCTAATTTCCTTCCATCCC	0.483000													20	50					0	0	0.001216	0	0
NHLRC1	378884	broad.mit.edu	37	6	18121870	18121870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:18121870G>A	ENST00000340650.3	-	1	981	c.968C>T	c.(967-969)tCc>tTc	p.S323F		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	323					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGTCACAGCGGAGGCAGTTAT	0.488000													28	46					0	0	0.001512	0	0
PAK3	5063	broad.mit.edu	37	X	110439848	110439848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:110439848C>T	ENST00000519681.1	+	17	1892	c.1450C>T	c.(1450-1452)Ctt>Ttt	p.L484F	PAK3_ENST00000518291.1_Missense_Mutation_p.L499F|PAK3_ENST00000425146.1_Missense_Mutation_p.L463F|PAK3_ENST00000360648.4_Missense_Mutation_p.L499F|PAK3_ENST00000446737.1_Missense_Mutation_p.L463F|PAK3_ENST00000372010.1_Missense_Mutation_p.L478F|PAK3_ENST00000262836.4_Missense_Mutation_p.L478F|PAK3_ENST00000372007.4_Missense_Mutation_p.L463F|PAK3_ENST00000417227.1_Missense_Mutation_p.L484F			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	478	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ACCCCCTTACCTTAATGAAAA	0.438000										TSP Lung(19;0.15)			25	5					0	0	0.001061	0	0
UBE4A	9354	broad.mit.edu	37	11	118255600	118255600	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:118255600C>T	ENST00000252108.3	+	15	2483	c.2352C>T	c.(2350-2352)ttC>ttT	p.F784F	UBE4A_ENST00000431736.2_Silent_p.F791F|UBE4A_ENST00000545354.1_Silent_p.F256F	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	784					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCCCACTTTTCCTCCGCTTTC	0.363000													63	68					0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175063163	175063163	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:175063163G>A	ENST00000239462.4	+	7	1475	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	454	Fibronectin type-III 3.				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)		CTGATCGAGTGACTGAAGACA	0.438000													32	30					0	0	0.003271	0	0
ZC3H13	23091	broad.mit.edu	37	13	46543265	46543265	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:46543265G>A	ENST00000242848.4	-	14	3762	c.3414C>T	c.(3412-3414)tcC>tcT	p.S1138S	ZC3H13_ENST00000282007.3_Silent_p.S1138S|ZC3H13_ENST00000378921.2_Silent_p.S94S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1138							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tggcagaggtggaaatagtga	0.512000													24	30					0	0	0.002299	0	0
OR4C3	256144	broad.mit.edu	37	11	48346606	48346606	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:48346606C>T	ENST00000319856.4	+	1	135	c.114C>T	c.(112-114)ttC>ttT	p.F38F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CAGAATTTTTCATGCTGGGGC	0.418000													34	47					0	0	0.002836	0	0
MCTP1	79772	broad.mit.edu	37	5	94275873	94275873	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:94275873T>A	ENST00000515393.1	-	5	1087	c.1088A>T	c.(1087-1089)aAa>aTa	p.K363I	MCTP1_ENST00000312216.8_Missense_Mutation_p.K142I|MCTP1_ENST00000429576.2_Missense_Mutation_p.K142I|MCTP1_ENST00000505208.1_Missense_Mutation_p.K142I	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	363					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)		ATGAGGATCTTTCAGAGTAAG	0.373000													50	22					0	0	0.003610	0	0
AMPD1	270	broad.mit.edu	37	1	115215893	115215893	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:115215893C>T	ENST00000369538.3	-	15	2220	c.2172_splice	c.e15-1	p.E725_splice	AMPD1_ENST00000520113.2_Splice_Site_p.E729_splice|AMPD1_ENST00000353928.6_Splice_Site_p.E696_splice	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	696					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTTACTTTCTCCTATAAGAGA	0.418000													29	43					0	0	0.002096	0	0
GLI3	2737	broad.mit.edu	37	7	42116431	42116431	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:42116431G>A	ENST00000395925.3	-	4	477	c.393C>T	c.(391-393)ttC>ttT	p.F131F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	131					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						CAGGAGGATGGAAGGCAGGGA	0.423000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				24	28					0	0	0.004656	0	0
USH2A	7399	broad.mit.edu	37	1	215848027	215848027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:215848027G>A	ENST00000366943.2	-	63	13612	c.13226C>T	c.(13225-13227)tCc>tTc	p.S4409F	USH2A_ENST00000307340.3_Missense_Mutation_p.S4409F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4409	Fibronectin type-III 29.				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)		CTGCAGGTGGGAAACCAGCAG	0.483000										HNSCC(13;0.011)			24	62					0	0	0.005443	0	0
RANBP2	5903	broad.mit.edu	37	2	109383802	109383802	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:109383802C>T	ENST00000283195.6	+	20	6933	c.6807C>T	c.(6805-6807)ttC>ttT	p.F2269F		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2269					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATTTAACTTCAGTTTTAAAT	0.408000													119	173					0	0	0.003610	0	0
ENPEP	2028	broad.mit.edu	37	4	111470937	111470937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:111470937C>T	ENST00000265162.5	+	17	2738	c.2396C>T	c.(2395-2397)tCa>tTa	p.S799L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	799					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AATGAGATTTCATGGAACTAC	0.398000													31	42					0	0	0.003271	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	161969	161969	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:161969C>T	ENST00000283426.6	+	10	1541	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	497					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)		TCCAGGATTTCAGAAGGGGCC	0.587000													13	25					0	0	0.002450	0	0
TMEM8A	58986	broad.mit.edu	37	16	426150	426150	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:426150G>A	ENST00000431232.2	-	6	1370	c.1210C>T	c.(1210-1212)Ctg>Ttg	p.L404L	TMEM8A_ENST00000250930.3_Silent_p.L211L	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	404					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TTGGCCCGCAGGGAGATGGTG	0.677000													5	9					0	0	0.001168	0	0
NMD3	51068	broad.mit.edu	37	3	160965057	160965057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:160965057C>T	ENST00000460469.1	+	12	1597	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	NMD3_ENST00000351193.2_Missense_Mutation_p.A381V|NMD3_ENST00000472947.1_Missense_Mutation_p.A381V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	381					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TTTGATTTGGCCAACTGTAAC	0.328000													13	35					0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9069052	9069052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9069052C>T	ENST00000397910.4	-	3	18597	c.18394G>A	c.(18394-18396)Gac>Aac	p.D6132N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6134	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						GGTGAAATGTCTGGGGACTTT	0.507000													15	18					0	0	0.004007	0	0
HP	3240	broad.mit.edu	37	16	72094655	72094655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:72094655G>A	ENST00000355906.5	+	7	1145	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	HP_ENST00000565574.1_Missense_Mutation_p.D304N|HP_ENST00000398131.2_Missense_Mutation_p.D304N|HP_ENST00000570083.1_Missense_Mutation_p.D304N|HP_ENST00000562526.1_3'UTR|HPR_ENST00000356967.5_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	363	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TGCCGTTCACGACCTGGAGGA	0.522000													38	60					0	0	0.002852	0	0
TTN	7273	broad.mit.edu	37	2	179395285	179395285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179395285C>T	ENST00000589042.1	-	358	106281	c.106057G>A	c.(106057-106059)Gat>Aat	p.D35353N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D26288N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33712N|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26413N|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D32785N|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26480N|TTN-AS1_ENST00000588716.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33712							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)			TCTCCTTGATCAGATTCAGTG	0.383000													46	70					0	0	0.003610	0	0
SLIT3	6586	broad.mit.edu	37	5	168096814	168096814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:168096814C>T	ENST00000519560.1	-	35	4729	c.4310G>A	c.(4309-4311)gGc>gAc	p.G1437D	SLIT3_ENST00000404867.3_Missense_Mutation_p.G1437D|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1444D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1437	EGF-like 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCGCTAAAGCCGGGCTGGCA	0.577000													6	6					0	0	0.001984	0	0
FKBP8	23770	broad.mit.edu	37	19	18652665	18652665	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:18652665T>A	ENST00000597960.2	-	2	236	c.116A>T	c.(115-117)gAg>gTg	p.E39V	FKBP8_ENST00000544835.2_Missense_Mutation_p.E39V|FKBP8_ENST00000453489.2_Missense_Mutation_p.E68V|FKBP8_ENST00000222308.3_Missense_Mutation_p.E39V|FKBP8_ENST00000596558.1_Missense_Mutation_p.E39V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	39	Glu-rich.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ttcctcctcctcttcctcctc	0.662000													5	9					0	0	0.001168	0	0
SYK	6850	broad.mit.edu	37	9	93650881	93650881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:93650881G>A	ENST00000375754.4	+	13	1955	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	SYK_ENST00000375747.1_Missense_Mutation_p.D580N|SYK_ENST00000375751.4_Missense_Mutation_p.D580N|SYK_ENST00000375746.1_Missense_Mutation_p.D603N	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	603	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.D580H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGAGATGTACGATCTCATGAA	0.478000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								14	4					0	0	0.003163	0	0
GPR123	84435	broad.mit.edu	37	10	134886493	134886493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:134886493G>A	ENST00000607359.1	+	3	527	c.527G>A	c.(526-528)gGg>gAg	p.G176E				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ATTGCTTCTGGGAACAGTGTT	0.552000													5	8					0	0	0.001168	0	0
KCNA6	3742	broad.mit.edu	37	12	4919844	4919844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:4919844C>T	ENST00000433855.1	+	1	1503	c.637C>T	c.(637-639)Cga>Tga	p.R213*	KCNA6_ENST00000280684.3_Nonsense_Mutation_p.R213*	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	213						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TGGTGTGAGTCGAGTCTCCCC	0.532000										HNSCC(72;0.22)			15	18					0	0	0.002450	0	0
SCN11A	11280	broad.mit.edu	37	3	38892168	38892168	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38892168G>A	ENST00000450244.1	-	25	4329	c.4131C>T	c.(4129-4131)atC>atT	p.I1377I	SCN11A_ENST00000456224.3_Silent_p.I1339I|SCN11A_ENST00000444237.2_Silent_p.I1377I|SCN11A_ENST00000302328.3_Silent_p.I1377I			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1377					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCATGTTTAGGATAATGAGAC	0.378000													37	45					0	0	0.005524	0	0
MMP3	4314	broad.mit.edu	37	11	102713201	102713201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:102713201C>T	ENST00000299855.5	-	3	716	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	154					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GCCTCTCCTTCATACAGCCTG	0.348000													37	57					0	0	0.002222	0	0
TRIML1	339976	broad.mit.edu	37	4	189060889	189060889	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:189060889C>T	ENST00000332517.3	+	1	317	c.177C>T	c.(175-177)acC>acT	p.T59T		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	59					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCTGGAGGACCTTGGAGGGCC	0.602000													36	46					0	0	0.004289	0	0
NLRP8	126205	broad.mit.edu	37	19	56487507	56487507	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:56487507A>T	ENST00000291971.3	+	8	2785	c.2714A>T	c.(2713-2715)aAg>aTg	p.K905M	NLRP8_ENST00000590542.1_Missense_Mutation_p.K886M	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	905						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGACTGAGAAAGTGTGACTTG	0.358000													15	38					0	0	0.004007	0	0
CORIN	10699	broad.mit.edu	37	4	47625725	47625725	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:47625725C>T	ENST00000273857.4	-	19	2402	c.2403G>A	c.(2401-2403)agG>agA	p.R801R	CORIN_ENST00000505909.1_Silent_p.R764R|CORIN_ENST00000502252.1_Silent_p.R734R|CORIN_ENST00000508498.1_Silent_p.R662R|CORIN_ENST00000515827.1_5'UTR	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	801	SRCR.	Cleavage (Probable).			peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTCCAAGGATCCTTTTGTTCA	0.542000													23	48					0	0	0.004656	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535652	90535652	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:90535652C>T	ENST00000602681.1	+	0	1556																											GCTTCTGTCCCAGCCATCTCA	0.547000													79	12					0	0	0.003610	0	0
ADAM30	11085	broad.mit.edu	37	1	120437545	120437545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:120437545C>T	ENST00000369400.1	-	1	1573	c.1415G>A	c.(1414-1416)gGg>gAg	p.G472E		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	472	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ACTTGAATTCCCGTCGCAGTA	0.473000													177	238					0	0	0.003610	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049382	36049382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:36049382G>A	ENST00000282507.3	-	4	553	c.452C>T	c.(451-453)cCt>cTt	p.P151L	UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P117L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	151						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATCAGGAAAGGACAGTAGTC	0.408000													30	43					0	0	0.001786	0	0
USH1C	10083	broad.mit.edu	37	11	17553056	17553056	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:17553056C>T	ENST00000005226.7	-	3	137	c.138G>A	c.(136-138)ctG>ctA	p.L46L	USH1C_ENST00000527720.1_Silent_p.L15L|USH1C_ENST00000527020.1_Silent_p.L46L|USH1C_ENST00000318024.4_Silent_p.L46L	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	46					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TGACCAGCTTCAGGTCTCCCA	0.607000													10	14					0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179635380	179635380	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179635380C>T	ENST00000589042.1	-	35	8363	c.8139G>A	c.(8137-8139)ctG>ctA	p.L2713L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Silent_p.L2713L|TTN_ENST00000460472.2_Silent_p.L2667L|TTN_ENST00000591111.1_Silent_p.L2713L|TTN_ENST00000359218.5_Silent_p.L2667L|TTN_ENST00000342992.6_Silent_p.L2713L|TTN_ENST00000342175.6_Silent_p.L2667L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2451							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)			TGAGGTTCTTCAGAGTCTTCT	0.388000													40	53					0	0	0.001485	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655722	40655722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:40655722G>A	ENST00000406785.1	-	2	1888	c.1699C>T	c.(1699-1701)Cga>Tga	p.R567*	SLC8A1_ENST00000403092.1_Nonsense_Mutation_p.R567*|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.R567*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.R567*|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.R567*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.R567*|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.R567*|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.R567*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.R567*|SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.R567*			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	567	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACATTTCCTCGAGCTCCAGAT	0.463000													47	91					0	0	0.003610	0	0
