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
FGL2	10875	broad.mit.edu	37	7	76825931	76825931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:76825931G>A	ENST00000248598.5	-	2	1017	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	329	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						ACGTGTAAACGATATTTGAGA	0.358000													30	59					0	0	0.007291	0	0
VEZT	55591	broad.mit.edu	37	12	95668613	95668613	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:95668613C>T	ENST00000436874.1	+	7	1049	c.944C>T	c.(943-945)tCa>tTa	p.S315L	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.S267L	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	315						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GAGCAGATTTCAGAAGAGGAA	0.438000													45	58					0	0	0.003610	0	0
TICAM1	148022	broad.mit.edu	37	19	4818134	4818134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:4818134G>A	ENST00000248244.5	-	2	485	c.256C>T	c.(256-258)Cca>Tca	p.P86S		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	86					apoptosis|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|positive regulation of I-kappaB kinase/NF-kappaB 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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCTCCTCTGGGTCCTCGGTG	0.677000													6	0					0	0	0.001168	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807905	18807905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:18807905G>A	ENST00000400664.1	+	1	482	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	144						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)		CCCCAGCCAGGAAACCAGAAC	0.632000													17	25					0	0	0.007413	0	0
GPER1	2852	broad.mit.edu	37	7	1132360	1132360	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:1132360G>C	ENST00000397092.1	+	3	1880	c.996G>C	c.(994-996)agG>agC	p.R332S	C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.R332S|GPER_ENST00000397088.3_Missense_Mutation_p.R332S|GPER_ENST00000297469.3_Missense_Mutation_p.R332S|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		332						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		AGACCTTCAGGGACAAGCTGA	0.587000													24	42					0	0	0.006320	0	0
SVEP1	79987	broad.mit.edu	37	9	113208240	113208240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:113208240G>A	ENST00000401783.2	-	26	4676	c.4340C>T	c.(4339-4341)tCt>tTt	p.S1447F	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.S1424F|SVEP1_ENST00000302728.8_Missense_Mutation_p.S1447F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1447	Pentaxin.				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						AGCATGGAGAGATGGGAGCAT	0.433000													25	39					0	0	0.003330	0	0
MCHR2	84539	broad.mit.edu	37	6	100368857	100368857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:100368857C>T	ENST00000281806.2	-	6	1296	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	MCHR2_ENST00000445970.1_Missense_Mutation_p.E328K|MCHR2_ENST00000369212.1_Missense_Mutation_p.E328K	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	328						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)		TTGTTGATTTCCTTCTCAGTC	0.413000													46	14					0	0	0.003610	0	0
SSFA2	6744	broad.mit.edu	37	2	182763783	182763783	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:182763783G>A	ENST00000431877.2	+	6	626	c.447G>A	c.(445-447)caG>caA	p.Q149Q	SSFA2_ENST00000409001.1_Silent_p.Q149Q|SSFA2_ENST00000428267.2_5'UTR|SSFA2_ENST00000320370.7_Silent_p.Q149Q	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	149						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AGTTTCATCAGAAAGGGAGAA	0.323000													15	26					0	0	0.007413	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							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)		TCTTAACTTACTGTTGTGAAA	0.418000													5	53					0	0	0.001168	0	0
CNKSR2	22866	broad.mit.edu	37	X	21581385	21581385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:21581385G>A	ENST00000425654.2	+	12	1813	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	CNKSR2_ENST00000379510.3_Missense_Mutation_p.E475K|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E426K|CNKSR2_ENST00000279451.4_Missense_Mutation_p.E475K	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	475	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TATGAGCAATGAAAAGATTGC	0.328000													19	33					0	0	0.001216	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140731171	140731171	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:140731171C>T	ENST00000523390.1	+	1	1344	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_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)			CACCTGTTTTCCATCAGGCCT	0.562000													14	23					0	0	0.001855	0	0
PZP	5858	broad.mit.edu	37	12	9302169	9302169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:9302169G>A	ENST00000261336.2	-	35	4442	c.4414C>T	c.(4414-4416)Ccc>Tcc	p.P1472S	PZP_ENST00000381997.2_Missense_Mutation_p.P1258S	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						GTGCTGCAGGGGGCGATATAC	0.448000													27	62					0	0	0.001786	0	0
CEACAM18	729767	broad.mit.edu	37	19	51983636	51983636	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:51983636C>T	ENST00000396477.4	+	2	123	c.102C>T	c.(100-102)atC>atT	p.I34I	CEACAM18_ENST00000451626.1_Silent_p.I95I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	95						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)		AAATCTTCATCACCCAAACCC	0.512000													11	5					0	0	0.000978	0	0
EDNRB	1910	broad.mit.edu	37	13	78492623	78492623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:78492623C>T	ENST00000377211.4	-	2	508	c.356G>A	c.(355-357)aGa>aAa	p.R119K	EDNRB_ENST00000446573.1_Missense_Mutation_p.R29K|EDNRB_ENST00000334286.5_Missense_Mutation_p.R29K|EDNRB_ENST00000475537.1_5'UTR	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	29					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CGGGAAGCCTCTCTCCTCTCC	0.627000											OREG0022452	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	37					0	0	0.001882	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564531	66564531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:66564531G>A	ENST00000360242.5	+	6	1246	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E377K|CCDC102B_ENST00000358653.5_Missense_Mutation_p.E377K|CCDC102B_ENST00000319445.6_Missense_Mutation_p.E377K	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	377										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)				GCAGGGACTGGAGAGAGAAAA	0.398000													50	66					0	0	0.003610	0	0
CROCCP2	84809	broad.mit.edu	37	1	16958769	16958769	+	RNA	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:16958769C>T	ENST00000412962.1	-	0	74																											CTGAAGCTCACCAGGGCCTCA	0.622000													4	14					0	0	0.000602	0	0
RGS7	6000	broad.mit.edu	37	1	240966207	240966207	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:240966207T>A	ENST00000366565.1	-	16	1737	c.1356A>T	c.(1354-1356)aaA>aaT	p.K452N	RGS7_ENST00000366564.1_Missense_Mutation_p.K452N|RGS7_ENST00000366563.1_Missense_Mutation_p.K452N|RGS7_ENST00000348120.2_Missense_Mutation_p.K399N|RGS7_ENST00000366562.4_Missense_Mutation_p.K452N|RGS7_ENST00000331110.7_Missense_Mutation_p.K426N|RGS7_ENST00000446183.2_Missense_Mutation_p.K368N|RGS7_ENST00000407727.1_Missense_Mutation_p.K452N|RGS7_ENST00000401882.1_Missense_Mutation_p.K399N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	452					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)			CCAGTACCTTTTTCTTTGCCT	0.358000													59	55					0	0	0.003610	0	0
ELAVL2	1993	broad.mit.edu	37	9	23731048	23731048	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:23731048C>T	ENST00000397312.2	-	3	579	c.305G>A	c.(304-306)gGa>gAa	p.G102E	ELAVL2_ENST00000380117.1_Missense_Mutation_p.G102E|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G102E|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G131E|ELAVL2_ENST00000544538.1_Missense_Mutation_p.G102E	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	102	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AAGTCTCAATCCATTCAGGGT	0.348000													14	9					0	0	0.004007	0	0
OR4C3	256144	broad.mit.edu	37	11	48346890	48346890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:48346890G>A	ENST00000319856.4	+	1	419	c.398G>A	c.(397-399)gGa>gAa	p.G133E		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	106					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						CATTTTTTGGGAGGTGTTGAG	0.473000													27	222					0	0	0.004289	0	0
CGNL1	84952	broad.mit.edu	37	15	57836732	57836732	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:57836732G>A	ENST00000281282.5	+	16	3515	c.3437G>A	c.(3436-3438)gGg>gAg	p.G1146E		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1146						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAAAGAGGGGCTGGTTGTG	0.602000													8	14					0	0	0.003080	0	0
KDM4B	23030	broad.mit.edu	37	19	5110694	5110694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:5110694C>T	ENST00000159111.4	+	10	1198	c.980C>T	c.(979-981)cCc>cTc	p.P327L	KDM4B_ENST00000381759.4_Missense_Mutation_p.P327L|KDM4B_ENST00000536461.1_Missense_Mutation_p.P327L	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	327					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCCTGCAGCCCGAGCGCTAC	0.672000													13	6					0	0	0.001368	0	0
ELMO2	63916	broad.mit.edu	37	20	45022720	45022720	+	Silent	SNP	G	G	A	rs147152999		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:45022720G>A	ENST00000290246.6	-	4	281	c.87C>T	c.(85-87)ccC>ccT	p.P29P	ELMO2_ENST00000396391.1_Silent_p.P29P|ELMO2_ENST00000439931.2_Silent_p.P29P|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000352077.2_Silent_p.P29P	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	29					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TGGATGCCAGGGGCCGTTTCT	0.507000													6	22					0	0	0.003080	0	0
MGAM	8972	broad.mit.edu	37	7	141756640	141756640	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141756640C>G	ENST00000475668.2	+	30	3645	c.3591C>G	c.(3589-3591)ttC>ttG	p.F1197L	MGAM_ENST00000549489.2_Missense_Mutation_p.F1197L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1197	Glucoamylase.				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)	ATGTGACGTTCCAGCCCCTGC	0.522000													25	45					0	0	0.004656	0	0
PARP10	84875	broad.mit.edu	37	8	145057635	145057635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:145057635G>A	ENST00000313028.7	-	8	2216	c.2122C>T	c.(2122-2124)Cag>Tag	p.Q708*	PARP10_ENST00000525773.1_Nonsense_Mutation_p.Q720*|PARP10_ENST00000524918.1_Nonsense_Mutation_p.Q699*	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	708	Myc binding.					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)			ACCACCAGCTGGGCCTTGCCA	0.687000													6	10					0	0	0.001168	0	0
CLDN17	26285	broad.mit.edu	37	21	31538540	31538540	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr21:31538540G>A	ENST00000286808.3	-	1	431	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	132					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GAATCAGAACGAAGATGCCCG	0.512000													35	13					0	0	0.005524	0	0
NR3C2	4306	broad.mit.edu	37	4	149357223	149357223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:149357223G>A	ENST00000355292.3	-	2	1152	c.790C>T	c.(790-792)Ccg>Tcg	p.P264S	NR3C2_ENST00000342437.4_Missense_Mutation_p.P264S|NR3C2_ENST00000358102.3_Missense_Mutation_p.P264S|NR3C2_ENST00000344721.4_Missense_Mutation_p.P264S|NR3C2_ENST00000511528.1_Missense_Mutation_p.P264S|NR3C2_ENST00000512865.1_Missense_Mutation_p.P264S			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	264	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CTACTTAACGGACTTGAGAGA	0.502000													37	52					0	0	0.005524	0	0
TRHDE	29953	broad.mit.edu	37	12	72863581	72863581	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:72863581C>G	ENST00000261180.4	+	4	1320	c.1224C>G	c.(1222-1224)aaC>aaG	p.N408K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	408	Substrate binding (By similarity).				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						CTATGGAGAACTGGGGACTAA	0.378000													32	46					0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179611649	179611649	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:179611649C>T	ENST00000360870.5	-	46	15700	c.15478G>A	c.(15478-15480)Gaa>Aaa	p.E5160K	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	7077	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCCATATTTCATAAGCTGAA	0.398000													35	66					0	0	0.003271	0	0
MAP3K9	4293	broad.mit.edu	37	14	71197414	71197414	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:71197414T>A	ENST00000554752.2	-	12	2997	c.2998A>T	c.(2998-3000)Aac>Tac	p.N1000Y	MAP3K9_ENST00000555993.2_Missense_Mutation_p.N1014Y|MAP3K9_ENST00000554146.1_Missense_Mutation_p.N728Y|MAP3K9_ENST00000381250.4_Missense_Mutation_p.N977Y|MAP3K9_ENST00000553414.1_Missense_Mutation_p.N733Y			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1000					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGTTGCCGGTTGGCAGAAGGA	0.637000													22	50					0	0	0.004656	0	0
AMICA1	120425	broad.mit.edu	37	11	118081353	118081353	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:118081353C>T	ENST00000292067.7	-	3	684	c.243G>A	c.(241-243)atG>atA	p.M81I	AMICA1_ENST00000533261.1_Missense_Mutation_p.M91I|AMICA1_ENST00000526620.1_Missense_Mutation_p.M52I|AMICA1_ENST00000356289.5_Missense_Mutation_p.M91I	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	91	Ig-like V-type 1.				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)		AGATGTCCCCCATCAAGTGTA	0.502000													34	22					0	0	0.006230	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247212	142247212	+	RNA	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:142247212C>T	ENST00000390361.3	-	0	293																											AAGAACCGATCGTTGGGCAGC	0.572000													24	54					0	0	0.003330	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	55					0	0	0.004672	0	0
CBS	875	broad.mit.edu	37	21	44479065	44479065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr21:44479065G>A	ENST00000398165.3	-	14	1496	c.1237C>T	c.(1237-1239)Cgt>Tgt	p.R413C	CBS_ENST00000398168.1_Missense_Mutation_p.R413C|CBS_ENST00000398158.1_Missense_Mutation_p.R413C|CBS_ENST00000352178.5_Missense_Mutation_p.R413C|CBS_ENST00000359624.3_Missense_Mutation_p.R413C|CBS_ENST00000544202.1_Missense_Mutation_p.R325C	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	413					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TCCTGAACACGGAGGTGCCAC	0.667000													29	18					0	0	0.007291	0	0
TNR	7143	broad.mit.edu	37	1	175292613	175292613	+	Splice_Site	SNP	C	C	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:175292613C>A	ENST00000367674.1	-	23	4666		c.e23-1		TNR_ENST00000263525.2_Splice_Site|RP3-518E13.2_ENST00000569593.1_RNA	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R						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)					AGTTGATGCCCTGGGCGTGAG	0.517000													35	36					9.04072e-19	1.06882e-18	0.003271	1	0
CCDC80	151887	broad.mit.edu	37	3	112358255	112358255	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:112358255G>A	ENST00000206423.3	-	2	1451	c.498C>T	c.(496-498)ctC>ctT	p.L166L	CCDC80_ENST00000475181.1_5'UTR|CCDC80_ENST00000439685.2_Silent_p.L166L	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	166										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGCTCATCATGAGGCGGTAGT	0.572000													25	8					0	0	0.005443	0	0
RBM10	8241	broad.mit.edu	37	X	47044469	47044469	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:47044469G>A	ENST00000377604.3	+	18	2708	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	RBM10_ENST00000345781.6_Missense_Mutation_p.E579K|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Missense_Mutation_p.E578K	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	656					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CAAGGACATGGAACGCTGGGC	0.552000													7	17					0	0	0.003080	0	0