BAIAP3	8938	broad.mit.edu	37	16	1398005	1398005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:1398005G>A	ENST00000324385.5	+	32	3399	c.3241G>A	c.(3241-3243)Gaa>Aaa	p.E1081K	BAIAP3_ENST00000421665.2_Missense_Mutation_p.E1010K|BAIAP3_ENST00000568887.1_Missense_Mutation_p.E1018K|BAIAP3_ENST00000397489.1_Missense_Mutation_p.E1063K|BAIAP3_ENST00000562208.1_Missense_Mutation_p.E1023K|BAIAP3_ENST00000397488.2_Missense_Mutation_p.E1063K|BAIAP3_ENST00000426824.3_Missense_Mutation_p.E1046K	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1081	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGTATACGACGAACTCTTCTA	0.642000													21	64					0	0	0.002780	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45947834	45947834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:45947834G>A	ENST00000531526.1	+	8	1055	c.944G>A	c.(943-945)tGg>tAg	p.W315*	GYLTL1B_ENST00000401752.1_Nonsense_Mutation_p.W315*|GYLTL1B_ENST00000536139.1_Nonsense_Mutation_p.W284*|GYLTL1B_ENST00000529052.1_Nonsense_Mutation_p.W284*|GYLTL1B_ENST00000325468.5_Nonsense_Mutation_p.W315*|GYLTL1B_ENST00000389968.3_Nonsense_Mutation_p.W42*	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	315					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCTTGTGTCTGGAATGTGCAG	0.607000													25	36					0	0	0.004656	0	0
GALNTL5	168391	broad.mit.edu	37	7	151668105	151668105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:151668105G>A	ENST00000392800.2	+	3	577	c.323G>A	c.(322-324)aGa>aAa	p.R108K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R108K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	108						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATTATCAGTAGAAGCTTGGGC	0.328000													16	56					0	0	0.001216	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955396	18955396	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:18955396G>A	ENST00000302797.3	-	1	1160	c.936C>T	c.(934-936)atC>atT	p.I312I		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	312				EEI -> QET (in Ref. 2; AAL86880).	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACAGCTCCAGGATTTCCTCAG	0.562000													24	41					0	0	0.002299	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067521	11067521	+	Silent	SNP	C	C	T	rs35450949	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:11067521C>T	ENST00000287766.4	+	9	1333	c.912C>T	c.(910-912)atC>atT	p.I304I	SLC6A1_ENST00000536032.1_Silent_p.I126I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	304					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GGTCCCTGATCGCTCTCGGGA	0.532000													36	36					0	0	0.001706	0	0
COL11A2	1302	broad.mit.edu	37	6	33134870	33134870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:33134870C>T	ENST00000341947.2	-	58	4434	c.4207G>A	c.(4207-4209)Gat>Aat	p.D1403N	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.D1296N|COL11A2_ENST00000374714.1_Missense_Mutation_p.D1377N|COL11A2_ENST00000395197.1_Missense_Mutation_p.D1343N|COL11A2_ENST00000374713.1_Missense_Mutation_p.D1356N|COL11A2_ENST00000357486.1_Missense_Mutation_p.D1382N|COL11A2_ENST00000374712.1_Missense_Mutation_p.D1322N|COL11A2_ENST00000374708.4_Missense_Mutation_p.D1317N	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1403	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCTCCAGCATCGCCCCGGAGA	0.612000													13	14					0	0	0.002450	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692900	26692900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:26692900G>A	ENST00000529632.2	+	4	1212	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	SEZ6L_ENST00000248933.6_Missense_Mutation_p.G339E|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G339E|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G339E|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G112E|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G339E|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G112E	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	339	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCATCCGCGGGGTGGACGGC	0.592000													15	5					0	0	0.003163	0	0
LEPREL2	10536	broad.mit.edu	37	12	6946927	6946927	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:6946927C>T	ENST00000251761.8	+	0	1776				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						ACCTGAGTCACCCAGTGCACG	0.652000													6	11					0	0	0.000443	0	0
CCDC158	339965	broad.mit.edu	37	4	77305775	77305775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:77305775G>A	ENST00000388914.3	-	4	484	c.332C>T	c.(331-333)tCa>tTa	p.S111L	CCDC158_ENST00000434846.2_Missense_Mutation_p.S111L	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	111										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ATCAATGACTGACTGCCTCAA	0.338000													32	76					0	0	0.004289	0	0
LCE1E	353135	broad.mit.edu	37	1	152759961	152759961	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152759961C>T	ENST00000368770.3	+	2	239	c.186C>T	c.(184-186)tcC>tcT	p.S62S	LCE1E_ENST00000368771.1_Silent_p.S62S	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	62	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGCTCCAGCTCTGGGG	0.662000													23	41					0	0	0.005443	0	0
TSPY2	64591	broad.mit.edu	37	Y	6114348	6114348	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrY:6114348G>A	ENST00000320701.4	+	1	85	c.39G>A	c.(37-39)gaG>gaA	p.E13E	TSPY2_ENST00000383042.1_Silent_p.E13E	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	13					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus				liver(1)|lung(4)|prostate(1)|skin(1)	7						GGGTGCCAGAGAGGCTGCGGC	0.716000													15	3					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179463480	179463480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179463480G>A	ENST00000589042.1	-	291	57181	c.56957C>T	c.(56956-56958)cCa>cTa	p.P18986L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P9921L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P17345L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P10046L|TTN_ENST00000342992.6_Missense_Mutation_p.P16418L|TTN_ENST00000342175.6_Missense_Mutation_p.P10113L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17345	Fibronectin type-III 37.						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)			CTTACCAATTGGATCTCTAGC	0.438000													64	112					0	0	0.003610	0	0
VNN3	55350	broad.mit.edu	37	6	133055829	133055829	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:133055829C>T	ENST00000425515.2	-	1	75	c.3G>A	c.(1-3)atG>atA	p.M1I	VNN3_ENST00000392393.3_Start_Codon_SNP_p.M1I|VNN3_ENST00000392394.2_Start_Codon_SNP_p.M1I|VNN3_ENST00000519686.2_Start_Codon_SNP_p.M1I|VNN3_ENST00000275223.3_Start_Codon_SNP_p.M1I|VNN3_ENST00000417437.2_Start_Codon_SNP_p.M1I|VNN3_ENST00000427187.2_Start_Codon_SNP_p.M1I|VNN3_ENST00000207771.3_Start_Codon_SNP_p.M1I|VNN3_ENST00000367927.5_Start_Codon_SNP_p.M1I|VNN3_ENST00000450865.2_Start_Codon_SNP_p.M1I|VNN3_ENST00000423615.2_Start_Codon_SNP_p.M1I|VNN3_ENST00000414302.2_Start_Codon_SNP_p.M1I|VNN3_ENST00000509351.1_Start_Codon_SNP_p.M1I					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		GTGATATAATCATAACTAAAA	0.373000													8	16					0	0	0.000443	0	0
TNC	3371	broad.mit.edu	37	9	117846615	117846615	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:117846615G>A	ENST00000350763.4	-	4	2415	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F	TNC_ENST00000535648.1_Silent_p.F668F|TNC_ENST00000340094.3_Silent_p.F668F|TNC_ENST00000542877.1_Silent_p.F668F|TNC_ENST00000537320.1_Silent_p.F668F|TNC_ENST00000341037.4_Silent_p.F668F|TNC_ENST00000423613.2_Silent_p.F668F|TNC_ENST00000345230.3_Silent_p.F668F|TNC_ENST00000346706.3_Silent_p.F668F	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	668	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.F668F(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGGCACACGGAACTGCATTT	0.567000													30	9					0	0	0.001512	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131704127	131704127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:131704127C>T	ENST00000409359.1	+	4	4112	c.2914C>T	c.(2914-2916)Cct>Tct	p.P972S	ARHGEF4_ENST00000392953.3_Missense_Mutation_p.P116S|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.P116S|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.P116S|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.P116S|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.P116S			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	116					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TTTGAATCTCCCTAGAAGAAG	0.522000													27	48					0	0	0.004656	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718317	103718317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:103718317G>A	ENST00000245312.3	-	1	879	c.283C>T	c.(283-285)Ctc>Ttc	p.L95F		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	95					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACGGCCTGGAGCGGGAGGATG	0.547000													39	14					0	0	0.001951	0	0
DRD5	1816	broad.mit.edu	37	4	9785024	9785024	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:9785024G>A	ENST00000304374.2	+	1	1767	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	457					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCTGGGAGCTGGACTGCGAGG	0.502000													26	31					0	0	0.001786	0	0
CASR	846	broad.mit.edu	37	3	122003041	122003041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:122003041C>T	ENST00000498619.1	+	7	2708	c.2270C>T	c.(2269-2271)cCc>cTc	p.P757L	CASR_ENST00000296154.5_Missense_Mutation_p.P747L|CASR_ENST00000490131.1_Missense_Mutation_p.P747L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	747					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TACACCGCGCCCCCGTCAAGC	0.587000													17	26					0	0	0.001216	0	0
TRIM11	81559	broad.mit.edu	37	1	228582509	228582509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:228582509G>A	ENST00000493030.2	-	5	4638	c.929C>T	c.(928-930)tCg>tTg	p.S310L	TRIM11_ENST00000284551.6_Missense_Mutation_p.S435L|TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA			Q96F44	TRI11_HUMAN	tripartite motif containing 11	435	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CAGCGTCCCCGAGAAGGGGAT	0.627000													7	17					0	0	0.001984	0	0
ME3	10873	broad.mit.edu	37	11	86157481	86157481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:86157481C>T	ENST00000543262.1	-	13	1755	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.E477K|ME3_ENST00000359636.2_Missense_Mutation_p.E477K	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	477					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TTGCCATCTTCCAGAGTCACA	0.542000													20	21					0	0	0.001882	0	0
VCX	26609	broad.mit.edu	37	X	7811698	7811698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:7811698G>A	ENST00000381059.3	+	3	481	c.262G>A	c.(262-264)Gag>Aag	p.E88K	VCX_ENST00000341408.4_Missense_Mutation_p.E88K	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	88	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				CCCTCAGCACGAGCTGCCGCC	0.711000													15	32					0	0	0.001882	0	0
GALNTL5	168391	broad.mit.edu	37	7	151704934	151704934	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:151704934A>T	ENST00000392800.2	+	7	1185	c.931A>T	c.(931-933)Att>Ttt	p.I311F	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.I311F	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	311	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GTCTGGAGGAATTTTTGCTAT	0.323000													64	54					0	0	0.003610	0	0
ANKRD33	341405	broad.mit.edu	37	12	52285033	52285033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:52285033G>A	ENST00000301190.6	+	5	1530	c.1303G>A	c.(1303-1305)Gag>Aag	p.E435K	ANKRD33_ENST00000538991.1_Missense_Mutation_p.G174E|ANKRD33_ENST00000340970.4_Missense_Mutation_p.G243E|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		GCGATACCAGGAGCTCAGGAT	0.577000													12	11					0	0	0.000978	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198580	170198580	+	Silent	SNP	C	C	T	rs145787666	by1000genomes	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:170198580C>T	ENST00000231706.4	-	7	1806	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	497						integral to membrane	amino acid transmembrane transporter activity	p.G497G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGTCTGATTTCCCTATGAGCA	0.488000													79	100					0	0	0.003610	0	0
ZNF462	58499	broad.mit.edu	37	9	109701389	109701389	+	Splice_Site	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:109701389G>T	ENST00000277225.5	+	7	6716		c.e7+1		ZNF462_ENST00000457913.1_Splice_Site|ZNF462_ENST00000441147.2_Splice_Site|ZNF462_ENST00000542028.1_Splice_Site			Q96JM2	ZN462_HUMAN	zinc finger protein 462						transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GACTCCAATGGTAAAAATGGG	0.493000													70	11					1.49552e-23	2.81493e-23	0.003610	1	0
CUL4A	8451	broad.mit.edu	37	13	113899313	113899313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:113899313C>T	ENST00000451881.1	+	13	1333	c.1084C>T	c.(1084-1086)Ctt>Ttt	p.L362F	CUL4A_ENST00000375441.3_Missense_Mutation_p.L362F|CUL4A_ENST00000326335.4_Missense_Mutation_p.L362F|CUL4A_ENST00000375440.4_Missense_Mutation_p.L462F	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	462					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AAAAAGACTCCTTGTTGGGAA	0.408000													18	7					0	0	0.001523	0	0
CATSPERD	257062	broad.mit.edu	37	19	5763295	5763295	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:5763295C>T	ENST00000381624.3	+	16	1558	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	CATSPERD_ENST00000381614.2_Silent_p.I157I|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	499						integral to membrane											GTGTGGATATCAAGCCACTGG	0.443000													21	22					0	0	0.002299	0	0