CADM2	253559	broad.mit.edu	37	3	85961555	85961555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:85961555C>T	ENST00000383699.3	+	6	1189	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	CADM2_ENST00000405615.2_Missense_Mutation_p.R181C|CADM2_ENST00000407528.2_Missense_Mutation_p.R179C	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	179	Ig-like C2-type 1.				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)		GGATGCAAATCGCAAGACATT	0.388000													17	11					0	0	0.004990	0	0
CCDC40	55036	broad.mit.edu	37	17	78073453	78073453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:78073453G>A	ENST00000397545.4	+	20	3335	c.3308G>A	c.(3307-3309)cGa>cAa	p.R1103Q		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1103					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGGACAAGCGACTGGCTCTC	0.632000													12	24					0	0	0.007413	0	0
GALNTL6	442117	broad.mit.edu	37	4	173930333	173930333	+	Missense_Mutation	SNP	G	G	A	rs146923140		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:173930333G>A	ENST00000506823.1	+	11	2033	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q	GALNTL6_ENST00000508122.1_Missense_Mutation_p.R442Q	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	459	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCACAGATCCGAAATGTGGCA	0.443000													65	51					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141721452	141721452	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141721452G>C	ENST00000475668.2	+	6	679	c.625G>C	c.(625-627)Gct>Cct	p.A209P	MGAM_ENST00000549489.2_Missense_Mutation_p.A209P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	209	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)	CAGTGGAAATGCTGCTGCTTC	0.428000													33	126					0	0	0.001786	0	0
BICD2	23299	broad.mit.edu	37	9	95481024	95481024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:95481024G>A	ENST00000356884.6	-	5	1970	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	BICD2_ENST00000375512.3_Missense_Mutation_p.R635C	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	635					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCTGGTCACGGATGATAGCG	0.652000													45	71					0	0	0.002522	0	0
OR2T12	127064	broad.mit.edu	37	1	248458252	248458252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:248458252G>A	ENST00000317996.1	-	1	628	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	210					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)			CAGGATGAGGGAAAAGGGGAC	0.547000													17	45					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179596940	179596940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:179596940C>T	ENST00000589042.1	-	57	16980	c.16756G>A	c.(16756-16758)Gag>Aag	p.E5586K	TTN_ENST00000591111.1_Missense_Mutation_p.E5269K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4342K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5269	Ig-like 36.						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)			TTGCTGCTCTCCTTAATTTCT	0.433000													54	102					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179441542	179441542	+	Silent	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:179441542A>G	ENST00000589042.1	-	325	69653	c.69429T>C	c.(69427-69429)ccT>ccC	p.P23143P	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P21502P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.P14270P|TTN_ENST00000460472.2_Silent_p.P14078P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.P14203P|TTN_ENST00000342992.6_Silent_p.P20575P|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21502	Ig-like 118.						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)			CTGGTTTTTCAGGAGGGCCAG	0.433000													4	81					0	0	0.000602	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474800	140474800	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:140474800G>A	ENST00000194155.4	+	1	574	c.426G>A	c.(424-426)ttG>ttA	p.L142L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		142	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTTTTGAAAATTCCAG	0.403000													17	20					0	0	0.004007	0	0
UBAC2	337867	broad.mit.edu	37	13	99890808	99890808	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:99890808G>A	ENST00000376440.2	+	2	787	c.284_splice	c.e2+1	p.S95_splice	UBAC2_ENST00000403766.3_Splice_Site_p.Q53_splice	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	130						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACGACTTCCAGGTAAGCTCTG	0.527000													86	154					0	0	0.003610	0	0
MGAM	8972	broad.mit.edu	37	7	141755436	141755436	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141755436C>T	ENST00000475668.2	+	28	3447	c.3393C>T	c.(3391-3393)ctC>ctT	p.L1131L	MGAM_ENST00000549489.2_Silent_p.L1131L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1131	Glucoamylase.				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)	CCAAGTACCTCTATGGCTTTG	0.532000													83	134					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13714639	13714639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:13714639C>T	ENST00000265104.4	-	75	13104	c.13000G>A	c.(13000-13002)Gac>Aac	p.D4334N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4334					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)					AGGATGGTGTCCAGCACGTCC	0.592000									Kartagener syndrome				37	56					0	0	0.004878	0	0
MIR526B	574468	broad.mit.edu	37	19	54197726	54197726	+	RNA	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:54197726C>T	ENST00000384848.1	+	0	80					NR_030190.1																						GGCTTACTGTCTGAGAAAAGC	0.418000													19	5					0	0	0.007413	0	0
SLC17A6	57084	broad.mit.edu	37	11	22391620	22391620	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:22391620C>T	ENST00000263160.3	+	8	1364	c.927C>T	c.(925-927)tcC>tcT	p.S309S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	309					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						TTTTTACATCCATGCCAGTCT	0.333000													13	33					0	0	0.003163	0	0
EPPK1	83481	broad.mit.edu	37	8	144946401	144946401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:144946401C>T	ENST00000525985.1	-	2	1092	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K				P58107	EPIPL_HUMAN	epiplakin 1	341						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)			CTGACTGCCTCGTCTACCCAC	0.692000													17	40					0	0	0.004007	0	0
GAD1	2571	broad.mit.edu	37	2	171687659	171687659	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:171687659C>T	ENST00000358196.3	+	5	1054	c.504C>T	c.(502-504)atC>atT	p.I168I	GAD1_ENST00000344257.5_Silent_p.I168I|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000375272.1_Silent_p.I168I	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	168					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGGAGCAGATCCTGGTTGACT	0.557000													49	50					0	0	0.003610	0	0
HSPA4L	22824	broad.mit.edu	37	4	128751808	128751808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:128751808C>T	ENST00000296464.3	+	18	2593	c.2182C>T	c.(2182-2184)Cat>Tat	p.H728Y	HSPA4L_ENST00000508776.1_Missense_Mutation_p.H728Y|HSPA4L_ENST00000439123.2_Missense_Mutation_p.H759Y|HSPA4L_ENST00000505726.1_Missense_Mutation_p.H702Y	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	728					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						AAGATATGATCATCTGGATCC	0.313000													9	18					0	0	0.008291	0	0
PDE4D	5144	broad.mit.edu	37	5	58272190	58272190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:58272190G>A	ENST00000340635.6	-	13	1992	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	PDE4D_ENST00000502484.2_Missense_Mutation_p.S545F|PDE4D_ENST00000546160.1_Missense_Mutation_p.S545F|PDE4D_ENST00000358923.6_Missense_Mutation_p.S304F|PDE4D_ENST00000360047.5_Missense_Mutation_p.S470F|PDE4D_ENST00000503258.1_Missense_Mutation_p.S476F|PDE4D_ENST00000405755.2_Missense_Mutation_p.S484F|PDE4D_ENST00000507116.1_Missense_Mutation_p.S542F|PDE4D_ENST00000317118.8_Missense_Mutation_p.S315F	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	606					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AATCCTATCGGAATAATTATC	0.388000													8	10					0	0	0.006214	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932915	155932915	+	Missense_Mutation	SNP	G	G	A	rs144287482		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:155932915G>A	ENST00000368316.1	-	12	1170	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R262C|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R261C|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R234C|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R263C			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	262					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ATCCCCGTGCGGAAGAGGCGG	0.582000													16	43					0	0	0.004007	0	0
LMO7	4008	broad.mit.edu	37	13	76416006	76416006	+	Silent	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:76416006A>G	ENST00000357063.3	+	25	5334	c.4074A>G	c.(4072-4074)caA>caG	p.Q1358Q	LMO7_ENST00000526202.1_Silent_p.Q950Q|LMO7_ENST00000377534.3_Silent_p.Q1358Q|LMO7_ENST00000341547.4_Silent_p.Q1024Q|LMO7_ENST00000465261.2_Silent_p.Q1073Q|LMO7_ENST00000321797.8_Silent_p.Q1073Q			Q8WWI1	LMO7_HUMAN	LIM domain 7	1358						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)		AGGAAGAGCAAGAGCAAAAGC	0.522000													25	38					0	0	0.003330	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392055	1392055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:1392055G>A	ENST00000324385.5	+	10	1108	c.950G>A	c.(949-951)gGc>gAc	p.G317D	BAIAP3_ENST00000426824.3_Missense_Mutation_p.G282D|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G254D|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G282D|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G299D|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G299D|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G259D	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	317	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)				GGCCTGAAGGGCATGGGCAGG	0.617000													17	25					0	0	0.007413	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634072	70634072	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:70634072G>A	ENST00000381269.2	-	2	1821	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	SLC8A3_ENST00000528359.1_Silent_p.I356I|SLC8A3_ENST00000356921.2_Silent_p.I356I|SLC8A3_ENST00000534137.1_Silent_p.I356I|SLC8A3_ENST00000357887.3_Silent_p.I356I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	356					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GAGTGGCTTGGATACGGTAGA	0.507000													33	57					0	0	0.002836	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138742013	138742013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:138742013G>A	ENST00000389532.4	-	7	1079	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	CAMSAP1_ENST00000409386.3_Nonsense_Mutation_p.Q350*|CAMSAP1_ENST00000312405.6_Nonsense_Mutation_p.Q61*	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	339						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)		TCCCTGGGCTGAACAAAATCT	0.428000													13	11					0	0	0.004007	0	0
DST	667	broad.mit.edu	37	6	56494202	56494202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:56494202G>A	ENST00000370754.5	-	31	4221	c.4222C>T	c.(4222-4224)Cat>Tat	p.H1408Y	DST_ENST00000370769.4_Missense_Mutation_p.H1230Y|DST_ENST00000421834.2_Missense_Mutation_p.H1230Y|DST_ENST00000244364.6_Missense_Mutation_p.H904Y|DST_ENST00000361203.3_Missense_Mutation_p.H1230Y|DST_ENST00000518935.1_Missense_Mutation_p.H904Y|DST_ENST00000370765.6_Missense_Mutation_p.H904Y|DST_ENST00000446842.2_Missense_Mutation_p.H904Y|DST_ENST00000370788.2_Missense_Mutation_p.H1230Y|DST_ENST00000312431.6_Missense_Mutation_p.H1230Y			Q03001	DYST_HUMAN	dystonin	1230					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTAAGGCATGGAATACCTGT	0.338000													24	38					0	0	0.003954	0	0
ZNF519	162655	broad.mit.edu	37	18	14105163	14105163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:14105163G>A	ENST00000590202.1	-	3	1528	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ACATTTGAAAGACTTCTCTCC	0.403000													25	47					0	0	0.003954	0	0
GPR179	440435	broad.mit.edu	37	17	36484236	36484236	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:36484236C>T	ENST00000342292.4	-	11	5236	c.5216G>A	c.(5215-5217)gGa>gAa	p.G1739E	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1739						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)				CTCCCTGGGTCCAAGATCTGC	0.592000													16	7					0	0	0.004990	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377538	125377538	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:125377538C>T	ENST00000297913.2	+	1	591	c.522C>T	c.(520-522)atC>atT	p.I174I	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ATAACAGAATCCCCCACTTCT	0.483000													47	78					0	0	0.003610	0	0
GALNT6	11226	broad.mit.edu	37	12	51751232	51751232	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:51751232G>A	ENST00000543196.2	-	9	1708	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	GALNT6_ENST00000356317.3_Silent_p.I501I			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	501	Ricin B-type lectin.				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						CGAGGTTCTTGATCTGCAGAA	0.587000													24	24					0	0	0.005443	0	0
CCDC146	57639	broad.mit.edu	37	7	76908111	76908111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:76908111C>T	ENST00000285871.4	+	12	1610	c.1483C>T	c.(1483-1485)Ctt>Ttt	p.L495F	CCDC146_ENST00000431197.1_Missense_Mutation_p.L209F|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	495										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGCAAAGGATCTTGAAATCAG	0.303000													16	16					0	0	0.004990	0	0
ELMO2	63916	broad.mit.edu	37	20	45022721	45022721	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:45022721G>A	ENST00000290246.6	-	4	280	c.86C>T	c.(85-87)cCc>cTc	p.P29L	ELMO2_ENST00000396391.1_Missense_Mutation_p.P29L|ELMO2_ENST00000439931.2_Missense_Mutation_p.P29L|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.P29L	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	29					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GGATGCCAGGGGCCGTTTCTG	0.507000													6	22					0	0	0.003080	0	0
RYR3	6263	broad.mit.edu	37	15	34130190	34130190	+	Silent	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:34130190A>G	ENST00000389232.4	+	89	12079	c.12009A>G	c.(12007-12009)gaA>gaG	p.E4003E	RYR3_ENST00000415757.3_Silent_p.E3998E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4003					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)		ATCTTTCTGAACACATGCCAA	0.448000													45	84					0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9082508	9082508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:9082508C>T	ENST00000397910.4	-	1	9510	c.9307G>A	c.(9307-9309)Gaa>Aaa	p.E3103K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3104	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						GTTCCCTCTTCTTCTGCAATG	0.493000													108	38					0	0	0.003610	0	0
EDA2R	60401	broad.mit.edu	37	X	65824906	65824906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:65824906C>T	ENST00000374719.3	-	3	306	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	EDA2R_ENST00000456230.2_Missense_Mutation_p.G84R|EDA2R_ENST00000253392.5_Missense_Mutation_p.G84R|EDA2R_ENST00000396050.1_Missense_Mutation_p.G84R|EDA2R_ENST00000451436.2_Intron|EDA2R_ENST00000450752.1_Missense_Mutation_p.G84R	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	84					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						AAACAGTCCCCACAGACAGCA	0.507000													7	10					0	0	0.003080	0	0
SPTBN1	6711	broad.mit.edu	37	2	54885066	54885066	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:54885066C>T	ENST00000333896.5	+	29	6472	c.6087C>T	c.(6085-6087)agC>agT	p.S2029S	SPTBN1_ENST00000356805.4_Silent_p.S2042S	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2042	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTATCCAGCCGAGAGATAG	0.577000											OREG0014619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	42					0	0	0.004656	0	0
TRPM5	29850	broad.mit.edu	37	11	2436411	2436411	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:2436411G>A	ENST00000452833.1	-	9	1433	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	TRPM5_ENST00000155858.6_Silent_p.F473F|TRPM5_ENST00000533060.1_Silent_p.F473F|TRPM5_ENST00000528453.1_Silent_p.F473F			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	473						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)		CGTCCTGCAGGAAGTCCTTGA	0.751000													12	26					0	0	0.000978	0	0
PROKR2	128674	broad.mit.edu	37	20	5294721	5294721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:5294721C>T	ENST00000546004.1	-	2	541	c.295G>A	c.(295-297)Gac>Aac	p.D99N	PROKR2_ENST00000217270.3_Missense_Mutation_p.D99N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	99						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.D99N(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						ACCAGGAAGTCGGAGATGGCC	0.572000										HNSCC(71;0.22)			27	39					0	0	0.008361	0	0
OTOP3	347741	broad.mit.edu	37	17	72937741	72937741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:72937741G>A	ENST00000328801.4	+	2	327	c.327G>A	c.(325-327)atG>atA	p.M109I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	109						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)					TCTGCAGCATGATCTTCAACA	0.607000													29	44					0	0	0.001786	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039644	36039644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:36039644G>A	ENST00000282507.3	-	5	1111	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	UGT3A2_ENST00000513300.1_Missense_Mutation_p.P303L|UGT3A2_ENST00000545528.1_Missense_Mutation_p.P35L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	337						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)			GACATCTTTGGGCCAATGAGA	0.517000													44	53					0	0	0.003610	0	0
NFASC	23114	broad.mit.edu	37	1	204923977	204923977	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:204923977G>A	ENST00000367172.4	+	7	761	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	NFASC_ENST00000338515.6_Missense_Mutation_p.E145K|NFASC_ENST00000367169.4_Missense_Mutation_p.E145K|NFASC_ENST00000367171.4_Missense_Mutation_p.E145K|NFASC_ENST00000539706.1_Missense_Mutation_p.E139K|NFASC_ENST00000360049.4_Missense_Mutation_p.E139K|NFASC_ENST00000338586.6_Missense_Mutation_p.E145K|NFASC_ENST00000404907.1_Missense_Mutation_p.E139K|NFASC_ENST00000403080.1_Missense_Mutation_p.E145K|NFASC_ENST00000401399.1_Missense_Mutation_p.E145K|NFASC_ENST00000513543.1_Missense_Mutation_p.E139K|NFASC_ENST00000367170.4_Missense_Mutation_p.E145K|NFASC_ENST00000339876.6_Missense_Mutation_p.E145K|NFASC_ENST00000404076.1_Missense_Mutation_p.E139K			O94856	NFASC_HUMAN	neurofascin	145	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTGGCCCAAGGAAAACCTAGA	0.597000													50	101					0	0	0.003610	0	0
RSPO2	340419	broad.mit.edu	37	8	108970342	108970342	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:108970342C>T	ENST00000276659.5	-	5	1202	c.582G>A	c.(580-582)agG>agA	p.R194R	RSPO2_ENST00000517781.1_Silent_p.R130R|RSPO2_ENST00000378439.2_Silent_p.R130R|RSPO2_ENST00000517939.1_Silent_p.R127R	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	194	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding	p.R194R(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			TCTTGCATCTCCTGGATTCAG	0.458000													116	73					0	0	0.003610	0	0
OR1L3	26735	broad.mit.edu	37	9	125437956	125437956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:125437956C>T	ENST00000304820.2	+	1	642	c.548C>T	c.(547-549)cCt>cTt	p.P183L		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GATGTCAACCCTGTGCTGAAA	0.448000													69	94					0	0	0.003610	0	0
TMEM218	219854	broad.mit.edu	37	11	124971120	124971120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:124971120G>A	ENST00000455225.1	-	3	841	c.190C>T	c.(190-192)Cca>Tca	p.P64S	TMEM218_ENST00000532407.1_Missense_Mutation_p.P64S|TMEM218_ENST00000526175.1_Missense_Mutation_p.P64S|TMEM218_ENST00000532156.1_3'UTR|TMEM218_ENST00000531909.1_Missense_Mutation_p.P64S|TMEM218_ENST00000279968.4_Missense_Mutation_p.P64S|TMEM218_ENST00000529609.1_3'UTR|TMEM218_ENST00000529583.1_Missense_Mutation_p.P64S|TMEM218_ENST00000528724.1_Missense_Mutation_p.P90S|TMEM218_ENST00000527271.1_Missense_Mutation_p.P64S|TMEM218_ENST00000527766.1_Missense_Mutation_p.P64S|TMEM218_ENST00000531262.1_5'UTR			A2RU14	TM218_HUMAN	transmembrane protein 218	64						integral to membrane				breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						TCTGGGGCTGGGAATTCACCA	0.453000													9	7					0	0	0.006214	0	0
CCDC27	148870	broad.mit.edu	37	1	3673360	3673360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:3673360C>T	ENST00000294600.2	+	4	701	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	206										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)		AGGAGAAAATCCCAGACTTTG	0.542000													33	42					0	0	0.002836	0	0
NBPF1	55672	broad.mit.edu	37	1	16892178	16892178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:16892178G>A	ENST00000430580.2	-	27	3901	c.3014C>T	c.(3013-3015)tCc>tTc	p.S1005F		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1005	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)		TGCATAAAAGGAACTTCCATA	0.453000													62	1236					0	0	0.004878	0	0
ABO	28	broad.mit.edu	37	9	136131545	136131545	+	RNA	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:136131545C>T	ENST00000453660.2	-	0	583							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGTCACTGATCATCTCCATGC	0.662000													9	5					0	0	0.006214	0	0
TMEM223	79064	broad.mit.edu	37	11	62558255	62558255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:62558255G>A	ENST00000307366.7	-	2	475	c.449C>T	c.(448-450)cCt>cTt	p.P150L	TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	150						integral to membrane											CTGCTTCAAAGGAACTGTGAA	0.567000													6	7					0	0	0.001984	0	0
FIGF	2277	broad.mit.edu	37	X	15365419	15365419	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:15365419A>T	ENST00000297904.3	-	6	1234	c.805T>A	c.(805-807)Tgc>Agc	p.C269S	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	269	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					ACACACTCGCAACGATCTTCG	0.468000													53	60					0	0	0.003610	0	0
DAK	26007	broad.mit.edu	37	11	61105547	61105547	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:61105547G>A	ENST00000394900.3	+	3	367	c.138G>A	c.(136-138)aaG>aaA	p.K46K	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	46	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						ACAGCCTCAAGGGCCGGGTGG	0.672000													31	36					0	0	0.002836	0	0
MIR1261	100302228	broad.mit.edu	37	11	90602358	90602358	+	RNA	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:90602358C>T	ENST00000408659.1	-	0	12					NR_031663.1																						aagccaaagccttatccatag	0.423000													6	10					0	0	0.004482	0	0
CCDC130	81576	broad.mit.edu	37	19	13868275	13868275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:13868275C>T	ENST00000586600.1	+	6	687	c.184C>T	c.(184-186)Cac>Tac	p.H62Y	CCDC130_ENST00000221554.8_Missense_Mutation_p.H62Y			P13994	CC130_HUMAN	coiled-coil domain containing 130	62					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CTGCAAGAACCACATCGGCAT	0.562000													17	9					0	0	0.001523	0	0
CADPS2	93664	broad.mit.edu	37	7	122114563	122114563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:122114563G>A	ENST00000334010.7	-	12	2294	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C	CADPS2_ENST00000449022.2_Missense_Mutation_p.R624C|CADPS2_ENST00000412584.2_Missense_Mutation_p.R621C|CADPS2_ENST00000313070.7_Missense_Mutation_p.R621C	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	624					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTCTGAAAACGATCTGCATCT	0.378000													11	17					0	0	0.008291	0	0
NTRK3	4916	broad.mit.edu	37	15	88476364	88476364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:88476364C>T	ENST00000394480.1	-	16	2089	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K	NTRK3_ENST00000355254.2_Missense_Mutation_p.E590K|NTRK3_ENST00000360948.2_Missense_Mutation_p.E590K|NTRK3_ENST00000558676.1_Missense_Mutation_p.E582K|NTRK3_ENST00000542733.2_Missense_Mutation_p.E492K|NTRK3_ENST00000557856.1_Missense_Mutation_p.E582K|NTRK3_ENST00000357724.2_Missense_Mutation_p.E582K	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	590	Protein kinase.				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)			GTGAGCAGCTCGGCCTCCCTC	0.562000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			30	27					0	0	0.001786	0	0
OR2T33	391195	broad.mit.edu	37	1	248436656	248436656	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:248436656C>T	ENST00000318021.2	-	1	482	c.461G>A	c.(460-462)gGg>gAg	p.G154E		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CTGCAGGAGCCCGTCAGCTGC	0.582000													26	74					0	0	0.006320	0	0
PRODH	5625	broad.mit.edu	37	22	18904434	18904434	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:18904434T>C	ENST00000357068.6	-	12	1760	c.1495A>G	c.(1495-1497)Aat>Gat	p.N499D	PRODH_ENST00000420436.1_Missense_Mutation_p.N391D|PRODH_ENST00000334029.2_Missense_Mutation_p.N391D	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	499					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GTGTCCTCATTGTGGGAGGCC	0.622000													21	25					0	0	0.003330	0	0
CCDC115	84317	broad.mit.edu	37	2	131099732	131099732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:131099732C>T	ENST00000437688.2	-	1	179	c.71G>A	c.(70-72)aGg>aAg	p.R24K	CCDC115_ENST00000409127.1_Missense_Mutation_p.R24K|CCDC115_ENST00000259229.2_5'UTR			Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	0						endosome|lysosome				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					CACCTTCTTCCTTGTCACCCT	0.632000													7	13					0	0	0.001984	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602124	58602124	+	Silent	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:58602124A>G	ENST00000287275.1	-	6	1053	c.663T>C	c.(661-663)tgT>tgC	p.C221C	GLYATL2_ENST00000532258.1_Silent_p.C221C	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	221						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTCTCAACTCACAGGACTGTT	0.433000													22	35					0	0	0.002780	0	0
SCN3A	6328	broad.mit.edu	37	2	166012375	166012375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:166012375C>T	ENST00000360093.3	-	10	1561	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	SCN3A_ENST00000283254.7_Missense_Mutation_p.R357Q|SCN3A_ENST00000409101.3_Missense_Mutation_p.R357Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	357						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)	GTTGGGGTTTCGACCAGCCTT	0.423000													30	59					0	0	0.002096	0	0
PTGES2	80142	broad.mit.edu	37	9	130887690	130887690	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:130887690G>A	ENST00000338961.6	-	2	1054	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	PTGES2_ENST00000483625.1_5'UTR|PTGES2_ENST00000277462.5_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	104	Glutaredoxin.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TACTGGTACAGGGTCAGCTGC	0.647000													15	39					0	0	0.004007	0	0
DGCR8	54487	broad.mit.edu	37	22	20073709	20073709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:20073709C>T	ENST00000351989.3	+	2	652	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	DGCR8_ENST00000383024.2_Missense_Mutation_p.L75F|DGCR8_ENST00000407755.1_Missense_Mutation_p.L75F	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	75	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCTTCTCTTCTCTCCAAAGG	0.597000													20	37					0	0	0.001523	0	0
LRP2BP	55805	broad.mit.edu	37	4	186291813	186291813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:186291813G>A	ENST00000362004.3	-	7	1776	c.965C>T	c.(964-966)gCt>gTt	p.A322V	LRP2BP_ENST00000510776.1_Missense_Mutation_p.A294V|LRP2BP_ENST00000505916.1_Missense_Mutation_p.A320V|LRP2BP_ENST00000328559.7_Missense_Mutation_p.A320V			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	320						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		ATAGTGTTTAGCGGTTGTTTC	0.438000													28	23					0	0	0.008361	0	0
SHROOM2	357	broad.mit.edu	37	X	9905555	9905555	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:9905555C>T	ENST00000380913.3	+	7	4059	c.3969C>T	c.(3967-3969)atC>atT	p.I1323I	SHROOM2_ENST00000418909.2_Silent_p.I158I	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1323	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCAGGGAGATCGTGGGGAAGG	0.562000													31	51					0	0	0.002836	0	0
PCDHA3	56145	broad.mit.edu	37	5	140182352	140182352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:140182352G>A	ENST00000522353.2	+	1	1570	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	PCDHA3_ENST00000532566.2_Missense_Mutation_p.D524N|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCCGCTGGACCACGAGGA	0.682000													57	100					0	0	0.003610	0	0
NUMA1	4926	broad.mit.edu	37	11	71732260	71732260	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:71732260G>A	ENST00000393695.3	-	8	781	c.450C>T	c.(448-450)ttC>ttT	p.F150F	NUMA1_ENST00000358965.6_Silent_p.F150F|NUMA1_ENST00000351960.6_Silent_p.F150F	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	150					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTTTCTGTAGGAAGTTCTCTA	0.468000			T	RARA	APL								18	24					0	0	0.001523	0	0
SLC4A10	57282	broad.mit.edu	37	2	162833301	162833301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:162833301G>A	ENST00000375514.5	+	25	3489	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K	SLC4A10_ENST00000272716.5_Missense_Mutation_p.E1057K|SLC4A10_ENST00000446997.1_Missense_Mutation_p.E1087K|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Missense_Mutation_p.E1057K	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1087					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						TATATCTGATGAAATGTCAAA	0.353000													12	13					0	0	0.003163	0	0
PTPRT	11122	broad.mit.edu	37	20	40864896	40864896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:40864896C>T	ENST00000373198.3	-	16	2607	c.2372G>A	c.(2371-2373)aGa>aAa	p.R791K	PTPRT_ENST00000373187.1_Missense_Mutation_p.R772K|PTPRT_ENST00000373201.1_Intron|PTPRT_ENST00000356100.2_Intron|PTPRT_ENST00000373184.1_Intron|PTPRT_ENST00000373193.3_Missense_Mutation_p.R772K|PTPRT_ENST00000373190.1_Missense_Mutation_p.R772K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	772					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)				ATAAGCATTTCTTCTATATAT	0.368000													31	46					0	0	0.002445	0	0
ZNF229	7772	broad.mit.edu	37	19	44946773	44946773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:44946773C>T	ENST00000291187.4	-	4	389	c.67G>A	c.(67-69)Gat>Aat	p.D23N	ZNF229_ENST00000588931.1_Missense_Mutation_p.D23N|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_5'UTR	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TCCTCCCTATCTTGGGAAATG	0.483000													28	12					0	0	0.006320	0	0
AOC3	8639	broad.mit.edu	37	17	41008367	41008367	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:41008367G>A	ENST00000308423.2	+	4	2252	c.2092G>A	c.(2092-2094)Ggg>Agg	p.G698R	AOC3_ENST00000591562.1_Missense_Mutation_p.G155R	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	698					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTGACTGTGGGGAACGGCGT	0.542000													49	16					0	0	0.003610	0	0
UBE2J1	51465	broad.mit.edu	37	6	90039660	90039660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:90039660G>A	ENST00000435041.2	-	8	973	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	232						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TGCTGCTGAGGAATTCTGGAG	0.433000													23	12					0	0	0.002780	0	0
CIITA	4261	broad.mit.edu	37	16	11000503	11000503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:11000503C>T	ENST00000324288.8	+	11	1287	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	385					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTGGCCACCCCGGACTGGGCA	0.677000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								11	17					0	0	0.000978	0	0