CACNA1A	773	broad.mit.edu	37	19	13446682	13446682	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:13446682G>A	ENST00000360228.5	-	7	1019	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	CACNA1A_ENST00000573710.2_Silent_p.F340F	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	340					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)	TGAGGGGGATGAAGTACAACC	0.522000													6	12					0	0	0.000443	0	0
MUC16	94025	broad.mit.edu	37	19	9014700	9014700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:9014700C>T	ENST00000397910.4	-	31	38478	c.38275G>A	c.(38275-38277)Gag>Aag	p.E12759K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12761	SEA 5.			Missing (in Ref. 3; AAK74120).	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						CCATCCTTCTCGGACCTGAGG	0.527000													17	18					0	0	0.001882	0	0
OTOP3	347741	broad.mit.edu	37	17	72945453	72945453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:72945453G>A	ENST00000328801.4	+	7	1733	c.1733G>A	c.(1732-1734)gGg>gAg	p.G578E		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	578						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CTGCCTCTGGGGGTCTTCTAC	0.602000													26	5					0	0	0.001061	0	0
MGAM	8972	broad.mit.edu	37	7	141731538	141731538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:141731538G>A	ENST00000475668.2	+	13	1583	c.1529G>A	c.(1528-1530)tGg>tAg	p.W510*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.W510*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	510	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGTTTGGTGGACAAAGGAA	0.363000													56	66					0	0	0.003610	0	0
ITPKB	3707	broad.mit.edu	37	1	226924433	226924433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:226924433G>A	ENST00000429204.1	-	2	1054	c.727C>T	c.(727-729)Cct>Tct	p.P243S	ITPKB_ENST00000272117.3_Missense_Mutation_p.P243S|ITPKB_ENST00000366784.1_Missense_Mutation_p.P243S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	243							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GATCCTGTAGGGGCAGCCCGG	0.592000													52	52					0	0	0.003610	0	0
ASH1L	55870	broad.mit.edu	37	1	155491262	155491262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:155491262C>T	ENST00000368346.3	-	2	688	c.49G>A	c.(49-51)Ggt>Agt	p.G17S	ASH1L_ENST00000392403.3_Missense_Mutation_p.G17S|ASH1L_ENST00000548830.1_Missense_Mutation_p.G17S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	17					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTGAAAAACCTTCGGAATCA	0.408000													90	85					0	0	0.003610	0	0
MYF5	4617	broad.mit.edu	37	12	81112819	81112819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:81112819C>T	ENST00000228644.3	+	3	909	c.757C>T	c.(757-759)Cat>Tat	p.H253Y		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	253					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCTTATCTATCATGTGCTATG	0.478000													16	27					0	0	0.004007	0	0
DCC	1630	broad.mit.edu	37	18	50976943	50976943	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:50976943C>T	ENST00000442544.2	+	23	3919	c.3303C>T	c.(3301-3303)atC>atT	p.I1101I	DCC_ENST00000581580.1_Silent_p.I736I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1101					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCTTGTGATCATTGTGGTCA	0.527000													10	30					0	0	0.000673	0	0
MARCH1	55016	broad.mit.edu	37	4	164466772	164466772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:164466772C>T	ENST00000503008.1	-	7	1523	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	MARCH1_ENST00000274056.7_Missense_Mutation_p.E183K|MARCH1_ENST00000339875.5_Missense_Mutation_p.E166K|MARCH1_ENST00000514618.1_Missense_Mutation_p.E439K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	183					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGCTTGATTTCCTCCGCTGTC	0.433000													25	28					0	0	0.003954	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526501	173526501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:173526501C>T	ENST00000367714.3	-	10	1615	c.1193G>A	c.(1192-1194)cGa>cAa	p.R398Q	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R296Q|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	398					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.R398Q(2)									TTCCACTTTTCGTTCAGCGAG	0.363000													100	89					0	0	0.003610	0	0
IGHV1-2	28474	broad.mit.edu	37	14	106452697	106452697	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:106452697C>T	ENST00000390594.2	-	0	388																											ACGGCCGTGTCGTCAGATCTC	0.557000													101	26					0	0	0.003610	0	0
SMR3A	26952	broad.mit.edu	37	4	71232589	71232589	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:71232589C>T	ENST00000226460.4	+	3	379	c.283C>T	c.(283-285)Cct>Tct	p.P95S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	95	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ACACTCTCTTCCTCCTCCTTA	0.532000													25	36					0	0	0.005443	0	0
LYZL2	119180	broad.mit.edu	37	10	30915168	30915168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:30915168C>T	ENST00000375318.2	-	3	358	c.302G>A	c.(301-303)aGc>aAc	p.S101N		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	55					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				GTTGTAGCCGCTCTCATAATA	0.557000													13	27					0	0	0.003163	0	0
DTX4	23220	broad.mit.edu	37	11	58949302	58949302	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:58949302C>T	ENST00000227451.3	+	2	406	c.302C>T	c.(301-303)tCc>tTc	p.S101F	DTX4_ENST00000532982.1_5'UTR	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	101	WWE 2.				Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GACAATGGCTCCTGGACGCCC	0.602000													27	51					0	0	0.001786	0	0
TMEM63C	57156	broad.mit.edu	37	14	77710775	77710775	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:77710775C>T	ENST00000298351.4	+	16	1569	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	475						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACTTCTCCGCCTTCCTCGAGG	0.622000													57	17					0	0	0.003610	0	0
DLEC1	9940	broad.mit.edu	37	3	38135209	38135209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:38135209G>A	ENST00000308059.6	+	12	1891	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	DLEC1_ENST00000452631.2_Missense_Mutation_p.E624K|DLEC1_ENST00000346219.3_Missense_Mutation_p.E624K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	624					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATTTGAGCCTGAAAACCTTCG	0.483000													37	49					0	0	0.003755	0	0
HOXC10	3226	broad.mit.edu	37	12	54379160	54379160	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:54379160C>T	ENST00000303460.4	+	1	191	c.117C>T	c.(115-117)ttC>ttT	p.F39F	HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	39					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						GGAGTGACTTCAATTGCGGGG	0.647000													28	16					0	0	0.001061	0	0
CYFIP1	23191	broad.mit.edu	37	15	22933831	22933831	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:22933831G>A	ENST00000313077.7	+	8	875	c.750G>A	c.(748-750)gaG>gaA	p.E250E	CYFIP1_ENST00000560848.1_Silent_p.E250E	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	250					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATTACTACGAGAACAGGATGT	0.512000													30	61					0	0	0.002445	0	0
ME1	4199	broad.mit.edu	37	6	84108201	84108201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:84108201C>T	ENST00000369705.3	-	3	363	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	ME1_ENST00000541327.1_Intron|ME1_ENST00000543031.1_Missense_Mutation_p.E8K	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	83					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AAGAGTTTTTCATTTCTATCT	0.343000													15	36					0	0	0.004007	0	0
MYT1L	23040	broad.mit.edu	37	2	1893055	1893055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1893055C>T	ENST00000399161.2	-	16	3225	c.2478G>A	c.(2476-2478)atG>atA	p.M826I	MYT1L_ENST00000428368.2_Missense_Mutation_p.M824I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	826					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCCGGGGTTTCATTTTGGTGT	0.547000													25	42					0	0	0.001061	0	0
KCNU1	157855	broad.mit.edu	37	8	36776396	36776396	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:36776396C>T	ENST00000399881.3	+	23	2614	c.2577C>T	c.(2575-2577)gtC>gtT	p.V859V		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	859						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCCGAAAAGTCCCTATCCTTA	0.363000													81	14					0	0	0.003610	0	0
CSF1	1435	broad.mit.edu	37	1	110466438	110466438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:110466438G>A	ENST00000329608.6	+	6	1586	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	CSF1_ENST00000420111.2_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Missense_Mutation_p.E399K|CSF1_ENST00000344188.5_Intron	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	399					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGACCCCCCGGAGCCAGGCTC	0.667000													13	16					0	0	0.001368	0	0
MIA3	375056	broad.mit.edu	37	1	222802620	222802620	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:222802620C>T	ENST00000344922.5	+	4	2083	c.2058C>T	c.(2056-2058)tcC>tcT	p.S686S	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.S686S|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	686					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAGAGGACTCCTTGGATGAAG	0.483000													126	265					0	0	0.003610	0	0
MIR1261	100302228	broad.mit.edu	37	11	90602344	90602344	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:90602344C>T	ENST00000408659.1	-	0	26					NR_031663.1																						cacaatatccccataagccaa	0.428000													14	15					0	0	0.004007	0	0
DCN	1634	broad.mit.edu	37	12	91552088	91552088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:91552088G>A	ENST00000052754.5	-	4	1024	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	DCN_ENST00000393155.1_Nonsense_Mutation_p.Q175*|DCN_ENST00000425043.1_Intron|DCN_ENST00000228329.5_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000552962.1_Nonsense_Mutation_p.Q175*|DCN_ENST00000420120.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	175					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ACAATCATCTGGTTCAGTCCA	0.378000													42	70					0	0	0.002522	0	0
PRR12	57479	broad.mit.edu	37	19	50103156	50103156	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:50103156C>A	ENST00000418929.2	+	5	4318	c.4306C>A	c.(4306-4308)Ctt>Att	p.L1436I		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	615							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCCACCCCCTCTTCCGGGGCT	0.622000													8	20					0.000274275	0.000510682	0.004482	1	0
SLC7A6	9057	broad.mit.edu	37	16	68309089	68309089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:68309089C>T	ENST00000566454.1	+	4	729	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	SLC7A6_ENST00000219343.6_Missense_Mutation_p.P154S	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	154					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CATCATCCAGCCGTCCTTCCC	0.587000													31	46					0	0	0.003755	0	0
RLF	6018	broad.mit.edu	37	1	40688281	40688281	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:40688281C>T	ENST00000372771.4	+	6	873	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	282					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)			TACTAGACATCATTTGTAATC	0.368000													33	45					0	0	0.004289	0	0
ALG13	79868	broad.mit.edu	37	X	110951451	110951451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:110951451C>T	ENST00000394780.3	+	4	592	c.580C>T	c.(580-582)Cct>Tct	p.P194S	ALG13_ENST00000251943.4_Missense_Mutation_p.P90S|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	194					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CGCTTTTTTTCCTCTCCCTCT	0.468000													23	6					0	0	0.001882	0	0
SIAH2	6478	broad.mit.edu	37	3	150460391	150460391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:150460391G>A	ENST00000312960.3	-	2	1039	c.512C>T	c.(511-513)cCt>cTt	p.P171L		NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	171	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAAGCACCAGGACATGGGCA	0.552000													25	40					0	0	0.004656	0	0
KDM1B	221656	broad.mit.edu	37	6	18197448	18197448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:18197448C>T	ENST00000388870.2	+	11	1371	c.1130C>T	c.(1129-1131)cCt>cTt	p.P377L	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.P245L|KDM1B_ENST00000397244.1_Missense_Mutation_p.P245L			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	377					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TATCTTCTCCCTAAGGACTAC	0.433000													14	24					0	0	0.001855	0	0
CA13	377677	broad.mit.edu	37	8	86162971	86162971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:86162971C>T	ENST00000321764.3	+	2	342	c.40C>T	c.(40-42)Cct>Tct	p.P14S	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	14					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						TATTTAAGGTCCTATTCACTG	0.343000													39	51					0	0	0.001706	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569274	129569274	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:129569274G>T	ENST00000389441.4	-	1	1271	c.31C>A	c.(31-33)Ccc>Acc	p.P11T	TMEM132D_ENST00000422113.2_Intron			Q14C87	T132D_HUMAN	transmembrane protein 132D	0						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)		GAGAAAAGGGGAGGGAAAGGT	0.517000													8	9					1.06961e-07	1.99782e-07	0.003080	1	0
OTOP2	92736	broad.mit.edu	37	17	72927037	72927037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:72927037G>A	ENST00000331427.4	+	6	1399	c.1307G>A	c.(1306-1308)aGt>aAt	p.S436N	OTOP2_ENST00000580223.1_Missense_Mutation_p.S436N	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	436						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GAGCCTCACAGTACCCACCCC	0.622000													27	11					0	0	0.003954	0	0
NAV3	89795	broad.mit.edu	37	12	78582525	78582525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:78582525G>A	ENST00000397909.2	+	33	6196	c.6023G>A	c.(6022-6024)gGa>gAa	p.G2008E	NAV3_ENST00000552300.1_Intron|NAV3_ENST00000266692.7_Missense_Mutation_p.G1809E|NAV3_ENST00000228327.6_Missense_Mutation_p.G1986E|NAV3_ENST00000536525.2_Missense_Mutation_p.G1986E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2008						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TACCTTGTTGGAGATAATAAC	0.408000										HNSCC(70;0.22)			42	48					0	0	0.003610	0	0
STXBP5L	9515	broad.mit.edu	37	3	120952509	120952509	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:120952509C>T	ENST00000273666.6	+	12	1429	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	STXBP5L_ENST00000497029.1_Silent_p.L386L|STXBP5L_ENST00000472879.1_Silent_p.L386L|STXBP5L_ENST00000492541.1_Silent_p.L386L|STXBP5L_ENST00000471454.1_Silent_p.L386L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	386					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGAAAGATCTCATTGTAGTTG	0.279000													20	24					0	0	0.005443	0	0
EPPK1	83481	broad.mit.edu	37	8	144941802	144941802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144941802G>A	ENST00000525985.1	-	2	5691	c.5620C>T	c.(5620-5622)Cgt>Tgt	p.R1874C				P58107	EPIPL_HUMAN	epiplakin 1	1874						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCCCACACGAAGTGTGTGC	0.607000													37	25					0	0	0.004289	0	0
ATG2A	23130	broad.mit.edu	37	11	64678737	64678737	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:64678737G>A	ENST00000421419.2	-	10	1353	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A	ATG2A_ENST00000377264.3_Silent_p.A413A			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	413							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGGGTTGGGGGCCATCTTGC	0.627000													23	31					0	0	0.005443	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456604	106456604	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:106456604G>A	ENST00000407775.2	+	3	546	c.296G>A	c.(295-297)gGa>gAa	p.G99E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	99					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACTGGGATGGACCAGGTAGG	0.428000													7	16					0	0	0.003080	0	0
VIPAS39	63894	broad.mit.edu	37	14	77908908	77908908	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:77908908G>A	ENST00000553888.1	-	10	1239	c.729C>T	c.(727-729)ctC>ctT	p.L243L	VIPAS39_ENST00000556412.1_Silent_p.L269L|VIPAS39_ENST00000448935.2_Silent_p.L194L|VIPAS39_ENST00000343765.2_Silent_p.L243L|VIPAS39_ENST00000327028.4_Silent_p.L230L|VIPAS39_ENST00000557658.1_Silent_p.L243L	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CTTACCTGAAGAGGTCTAAAA	0.433000													114	36					0	0	0.003610	0	0
MROH5	389690	broad.mit.edu	37	8	142504968	142504968	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:142504968C>T	ENST00000430863.1	-	0	558					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		CAGGTCTCCTCCAGGACGTCA	0.617000													10	8					0	0	0.000978	0	0
OR5D14	219436	broad.mit.edu	37	11	55563790	55563790	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:55563790C>T	ENST00000335605.1	+	1	759	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TCACCATCTTCCATGGGACCA	0.463000													17	25					0	0	0.001216	0	0
C10orf129	142827	broad.mit.edu	37	10	96971651	96971651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:96971651C>T	ENST00000341686.3	+	6	897	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	C10orf129_ENST00000394005.3_Nonsense_Mutation_p.Q258*|C10orf129_ENST00000430183.1_Nonsense_Mutation_p.Q103*	NM_207321.2	NP_997204.2	Q6P461	ACSM6_HUMAN	chromosome 10 open reading frame 129	258					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GATGGATCTCCAGCCAACAGA	0.468000													19	27					0	0	0.003954	0	0
MEP1A	4224	broad.mit.edu	37	6	46806849	46806849	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:46806849C>T	ENST00000230588.4	+	14	2226	c.2217C>T	c.(2215-2217)atC>atT	p.I739I		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	739					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCATCGCCATCCTTTCCCAAA	0.597000													30	26					0	0	0.002096	0	0
SH2D4B	387694	broad.mit.edu	37	10	82369182	82369182	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:82369182G>A	ENST00000313455.4	+	6	794	c.716G>A	c.(715-717)aGg>aAg	p.R239K	SH2D4B_ENST00000339284.2_Splice_Site|SH2D4B_ENST00000372150.3_3'UTR|SH2D4B_ENST00000470604.2_Splice_Site	NM_001145719.1	NP_001139191.1	Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	286			S -> L (in dbSNP:rs11817391).					p.?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			CTCTTCAGCAGGACCTGGGAG	0.607000													17	24					0	0	0.004656	0	0
ANXA1	301	broad.mit.edu	37	9	75783979	75783979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:75783979G>A	ENST00000376911.1	+	11	1775	c.893G>A	c.(892-894)aGg>aAg	p.R298K	ANXA1_ENST00000257497.6_Missense_Mutation_p.R298K|ANXA1_ENST00000491192.1_3'UTR			P04083	ANXA1_HUMAN	annexin A1	298					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GCATTGATCAGGATTATGGTT	0.368000													119	21					0	0	0.003610	0	0
RLN3	117579	broad.mit.edu	37	19	14141608	14141608	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:14141608C>T	ENST00000431365.2	+	2	334	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	RLN3_ENST00000585987.1_3'UTR	NM_080864.2	NP_543140.1	Q8WXF3	REL3_HUMAN	relaxin 3	93						extracellular region	hormone activity			endometrium(1)|lung(4)	5						GTGGCTGGCCCTGACCAAGTC	0.612000													20	34					0	0	0.001523	0	0
GPR32	2854	broad.mit.edu	37	19	51274295	51274295	+	Silent	SNP	C	C	T	rs143841096		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:51274295C>T	ENST00000270590.4	+	1	575	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	146						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCCTCTACCCCGTCTGGGCCC	0.592000													52	41					0	0	0.003610	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50463542	50463542	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:50463542G>A	ENST00000447370.2	-	3	687	c.597C>T	c.(595-597)tcC>tcT	p.S199S	SIGLEC11_ENST00000426971.2_Silent_p.S199S	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	199	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TTCTTCTAGGGGAGAGGGCAG	0.607000													7	10					0	0	0.000673	0	0
OR2G2	81470	broad.mit.edu	37	1	247751993	247751993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:247751993G>A	ENST00000320065.1	+	1	332	c.332G>A	c.(331-333)gGa>gAa	p.G111E	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGCCCTGGGATCCACTGAG	0.527000													66	61					0	0	0.003610	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659234	121659234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:121659234C>T	ENST00000489711.1	+	21	2300	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	SLC15A2_ENST00000295605.2_Missense_Mutation_p.P607S	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	638					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCCCCAGGCTCCCTCTAGCAT	0.493000													25	25					0	0	0.005443	0	0
UCP3	7352	broad.mit.edu	37	11	73714897	73714897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:73714897C>T	ENST00000314032.4	-	6	1351	c.799G>A	c.(799-801)Gag>Aag	p.E267K	UCP3_ENST00000348534.4_Missense_Mutation_p.E165K|UCP3_ENST00000426995.2_Missense_Mutation_p.E267K	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	267					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GTGGGGCCCTCCTGGGCCACC	0.597000													58	64					0	0	0.003610	0	0
FBN2	2201	broad.mit.edu	37	5	127713525	127713525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:127713525C>T	ENST00000508053.1	-	19	2743	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	FBN2_ENST00000262464.4_Missense_Mutation_p.R590Q|FBN2_ENST00000508989.1_Missense_Mutation_p.R557Q			P35556	FBN2_HUMAN	fibrillin 2	590	EGF-like 8; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTTCACGCATCGACCGTTTTT	0.393000													62	31					0	0	0.003610	0	0
CCDC19	25790	broad.mit.edu	37	1	159846395	159846395	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159846395G>A	ENST00000426543.2	-	10	1503	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L	CCDC19_ENST00000368099.4_Silent_p.L435L|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	435						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TGAACAGCCAGAGCGTGCTCC	0.547000													8	21					0	0	0.000443	0	0
RYR2	6262	broad.mit.edu	37	1	237947370	237947370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:237947370G>A	ENST00000366574.2	+	90	12675	c.12358G>A	c.(12358-12360)Gaa>Aaa	p.E4120K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4104K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4126K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4120					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)			GACTTTTCTGGAATTAGCAGA	0.512000													9	32					0	0	0.004482	0	0
ZNF99	7652	broad.mit.edu	37	19	22939185	22939185	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:22939185T>G	ENST00000397104.3	-	8	2935	c.2936A>C	c.(2935-2937)gAg>gCg	p.E979A						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTAGGGTTTCTCTCCAGAATG	0.363000													9	25					0	0	0.000443	0	0
C7orf62	219557	broad.mit.edu	37	7	88423752	88423752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:88423752C>T	ENST00000297203.2	-	2	690	c.505G>A	c.(505-507)Gag>Aag	p.E169K	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	169										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTGATGACCTCCTTTAGGGAC	0.408000													60	38					0	0	0.003610	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545893	138545893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:138545893G>A	ENST00000440172.1	-	16	5287	c.5239C>T	c.(5239-5241)Ccc>Tcc	p.P1747S	KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1697S|KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1747S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1747						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACACTGCAGGGATTGTTGGCC	0.582000			O	BRAF	pilocytic astrocytoma								34	10					0	0	0.003271	0	0
RIMS1	22999	broad.mit.edu	37	6	72967888	72967888	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:72967888A>T	ENST00000264839.7	+	17	2831	c.2831A>T	c.(2830-2832)cAa>cTa	p.Q944L	RIMS1_ENST00000517960.1_Missense_Mutation_p.Q943L|RIMS1_ENST00000520567.1_Missense_Mutation_p.Q943L|RIMS1_ENST00000425662.2_Missense_Mutation_p.Q337L|RIMS1_ENST00000518273.1_Missense_Mutation_p.Q944L|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.Q418L|RIMS1_ENST00000517827.1_Missense_Mutation_p.Q403L|RIMS1_ENST00000522291.1_Missense_Mutation_p.Q943L|RIMS1_ENST00000348717.5_Missense_Mutation_p.Q943L|RIMS1_ENST00000491071.2_Missense_Mutation_p.Q944L|RIMS1_ENST00000401910.3_Missense_Mutation_p.Q417L|RIMS1_ENST00000521978.1_Missense_Mutation_p.Q944L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	944					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAGAACAGCAAAGAACAACT	0.428000													11	23					0	0	0.000673	0	0
LDLR	3949	broad.mit.edu	37	19	11216042	11216042	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:11216042C>A	ENST00000558518.1	+	4	647	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	LDLR_ENST00000557933.1_Missense_Mutation_p.Q154K|LDLR_ENST00000558013.1_Missense_Mutation_p.Q154K|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.Q113K|LDLR_ENST00000545707.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	154	LDL-receptor class A 4.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGCCAGCTTCCAGTGCAACAG	0.652000													7	167					0.00448238	0.00831004	0.004482	1	0
ITIH4	3700	broad.mit.edu	37	3	52852188	52852188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:52852188G>A	ENST00000346281.5	-	18	2186	c.2128C>T	c.(2128-2130)Cca>Tca	p.P710S	ITIH4_ENST00000406595.1_Intron|ITIH4_ENST00000485816.1_Intron|ITIH4_ENST00000266041.4_Intron	NM_001166449.1	NP_001159921.1	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	726					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATGGGGGCTGGGACAGCCGGG	0.667000													23	34					0	0	0.003954	0	0
LOC401127	401127	broad.mit.edu	37	4	39482590	39482590	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:39482590C>T	ENST00000513652.1	+	0	597																											AGACTGCTAGCTCACTCCGAT	0.463000													14	16					0	0	0.004990	0	0
PTGIS	5740	broad.mit.edu	37	20	48130856	48130856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:48130856C>T	ENST00000244043.4	-	7	961	c.932G>A	c.(931-933)gGa>gAa	p.G311E	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	311					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CTCGAGCTCTCCGCGGACAGC	0.582000													41	13					0	0	0.002522	0	0
CLSPN	63967	broad.mit.edu	37	1	36226355	36226355	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:36226355G>A	ENST00000251195.5	-	8	1263	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	CLSPN_ENST00000318121.3_Silent_p.I389I|CLSPN_ENST00000373220.3_Silent_p.I389I|CLSPN_ENST00000520551.1_Silent_p.I389I			Q9HAW4	CLSPN_HUMAN	claspin	389					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATCCAGTAATGATCTGGGTTT	0.413000													35	68					0	0	0.004289	0	0
SGIP1	84251	broad.mit.edu	37	1	67099765	67099765	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:67099765G>A	ENST00000237247.6	+	5	240	c.102G>A	c.(100-102)caG>caA	p.Q34Q	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000468286.1_Intron			Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	34					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CTATTCAGCAGGGGAAAAAAA	0.438000													7	5					0	0	0.003080	0	0
SYCP2L	221711	broad.mit.edu	37	6	10959021	10959021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:10959021G>A	ENST00000283141.6	+	26	2464	c.2168G>A	c.(2167-2169)aGg>aAg	p.R723K		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	723						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)			ATTTAGCTTAGGTACAGAAAG	0.333000													15	25					0	0	0.006122	0	0
XCL1	6375	broad.mit.edu	37	1	168545900	168545900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:168545900C>T	ENST00000367818.3	+	1	190	c.25C>T	c.(25-27)Ctt>Ttt	p.L9F		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	9					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CCTGGCCCTCCTTGGCATCTG	0.527000													36	51					0	0	0.001951	0	0
PXDN	7837	broad.mit.edu	37	2	1677538	1677538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:1677538C>T	ENST00000252804.4	-	9	945	c.895G>A	c.(895-897)Gat>Aat	p.D299N	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	299	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGGTCCCATCGTCCAGCAAG	0.498000													36	25					0	0	0.004878	0	0
RYR1	6261	broad.mit.edu	37	19	39039042	39039042	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:39039042C>T	ENST00000355481.4	+	88	12380	c.12249C>T	c.(12247-12249)tcC>tcT	p.S4083S	RYR1_ENST00000359596.3_Silent_p.S4088S|RYR1_ENST00000360985.3_Silent_p.S4083S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4088					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCTCATCTCCAAGAAGGACT	0.567000													23	45					0	0	0.001061	0	0
COL5A1	1289	broad.mit.edu	37	9	137619233	137619233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:137619233C>T	ENST00000371817.3	+	5	1190	c.776C>T	c.(775-777)cCa>cTa	p.P259L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	259	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACCCCAATCCAGATGAATAT	0.522000													37	6					0	0	0.004289	0	0
ANO2	57101	broad.mit.edu	37	12	5744481	5744481	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:5744481C>T	ENST00000546188.1	-	17	1727	c.1656G>A	c.(1654-1656)gtG>gtA	p.V552V	ANO2_ENST00000327087.8_Silent_p.V551V|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000356134.5_Silent_p.V552V			Q9NQ90	ANO2_HUMAN	anoctamin 2	556						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATACACTATCACCCCAAAGA	0.488000													14	16					0	0	0.004007	0	0