NUP210	23225	broad.mit.edu	37	3	13393592	13393592	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:13393592G>A	ENST00000254508.5	-	19	2803	c.2721C>T	c.(2719-2721)caC>caT	p.H907H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	907					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGATGCCAGGGTGGTTGTAGA	0.627000													22	27					0	0	0.002780	0	0
TP63	8626	broad.mit.edu	37	3	189612137	189612137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:189612137C>T	ENST00000264731.3	+	14	1978	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	TP63_ENST00000320472.5_3'UTR|TP63_ENST00000456148.1_Missense_Mutation_p.S532F|TP63_ENST00000440651.2_Missense_Mutation_p.S626F|TP63_ENST00000449992.1_Missense_Mutation_p.S451F|TP63_ENST00000354600.5_Missense_Mutation_p.S536F|TP63_ENST00000382063.4_Missense_Mutation_p.S545F	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	630	Transactivation inhibition.				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)		AGTGTGGGCTCCAGTGAGACC	0.572000										HNSCC(45;0.13)			43	18					0	0	0.003610	0	0
HOXD10	3236	broad.mit.edu	37	2	176981980	176981980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:176981980C>T	ENST00000249501.4	+	1	674	c.419C>T	c.(418-420)cCc>cTc	p.P140L	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	140						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GAGTCTTGTCCCGTTGAGAAC	0.507000													71	105					0	0	0.003610	0	0
COL2A1	1280	broad.mit.edu	37	12	48372397	48372397	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:48372397C>T	ENST00000380518.3	-	42	3042	c.2878G>A	c.(2878-2880)Gga>Aga	p.G960R	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G891R	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	960	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)	CCGTCATCTCCAGGCTCTCCC	0.652000													21	22					0	0	0.001523	0	0
CYP11A1	1583	broad.mit.edu	37	15	74659681	74659681	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:74659681G>A	ENST00000268053.6	-	1	400	c.246C>T	c.(244-246)ttC>ttT	p.F82F	CYP11A1_ENST00000541301.1_Silent_p.F82F|CYP11A1_ENST00000467407.1_5'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	82					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)	CATACTTCTGGAAATTCTGGA	0.572000													35	50					0	0	0.007835	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34020709	34020709	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:34020709G>A	ENST00000382065.3	-	6	1645	c.939C>T	c.(937-939)ttC>ttT	p.F313F	C1QTNF3_ENST00000231338.7_Silent_p.F240F	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	240						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CAAAGAGCAGGAATCCTGCAA	0.468000													68	81					0	0	0.003610	0	0
HES1	3280	broad.mit.edu	37	3	193854814	193854814	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:193854814A>G	ENST00000232424.3	+	3	505	c.269A>G	c.(268-270)aAc>aGc	p.N90S		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	90	Helix-loop-helix motif.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		CACCTCCGGAACCTGCAGCGG	0.637000													26	44					0	0	0.003954	0	0
TENM3	55714	broad.mit.edu	37	4	183600836	183600836	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:183600836C>T	ENST00000511685.1	+	8	1467	c.1344C>T	c.(1342-1344)ctC>ctT	p.L448L	TENM3_ENST00000406950.2_Silent_p.L448L					teneurin transmembrane protein 3																		TCGTGGAGCTCCTGGATGGCA	0.547000													26	63					0	0	0.007291	0	0
MDGA1	266727	broad.mit.edu	37	6	37606430	37606430	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:37606430G>A	ENST00000434837.2	-	15	3728	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L	MDGA1_ENST00000297153.7_Silent_p.L854L|MDGA1_ENST00000505425.1_Silent_p.L850L	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	850	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ACCGCACCAGGAGGTTGAGGG	0.612000													9	22					0	0	0.006214	0	0
GFRA3	2676	broad.mit.edu	37	5	137593408	137593408	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:137593408G>A	ENST00000274721.3	-	4	951	c.705C>T	c.(703-705)atC>atT	p.I235I	GFRA3_ENST00000378362.3_Silent_p.I204I	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	235					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGTTGGGGGCGATGGTGTTGC	0.697000													18	14					0	0	0.006122	0	0
BRD4	23476	broad.mit.edu	37	19	15350487	15350487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:15350487G>A	ENST00000263377.2	-	16	3649	c.3428C>T	c.(3427-3429)cCc>cTc	p.P1143L		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1143					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)			CAGGTGGACGGGGGCCTTGAT	0.682000			T	C15orf55	lethal midline carcinoma of young people								24	11					0	0	0.003330	0	0
DENND4A	10260	broad.mit.edu	37	15	65982847	65982847	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:65982847A>G	ENST00000443035.3	-	23	4297	c.4082T>C	c.(4081-4083)gTt>gCt	p.V1361A	DENND4A_ENST00000431932.2_Missense_Mutation_p.V1318A|DENND4A_ENST00000567323.1_5'UTR	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTTTCTTAGAACATCTAGTTT	0.383000													26	29					0	0	0.003954	0	0
RP1	6101	broad.mit.edu	37	8	55534779	55534779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:55534779C>T	ENST00000220676.1	+	3	866	c.718C>T	c.(718-720)Cct>Tct	p.P240S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	240					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)			ATACTTGCTTCCTGCTAGATT	0.463000													17	21					0	0	0.004007	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405762	106405762	+	RNA	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:106405762C>T	ENST00000390593.2	-	0	263																											GTATGTCCTTCCCAGCCACTC	0.507000													47	78					0	0	0.003610	0	0
SMYD3	64754	broad.mit.edu	37	1	246091332	246091332	+	Silent	SNP	G	G	A	rs74523188		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:246091332G>A	ENST00000490107.1	-	7	642	c.426C>T	c.(424-426)atC>atT	p.I142I	SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000388985.4_Silent_p.I201I|SMYD3_ENST00000541742.1_Silent_p.I142I	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	201	SET.					cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		TGAGCAAAGAGATACTGGAAA	0.493000													23	34					0	0	0.003954	0	0
ODF3L2	284451	broad.mit.edu	37	19	463968	463968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:463968G>A	ENST00000315489.4	-	4	981	c.746C>T	c.(745-747)aCc>aTc	p.T249I	ODF3L2_ENST00000382696.3_Missense_Mutation_p.T213I	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	249										large_intestine(1)|lung(2)	3						TTTGTTCACGGTGACCTGCTC	0.736000													13	10					0	0	0.003163	0	0
SETBP1	26040	broad.mit.edu	37	18	42643245	42643245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:42643245G>A	ENST00000282030.5	+	6	4669	c.4373G>A	c.(4372-4374)aGg>aAg	p.R1458K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1458						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGGCGTCCCAGGAAGCAGCCC	0.562000									Schinzel-Giedion syndrome				3	8					0	0	0.004672	0	0
DCLK3	85443	broad.mit.edu	37	3	36763055	36763055	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:36763055G>A	ENST00000416516.2	-	3	2038	c.1548C>T	c.(1546-1548)acC>acT	p.T516T	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	516	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CGTAAGTTGGGGTCCCACACA	0.413000													31	82					0	0	0.002096	0	0
TTC18	118491	broad.mit.edu	37	10	75104891	75104891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:75104891C>T	ENST00000310715.3	-	6	661	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	TTC18_ENST00000340329.3_Missense_Mutation_p.E181K|TTC18_ENST00000401621.2_Missense_Mutation_p.E181K|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.E181K|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	181							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ATGAAGGATTCAGGCACAGAG	0.483000													61	32					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13900349	13900349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:13900349C>T	ENST00000265104.4	-	15	2329	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	742	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)					GTATCTATCTCGTTTCTGGAA	0.388000									Kartagener syndrome				17	35					0	0	0.006122	0	0
ASH1L	55870	broad.mit.edu	37	1	155313129	155313129	+	Silent	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:155313129A>G	ENST00000368346.3	-	24	8923	c.8284T>C	c.(8284-8286)Ttg>Ctg	p.L2762L	ASH1L_ENST00000392403.3_Silent_p.L2757L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2762	BAH.				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)			TAAAGGTCCAACACACAGCAG	0.493000													31	41					0	0	0.008361	0	0
MGAM	8972	broad.mit.edu	37	7	141755883	141755883	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141755883C>T	ENST00000475668.2	+	29	3621	c.3567C>T	c.(3565-3567)aaC>aaT	p.N1189N	MGAM_ENST00000549489.2_Silent_p.N1189N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1189	Glucoamylase.				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)	TCCTGCTGAACAGCAATGCCA	0.512000													12	22					0	0	0.000978	0	0
CNTN5	53942	broad.mit.edu	37	11	99932090	99932090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:99932090G>A	ENST00000524871.1	+	10	1417	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	CNTN5_ENST00000279463.3_Missense_Mutation_p.G376E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G302E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G376E|CNTN5_ENST00000527185.1_Missense_Mutation_p.G376E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	376	Ig-like C2-type 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)		AACTCACGTGGAAAAAATTCC	0.423000													13	29					0	0	0.001368	0	0
CSTF1	1477	broad.mit.edu	37	20	54974330	54974330	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:54974330C>T	ENST00000217109.4	+	5	1305	c.953C>T	c.(952-954)tCt>tTt	p.S318F	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	318					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TCCAAAAATTCTAAATACATT	0.393000													26	42					0	0	0.003330	0	0
RELN	5649	broad.mit.edu	37	7	103155840	103155840	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:103155840G>A	ENST00000424685.2	-	50	8070	c.7911C>T	c.(7909-7911)cgC>cgT	p.R2637R	RELN_ENST00000343529.5_Silent_p.R2637R|RELN_ENST00000428762.1_Silent_p.R2637R			P78509	RELN_HUMAN	reelin	2637					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)		ACCAGCGGAAGCGAGTGGCAA	0.502000													13	30					0	0	0.001368	0	0
SH3RF2	153769	broad.mit.edu	37	5	145435759	145435759	+	Missense_Mutation	SNP	G	G	A	rs141349885	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:145435759G>A	ENST00000511217.1	+	7	1590	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R513Q|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	513							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.R513Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGAAAGGGCGGAGCAGCATG	0.552000													26	53					0	0	0.006320	0	0
FOXK1	221937	broad.mit.edu	37	7	4780639	4780639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:4780639C>T	ENST00000328914.4	+	2	731	c.731C>T	c.(730-732)cCg>cTg	p.P244L	FOXK1_ENST00000446823.1_Missense_Mutation_p.P81L	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	244					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			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)		GTCCCCTCCCCGACGGGCACC	0.697000													11	26					0	0	0.000978	0	0
DDX60L	91351	broad.mit.edu	37	4	169377257	169377257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:169377257G>A	ENST00000511577.1	-	7	1017	c.770C>T	c.(769-771)tCg>tTg	p.S257L	DDX60L_ENST00000260184.7_Missense_Mutation_p.S257L|DDX60L_ENST00000505890.1_Missense_Mutation_p.S257L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	257							ATP binding|ATP-dependent helicase activity|RNA binding	p.S257*(1)		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)		CTGGATGTCCGATCCTTCTGA	0.383000													12	13					0	0	0.003163	0	0
ZNF726	730087	broad.mit.edu	37	19	24102252	24102252	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:24102252T>A	ENST00000594466.1	+	2	186	c.81T>A	c.(79-81)aaT>aaA	p.N27K	CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000525354.2_Missense_Mutation_p.N27K|ZNF726_ENST00000322487.7_Missense_Mutation_p.N27K|ZNF726_ENST00000334589.5_Missense_Mutation_p.N27K|ZNF726_ENST00000531821.2_Missense_Mutation_p.N27K|ZNF726_ENST00000575986.1_Missense_Mutation_p.N27K	NM_001244038.1	NP_001230967.1	E9PLI7	E9PLI7_HUMAN	zinc finger protein 726	27					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										CACAGAAGAATTTATATAGGA	0.383000													23	15					0	0	0.003954	0	0
FBXW11	23291	broad.mit.edu	37	5	171295671	171295671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:171295671G>A	ENST00000296933.6	-	12	1928	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	FBXW11_ENST00000393802.2_Missense_Mutation_p.P499S|FBXW11_ENST00000425623.2_Missense_Mutation_p.P501S|FBXW11_ENST00000265094.5_Missense_Mutation_p.P533S	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	533					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTTCTGGAGGGAGAACGGGTC	0.438000													41	76					0	0	0.002522	0	0
COL9A1	1297	broad.mit.edu	37	6	70976452	70976452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:70976452C>T	ENST00000357250.6	-	18	1467	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	COL9A1_ENST00000320755.7_Missense_Mutation_p.E194K|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.E194K	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	437	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						TCACCAATTTCTCCTTTAGCC	0.368000													54	91					0	0	0.003610	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748891	43748891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:43748891G>A	ENST00000263801.3	-	12	2152	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.R639*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.R639*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.R639*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	634					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCCTCAGATCGAGTAGCTGGT	0.483000								Other conserved DNA damage response genes					40	56					0	0	0.006230	0	0
LRIG1	26018	broad.mit.edu	37	3	66502043	66502043	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:66502043T>A	ENST00000383703.3	-	3	908	c.305A>T	c.(304-306)aAt>aTt	p.N102I	LRIG1_ENST00000273261.3_Missense_Mutation_p.N102I			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	102						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)		TGTCAACTCATTATTATTGAG	0.438000													38	303					0	0	0.005524	0	0
OR5M10	390167	broad.mit.edu	37	11	56344610	56344610	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:56344610C>T	ENST00000526812.2	-	1	653	c.588G>A	c.(586-588)aaG>aaA	p.K196K		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ACATTGCCATCTTTTTGACAC	0.443000													15	38					0	0	0.007413	0	0
FAH	2184	broad.mit.edu	37	15	80460457	80460457	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:80460457C>T	ENST00000539156.1	+	5	2547	c.309C>T	c.(307-309)atC>atT	p.I103I	FAH_ENST00000261755.5_Silent_p.I173I|FAH_ENST00000561421.1_Silent_p.I173I|FAH_ENST00000558627.1_3'UTR|FAH_ENST00000407106.1_Silent_p.I173I			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	173					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCACCCCAATCCGAAGGCCCA	0.577000									Tyrosinemia, type 1				14	36					0	0	0.003163	0	0
AKR7A2	8574	broad.mit.edu	37	1	19630750	19630750	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:19630750A>G	ENST00000235835.3	-	7	1070	c.1049T>C	c.(1048-1050)gTt>gCt	p.V350A		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	350					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTCGTGAGCAACCAAATGCCA	0.552000													30	34					0	0	0.002096	0	0