FAM65B	9750	broad.mit.edu	37	6	24865552	24865552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:24865552G>A	ENST00000259698.4	-	7	716	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	FAM65B_ENST00000540914.1_Missense_Mutation_p.R181W|FAM65B_ENST00000538035.1_Missense_Mutation_p.R210W|FAM65B_ENST00000378023.4_Missense_Mutation_p.R181W|FAM65B_ENST00000510784.2_Missense_Mutation_p.R215W	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	181					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TTGAAGCTCCGATTGATCTCT	0.517000													28	31					0	0	0.002096	0	0
CSN2	1447	broad.mit.edu	37	4	70823080	70823080	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:70823080A>T	ENST00000353151.3	-	5	598	c.587T>A	c.(586-588)cTt>cAt	p.L196H		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	196					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GTTGAGCAGAAGGGCTTGAAC	0.547000													19	17					0	0	0.000958	0	0
G6PC2	57818	broad.mit.edu	37	2	169764467	169764467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:169764467G>A	ENST00000375363.3	+	5	1038	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	G6PC2_ENST00000461586.1_3'UTR|SPC25_ENST00000472216.2_Intron	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	316					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CCCGACTCACGAAGAGCATTT	0.438000													41	72					0	0	0.003610	0	0
PINK1	65018	broad.mit.edu	37	1	20972134	20972134	+	Silent	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:20972134G>T	ENST00000321556.4	+	5	1135	c.1041G>T	c.(1039-1041)ctG>ctT	p.L347L	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	347	Protein kinase.		L -> P (in PARK6; strongly reduces interaction with PARK2).		cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCAGCTGCTGGAAGGCGTGG	0.617000													21	15					1.40151e-16	2.63119e-16	0.001523	1	0
OR8B12	219858	broad.mit.edu	37	11	124413475	124413475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124413475G>A	ENST00000306842.2	-	1	100	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		AGGAAGAAGAGGGGGATCCGC	0.537000													19	28					0	0	0.000958	0	0
MTUS2	23281	broad.mit.edu	37	13	29599079	29599079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:29599079C>T	ENST00000431530.3	+	1	332	c.274C>T	c.(274-276)Cag>Tag	p.Q92*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	82						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCACCAACTTCAGGGCTTTGG	0.453000													10	35					0	0	0.000673	0	0
TENM1	10178	broad.mit.edu	37	X	123556122	123556122	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:123556122C>T	ENST00000422452.2	-	24	4534	c.4471_splice	c.e24+1	p.G1491_splice	TENM1_ENST00000371130.3_Splice_Site_p.G1484_splice|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAGGTCATACCTGAAAAACAG	0.438000													14	5					0	0	0.002450	0	0
LCE3D	84648	broad.mit.edu	37	1	152552401	152552401	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:152552401C>G	ENST00000368787.3	-	2	68	c.12G>C	c.(10-12)caG>caC	p.Q4H		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	4					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GCTGGTTCTGCTGGCAGGACA	0.547000													26	29					0	0	0.001271	0	0
NOS1AP	9722	broad.mit.edu	37	1	162325066	162325066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:162325066G>A	ENST00000361897.5	+	7	1087	c.685G>A	c.(685-687)Gat>Aat	p.D229N	NOS1AP_ENST00000530878.1_Missense_Mutation_p.D224N	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	229					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TCCAGGGAATGATGTCCTGGA	0.592000													54	50					0	0	0.003610	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541233	133541233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:133541233G>A	ENST00000409261.1	-	14	3524	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1051C|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1051							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGTGTTTGGCGAGGAGAGGTT	0.557000													25	25					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179644801	179644801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179644801C>T	ENST00000589042.1	-	22	3879	c.3655G>A	c.(3655-3657)Gaa>Aaa	p.E1219K	TTN_ENST00000360870.5_Missense_Mutation_p.E1219K|TTN_ENST00000460472.2_Missense_Mutation_p.E1173K|TTN_ENST00000591111.1_Missense_Mutation_p.E1219K|TTN_ENST00000359218.5_Missense_Mutation_p.E1173K|TTN_ENST00000342992.6_Missense_Mutation_p.E1219K|TTN_ENST00000342175.6_Missense_Mutation_p.E1173K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1219							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)			TGTtctttttcatactctttt	0.358000													29	62					0	0	0.001512	0	0
AFP	174	broad.mit.edu	37	4	74313315	74313315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:74313315C>T	ENST00000395792.2	+	8	1080	c.980C>T	c.(979-981)tCt>tTt	p.S327F	AFP_ENST00000226359.2_Missense_Mutation_p.S327F	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	327	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGGTCTATCTCCAAATCTA	0.358000									Alpha-Fetoprotein, Hereditary Persistence of				20	42					0	0	0.002299	0	0
NOS1	4842	broad.mit.edu	37	12	117672548	117672548	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:117672548G>A	ENST00000317775.6	-	21	3742	c.3057C>T	c.(3055-3057)ttC>ttT	p.F1019F	NOS1_ENST00000338101.4_Silent_p.F1053F|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1019	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGAGACGCACGAAGATAGTTG	0.557000													6	18					0	0	0.001168	0	0
CD163L1	283316	broad.mit.edu	37	12	7556422	7556422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7556422C>T	ENST00000313599.3	-	6	1174	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	CD163L1_ENST00000416109.2_Missense_Mutation_p.D383N|CD163L1_ENST00000396630.1_Missense_Mutation_p.D373N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	373	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTACTTCCATCTGCTAGTCGC	0.453000													19	40					0	0	0.001882	0	0
COL4A5	1287	broad.mit.edu	37	X	107814643	107814643	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:107814643G>A	ENST00000328300.6	+	7	629	c.384_splice	c.e7-1	p.G129_splice	COL4A5_ENST00000361603.2_Splice_Site_p.G129_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	129	Triple-helical region.		G -> E (in APSX; juvenile type).|G -> V (in APSX; juvenile type).		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						CTCCTTCTAGGGAGAACGTGG	0.358000									Alport syndrome with Diffuse Leiomyomatosis				93	25					0	0	0.003610	0	0
CPNE1	8904	broad.mit.edu	37	20	34218677	34218677	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:34218677G>A	ENST00000317619.3	-	14	1430	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S	CPNE1_ENST00000317677.5_Missense_Mutation_p.P351S|CPNE1_ENST00000397442.1_Missense_Mutation_p.P346S|CPNE1_ENST00000397443.1_Missense_Mutation_p.P346S|CPNE1_ENST00000397446.1_Missense_Mutation_p.P346S|CPNE1_ENST00000397445.1_Missense_Mutation_p.P346S|CPNE1_ENST00000352393.4_Missense_Mutation_p.P346S			Q99829	CPNE1_HUMAN	copine I	346	VWFA.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAGTCAGGGGGAACCTGGGCC	0.527000													31	96					0	0	0.002836	0	0
LRRC52	440699	broad.mit.edu	37	1	165532784	165532784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:165532784G>A	ENST00000294818.1	+	2	955	c.665G>A	c.(664-666)gGg>gAg	p.G222E	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	222	LRRCT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAGCTGACAGGGTGGCCCATC	0.547000													15	31					0	0	0.004990	0	0
CXCR3	2833	broad.mit.edu	37	X	70836739	70836739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:70836739C>T	ENST00000373691.4	-	2	887	c.724G>A	c.(724-726)Gac>Aac	p.D242N	CXCR3_ENST00000373693.3_Missense_Mutation_p.D195N	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	195					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	p.D195N(1)		breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					AGGCGCTCGTCGTGGTGGGCC	0.687000													19	7					0	0	0.002780	0	0
DLAT	1737	broad.mit.edu	37	11	111915933	111915933	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:111915933C>T	ENST00000280346.6	+	9	1928	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	DLAT_ENST00000393051.1_Silent_p.I318I|DLAT_ENST00000537636.1_Silent_p.I194I	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	423	Catalytic (By similarity).				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)	TCACAGATATCCCAATCAGCA	0.463000													61	72					0	0	0.003610	0	0
DLAT	1737	broad.mit.edu	37	11	111914233	111914233	+	Silent	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:111914233T>C	ENST00000280346.6	+	8	1832	c.1173T>C	c.(1171-1173)tcT>tcC	p.S391S	DLAT_ENST00000393051.1_Silent_p.S286S|DLAT_ENST00000537636.1_Silent_p.S162S	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	391					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)	ATATCGACTCTTTTGTGCCTA	0.393000													48	89					0	0	0.003610	0	0
GDI1	2664	broad.mit.edu	37	X	153667183	153667183	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:153667183C>T	ENST00000447750.2	+	3	561	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	76					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAATGTTGACCTGATTCCCAA	0.567000													90	12					0	0	0.003610	0	0
TGM6	343641	broad.mit.edu	37	20	2411657	2411657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:2411657G>A	ENST00000202625.2	+	12	2012	c.1951G>A	c.(1951-1953)Gaa>Aaa	p.E651K	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	651					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCTTCTCCAGGAACAGCTCAG	0.592000													23	14					0	0	0.003954	0	0
DNAH5	1767	broad.mit.edu	37	5	13753442	13753442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:13753442C>T	ENST00000265104.4	-	63	10876	c.10772G>A	c.(10771-10773)gGa>gAa	p.G3591E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3591	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G3591E(1)		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)					GACAATAATTCCATTTTGAAT	0.393000									Kartagener syndrome				35	62					0	0	0.005524	0	0
ME1	4199	broad.mit.edu	37	6	83921771	83921771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:83921771G>A	ENST00000369705.3	-	14	1707	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	ME1_ENST00000541327.1_Missense_Mutation_p.P365S|ME1_ENST00000543031.1_Missense_Mutation_p.P456S	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	531					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TGCGGTTCAGGATAAACTGTG	0.358000													38	33					0	0	0.003610	0	0
RASAL1	8437	broad.mit.edu	37	12	113543543	113543543	+	Silent	SNP	G	G	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:113543543G>T	ENST00000546530.1	-	17	2094	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	RASAL1_ENST00000548055.1_Silent_p.S602S|RASAL1_ENST00000261729.5_Silent_p.S601S|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.S601S	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	601	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCTTGGAGAAGGAGAGGGTCT	0.612000													13	26					0.000151284	0.000281903	0.001855	1	0
UPK3A	7380	broad.mit.edu	37	22	45689117	45689117	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:45689117C>T	ENST00000216211.4	+	5	659	c.627C>T	c.(625-627)atC>atT	p.I209I	UPK3A_ENST00000396082.2_Silent_p.I88I	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	209					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAGGCATGATCGTCATCACTT	0.617000													20	25					0	0	0.001523	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632363	156632363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:156632363G>A	ENST00000296518.7	+	6	1255	c.1046G>A	c.(1045-1047)cGa>cAa	p.R349Q	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R349Q|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R91Q|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R349Q|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R349Q|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R349Q|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R349Q			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	349					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTGTTGTACGAGTGAGGAGA	0.343000													17	27					0	0	0.002299	0	0
MOB3C	148932	broad.mit.edu	37	1	47078949	47078949	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:47078949G>A	ENST00000371940.1	-	1	3188	c.114C>T	c.(112-114)ttC>ttT	p.F38F	MOB3C_ENST00000319928.3_Silent_p.F15F|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Silent_p.F67F|MOB3C_ENST00000477318.1_5'UTR			Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	15							metal ion binding										TCCGCGGCCGGAACGTCTTGT	0.647000													34	61					0	0	0.003755	0	0
ZBED2	79413	broad.mit.edu	37	3	111312910	111312910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:111312910G>A	ENST00000317012.4	-	2	1147	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	47							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TTGTTGTGGGGCATTGGAGTG	0.547000													18	26					0	0	0.002299	0	0
RRP15	51018	broad.mit.edu	37	1	218504303	218504303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:218504303C>T	ENST00000366932.3	+	5	749	c.719C>T	c.(718-720)tCa>tTa	p.S240L		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	240						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		GAAGTGAAATCAGAAGAAGGC	0.383000													13	30					0	0	0.004007	0	0
BCAS3	54828	broad.mit.edu	37	17	59067396	59067396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:59067396C>T	ENST00000589222.1	+	15	1354	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	BCAS3_ENST00000588462.1_Missense_Mutation_p.S429F|BCAS3_ENST00000408905.3_Missense_Mutation_p.S429F|BCAS3_ENST00000585744.1_Missense_Mutation_p.S200F|BCAS3_ENST00000390652.5_Missense_Mutation_p.S429F|BCAS3_ENST00000407086.3_Missense_Mutation_p.S429F|BCAS3_ENST00000588874.1_Missense_Mutation_p.S200F			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	429						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGGGGTACTTCCCACGTTTTC	0.478000													75	14					0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158650377	158650377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:158650377G>A	ENST00000368148.3	-	5	854	c.674C>T	c.(673-675)gCc>gTc	p.A225V	SPTA1_ENST00000368147.3_Missense_Mutation_p.A225V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	225					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)					CCTCACCTCGGCACACTCATT	0.448000													53	122					0	0	0.003610	0	0
SON	6651	broad.mit.edu	37	21	34927194	34927194	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:34927194T>C	ENST00000356577.4	+	3	6132	c.5657T>C	c.(5656-5658)gTa>gCa	p.V1886A	SON_ENST00000381679.4_Missense_Mutation_p.V1886A|SON_ENST00000300278.4_Missense_Mutation_p.V1886A|SON_ENST00000290239.6_Missense_Mutation_p.V1886A|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1886					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						AGAAGATCTGTATCAAAAGAG	0.443000													9	18					0	0	0.000673	0	0
DMBT1	1755	broad.mit.edu	37	10	124399773	124399773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:124399773C>T	ENST00000368909.3	+	52	6879	c.6773C>T	c.(6772-6774)tCc>tTc	p.S2258F	DMBT1_ENST00000368955.3_Missense_Mutation_p.S2248F|DMBT1_ENST00000338354.3_Missense_Mutation_p.S2258F|DMBT1_ENST00000368956.2_Missense_Mutation_p.S1630F|DMBT1_ENST00000344338.3_Missense_Mutation_p.S2248F|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1630F|DMBT1_ENST00000359586.6_Missense_Mutation_p.S978F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2258	ZP.				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)				GTGAACATTTCCTTTTATACT	0.463000													38	79					0	0	0.002222	0	0
ZNF142	7701	broad.mit.edu	37	2	219520896	219520896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:219520896G>A	ENST00000411696.2	-	3	1036	c.257C>T	c.(256-258)cCa>cTa	p.P86L	ZNF142_ENST00000449707.1_Missense_Mutation_p.P86L			P52746	ZN142_HUMAN	zinc finger protein 142	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGAGCACCTGGGGTCAGGGT	0.537000													13	22					0	0	0.002450	0	0
RFX6	222546	broad.mit.edu	37	6	117244329	117244329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:117244329G>A	ENST00000332958.2	+	14	1513	c.1497G>A	c.(1495-1497)tgG>tgA	p.W499*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	499					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTTAAAGTGGAGTTTTTTTG	0.338000													39	45					0	0	0.001485	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518603	113518603	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:113518603G>A	ENST00000284601.3	-	4	2612	c.2544C>T	c.(2542-2544)tcC>tcT	p.S848S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	848					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGACCCATGAGGATTCTTCCA	0.373000													95	78					0	0	0.003610	0	0
C7	730	broad.mit.edu	37	5	40955600	40955600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:40955600G>A	ENST00000313164.9	+	10	1564	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	402	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AACAAAAGGCGATATTCTGCC	0.438000													56	95					0	0	0.003610	0	0
C9orf64	84267	broad.mit.edu	37	9	86554574	86554574	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr9:86554574A>G	ENST00000376344.3	-	4	1094	c.878T>C	c.(877-879)cTt>cCt	p.L293P	C9orf64_ENST00000314700.1_Missense_Mutation_p.L152P	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	293										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAGCTCCAGAAGACAATCCCG	0.453000													64	8					0	0	0.003610	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586887	42586887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:42586887C>T	ENST00000289957.2	+	5	565	c.437C>T	c.(436-438)cCc>cTc	p.P146L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	146					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGGACCCCTCCCGCCAGCTAC	0.532000													31	6					0	0	0.001512	0	0
PDE6C	5146	broad.mit.edu	37	10	95386417	95386417	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:95386417C>T	ENST00000371447.3	+	6	1098	c.960C>T	c.(958-960)atC>atT	p.I320I		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	320	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTTATAAAATCATTGATTACA	0.333000													12	19					0	0	0.002450	0	0
FCGBP	8857	broad.mit.edu	37	19	40363038	40363038	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:40363038A>G	ENST00000221347.6	-	32	15039	c.15032T>C	c.(15031-15033)tTc>tCc	p.F5011S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5011	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCAGCCCCGAAGGTCTCCAC	0.647000													10	9					0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179444372	179444372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179444372C>T	ENST00000589042.1	-	319	67776	c.67552G>A	c.(67552-67554)Gaa>Aaa	p.E22518K	TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E13453K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20877K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13578K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19950K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13645K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20877	Fibronectin type-III 63.						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)			AAGGTATATTCCTTCCCTTCA	0.418000													46	74					0	0	0.003610	0	0
LILRA1	11024	broad.mit.edu	37	19	55107356	55107356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:55107356C>T	ENST00000251372.3	+	6	1096	c.914C>T	c.(913-915)tCc>tTc	p.S305F	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	305	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AACCTCTCCTCCGAGTGGTCG	0.682000													23	30					0	0	0.004656	0	0
KMT2D	8085	broad.mit.edu	37	12	49444331	49444331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:49444331G>A	ENST00000301067.7	-	11	3039	c.3040C>T	c.(3040-3042)Ccc>Tcc	p.P1014S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ATCAGGATGGGAGAAGCCGGC	0.617000													21	12					0	0	0.003954	0	0
SMG5	23381	broad.mit.edu	37	1	156247024	156247024	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:156247024G>A	ENST00000361813.5	-	4	450	c.306C>T	c.(304-306)caC>caT	p.H102H	SMG5_ENST00000368267.4_Silent_p.H102H	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	102					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TGCTCCGGCTGTGGATGTGCT	0.527000													18	9					0	0	0.001216	0	0
WDR33	55339	broad.mit.edu	37	2	128525862	128525862	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:128525862G>A	ENST00000322313.4	-	4	437	c.279C>T	c.(277-279)gtC>gtT	p.V93V	WDR33_ENST00000409658.3_Silent_p.V93V|WDR33_ENST00000393006.1_Silent_p.V93V	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	93					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTATAGGTGGGACCAGCTACA	0.358000													6	3					0	0	0.001168	0	0
RASAL1	8437	broad.mit.edu	37	12	113544974	113544974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:113544974G>A	ENST00000546530.1	-	16	1873	c.1588C>T	c.(1588-1590)Ccc>Tcc	p.P530S	RASAL1_ENST00000548055.1_Missense_Mutation_p.P529S|RASAL1_ENST00000261729.5_Missense_Mutation_p.P529S|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.P529S	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	529					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCAGGAAGGGGTGCAGGGGG	0.617000													11	26					0	0	0.001368	0	0
PRRT1	80863	broad.mit.edu	37	6	32118242	32118242	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:32118242G>C	ENST00000211413.5	-	2	585	c.461C>G	c.(460-462)aCt>aGt	p.T154S	PRRT1_ENST00000375152.2_Missense_Mutation_p.T73S|PRRT1_ENST00000375150.2_Missense_Mutation_p.T73S	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	154					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CGTGCCCACAGTCCCCGCGTG	0.766000													7	7					0	0	0.004482	0	0
GPR155	151556	broad.mit.edu	37	2	175324675	175324675	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:175324675T>C	ENST00000392552.2	-	10	1940	c.1702A>G	c.(1702-1704)Act>Gct	p.T568A	GPR155_ENST00000295500.4_Missense_Mutation_p.T568A|GPR155_ENST00000392551.2_Missense_Mutation_p.T568A	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	568					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TCAAAAGCAGTATTTCCAGGC	0.408000													26	51					0	0	0.001512	0	0
DRD5	1816	broad.mit.edu	37	4	9784938	9784938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:9784938G>A	ENST00000304374.2	+	1	1681	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	429					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGACAACGACGAGGAGGAGGG	0.577000													23	31					0	0	0.004656	0	0
C12orf50	160419	broad.mit.edu	37	12	88379643	88379643	+	Silent	SNP	T	T	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:88379643T>C	ENST00000298699.2	-	11	1290	c.1110A>G	c.(1108-1110)aaA>aaG	p.K370K	C12orf50_ENST00000550553.1_Silent_p.K331K	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	370										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGAGGTTGGGTTTGGGTTCCC	0.493000													23	43					0	0	0.003954	0	0
PARD3B	117583	broad.mit.edu	37	2	205829921	205829921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:205829921G>A	ENST00000406610.2	+	3	476	c.269G>A	c.(268-270)aGc>aAc	p.S90N	PARD3B_ENST00000349953.3_Missense_Mutation_p.S90N|PARD3B_ENST00000351153.1_Missense_Mutation_p.S90N|PARD3B_ENST00000358768.2_Missense_Mutation_p.S90N|PARD3B_ENST00000462231.1_Missense_Mutation_p.S90N	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	90					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGATTGAGAGCCCCAGTGGA	0.483000													8	22					0	0	0.004482	0	0
NRBF2	29982	broad.mit.edu	37	10	64913929	64913929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:64913929C>T	ENST00000277746.6	+	4	996	c.815C>T	c.(814-816)cCt>cTt	p.P272L	NRBF2_ENST00000435510.2_Missense_Mutation_p.P262L	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	272					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding			large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCAGAACTTCCTCTTATGGAG	0.423000													17	25					0	0	0.001216	0	0
DSCAM	1826	broad.mit.edu	37	21	41539166	41539166	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:41539166C>T	ENST00000400454.1	-	16	3474	c.2997G>A	c.(2995-2997)caG>caA	p.Q999Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	999	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCCTGATGCTCTGAGATGATA	0.517000													19	27					0	0	0.001882	0	0
OR8B2	26595	broad.mit.edu	37	11	124253219	124253219	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124253219G>A	ENST00000375013.2	-	1	39	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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)		CAGTCACTAAGGAGTTGTTTC	0.358000													18	58					0	0	0.002299	0	0
ITGA3	3675	broad.mit.edu	37	17	48151603	48151603	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:48151603C>T	ENST00000320031.8	+	9	1671	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D	ITGA3_ENST00000007722.7_Silent_p.D447D|ITGA3_ENST00000544892.1_Silent_p.D222D	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	447					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCTACCCAGACCTTCTAGTGG	0.537000													33	99					0	0	0.003271	0	0
CD109	135228	broad.mit.edu	37	6	74481165	74481165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:74481165G>A	ENST00000437994.2	+	15	2119	c.1688G>A	c.(1687-1689)tGg>tAg	p.W563*	CD109_ENST00000422508.2_Nonsense_Mutation_p.W486*|CD109_ENST00000287097.5_Nonsense_Mutation_p.W563*	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	563						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGCTATATTGGAGTAAAGTG	0.383000													29	35					0	0	0.002445	0	0
HDAC4	9759	broad.mit.edu	37	2	240056275	240056275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:240056275G>A	ENST00000345617.3	-	10	1834	c.1043C>T	c.(1042-1044)tCg>tTg	p.S348L	HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.S317L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	348					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			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)		CAAGGATGGCGATGTGTAGAG	0.632000													12	20					0	0	0.001368	0	0
SF3B3	23450	broad.mit.edu	37	16	70605668	70605668	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:70605668C>T	ENST00000302516.5	+	26	3817	c.3606C>T	c.(3604-3606)ccC>ccT	p.P1202P		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	1202					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GAACCCCACCCGAAGTGTCCA	0.512000													22	17					0	0	0.001882	0	0
SAMD11	148398	broad.mit.edu	37	1	865644	865644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:865644G>A	ENST00000342066.3	+	3	265	c.182G>A	c.(181-183)aGt>aAt	p.S61N	AL645608.1_ENST00000598827.1_Missense_Mutation_p.T33I	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	61						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AGCGACGGGAGTGGCCCCACC	0.642000													6	6					0	0	0.001984	0	0
SFTPA2	729238	broad.mit.edu	37	10	81319179	81319179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:81319179C>T	ENST00000372325.2	-	3	145	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	SFTPA2_ENST00000372327.5_Missense_Mutation_p.E21K	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	21					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TCCTTCACTTCGCACGCAGCA	0.642000									Pulmonary Fibrosis, Idiopathic				44	71					0	0	0.003610	0	0
C19orf57	79173	broad.mit.edu	37	19	13996861	13996861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:13996861G>A	ENST00000454313.1	-	7	1734	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	C19orf57_ENST00000586783.1_Missense_Mutation_p.P559L|C19orf57_ENST00000346736.2_Missense_Mutation_p.P559L|C19orf57_ENST00000591586.1_Missense_Mutation_p.P134L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	559					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GTTCCCCGAAGGAAAGAGCTG	0.622000													15	20					0	0	0.004007	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554476	20554476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:20554476C>T	ENST00000329697.6	-	11	1558	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	ACSM2B_ENST00000565232.1_Missense_Mutation_p.D464N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.D385N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.D464N	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	464					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.D464N(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTAATGATATCATCTGCCCGT	0.507000													66	243					0	0	0.003610	0	0
INTS4P2	644619	broad.mit.edu	37	7	65160071	65160071	+	RNA	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:65160071G>A	ENST00000430126.2	+	0	1241																											GCAGAGCCTTGAAAGAGTGTA	0.493000													45	11					0	0	0.003610	0	0
CD163	9332	broad.mit.edu	37	12	7651761	7651761	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:7651761G>A	ENST00000359156.4	-	4	683	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	CD163_ENST00000396620.3_Silent_p.L161L|CD163_ENST00000432237.2_Silent_p.L161L|CD163_ENST00000541972.1_Silent_p.L149L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	161	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCACGCGTCAGCCTCATTTCC	0.413000													72	108					0	0	0.003610	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42287671	42287671	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:42287671G>A	ENST00000399518.3	-	12	1620	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.A349A	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	366	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CACCCCCAGTGGCCATGATGG	0.572000													7	13					0	0	0.004482	0	0