RIMBP2	23504	broad.mit.edu	37	12	130892274	130892274	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:130892274G>A	ENST00000261655.4	-	16	3085	c.2922C>T	c.(2920-2922)gtC>gtT	p.V974V		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	974	SH3 3.					cell junction|synapse		p.V974V(2)		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)		CTGGTACCTCGACATCGACGT	0.567000													103	142					0	0	0.003610	0	0
GCSAML	148823	broad.mit.edu	37	1	247712378	247712378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:247712378G>A	ENST00000366490.3	+	4	405	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_3'UTR|GCSAML_ENST00000527541.1_Intron					germinal center-associated, signaling and motility-like																		GCAAGAGCACGAACCCGTGGT	0.547000													6	6					0	0	0.001168	0	0
USP42	84132	broad.mit.edu	37	7	6187442	6187442	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:6187442C>T	ENST00000306177.5	+	12	1463	c.1305C>T	c.(1303-1305)ccC>ccT	p.P435P		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	435					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		CTCCCCGCCCCGTCATCAGTC	0.542000													39	40					0	0	0.006230	0	0
OR52M1	119772	broad.mit.edu	37	11	4566873	4566873	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:4566873C>T	ENST00000360213.1	+	1	453	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTTTCTCTCCTCCGGGGTG	0.527000													33	37					0	0	0.003271	0	0
IGLJ5	28829	broad.mit.edu	37	22	23256459	23256459	+	RNA	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:23256459G>A	ENST00000390327.2	+	0	52																											GTTTGGTGAGGGGACGGAGCT	0.542000													28	37					0	0	0.006320	0	0
OR5V1	81696	broad.mit.edu	37	6	29323094	29323094	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:29323094C>T	ENST00000377154.1	-	4	1178	c.879G>A	c.(877-879)agG>agA	p.R293R	OR5V1_ENST00000543825.1_Silent_p.R293R			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293R(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCCTTATTCCTCAATGTGT	0.403000													50	46					0	0	0.003610	0	0
PECR	55825	broad.mit.edu	37	2	216914081	216914081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:216914081G>A	ENST00000265322.7	-	6	693	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	207					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	ACAGCAGTCTGGGAATAAATA	0.358000													48	59					0	0	0.003610	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776484	159776484	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:159776484G>A	ENST00000393975.3	-	3	687	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	183	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTGCCGCTGGAAGCATTGT	0.587000													32	60					0	0	0.001786	0	0
DVL3	1857	broad.mit.edu	37	3	183884653	183884653	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:183884653C>T	ENST00000313143.3	+	11	1336	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F	DVL3_ENST00000431765.1_Intron|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	363					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCCTGGGTCTCCCACACTGCA	0.647000													24	42					0	0	0.003954	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886232	9886232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:9886232G>A	ENST00000306084.6	+	1	260	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	TXNDC2_ENST00000584255.1_Intron|TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000426718.3_Missense_Mutation_p.E21K|TXNDC2_ENST00000357775.4_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	21					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						TGGAAAACCAGAAATGAGGCT	0.468000													37	44					0	0	0.005524	0	0
FAM183B	340286	broad.mit.edu	37	7	38725520	38725520	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:38725520C>T	ENST00000409072.3	-	2	1020	c.86G>A	c.(85-87)cGa>cAa	p.R29Q						family with sequence similarity 183, member B									p.R29Q(4)		endometrium(1)|lung(7)	8						TTTCTGGGTTCGTAACTCTTT	0.542000													27	56					0	0	0.006320	0	0
NOBOX	135935	broad.mit.edu	37	7	144096917	144096917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:144096917C>T	ENST00000467773.1	-	6	1086	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	NOBOX_ENST00000483238.1_Missense_Mutation_p.E331K|NOBOX_ENST00000223140.5_Missense_Mutation_p.E246K	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	363					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTCAGTTTCTCCATTTTTCGC	0.532000													15	16					0	0	0.007413	0	0
TRAV17	28666	broad.mit.edu	37	14	22466140	22466140	+	RNA	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:22466140G>A	ENST00000390445.2	+	0	217																											CAGTCAACAGGGAGAAGAGGA	0.428000													10	14					0	0	0.006214	0	0
YY2	404281	broad.mit.edu	37	X	21875139	21875139	+	Silent	SNP	G	G	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:21875139G>T	ENST00000429584.2	+	1	1035	c.537G>T	c.(535-537)ctG>ctT	p.L179L	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TCAAAACGCTGGAGGGTGAGT	0.577000													63	109					5.00936e-31	5.93574e-31	0.003610	1	0
AP3B1	8546	broad.mit.edu	37	5	77334866	77334866	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:77334866C>T	ENST00000255194.6	-	23	2985		c.e23+1		AP3B1_ENST00000523204.1_Splice_Site|AP3B1_ENST00000519295.1_Splice_Site	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit						endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TTAATATTTACCTATTGGATT	0.249000									Hermansky-Pudlak syndrome				10	16					0	0	0.006214	0	0
EYS	346007	broad.mit.edu	37	6	66054027	66054027	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:66054027G>A	ENST00000503581.1	-	10	2040	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	EYS_ENST00000393380.2_Silent_p.F501F|EYS_ENST00000370616.2_Silent_p.F501F|EYS_ENST00000370618.3_Silent_p.F501F|EYS_ENST00000370621.3_Silent_p.F501F|EYS_ENST00000342421.5_Silent_p.F501F	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	501					response to stimulus|visual perception	extracellular region	calcium ion binding			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						CAGCCAGAAAGAAATAGGCAT	0.353000													16	22					0	0	0.004990	0	0
ZNF407	55628	broad.mit.edu	37	18	72346877	72346877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:72346877C>T	ENST00000299687.5	+	1	3902	c.3902C>T	c.(3901-3903)cCc>cTc	p.P1301L	ZNF407_ENST00000309902.6_Missense_Mutation_p.P1301L|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1301L|ZNF407_ENST00000577538.1_Missense_Mutation_p.P1301L	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAAGAAGATCCCGTTCTGGGG	0.448000													8	18					0	0	0.003080	0	0
ADH6	130	broad.mit.edu	37	4	100131307	100131307	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:100131307G>A	ENST00000394897.1	-	5	581	c.499C>T	c.(499-501)Cta>Tta	p.L167L	ADH6_ENST00000394899.2_Silent_p.L167L|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000237653.7_Silent_p.L167L|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000504257.1_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	167					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACTTTCTCTAGAGGAGCGACT	0.428000													44	63					0	0	0.003610	0	0
ITGA7	3679	broad.mit.edu	37	12	56088425	56088425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:56088425C>T	ENST00000257880.7	-	17	2602	c.2383G>A	c.(2383-2385)Ggg>Agg	p.G795R	ITGA7_ENST00000452168.2_Missense_Mutation_p.G658R|ITGA7_ENST00000394230.2_Missense_Mutation_p.G755R|ITGA7_ENST00000347027.6_Missense_Mutation_p.G745R|ITGA7_ENST00000553804.1_Missense_Mutation_p.G755R|ITGA7_ENST00000257879.6_Missense_Mutation_p.G751R|ITGA7_ENST00000394229.2_Missense_Mutation_p.G751R|ITGA7_ENST00000555728.1_Missense_Mutation_p.G795R			Q13683	ITA7_HUMAN	integrin, alpha 7	795					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATGGGGTTCCCCAGCTCACAC	0.562000													38	42					0	0	0.006230	0	0
PHACTR3	116154	broad.mit.edu	37	20	58416569	58416569	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:58416569G>A	ENST00000371015.1	+	11	2033	c.1566G>A	c.(1564-1566)acG>acA	p.T522T	PHACTR3_ENST00000355648.4_Silent_p.T481T|PHACTR3_ENST00000395639.4_Silent_p.T411T|PHACTR3_ENST00000359926.3_Silent_p.T519T|PHACTR3_ENST00000395636.2_Silent_p.T481T|PHACTR3_ENST00000361300.4_Silent_p.T411T|PHACTR3_ENST00000541461.1_Silent_p.T481T	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	522						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AACCCTGGACGAGACTGTCAG	0.443000													20	13					0	0	0.001882	0	0
ADAM22	53616	broad.mit.edu	37	7	87795214	87795214	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:87795214T>C	ENST00000398204.4	+	24	2467	c.2144T>C	c.(2143-2145)tTc>tCc	p.F715S	ADAM22_ENST00000398201.4_Missense_Mutation_p.F715S|ADAM22_ENST00000398209.3_Missense_Mutation_p.F715S|ADAM22_ENST00000265727.7_Missense_Mutation_p.F715S|ADAM22_ENST00000315984.7_Missense_Mutation_p.F715S	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	715					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			AACACTTACTTCCCTCACAAT	0.383000													33	41					0	0	0.003755	0	0
AKAP4	8852	broad.mit.edu	37	X	49957272	49957272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:49957272C>T	ENST00000376056.2	-	5	2215	c.2065G>A	c.(2065-2067)Gat>Aat	p.D689N	AKAP4_ENST00000376064.3_Missense_Mutation_p.D689N|AKAP4_ENST00000358526.2_Missense_Mutation_p.D698N|AKAP4_ENST00000376058.2_Missense_Mutation_p.D315N|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	698					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACTAGTTTATCTATAAATTGC	0.473000													22	41					0	0	0.001523	0	0
CFHR4	10877	broad.mit.edu	37	1	196883788	196883788	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:196883788C>T	ENST00000367416.2	+	8	1478	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	CFHR4_ENST00000367418.1_Silent_p.F201F|CFHR4_ENST00000251424.4_Silent_p.F201F|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						GGTCCCATTTCCCAACATGTT	0.333000													4	24					0	0	0.000248	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858710	9858710	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:9858710G>A	ENST00000396573.2	-	14	3000	c.2691C>T	c.(2689-2691)ctC>ctT	p.L897L	GRIN2A_ENST00000330684.3_Silent_p.L897L|GRIN2A_ENST00000396575.2_Silent_p.L897L|GRIN2A_ENST00000404927.2_Silent_p.L897L|GRIN2A_ENST00000535259.1_Silent_p.L740L|GRIN2A_ENST00000562109.1_Silent_p.L897L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	897					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)	CTGACCGGAGGAGTTTTAACA	0.463000													55	97					0	0	0.003610	0	0
OR8U1	219417	broad.mit.edu	37	11	56144011	56144011	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:56144011C>T	ENST00000302270.1	+	1	912	c.912C>T	c.(910-912)atC>atT	p.I304I		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGAAGAAAATCATTATCAATA	0.333000													39	72					0	0	0.006230	0	0
CACNA1S	779	broad.mit.edu	37	1	201039427	201039427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:201039427G>A	ENST00000362061.3	-	17	2559	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F	CACNA1S_ENST00000367338.3_Missense_Mutation_p.S778F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	778					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.S778C(1)		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)	GATGAAGAAGGAGCTGGCTTC	0.592000													40	59					0	0	0.005524	0	0
KRT72	140807	broad.mit.edu	37	12	52979799	52979799	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:52979799C>T	ENST00000293745.2	-	9	1588	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	KRT72_ENST00000354310.4_Silent_p.G459G|KRT72_ENST00000537672.2_Silent_p.G501G|KRT72_ENST00000398066.3_Silent_p.G313G	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	501	Tail.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CACAGCTGCTCCCCGAGGTTT	0.562000													72	98					0	0	0.003610	0	0
ZNF496	84838	broad.mit.edu	37	1	247464520	247464520	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:247464520G>A	ENST00000294753.4	-	9	1529	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.I391I	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	355					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGAGAGAACGATCTCGATGG	0.627000													22	45					0	0	0.001882	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926571	22926571	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:22926571C>T	ENST00000261374.3	+	2	1226	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	264						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TGCAGTACTTCCCGCTAGCTC	0.607000													43	83					0	0	0.003610	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146246	70146246	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:70146246C>T	ENST00000335568.5	+	1	30	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	UGT2B28_ENST00000511240.1_Silent_p.L10L	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	10					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTCAGTTCTTCTGCTGATACA	0.413000													51	66					0	0	0.003610	0	0
MSX2	4488	broad.mit.edu	37	5	174152000	174152000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:174152000C>T	ENST00000239243.6	+	1	465	c.338C>T	c.(337-339)gCg>gTg	p.A113V	MSX2_ENST00000507785.1_Missense_Mutation_p.A113V	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	113					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAAGATGGAGCGGCGTGGATG	0.692000													14	23					0	0	0.004007	0	0
ARNTL2	56938	broad.mit.edu	37	12	27573413	27573413	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:27573413A>G	ENST00000544915.1	+	16	1976	c.1757A>G	c.(1756-1758)gAg>gGg	p.E586G	ARNTL2_ENST00000542388.1_Missense_Mutation_p.E535G|ARNTL2_ENST00000266503.5_Missense_Mutation_p.E620G|ARNTL2_ENST00000261178.5_Missense_Mutation_p.E572G|ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000395901.2_Missense_Mutation_p.E583G|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Missense_Mutation_p.E606G	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	620					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					TTAGAAGCAGAGGGGGGCCTG	0.428000													39	46					0	0	0.008740	0	0
ZNF91	7644	broad.mit.edu	37	19	23542934	23542934	+	Silent	SNP	T	T	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:23542934T>C	ENST00000300619.7	-	4	3052	c.2847A>G	c.(2845-2847)caA>caG	p.Q949Q	ZNF91_ENST00000397082.2_Silent_p.Q917Q|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	949						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGGTTGAGGATTGGCTAAAAG	0.403000													18	9					0	0	0.001523	0	0
MOSPD2	158747	broad.mit.edu	37	X	14936887	14936887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:14936887G>A	ENST00000380492.3	+	14	1490	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.E468K	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	468						integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TAAAACCAGTGAAGATATATG	0.323000													19	27					0	0	0.001216	0	0
TTN	7273	broad.mit.edu	37	2	179569693	179569693	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:179569693C>T	ENST00000589042.1	-	104	29829	c.29604_splice	c.e104-1	p.E9869_splice	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.E9552_splice|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site_p.E8625_splice	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9552	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)			TCCTCAATTTCCTGAGAAGAA	0.373000													53	72					0	0	0.003610	0	0
NUP210	23225	broad.mit.edu	37	3	13393591	13393591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:13393591G>A	ENST00000254508.5	-	19	2804	c.2722C>T	c.(2722-2724)Cct>Tct	p.P908S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	908					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGATGCCAGGGTGGTTGTAG	0.632000													23	26					0	0	0.003330	0	0
FAM65C	140876	broad.mit.edu	37	20	49225065	49225065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:49225065C>T	ENST00000327979.2	-	11	1216	c.805G>A	c.(805-807)Gag>Aag	p.E269K	FAM65C_ENST00000045083.2_Missense_Mutation_p.E269K|FAM65C_ENST00000535356.1_Missense_Mutation_p.E273K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	269										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCGCAACTCCGTCACCTGG	0.682000													35	66					0	0	0.003271	0	0