XIRP2	129446	broad.mit.edu	37	2	168103448	168103448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:168103448G>A	ENST00000409195.1	+	9	5635	c.5546G>A	c.(5545-5547)aGc>aAc	p.S1849N	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1849N|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1627N|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1674					actin cytoskeleton organization	cell junction	actin binding	p.S1849N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATTCCCTCAGCCAGGCTGTA	0.383000													23	28					0	0	0.002780	0	0
NPIPB3	23117	broad.mit.edu	37	16	21416211	21416211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:21416211G>A	ENST00000458643.2	-	7	1048	c.497C>T	c.(496-498)cCc>cTc	p.P166L	NPIPB3_ENST00000448012.2_Missense_Mutation_p.P311L|NPIPB3_ENST00000542817.1_Missense_Mutation_p.P133L					nuclear pore complex interacting protein family, member B3																		gggtggaAGGGGAGTGAGTAG	0.562000													11	44					0	0	0.004007	0	0
AGRN	375790	broad.mit.edu	37	1	984991	984991	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:984991C>T	ENST00000379370.2	+	26	4610	c.4560C>T	c.(4558-4560)atC>atT	p.I1520I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1520	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGGGGTGCATCCGTTTGCTGG	0.716000													4	3					0	0	0.000248	0	0
GJA1	2697	broad.mit.edu	37	6	121768740	121768740	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:121768740G>A	ENST00000282561.3	+	2	904	c.747G>A	c.(745-747)gcG>gcA	p.A249A		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	249					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.A249A(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTTACCATGCGACCAGTGGTG	0.507000													19	40					0	0	0.001523	0	0
ASXL3	80816	broad.mit.edu	37	18	31323386	31323386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:31323386C>T	ENST00000269197.5	+	12	3574	c.3574C>T	c.(3574-3576)Cca>Tca	p.P1192S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGTAAACTTCCAGAAACTGC	0.413000													18	27					0	0	0.004990	0	0
SLC29A3	55315	broad.mit.edu	37	10	73104034	73104034	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:73104034C>A	ENST00000373189.5	+	3	421	c.369C>A	c.(367-369)ttC>ttA	p.F123L		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	123					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGCCAACTTCCTGCTTGTCA	0.572000													17	38					2.39187e-15	4.48872e-15	0.001216	1	0
PLAGL2	5326	broad.mit.edu	37	20	30784537	30784537	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:30784537G>A	ENST00000246229.4	-	3	1473	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	403						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGCCTCAGAGAGGTTGGCGG	0.642000													8	20					0	0	0.003080	0	0
PTPRO	5800	broad.mit.edu	37	12	15734657	15734657	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:15734657C>T	ENST00000281171.4	+	23	3507	c.3177C>T	c.(3175-3177)gcC>gcT	p.A1059A	PTPRO_ENST00000445537.2_Silent_p.A248A|PTPRO_ENST00000544244.1_Silent_p.A220A|PTPRO_ENST00000442921.2_Silent_p.A248A|PTPRO_ENST00000542557.1_Silent_p.A220A|PTPRO_ENST00000348962.2_Silent_p.A1031A	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1059	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AACCTATAGCCTATGGAGACA	0.448000													28	31					0	0	0.001271	0	0
COL4A6	1288	broad.mit.edu	37	X	107414671	107414671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:107414671C>T	ENST00000394872.2	-	33	3457	c.3226G>A	c.(3226-3228)Gaa>Aaa	p.E1076K	COL4A6_ENST00000372216.4_Missense_Mutation_p.E1076K|COL4A6_ENST00000545689.1_Missense_Mutation_p.E1075K|COL4A6_ENST00000334504.7_Missense_Mutation_p.E1075K|COL4A6_ENST00000538570.1_Missense_Mutation_p.E1075K			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1076	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCGGAAATTTCAACTGTCTGG	0.443000									Alport syndrome with Diffuse Leiomyomatosis				35	9					0	0	0.001287	0	0
TTN	7273	broad.mit.edu	37	2	179399109	179399109	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:179399109T>A	ENST00000589042.1	-	358	102457	c.102233A>T	c.(102232-102234)gAa>gTa	p.E34078V	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25013V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32437V|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25138V|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31510V|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25205V|TTN-AS1_ENST00000588716.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32437	Ig-like 151.						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)			ACTGACTCTTTCTATCTTCTG	0.463000													38	39					0	0	0.005524	0	0
OR8D1	283159	broad.mit.edu	37	11	124179772	124179772	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124179772C>T	ENST00000357821.2	-	1	961	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATGCTTTCTTCACATCCTTAT	0.408000													23	28					0	0	0.002299	0	0
SSTR3	6753	broad.mit.edu	37	22	37602969	37602969	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:37602969A>C	ENST00000328544.3	-	2	1407	c.874T>G	c.(874-876)Ttt>Gtt	p.F292V	SSTR3_ENST00000402501.1_Missense_Mutation_p.F292V	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	292					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TAGAGCCCAAAGAAGGCAGGC	0.612000													29	39					0	0	0.001786	0	0
SLC19A1	6573	broad.mit.edu	37	21	46945830	46945830	+	Silent	SNP	C	C	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:46945830C>A	ENST00000311124.4	-	5	1346	c.1194G>T	c.(1192-1194)ctG>ctT	p.L398L	SLC19A1_ENST00000485649.2_Silent_p.L358L|SLC19A1_ENST00000380010.4_Silent_p.L398L|SLC19A1_ENST00000567670.1_Silent_p.L398L	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	398					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCCCGAAGACCAGGGCACAGA	0.577000													29	54					3.90053e-15	7.3185e-15	0.002445	1	0
OR6C4	341418	broad.mit.edu	37	12	55945717	55945717	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:55945717T>A	ENST00000394256.2	+	1	735	c.707T>A	c.(706-708)tTt>tAt	p.F236Y	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACAAAGGCCTTTTCCACTTGT	0.448000													34	31					0	0	0.001485	0	0
SPAG16	79582	broad.mit.edu	37	2	214878736	214878736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:214878736C>T	ENST00000331683.5	+	13	1557	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	SPAG16_ENST00000374309.3_Missense_Mutation_p.P394S	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	488					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAGTTTTTTCCTTTCTCCAA	0.363000													50	61					0	0	0.003610	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761924	92761924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr7:92761924C>T	ENST00000318238.4	-	5	4577	c.3361G>A	c.(3361-3363)Gat>Aat	p.D1121N	SAMD9L_ENST00000437805.1_Missense_Mutation_p.D1121N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D1121N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1121										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTAGTGTATCTGAAATATAG	0.388000													57	139					0	0	0.003610	0	0
CADPS	8618	broad.mit.edu	37	3	62502278	62502278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:62502278C>T	ENST00000383710.4	-	15	2783	c.2434G>A	c.(2434-2436)Gct>Act	p.A812T	CADPS_ENST00000357948.3_Missense_Mutation_p.A795T|CADPS_ENST00000283269.9_Missense_Mutation_p.A812T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	812	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAGAGAGTAGCTTTCAAAGCA	0.313000													43	57					0	0	0.003610	0	0
TFDP3	51270	broad.mit.edu	37	X	132351975	132351975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chrX:132351975C>T	ENST00000310125.4	-	1	401	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	105						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCATTCTTCTCTCCTTTCCTG	0.582000													31	6					0	0	0.003271	0	0
ADCY8	114	broad.mit.edu	37	8	131861884	131861884	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:131861884G>A	ENST00000286355.5	-	10	4468	c.2376C>T	c.(2374-2376)tcC>tcT	p.S792S	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	792					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			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)			TAATCAAAATGGATGCAAAGA	0.443000										HNSCC(32;0.087)			27	26					0	0	0.002096	0	0
HMGB4	127540	broad.mit.edu	37	1	34330140	34330140	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:34330140G>A	ENST00000522796.1	+	4	2253	c.348G>A	c.(346-348)ccG>ccA	p.P116P	HMGB4_ENST00000519684.1_Silent_p.P116P|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	116						nucleus	DNA binding	p.P116P(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGAGAACCCGAACTGGTCGG	0.567000													56	49					0	0	0.003610	0	0
EML5	161436	broad.mit.edu	37	14	89181462	89181462	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:89181462T>A	ENST00000554922.1	-	9	1513	c.1265A>T	c.(1264-1266)tAc>tTc	p.Y422F	EML5_ENST00000380664.5_Missense_Mutation_p.Y422F|EML5_ENST00000352093.5_Missense_Mutation_p.Y422F	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	422						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AACAGCAAGGTAAGTTCCATC	0.368000													22	5					0	0	0.002780	0	0
TRAV12-1	28674	broad.mit.edu	37	14	22309432	22309432	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:22309432C>T	ENST00000390433.1	+	0	11																											ATGATGATATCCTTGAGAGTT	0.353000													16	40					0	0	0.000958	0	0
LRP1B	53353	broad.mit.edu	37	2	141777596	141777596	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:141777596T>A	ENST00000389484.3	-	12	2836	c.1865A>T	c.(1864-1866)aAa>aTa	p.K622I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	622					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAATGGTTTTCCTATGGCC	0.413000										TSP Lung(27;0.18)			45	61					0	0	0.003610	0	0
TCTE1	202500	broad.mit.edu	37	6	44249952	44249952	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:44249952G>A	ENST00000371505.4	-	4	1313	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	397										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CATTGCCACCGAGGTGCAGCG	0.582000													20	28					0	0	0.002780	0	0
WDFY3	23001	broad.mit.edu	37	4	85694006	85694006	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:85694006C>T	ENST00000322366.6	-	30	5238	c.4831G>A	c.(4831-4833)Gaa>Aaa	p.E1611K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E1611K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1611						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			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)		AGCTTCTCTTCATTATTTATT	0.348000													13	15					0	0	0.003163	0	0
TAOK2	9344	broad.mit.edu	37	16	30002405	30002405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:30002405C>T	ENST00000279394.3	+	19	3069	c.2666C>T	c.(2665-2667)tCc>tTc	p.S889F		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	770	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ACAGGACGCTCCGAGCGAATC	0.662000													22	27					0	0	0.002780	0	0
VANGL2	57216	broad.mit.edu	37	1	160385896	160385896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:160385896G>A	ENST00000368061.2	+	3	590	c.116G>A	c.(115-117)cGa>cAa	p.R39Q		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	39					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGGGGGCCGAGGGGACAAG	0.642000													17	47					0	0	0.000958	0	0
MAP3K5	4217	broad.mit.edu	37	6	136923095	136923095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr6:136923095G>A	ENST00000359015.4	-	20	3062	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L	MAP3K5_ENST00000355845.4_Missense_Mutation_p.P148L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	901	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGGGATCTCAGGGTGGACTTT	0.443000													27	34					0	0	0.002096	0	0
ULK4	54986	broad.mit.edu	37	3	41795885	41795885	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:41795885G>A	ENST00000301831.4	-	22	2751	c.2289C>T	c.(2287-2289)aaC>aaT	p.N763N		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	763							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		ACATCTCACGGTTATAAATCA	0.393000													53	81					0	0	0.003610	0	0
ROBO1	6091	broad.mit.edu	37	3	78734984	78734984	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:78734984G>A	ENST00000436010.2	-	8	2134	c.1137C>T	c.(1135-1137)gtC>gtT	p.V379V	ROBO1_ENST00000467549.1_Silent_p.V382V|ROBO1_ENST00000464233.1_Silent_p.V418V|ROBO1_ENST00000495273.1_Silent_p.V382V			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	418	Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGATCGCTGGACATTAGTAA	0.408000													17	11					0	0	0.004007	0	0
COL14A1	7373	broad.mit.edu	37	8	121228714	121228714	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:121228714G>A	ENST00000297848.3	+	14	1992	c.1722G>A	c.(1720-1722)ggG>ggA	p.G574G	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Silent_p.G574G|COL14A1_ENST00000247781.3_Silent_p.G479G|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	574	Fibronectin type-III 4.				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)			ATGCAGATGGGACTGAAATCA	0.393000													55	32					0	0	0.003610	0	0
FAM83H	286077	broad.mit.edu	37	8	144808844	144808844	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr8:144808844G>A	ENST00000388913.3	-	5	2912	c.2787C>T	c.(2785-2787)ccC>ccT	p.P929P		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	929					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTCCGGCACGGGGGGCACCG	0.731000													6	5					0	0	0.001984	0	0
IL32	9235	broad.mit.edu	37	16	3119311	3119311	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:3119311G>A	ENST00000525643.2	+	7	854	c.522G>A	c.(520-522)gaG>gaA	p.E174E	IL32_ENST00000529550.1_Silent_p.E174E|IL32_ENST00000008180.9_Silent_p.E154E|IL32_ENST00000552936.1_Silent_p.E198E|IL32_ENST00000552664.1_Silent_p.E174E|IL32_ENST00000552356.1_Silent_p.E154E|IL32_ENST00000551513.1_Silent_p.E211E|IL32_ENST00000551122.1_Silent_p.E117E|IL32_ENST00000549213.1_Silent_p.E117E|IL32_ENST00000534507.1_Silent_p.E220E|IL32_ENST00000548652.1_Silent_p.E165E|IL32_ENST00000529699.1_Silent_p.E154E|IL32_ENST00000531965.1_Silent_p.E164E|IL32_ENST00000530890.1_Silent_p.E154E|IL32_ENST00000528163.2_Silent_p.E174E|IL32_ENST00000530538.2_Silent_p.E174E|IL32_ENST00000548476.1_Silent_p.E220E|IL32_ENST00000440815.3_Silent_p.E174E|IL32_ENST00000325568.5_Silent_p.E174E|IL32_ENST00000533097.2_Silent_p.E174E|IL32_ENST00000382213.3_Silent_p.E165E|IL32_ENST00000444393.3_Silent_p.E174E|IL32_ENST00000526464.2_Silent_p.E174E|IL32_ENST00000396887.3_Silent_p.E117E|IL32_ENST00000396890.2_Silent_p.E220E|IL32_ENST00000548246.1_Silent_p.E134E			P24001	IL32_HUMAN	interleukin 32	220					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGGACAAGGAGGAGCTGACAC	0.582000													29	88					0	0	0.001786	0	0