USP42	84132	broad.mit.edu	37	7	6187441	6187441	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:6187441C>T	ENST00000306177.5	+	12	1462	c.1304C>T	c.(1303-1305)cCc>cTc	p.P435L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	435					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCTCCCCGCCCCGTCATCAGT	0.542000													40	40					0	0	0.007835	0	0
FASLG	356	broad.mit.edu	37	1	172634809	172634809	+	Missense_Mutation	SNP	G	G	A	rs80358236		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:172634809G>A	ENST00000367721.2	+	4	683	c.499G>A	c.(499-501)Gga>Aga	p.G167R	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	167					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						AGACACCTATGGAATTGTCCT	0.433000													21	42					0	0	0.001882	0	0
USP28	57646	broad.mit.edu	37	11	113673928	113673928	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:113673928C>T	ENST00000003302.4	-	23	2882	c.2814G>A	c.(2812-2814)cgG>cgA	p.R938R	USP28_ENST00000544967.1_Silent_p.R614R|USP28_ENST00000260188.5_Silent_p.R906R|USP28_ENST00000545540.1_Silent_p.R781R	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	938					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTTGACCCCCCGGCGGGGCC	0.463000													57	18					0	0	0.003610	0	0
XPO4	64328	broad.mit.edu	37	13	21375002	21375002	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:21375002A>G	ENST00000400602.2	-	14	1980	c.1945T>C	c.(1945-1947)Tat>Cat	p.Y649H	XPO4_ENST00000255305.6_Missense_Mutation_p.Y649H	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	649					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		ACCAGGAGATAAGTCTTTGCC	0.368000													57	78					0	0	0.003610	0	0
LRRCC1	85444	broad.mit.edu	37	8	86043995	86043995	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:86043995G>A	ENST00000414626.2	+	11	2596	c.1706_splice	c.e11-1	p.R569_splice	LRRCC1_ENST00000360375.3_Splice_Site_p.R589_splice			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	589					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCACTCCAGGAAGGAACTTG	0.328000													16	10					0	0	0.004990	0	0
ANKS6	203286	broad.mit.edu	37	9	101552822	101552822	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:101552822C>T	ENST00000353234.4	-	2	473	c.426G>A	c.(424-426)cgG>cgA	p.R142R	ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000540940.1_5'UTR|ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000375018.1_Silent_p.R142R			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	142										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGGCCCCCAGCCGGTTCTGGG	0.592000													9	13					0	0	0.004482	0	0
RBM11	54033	broad.mit.edu	37	21	15599451	15599451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr21:15599451C>T	ENST00000400577.3	+	5	692	c.683C>T	c.(682-684)tCa>tTa	p.S228L	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	228							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GGACCCAGCTCATATAAATGG	0.428000													90	41					0	0	0.003610	0	0
NDUFA12	55967	broad.mit.edu	37	12	95397502	95397502	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:95397502C>T	ENST00000327772.2	-	0	44					NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12						respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	GCAAAACCCACCGGATGGAAG	0.667000													18	17					0	0	0.006122	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62631971	62631971	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:62631971G>A	ENST00000337910.5	-	10	2230	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Silent_p.F631F	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	631					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TTTCCTTACGGAACTTGGAGC	0.483000													47	22					0	0	0.003610	0	0
CELA3A	10136	broad.mit.edu	37	1	22329525	22329525	+	Missense_Mutation	SNP	T	T	C	rs7533776	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:22329525T>C	ENST00000290122.3	+	2	92	c.73T>C	c.(73-75)Tct>Cct	p.S25P	CELA3A_ENST00000374663.1_Missense_Mutation_p.S25P	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTCCTCTCACTCTTCCAGCCG	0.612000													3	44					0	0	0.001168	0	0
SSPO	23145	broad.mit.edu	37	7	149492356	149492356	+	RNA	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:149492356C>T	ENST00000378016.2	+	0	6245							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)			CTGCATGCATCGTCCCAGCAG	0.672000													63	31					0	0	0.003610	0	0
TARBP2	6895	broad.mit.edu	37	12	53895946	53895946	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:53895946C>T	ENST00000266987.2	+	2	684	c.201C>T	c.(199-201)acC>acT	p.T67T	TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000549028.1_3'UTR|TARBP2_ENST00000456234.2_Silent_p.T46T|TARBP2_ENST00000394357.2_Silent_p.T46T	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	67	DRBM 1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						TCCGGGTCACCGTTGGCGACA	0.572000													13	23					0	0	0.002450	0	0
AGO2	27161	broad.mit.edu	37	8	141542581	141542581	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:141542581G>C	ENST00000220592.5	-	18	2517	c.2405C>G	c.(2404-2406)cCa>cGa	p.P802R	AGO2_ENST00000519980.1_Missense_Mutation_p.P768R	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GTAGTATGCTGGCGCTGGGAT	0.592000													22	23					0	0	0.002299	0	0
HRG	3273	broad.mit.edu	37	3	186390585	186390585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:186390585G>A	ENST00000232003.4	+	5	648	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	190	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GAGAGGAGGGGAAGGAACTGG	0.413000													21	30					0	0	0.002780	0	0
MXRA5	25878	broad.mit.edu	37	X	3238808	3238808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:3238808G>A	ENST00000217939.6	-	5	5072	c.4918C>T	c.(4918-4920)Cgt>Tgt	p.R1640C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1640						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)				GTCCAGTGACGAGGTGACTGG	0.463000													90	119					0	0	0.003610	0	0
TRIM8	81603	broad.mit.edu	37	10	104416969	104416969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:104416969C>T	ENST00000302424.6	+	6	1636	c.1514C>T	c.(1513-1515)cCg>cTg	p.P505L		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	505						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TACTCACACCCGCTCCCGCCC	0.662000													20	7					0	0	0.001216	0	0
OR13C5	138799	broad.mit.edu	37	9	107361003	107361003	+	Missense_Mutation	SNP	G	G	A	rs75216399	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:107361003G>A	ENST00000374779.2	-	1	785	c.692C>T	c.(691-693)tCg>tTg	p.S231L		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S231L(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCTCCCCTCCGAAGAGCTAAT	0.423000													35	56					0	0	0.007835	0	0
TANC2	26115	broad.mit.edu	37	17	61498089	61498089	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:61498089C>T	ENST00000424789.2	+	25	4750	c.4746C>T	c.(4744-4746)tcC>tcT	p.S1582S	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.S1592S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1582							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCCATTATCCAAAATGGCCC	0.547000													20	29					0	0	0.001216	0	0
ATF6B	1388	broad.mit.edu	37	6	32083621	32083621	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:32083621C>T	ENST00000375201.4	-	18	2043	c.1998G>A	c.(1996-1998)caG>caA	p.Q666Q	ATF6B_ENST00000375203.3_Silent_p.Q669Q			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	669					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TTGGGGATGGCTGTTTTCGGA	0.612000													199	305					0	0	0.003610	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212662	26212662	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:26212662C>T	ENST00000379034.1	+	2	848	c.699C>T	c.(697-699)ttC>ttT	p.F233F		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	233	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGCCCTACTTCCCTCAGATCC	0.498000													28	48					0	0	0.005443	0	0
C9orf172	389813	broad.mit.edu	37	9	139739813	139739813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:139739813C>T	ENST00000436881.1	+	1	947	c.947C>T	c.(946-948)tCg>tTg	p.S316L		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	316	Pro-rich.									endometrium(2)|large_intestine(1)|lung(6)	9						GAGGAGCTCTCGGGGCCCAGT	0.657000													24	27					0	0	0.007291	0	0
LPIN1	23175	broad.mit.edu	37	2	11944620	11944620	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:11944620C>T	ENST00000256720.2	+	15	2070	c.1977C>T	c.(1975-1977)tgC>tgT	p.C659C	LPIN1_ENST00000396097.1_Silent_p.C389C|LPIN1_ENST00000425416.2_Silent_p.C665C|LPIN1_ENST00000404113.2_Silent_p.C160C|LPIN1_ENST00000449576.2_Silent_p.C744C|LPIN1_ENST00000396099.1_Silent_p.C701C	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	659	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAGGCACGTGCCGCTGTGAGG	0.473000													31	36					0	0	0.002096	0	0
NOP2	4839	broad.mit.edu	37	12	6669270	6669270	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:6669270G>T	ENST00000541778.1	-	15	2259	c.1771C>A	c.(1771-1773)Cag>Aag	p.Q591K	NOP2_ENST00000399466.2_Missense_Mutation_p.Q591K|NOP2_ENST00000322166.5_Missense_Mutation_p.Q595K|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000382421.3_Missense_Mutation_p.Q628K|NOP2_ENST00000537442.1_Missense_Mutation_p.Q595K|NOP2_ENST00000545200.1_Missense_Mutation_p.Q591K			P46087	NOP2_HUMAN	NOP2 nucleolar protein	595					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTACCTGTCTGGGACTGAGGG	0.453000													26	24					7.92952e-12	9.31091e-12	0.003954	1	0
SRCRB4D	136853	broad.mit.edu	37	7	76019609	76019609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:76019609C>T	ENST00000275560.3	-	11	1842	c.1495G>A	c.(1495-1497)Gat>Aat	p.D499N	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	499	SRCR 4.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CAAGCATCATCACAGACAGTG	0.677000													21	23					0	0	0.001882	0	0
GZMA	3001	broad.mit.edu	37	5	54403726	54403726	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:54403726A>G	ENST00000274306.6	+	3	355	c.320A>G	c.(319-321)gAc>gGc	p.D107G		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	107	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)				CCATGCTATGACCCAGCCACA	0.448000													28	39					0	0	0.002096	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493196	173493196	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:173493196G>T	ENST00000367714.3	-	21	2974	c.2552C>A	c.(2551-2553)cCa>cAa	p.P851Q	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	851					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GATTGCCTTTGGAAAGTTATT	0.363000													16	25					3.52763e-06	4.0867e-06	0.004990	1	0
GPR98	84059	broad.mit.edu	37	5	90016858	90016858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:90016858G>A	ENST00000405460.2	+	45	9826	c.9730G>A	c.(9730-9732)Gaa>Aaa	p.E3244K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3244					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)		GACAGTATCTGAAACAGCCTT	0.348000													35	59					0	0	0.002445	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751403	26751403	+	Silent	SNP	C	C	T	rs149543241		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:26751403C>T	ENST00000396641.2	+	2	832	c.240C>T	c.(238-240)ccC>ccT	p.P80P	LRRC3B_ENST00000456208.2_Silent_p.P80P|LRRC3B_ENST00000417744.1_Silent_p.P80P	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	80						integral to membrane		p.P80P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CATCTATTCCCAATGAAATTT	0.403000													23	33					0	0	0.002780	0	0
MGAM	8972	broad.mit.edu	37	7	141756713	141756713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141756713C>T	ENST00000475668.2	+	30	3718	c.3664C>T	c.(3664-3666)Cca>Tca	p.P1222S	MGAM_ENST00000549489.2_Missense_Mutation_p.P1222S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1222	Glucoamylase.				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)	GGGGCCGACTCCAGAGCTTGT	0.483000													12	37					0	0	0.001855	0	0
NTNG2	84628	broad.mit.edu	37	9	135102365	135102365	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:135102365G>A	ENST00000393229.3	+	4	1763	c.987G>A	c.(985-987)cgG>cgA	p.R329R	NTNG2_ENST00000393228.4_Silent_p.R329R|NTNG2_ENST00000360670.3_Silent_p.R329R|NTNG2_ENST00000372179.3_Silent_p.R329R	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	329	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGTCCTGGCGGGCCGGCTCCT	0.677000													4	15					0	0	0.000248	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392054	1392054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:1392054G>A	ENST00000324385.5	+	10	1107	c.949G>A	c.(949-951)Ggc>Agc	p.G317S	BAIAP3_ENST00000426824.3_Missense_Mutation_p.G282S|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G254S|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G282S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G299S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.G299S|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G259S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	317	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.G317C(1)		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)				CGGCCTGAAGGGCATGGGCAG	0.617000													17	25					0	0	0.007413	0	0
IL2RB	3560	broad.mit.edu	37	22	37524824	37524824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:37524824G>A	ENST00000216223.5	-	10	1166	c.968C>T	c.(967-969)tCg>tTg	p.S323L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	323					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)	TTCTAGTGGCGAGATCTCAGG	0.632000													19	29					0	0	0.001523	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105883861	105883861	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:105883861G>A	ENST00000393359.2	-	12	2988	c.2562C>T	c.(2560-2562)tcC>tcT	p.S854S	TGFBRAP1_ENST00000258449.1_Silent_p.S854S			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	854					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGCCAGGACTGGATGAGCTGG	0.542000													32	50					0	0	0.002445	0	0
SNTA1	6640	broad.mit.edu	37	20	32000165	32000165	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:32000165G>A	ENST00000217381.2	-	5	1248	c.977C>T	c.(976-978)tCt>tTt	p.S326F		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	326	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CTCGGGGAGAGACAAGTAGAG	0.637000													10	14					0	0	0.008291	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128873232	128873232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:128873232C>T	ENST00000371106.3	+	1	235	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.L15F	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	15					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GCTGGTCCTCCTCTGTGGTAT	0.637000													40	22					0	0	0.002852	0	0
OR4K1	79544	broad.mit.edu	37	14	20404348	20404348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:20404348G>A	ENST00000285600.4	+	1	582	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	175					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)		CAATGAGGTGGATAGCTTCTT	0.453000													43	159					0	0	0.003610	0	0
OR52B4	143496	broad.mit.edu	37	11	4388930	4388930	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:4388930C>A	ENST00000408920.2	-	1	686	c.596G>T	c.(595-597)tGg>tTg	p.W199L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAACCCATACCAAATGTTTAT	0.363000													17	33					1.33834e-09	1.56089e-09	0.007413	1	0
TNXB	7148	broad.mit.edu	37	6	32029401	32029401	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:32029401G>A	ENST00000375244.3	-	21	7466	c.7265C>T	c.(7264-7266)tCc>tTc	p.S2422F	TNXB_ENST00000375247.2_Missense_Mutation_p.S2422F			P22105	TENX_HUMAN	tenascin XB	2482	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						GTCAGGGGAGGATCCTGTCAC	0.677000													131	225					0	0	0.003610	0	0
SLC36A1	206358	broad.mit.edu	37	5	150867732	150867732	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:150867732G>C	ENST00000243389.3	+	11	1571	c.1348G>C	c.(1348-1350)Gtg>Ctg	p.V450L	SLC36A1_ENST00000520701.1_Missense_Mutation_p.V450L	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	450				VV -> GG (in Ref. 2; AAP47194).	cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GGGCTTTGTGGTGGGGACCTA	0.552000													22	22					0	0	0.002780	0	0
TNNI3K	51086	broad.mit.edu	37	1	74905279	74905279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:74905279G>A	ENST00000370891.2	+	22	2303	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E763K|TNNI3K_ENST00000326637.3_Missense_Mutation_p.E662K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E763K	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTCACTGGCGAAATTCCATT	0.438000													32	37					0	0	0.002445	0	0
FOXS1	2307	broad.mit.edu	37	20	30432526	30432526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:30432526G>A	ENST00000375978.3	-	1	894	c.820C>T	c.(820-822)Ccc>Tcc	p.P274S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	274					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|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 activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GCAGGGGAGGGGGCTGCTGAG	0.647000													18	17					0	0	0.006122	0	0
SPAG9	9043	broad.mit.edu	37	17	49067086	49067086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:49067086G>A	ENST00000262013.7	-	21	2973	c.2765C>T	c.(2764-2766)cCt>cTt	p.P922L	SPAG9_ENST00000357122.4_Missense_Mutation_p.P908L|SPAG9_ENST00000510283.1_Missense_Mutation_p.P765L|SPAG9_ENST00000505279.1_Missense_Mutation_p.P912L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	922					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AACTCCCAAAGGATCTGTAAA	0.473000													19	21					0	0	0.006122	0	0
TPTE2	93492	broad.mit.edu	37	13	20024238	20024238	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:20024238C>T	ENST00000400230.2	-	13	995	c.951G>A	c.(949-951)gcG>gcA	p.A317A	TPTE2_ENST00000382975.4_Silent_p.A277A|TPTE2_ENST00000382978.1_Silent_p.A277A|TPTE2_ENST00000400103.2_Silent_p.A206A|TPTE2_ENST00000255310.6_Silent_p.A240A|TPTE2_ENST00000457266.2_Silent_p.A206A|TPTE2_ENST00000382977.4_Silent_p.A317A|TPTE2_ENST00000390680.2_Silent_p.A240A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	317	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TACAGTGAATCGCTACGATGT	0.318000													14	38					0	0	0.007291	0	0
CDH18	1016	broad.mit.edu	37	5	19838948	19838948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:19838948G>A	ENST00000507958.1	-	5	1138	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	CDH18_ENST00000511273.1_Missense_Mutation_p.R50C|CDH18_ENST00000274170.4_Missense_Mutation_p.R50C|CDH18_ENST00000382275.1_Missense_Mutation_p.R50C|CDH18_ENST00000506372.1_Missense_Mutation_p.R50C|CDH18_ENST00000502796.1_Missense_Mutation_p.R50C			Q13634	CAD18_HUMAN	cadherin 18, type 2	50					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R50C(2)		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)					CTTTTGGGACGATGATGGACT	0.418000													21	36					0	0	0.001523	0	0
RP1	6101	broad.mit.edu	37	8	55540286	55540286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:55540286C>T	ENST00000220676.1	+	4	3992	c.3844C>T	c.(3844-3846)Cct>Tct	p.P1282S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1282					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)			CACTTTTTTTCCTAGTGATGG	0.408000													56	74					0	0	0.003610	0	0
C4BPA	722	broad.mit.edu	37	1	207307801	207307801	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:207307801G>A	ENST00000367070.3	+	9	1331	c.1137G>A	c.(1135-1137)agG>agA	p.R379R		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	379	Sushi 6.				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						CTCAACACAGGAAAAGTCGTC	0.388000													35	39					0	0	0.003755	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756352	94756352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:94756352C>T	ENST00000554723.1	-	2	1117	c.699G>A	c.(697-699)atG>atA	p.M233I	SERPINA10_ENST00000554173.1_Missense_Mutation_p.M193I|SERPINA10_ENST00000393096.1_Missense_Mutation_p.M193I|SERPINA10_ENST00000261994.4_Missense_Mutation_p.M193I			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	193					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)		TGCGAAAATTCATAGGCACGC	0.403000													34	59					0	0	0.002836	0	0
ZNF208	7757	broad.mit.edu	37	19	22155686	22155686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:22155686C>T	ENST00000397126.4	-	4	2298	c.2150G>A	c.(2149-2151)gGa>gAa	p.G717E	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)				GGGTTTCTCTCCAGTATGAAT	0.373000													13	2					0	0	0.004990	0	0
FAT3	120114	broad.mit.edu	37	11	92087980	92087980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:92087980C>T	ENST00000298047.6	+	1	2719	c.2702C>T	c.(2701-2703)tCt>tTt	p.S901F	FAT3_ENST00000525166.1_Missense_Mutation_p.S751F|FAT3_ENST00000541502.1_Missense_Mutation_p.S901F|FAT3_ENST00000409404.2_Missense_Mutation_p.S901F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	901	Cadherin 8.				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)				GCCAATTATTCTTTGAAAATA	0.433000										TCGA Ovarian(4;0.039)			218	326					0	0	0.003610	0	0
E2F1	1869	broad.mit.edu	37	20	32268181	32268181	+	Silent	SNP	C	C	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:32268181C>A	ENST00000343380.5	-	2	442	c.303G>T	c.(301-303)ctG>ctT	p.L101L		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	101	Cyclin A/CDK2 binding.			KRRLDLETDHQYLAESSGPARGR -> RTPGTPRRQRRLCP PRRPGRAPC (in Ref. 8; AAD14150).	apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						TGCTCTCGGCCAGGTACTGAT	0.622000													22	38					1.55469e-16	1.82967e-16	0.003330	1	0
OR52A5	390054	broad.mit.edu	37	11	5153120	5153120	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:5153120G>A	ENST00000307388.1	-	1	752	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	251					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)		AGAACTGTAGGAAGACACAAA	0.418000													20	30					0	0	0.001523	0	0
DCC	1630	broad.mit.edu	37	18	50929209	50929209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:50929209C>T	ENST00000442544.2	+	19	3497	c.2881C>T	c.(2881-2883)Cgt>Tgt	p.R961C	DCC_ENST00000581580.1_Missense_Mutation_p.R596C|DCC_ENST00000412726.1_Missense_Mutation_p.R789C	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	961	Fibronectin type-III 6.				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)		AGGGAAGCCTCGTGCCGTCAT	0.512000													80	132					0	0	0.003610	0	0
PTH2R	5746	broad.mit.edu	37	2	209302496	209302496	+	Nonsense_Mutation	SNP	C	C	T	rs144936061		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:209302496C>T	ENST00000272847.2	+	4	514	c.301C>T	c.(301-303)Cga>Tga	p.R101*	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	101						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGTTGCTTTCCGACACTGTAA	0.383000													17	30					0	0	0.001216	0	0
CSMD3	114788	broad.mit.edu	37	8	114327001	114327001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:114327001C>T	ENST00000297405.5	-	2	444	c.200G>A	c.(199-201)gGa>gAa	p.G67E	CSMD3_ENST00000455883.2_Missense_Mutation_p.G67E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G67E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G27E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	67	CUB 1.					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						TTTTAAAGTTCCACCACATGT	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			39	101					0	0	0.006999	0	0
OR4D9	390199	broad.mit.edu	37	11	59282923	59282923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:59282923G>A	ENST00000329328.3	+	1	538	c.538G>A	c.(538-540)Gat>Aat	p.D180N		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TTTCTACTGCGATGTCCCCCA	0.493000													53	84					0	0	0.003610	0	0
GAB4	128954	broad.mit.edu	37	22	17468949	17468949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:17468949G>A	ENST00000400588.1	-	3	694	c.587C>T	c.(586-588)cCc>cTc	p.P196L	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	196										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)				AGACACCGGGGGCTCAGATGT	0.632000													29	50					0	0	0.008361	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751332	26751332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:26751332G>A	ENST00000396641.2	+	2	761	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	LRRC3B_ENST00000456208.2_Missense_Mutation_p.E57K|LRRC3B_ENST00000417744.1_Missense_Mutation_p.E57K	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	57	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AAATCTCAAGGAAATACCTAG	0.413000													47	40					0	0	0.003610	0	0
IDE	3416	broad.mit.edu	37	10	94297304	94297304	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:94297304G>A	ENST00000265986.6	-	2	158	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	34					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTTTTTGGAAACTGAAAA	0.323000													169	61					0	0	0.003610	0	0
L1TD1	54596	broad.mit.edu	37	1	62672456	62672456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:62672456G>A	ENST00000498273.1	+	3	451	c.156G>A	c.(154-156)atG>atA	p.M52I		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	52										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						cagcaattatgaataagttta	0.348000													7	7					0	0	0.001984	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16847786	16847786	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:16847786C>T	ENST00000355661.3	-	10	1234	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	PLEKHA7_ENST00000531066.1_Silent_p.G408G|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.G408G			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	408					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						ACCCACCAGTCCCATTCTGTT	0.597000													46	74					0	0	0.003610	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761675	130761675	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:130761675G>A	ENST00000392429.1	+	2	2486	c.108G>A	c.(106-108)gaG>gaA	p.E36E	TMEM200A_ENST00000296978.3_Silent_p.E36E|TMEM200A_ENST00000545622.1_Silent_p.E36E	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	36						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)		CTACCCAAGAGAAGAAGCCCA	0.537000													52	22					0	0	0.003610	0	0
CPXM2	119587	broad.mit.edu	37	10	125516744	125516744	+	Silent	SNP	G	G	A	rs76525337	by1000genomes	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:125516744G>A	ENST00000241305.3	-	12	2056	c.1902C>T	c.(1900-1902)atC>atT	p.I634I	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	634					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)		CCATGAACACGATCAGAGATT	0.532000													27	17					0	0	0.006320	0	0
ADAM18	8749	broad.mit.edu	37	8	39495159	39495159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:39495159G>A	ENST00000265707.5	+	9	809	c.764G>A	c.(763-765)aGa>aAa	p.R255K	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.R231K	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	255	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)			ATATTACAAAGATTTTTGGCA	0.383000													23	21					0	0	0.001882	0	0
THEMIS	387357	broad.mit.edu	37	6	128134804	128134804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:128134804G>A	ENST00000368250.1	-	5	1243	c.745C>T	c.(745-747)Cct>Tct	p.P249S	THEMIS_ENST00000368248.2_Missense_Mutation_p.P328S|THEMIS_ENST00000543064.1_Missense_Mutation_p.P328S|THEMIS_ENST00000537166.1_Missense_Mutation_p.P293S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	328	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						TGTCTTTTAGGAAAATTGCTT	0.458000													39	17					0	0	0.006230	0	0
CCR8	1237	broad.mit.edu	37	3	39374694	39374694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:39374694C>T	ENST00000326306.4	+	2	1010	c.872C>T	c.(871-873)aCt>aTt	p.T291I	CCR8_ENST00000414803.1_3'UTR|CCR8_ENST00000545843.1_Missense_Mutation_p.T208I	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	291					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATTTCCTTTACTCACTGCTGT	0.418000													40	32					0	0	0.002522	0	0
PECR	55825	broad.mit.edu	37	2	216914082	216914082	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:216914082G>A	ENST00000265322.7	-	6	692	c.618C>T	c.(616-618)tcC>tcT	p.S206S	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	206					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	p.S206S(1)		endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	CAGCAGTCTGGGAATAAATAA	0.353000													46	58					0	0	0.003214	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	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				62	39					0	0	0.003610	0	0
FOXK1	221937	broad.mit.edu	37	7	4780638	4780638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:4780638C>T	ENST00000328914.4	+	2	730	c.730C>T	c.(730-732)Ccg>Tcg	p.P244S	FOXK1_ENST00000446823.1_Missense_Mutation_p.P81S	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	244					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			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)		CGTCCCCTCCCCGACGGGCAC	0.697000													11	26					0	0	0.000978	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329984	8329984	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:8329984C>T	ENST00000359286.4	+	5	797	c.708C>T	c.(706-708)gcC>gcT	p.A236A		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		GTGGGAAAGCCTTTATTCAAT	0.398000													53	86					0	0	0.003610	0	0
CACNA1H	8912	broad.mit.edu	37	16	1245969	1245969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:1245969G>A	ENST00000348261.5	+	5	837	c.589G>A	c.(589-591)Gct>Act	p.A197T	CACNA1H_ENST00000565831.1_Missense_Mutation_p.A197T|CACNA1H_ENST00000358590.4_Missense_Mutation_p.A197T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	197					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)	GAGCCTCTCGGCTATCAGGAC	0.662000													50	43					0	0	0.003610	0	0
HIVEP1	3096	broad.mit.edu	37	6	12123583	12123583	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:12123583C>T	ENST00000379388.2	+	4	3887	c.3555C>T	c.(3553-3555)caC>caT	p.H1185H		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1185					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.H1185H(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGAAAGTCACCCTTCTCGGG	0.507000													13	28					0	0	0.001368	0	0
LRRC7	57554	broad.mit.edu	37	1	70504533	70504533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:70504533G>A	ENST00000310961.5	+	22	3345	c.2927G>A	c.(2926-2928)gGg>gAg	p.G976E	LRRC7_ENST00000415775.2_Missense_Mutation_p.G255E|LRRC7_ENST00000035383.5_Missense_Mutation_p.G971E			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	971						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						TATGCTTCTGGGAGTGATCAC	0.418000													22	20					0	0	0.002780	0	0
MXRA5	25878	broad.mit.edu	37	X	3228724	3228724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:3228724C>T	ENST00000217939.6	-	7	7674	c.7520G>A	c.(7519-7521)aGt>aAt	p.S2507N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2507	Ig-like C2-type 9.					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)				CTTCCTCAAACTCCTGATGTC	0.587000													3	17					0	0	0.000248	0	0
ISX	91464	broad.mit.edu	37	22	35478537	35478537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:35478537C>T	ENST00000308700.6	+	2	1208	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	ISX_ENST00000404699.2_Missense_Mutation_p.R86C	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	86						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R86C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCGGAGGGTTCGTACCACCTT	0.557000													41	55					0	0	0.002522	0	0
CD163	9332	broad.mit.edu	37	12	7651598	7651598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:7651598C>T	ENST00000359156.4	-	4	846	c.644G>A	c.(643-645)gGa>gAa	p.G215E	CD163_ENST00000432237.2_Missense_Mutation_p.G215E|CD163_ENST00000396620.3_Missense_Mutation_p.G215E|CD163_ENST00000541972.1_Missense_Mutation_p.G203E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	215	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						AGAGCCTTCTCCAAAATTAGA	0.408000													73	98					0	0	0.003610	0	0