TRPM2	7226	broad.mit.edu	37	21	45819208	45819208	+	Missense_Mutation	SNP	G	G	A	rs150593294		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr21:45819208G>A	ENST00000397928.1	+	14	2537	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.E698K|TRPM2_ENST00000300481.9_Missense_Mutation_p.E678K|TRPM2_ENST00000397932.2_Missense_Mutation_p.E698K	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	698						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCGGAAGGACGAAGAGAGAGC	0.627000													14	26					0	0	0.004007	0	0
DSG1	1828	broad.mit.edu	37	18	28934291	28934291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr18:28934291G>A	ENST00000257192.4	+	15	2344	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	DSG1_ENST00000462981.2_Missense_Mutation_p.G70E|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	711					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAAGATGAAGGACGCCCATCT	0.388000													30	53					0	0	0.003271	0	0
ATR	545	broad.mit.edu	37	3	142280213	142280213	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:142280213G>A	ENST00000350721.4	-	5	1342	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	ATR_ENST00000383101.3_Silent_p.I407I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	407					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTCCTCAATGATTTCCATAC	0.363000								Other conserved DNA damage response genes					21	28					0	0	0.001523	0	0
CASP10	843	broad.mit.edu	37	2	202074144	202074144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr2:202074144C>T	ENST00000286186.6	+	9	1709	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	CASP10_ENST00000313728.7_Missense_Mutation_p.S358F|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.S382F|CASP10_ENST00000448480.1_Missense_Mutation_p.S382F|CASP10_ENST00000272879.5_Missense_Mutation_p.S425F|CASP10_ENST00000492363.1_3'UTR	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	425					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GCACCCACTTCCCTGCAGGAC	0.532000													46	55					0	0	0.003610	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751814	26751814	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:26751814G>A	ENST00000396641.2	+	2	1243	c.651G>A	c.(649-651)gtG>gtA	p.V217V	LRRC3B_ENST00000456208.2_Silent_p.V217V|LRRC3B_ENST00000417744.1_Silent_p.V217V	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	217						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TCACTATGGTGATCTCATATG	0.468000													10	17					0	0	0.000673	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028176	21028176	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:21028176C>T	ENST00000381545.3	+	9	954	c.735C>T	c.(733-735)atC>atT	p.I245I	SLCO1B3_ENST00000261196.2_Silent_p.I245I|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.I245I|LST3_ENST00000540229.1_Silent_p.I245I|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	245					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.I245M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TAGGCACTATCAGAATAACTC	0.383000													55	102					0	0	0.003610	0	0
ADAD2	161931	broad.mit.edu	37	16	84227647	84227647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr16:84227647G>A	ENST00000268624.3	+	2	547	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000315906.5_Intron	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	0	DRBM.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TGGAGGAGAGGAATTGAAAGC	0.473000													29	48					0	0	0.004878	0	0
BCL6	604	broad.mit.edu	37	3	187442795	187442795	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:187442795G>A	ENST00000406870.2	-	9	2277	c.1911C>T	c.(1909-1911)acC>acT	p.T637T	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Silent_p.T637T|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Silent_p.T581T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	637					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GCCGGAAACGGGTGCCACAGA	0.552000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								22	40					0	0	0.001882	0	0
TP53	7157	broad.mit.edu	37	17	7576857	7576857	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:7576857A>C	ENST00000420246.2	-	9	1121	c.989T>G	c.(988-990)cTt>cGt	p.L330R	TP53_ENST00000445888.2_Missense_Mutation_p.L330R|TP53_ENST00000455263.2_Missense_Mutation_p.L330R|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.L330R|TP53_ENST00000359597.4_Missense_Mutation_p.L330R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	330	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		L -> H (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> R (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.0?(8)|p.L330H(3)|p.?(1)|p.L330P(1)|p.L330R(1)|p.Q331fs*14(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)		TAGTACCTGAAGGGTGAAATA	0.453000		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)			34	15					0	0	0.003755	0	0
ZNF438	220929	broad.mit.edu	37	10	31134408	31134408	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr10:31134408G>A	ENST00000538351.1	-	8	2576	c.1822C>T	c.(1822-1824)Cag>Tag	p.Q608*	ZNF438_ENST00000331737.6_Nonsense_Mutation_p.Q647*|ZNF438_ENST00000452305.1_Nonsense_Mutation_p.Q647*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.Q647*|ZNF438_ENST00000413025.1_Nonsense_Mutation_p.Q657*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.Q657*|ZNF438_ENST00000361310.3_Nonsense_Mutation_p.Q657*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.Q657*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.Q221*	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GCAAAAGACTGAGCAGTAATC	0.428000													27	37					0	0	0.001271	0	0
ANP32A	8125	broad.mit.edu	37	15	69076829	69076829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr15:69076829G>A	ENST00000465139.2	-	4	576	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F	ANP32A_ENST00000560303.1_Missense_Mutation_p.L145F|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	145	LRRCT.				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						TAGCCGTCGAGATATGTGAGT	0.537000													17	29					0	0	0.004990	0	0
MMP26	56547	broad.mit.edu	37	11	5012670	5012670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:5012670G>A	ENST00000380390.1	+	5	755	c.539G>A	c.(538-540)gGa>gAa	p.G180E	MMP26_ENST00000300762.1_Missense_Mutation_p.G180E			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	180					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G180E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAAATTCTGGAAATCCTGGA	0.473000													61	73					0	0	0.003610	0	0
LRRC7	57554	broad.mit.edu	37	1	70504756	70504756	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:70504756A>T	ENST00000310961.5	+	22	3568	c.3150A>T	c.(3148-3150)gaA>gaT	p.E1050D	LRRC7_ENST00000415775.2_Missense_Mutation_p.E329D|LRRC7_ENST00000035383.5_Missense_Mutation_p.E1045D			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1045						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						TGAAAGCCGAAAAGAGGATAC	0.438000													14	26					0	0	0.004007	0	0
MADCAM1	8174	broad.mit.edu	37	19	501732	501732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr19:501732C>T	ENST00000587541.1	+	2	928	c.74C>T	c.(73-75)aCc>aTc	p.T25I	MADCAM1_ENST00000346144.4_Intron|MADCAM1_ENST00000382683.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000215637.3_Missense_Mutation_p.T244I			Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	244	Ig-like 1.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		CCCGACACCACCTCCCCGGAG	0.682000													7	11					0	0	0.000443	0	0
CD200R1L	344807	broad.mit.edu	37	3	112538669	112538669	+	Silent	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:112538669G>A	ENST00000488794.1	-	7	1279	c.690C>T	c.(688-690)gtC>gtT	p.V230V	CD200R1L_ENST00000398214.1_Silent_p.V251V|CD200R1L_ENST00000448932.1_Silent_p.V230V			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	251						integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGACCAGAATGACCACAAAAA	0.383000													26	38					0	0	0.003954	0	0
WFDC11	259239	broad.mit.edu	37	20	44279216	44279216	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:44279216C>T	ENST00000356562.2	-	3	245	c.24G>A	c.(22-24)tgG>tgA	p.W8*	WFDC11_ENST00000324384.3_Nonsense_Mutation_p.W8*			Q8NEX6	WFD11_HUMAN	WAP four-disulfide core domain 11	8						extracellular region				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				GCATGGGTATCCAGAGCTTCA	0.443000													70	31					0	0	0.003610	0	0
MAEA	10296	broad.mit.edu	37	4	1309274	1309274	+	Silent	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:1309274C>T	ENST00000303400.4	+	3	405	c.342C>T	c.(340-342)ccC>ccT	p.P114P	MAEA_ENST00000514708.1_Silent_p.P114P|MAEA_ENST00000510794.1_Silent_p.P113P|MAEA_ENST00000505839.1_Silent_p.P66P|MAEA_ENST00000505177.2_Silent_p.P114P|MAEA_ENST00000264750.6_Silent_p.P114P|MAEA_ENST00000452175.2_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	114	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GCGACCAGCCCGCGGCGGCCA	0.647000													21	32					0	0	0.002780	0	0
KRT16P6	353194	broad.mit.edu	37	17	16725386	16725386	+	RNA	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr17:16725386C>T	ENST00000417510.1	-	0	507																											ACCTCCAGGTCAGCGTTGGCC	0.562000													28	6					0	0	0.002445	0	0
KL	9365	broad.mit.edu	37	13	33629411	33629411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr13:33629411C>T	ENST00000380099.3	+	3	1566	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.P213S	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	520	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P520S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGGGACATTTCCCTGTGACTT	0.438000													56	37					0	0	0.003610	0	0
NRXN3	9369	broad.mit.edu	37	14	79117583	79117583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr14:79117583G>A	ENST00000554719.1	+	3	507	c.16G>A	c.(16-18)Gac>Aac	p.D6N	NRXN3_ENST00000335750.5_Missense_Mutation_p.D6N	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGGCTCGGACGACTTCTTCTA	0.522000													72	11					0	0	0.003610	0	0
OR10J3	441911	broad.mit.edu	37	1	159283647	159283647	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:159283647G>A	ENST00000332217.5	-	1	802	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					CTGTCCCAGGGAACTCTGGGA	0.532000													28	66					0	0	0.001061	0	0
OR2M3	127062	broad.mit.edu	37	1	248366915	248366916	+	Frame_Shift_Ins	INS	-	-	T	rs141760284	byFrequency	TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr1:248366915_248366916insT	ENST00000456743.1	+	1	584_585	c.546_547insT	c.(544-549)ccccctfs	p.PP182fs		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTGACTTCCCCTCCCTACTAAT	0.421													70	150	---	---	---	---					
SLC38A3	10991	broad.mit.edu	37	3	50255525	50255525	+	RNA	DEL	C	C	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:50255525delC	ENST00000420502.1	+	0	1088							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GTGACAGGAGCCAAGTCACTT	0.537													4	5	---	---	---	---					
RASA2	5922	broad.mit.edu	37	3	141277785	141277785	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr3:141277785delA	ENST00000286364.3	+	8	777	c.742delA	c.(742-744)ttfs	p.I248fs	RASA2_ENST00000452898.1_Frame_Shift_Del_p.I248fs			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	248	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGAGGAGGACATTGAAAAGCT	0.318													49	31	---	---	---	---					
GYPB	2994	broad.mit.edu	37	4	144940417	144940417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr4:144940417delT	ENST00000502664.1	-	1	75	c.24delA	c.(22-24)gtfs	p.V8fs	GYPB_ENST00000283126.7_Intron|GYPB_ENST00000513128.1_Frame_Shift_Del_p.V8fs|GYPB_ENST00000429670.2_Frame_Shift_Del_p.V8fs|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000510196.2_5'UTR	NM_002100.4	NP_002091.3			glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					ACAATAGTAATACAAAGATTA	0.343													8	19	---	---	---	---					
TAS2R1	50834	broad.mit.edu	37	5	9629698	9629698	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr5:9629698delC	ENST00000382492.2	-	1	765	c.447delG	c.(445-447)ggfs	p.G149fs	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	149					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGACCATAAACCCTGCATATT	0.393													24	43	---	---	---	---					
DYNC2H1	79659	broad.mit.edu	37	11	103033810	103033832	+	Frame_Shift_Del	DEL	GAAGGAATGTGTTACTACTGGGC	GAAGGAATGTGTTACTACTGGGC	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:103033810_103033832delGAAGGAATGTGTTACTACTGGGC	ENST00000375735.2	+	30	4689_4711	c.4545_4567delGAAGGAATGTGTTACTACTGGGC	c.(4543-4569)ttgafs	p.LKECVTTGR1515fs	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.LKECVTTGR1515fs	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1515	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)		AACAGTTGTTGAAGGAATGTGTTACTACTGGGCGAAGTTCTCA	0.395													9	238	---	---	---	---					
CCDC15	80071	broad.mit.edu	37	11	124856681	124856681	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr11:124856681delT	ENST00000529051.1	+	7	1056	c.797delT	c.(796-798)ctfs	p.L266fs	CCDC15_ENST00000344762.5_Frame_Shift_Del_p.L266fs			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	266						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TCTTCATCTCTTGTAACTGAT	0.453													2	4	---	---	---	---					
SLC9A7P1	121456	broad.mit.edu	37	12	98849719	98849726	+	RNA	DEL	TGAGCTTG	TGAGCTTG	-	rs112439130		TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:98849719_98849726delTGAGCTTG	ENST00000554295.1	-	0	1197_1204					NR_033801.1																						GAAGGTGTAATGAGCTTGTGTGATTCCA	0.490													16	86	---	---	---	---					
HCFC2	29915	broad.mit.edu	37	12	104496938	104496942	+	Frame_Shift_Del	DEL	ACATC	ACATC	-			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr12:104496938_104496942delACATC	ENST00000229330.4	+	15	2370_2374	c.2266_2270delACATC	c.(2266-2271)cfs	p.TS756fs	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	756	Fibronectin type-III 3.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TATTGATTATACATCCAGGCCTGCC	0.400													27	69	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57829676	57829677	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr20:57829676_57829677insT	ENST00000371030.2	+	5	4912_4913	c.4912_4913insT	c.(4912-4914)tccfs	p.S1638fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1638						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)					GCCCATAGAAATTCCTGAAGCC	0.480													21	77	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-EE-A29E-06A-11D-A197-08	TCGA-EE-A29E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d76a236-62ac-4e16-8575-cac08a9d40de	8abc37be-e9b6-4481-9c98-560d410b2835	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													2	4	---	---	---	---					