PRSS1	5644	broad.mit.edu	37	7	142459847	142459847	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:142459847C>T	ENST00000486171.1	+	4	482	c.465C>T	c.(463-465)atC>atT	p.I155I	PRSS1_ENST00000311737.7_Silent_p.I141I			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	141	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGTGCCTCATCTCTGGCTGGG	0.567000													34	174					0	0	0.003755	0	0
S100A2	6273	broad.mit.edu	37	1	153536302	153536302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:153536302G>A	ENST00000368708.3	-	2	421	c.49C>T	c.(49-51)Cac>Tac	p.H17Y	S100A2_ENST00000497140.1_5'UTR|S100A2_ENST00000487430.2_Missense_Mutation_p.H17Y|S100A2_ENST00000368709.1_Missense_Mutation_p.H17Y|S100A2_ENST00000368707.4_Missense_Mutation_p.H17Y|S100A2_ENST00000368710.1_Missense_Mutation_p.H17Y	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	18	EF-hand 1.				endothelial cell migration		calcium ion binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTACTTGTGGAAGGTAGTG	0.567000													25	34					0	0	0.003954	0	0
ANO2	57101	broad.mit.edu	37	12	5687641	5687641	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:5687641G>A	ENST00000546188.1	-	22	2351	c.2280C>T	c.(2278-2280)ccC>ccT	p.P760P	ANO2_ENST00000356134.5_Silent_p.P760P|ANO2_ENST00000327087.8_Silent_p.P759P			Q9NQ90	ANO2_HUMAN	anoctamin 2	764						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						CAGGTGCCAGGGGAAAGGAGG	0.537000													20	27					0	0	0.001523	0	0
KIF4B	285643	broad.mit.edu	37	5	154396923	154396923	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:154396923C>T	ENST00000435029.4	+	1	3664	c.3504C>T	c.(3502-3504)atC>atT	p.I1168I		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1168	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)			ATAGCAAGATCCTGAAAGAGA	0.527000													19	30					0	0	0.007413	0	0
OR10G8	219869	broad.mit.edu	37	11	123901033	123901033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:123901033G>A	ENST00000431524.1	+	1	737	c.704G>A	c.(703-705)aGa>aAa	p.R235K		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		GGGAAGCACAGAGCCTTTCAG	0.547000													36	13					0	0	0.003755	0	0
TGM3	7053	broad.mit.edu	37	20	2290449	2290449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:2290449G>A	ENST00000381458.5	+	2	217	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	52					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)	TGGCTCTAACGAAAGACTGGA	0.498000													35	60					0	0	0.005524	0	0
MROH2B	133558	broad.mit.edu	37	5	41015533	41015533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:41015533C>T	ENST00000399564.4	-	29	3382	c.2932G>A	c.(2932-2934)Gaa>Aaa	p.E978K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E533K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCATCACTTTCCAGCCCTTCC	0.408000													17	28					0	0	0.001882	0	0
USP31	57478	broad.mit.edu	37	16	23117577	23117577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:23117577G>A	ENST00000219689.7	-	4	909	c.910C>T	c.(910-912)Cct>Tct	p.P304S		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	304					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CAAAGGAAAGGATCAAAAGTG	0.388000													14	28					0	0	0.002450	0	0
COL4A5	1287	broad.mit.edu	37	X	107819142	107819142	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:107819142C>T	ENST00000328300.6	+	10	793	c.549C>T	c.(547-549)ggC>ggT	p.G183G	COL4A5_ENST00000361603.2_Silent_p.G183G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	183	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						TATAACAGGGCCTACCTGGTC	0.413000									Alport syndrome with Diffuse Leiomyomatosis				4	2					0	0	0.001984	0	0
GRIA2	2891	broad.mit.edu	37	4	158256915	158256915	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:158256915C>T	ENST00000296526.7	+	10	1684	c.1359C>T	c.(1357-1359)atC>atT	p.I453I	GRIA2_ENST00000449365.1_Silent_p.I406I|GRIA2_ENST00000264426.9_Silent_p.I453I|GRIA2_ENST00000393815.2_Silent_p.I406I|GRIA2_ENST00000507898.1_Silent_p.I406I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	453					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)	CTGCAGAAATCGCCAAACATT	0.443000													13	12					0	0	0.002450	0	0
NAT2	10	broad.mit.edu	37	8	18257539	18257539	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:18257539G>A	ENST00000286479.3	+	2	133	c.26G>A	c.(25-27)aGa>aAa	p.R9K	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	9					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TATTTTGAAAGAATTGGCTAT	0.358000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				44	29					0	0	0.003610	0	0
CELSR3	1951	broad.mit.edu	37	3	48686246	48686246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:48686246C>T	ENST00000544264.1	-	19	6978	c.6698G>A	c.(6697-6699)cGa>cAa	p.R2233Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.R2228Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2228					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCAGTGACTCGAACATCTTG	0.602000													17	33					0	0	0.006122	0	0
TACR3	6870	broad.mit.edu	37	4	104511023	104511023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:104511023C>T	ENST00000304883.2	-	5	1354	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	405						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)		GGACTCCATTCTGGTCACGGT	0.507000													95	108					0	0	0.003610	0	0
EBF1	1879	broad.mit.edu	37	5	158523987	158523987	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:158523987C>T	ENST00000313708.6	-	2	568	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Missense_Mutation_p.E96K|EBF1_ENST00000380654.4_Missense_Mutation_p.E96K	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	96					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTACTTTTTCCTTCTCCACG	0.642000			T	HMGA2	lipoma								12	13					0	0	0.001368	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789370	6789370	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:6789370G>A	ENST00000338569.2	-	1	916	c.819C>T	c.(817-819)atC>atT	p.I273I		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	273					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)		AAACAGAGATGATGTTGTCTT	0.512000													32	46					0	0	0.002096	0	0
COL5A1	1289	broad.mit.edu	37	9	137620555	137620555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:137620555G>A	ENST00000371817.3	+	6	1240	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	276	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	p.E276K(1)		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)		CTATTACTACGAATACCCCTA	0.607000													64	82					0	0	0.003610	0	0
TRAV17	28666	broad.mit.edu	37	14	22466141	22466141	+	RNA	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:22466141G>A	ENST00000390445.2	+	0	218																											AGTCAACAGGGAGAAGAGGAT	0.423000													10	14					0	0	0.006214	0	0
TRIM8	81603	broad.mit.edu	37	10	104416968	104416968	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:104416968C>T	ENST00000302424.6	+	6	1635	c.1513C>T	c.(1513-1515)Ccg>Tcg	p.P505S		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	505						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTACTCACACCCGCTCCCGCC	0.662000													21	7					0	0	0.001523	0	0
XIRP2	129446	broad.mit.edu	37	2	168107738	168107738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:168107738C>T	ENST00000409195.1	+	9	9925	c.9836C>T	c.(9835-9837)tCc>tTc	p.S3279F	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3279F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S3057F|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3104					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						GGACTAAATTCCACTGATCAC	0.463000													25	30					0	0	0.005443	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450819	105450819	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:105450819G>T	ENST00000337685.2	+	5	2179	c.1394G>T	c.(1393-1395)aGt>aTt	p.S465I	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S465I|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S465I	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	465										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATAGTGAGAGTATTGACTGG	0.363000													39	12					2.38262e-10	2.79138e-10	0.002522	1	0
BTBD11	121551	broad.mit.edu	37	12	107713769	107713769	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:107713769T>A	ENST00000280758.5	+	1	1580	c.1052T>A	c.(1051-1053)cTg>cAg	p.L351Q	BTBD11_ENST00000490090.2_Missense_Mutation_p.L351Q|BTBD11_ENST00000420571.2_Missense_Mutation_p.L351Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	351						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						GTGGAGACCCTGGAGCACACG	0.687000													7	11					0	0	0.001984	0	0
MON1B	22879	broad.mit.edu	37	16	77232134	77232134	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:77232134C>A	ENST00000248248.3	+	6	1923	c.1573C>A	c.(1573-1575)Ccc>Acc	p.P525T	MON1B_ENST00000545553.1_Missense_Mutation_p.P379T|MON1B_ENST00000439557.2_Missense_Mutation_p.P416T	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	525							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TCGTTACCCACCCAAGTACTC	0.562000													44	22					6.36616e-10	7.44153e-10	0.003610	1	0
SNTB1	6641	broad.mit.edu	37	8	121706062	121706062	+	Missense_Mutation	SNP	G	G	A	rs144965371	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:121706062G>A	ENST00000395601.3	-	3	1072	c.658C>T	c.(658-660)Cct>Tct	p.P220S	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.P220S	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	220	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CCTAACCGAGGGGATTCAGGC	0.557000													71	50					0	0	0.003610	0	0
NKAP	79576	broad.mit.edu	37	X	119068486	119068486	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:119068486C>T	ENST00000371410.3	-	5	874	c.708G>A	c.(706-708)aaG>aaA	p.K236K	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	236	Lys-rich.|Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTTCCTTTTTCTTGGCTTTCT	0.249000													13	17					0	0	0.004007	0	0
CBX8	57332	broad.mit.edu	37	17	77768488	77768488	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:77768488G>A	ENST00000269385.4	-	5	1233	c.1116C>T	c.(1114-1116)acC>acT	p.T372T		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	372					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TAATGGTGACGGTCAAAAAGT	0.542000													86	141					0	0	0.003610	0	0
CLCN7	1186	broad.mit.edu	37	16	1503867	1503867	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:1503867G>A	ENST00000382745.4	-	14	1787	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A	CLCN7_ENST00000448525.1_Silent_p.A370A|CLCN7_ENST00000262318.8_Silent_p.A370A	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	394						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGTAGTTCAAGGCATTGAACA	0.597000													18	30					0	0	0.006122	0	0
NPY5R	4889	broad.mit.edu	37	4	164271808	164271808	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:164271808C>T	ENST00000515560.1	+	4	1905	c.383C>T	c.(382-384)tCa>tTa	p.S128L	NPY5R_ENST00000506953.1_Missense_Mutation_p.S128L|NPY5R_ENST00000338566.3_Missense_Mutation_p.S128L			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	128					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GTTTTGGTTTCAACTTTAATT	0.358000													52	128					0	0	0.003610	0	0
AOC1	26	broad.mit.edu	37	7	150553642	150553642	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:150553642G>A	ENST00000493429.1	+	4	668	c.84G>A	c.(82-84)agG>agA	p.R28R	AOC1_ENST00000467291.1_Silent_p.R28R|AOC1_ENST00000360937.4_Silent_p.R28R|AOC1_ENST00000416793.2_Silent_p.R28R					amine oxidase, copper containing 1																		CTCTGCCCAGGAAGGCAGGGG	0.647000													23	30					0	0	0.003330	0	0
CDH6	1004	broad.mit.edu	37	5	31323136	31323136	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:31323136C>T	ENST00000265071.2	+	12	2359	c.2094C>T	c.(2092-2094)ttC>ttT	p.F698F		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	698					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						AAGCCCTTTTCCTACCCCGAC	0.522000													19	31					0	0	0.001523	0	0
OR2T12	127064	broad.mit.edu	37	1	248457919	248457919	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:248457919C>T	ENST00000317996.1	-	1	961	c.960_splice	c.e1+1	p.*321_splice		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	0					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)			GACACTAGATCATCTTGACCT	0.403000													41	98					0	0	0.002222	0	0
INPP5J	27124	broad.mit.edu	37	22	31524530	31524530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:31524530C>T	ENST00000331075.5	+	9	2132	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S	INPP5J_ENST00000402238.1_Missense_Mutation_p.P60S|INPP5J_ENST00000405300.1_Missense_Mutation_p.P328S|INPP5J_ENST00000404390.3_Missense_Mutation_p.P327S|INPP5J_ENST00000404453.1_Missense_Mutation_p.P60S|INPP5J_ENST00000412277.2_Missense_Mutation_p.P628S|INPP5J_ENST00000401755.1_Missense_Mutation_p.P60S|INPP5J_ENST00000400294.2_Missense_Mutation_p.P328S			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	695	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GGGTCCCAGCCCCTCAGGACG	0.602000													25	44					0	0	0.003330	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		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)		agcagcagcaacagcagcagc	0.602000													3	45					0	0	0.004672	0	0
MYH1	4619	broad.mit.edu	37	17	10404792	10404792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:10404792C>T	ENST00000226207.5	-	27	3467	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1125						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						GCCTCGATTTCCTCCTCCAGC	0.542000													19	11					0	0	0.001523	0	0
F2	2147	broad.mit.edu	37	11	46745042	46745042	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:46745042G>A	ENST00000311907.5	+	6	589	c.533G>A	c.(532-534)aGg>aAg	p.R178K	F2_ENST00000530231.1_Missense_Mutation_p.R178K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	178	Kringle 1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	ACCGTGAGGAGGCAGGAATGC	0.657000													11	13					0	0	0.000978	0	0
IQCA1	79781	broad.mit.edu	37	2	237272552	237272552	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:237272552C>T	ENST00000409907.3	-	15	2014	c.1740G>A	c.(1738-1740)ggG>ggA	p.G580G	IQCA1_ENST00000309507.5_Silent_p.G577G|IQCA1_ENST00000431676.2_Silent_p.G539G			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	580							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GCATTTTCTTCCCTACCCCAG	0.512000													32	32					0	0	0.001786	0	0
MTG2	26164	broad.mit.edu	37	20	60773847	60773847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr20:60773847G>A	ENST00000370823.3	+	5	644	c.626G>A	c.(625-627)gGa>gAa	p.G209E	MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		TGTACCCCTGGACAGCCAGGA	0.622000													21	43					0	0	0.003954	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81614090	81614090	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:81614090A>G	ENST00000380167.4	+	10	1971	c.646A>G	c.(646-648)Agc>Ggc	p.S216G	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.S216G|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	216					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TAAACTGAGAAGCCAACAGAT	0.532000													25	52					0	0	0.003954	0	0
THSD7B	80731	broad.mit.edu	37	2	138420986	138420986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:138420986G>A	ENST00000409968.1	+	26	4670	c.4492G>A	c.(4492-4494)Gag>Aag	p.E1498K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E1470K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1501K|THSD7B_ENST00000543459.1_Silent_p.Q332Q					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)		GGGCTATACAGAGATAATGAA	0.368000													3	4					0	0	0.000248	0	0
GLDN	342035	broad.mit.edu	37	15	51669683	51669683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:51669683G>A	ENST00000335449.6	+	2	457	c.401G>A	c.(400-402)gGc>gAc	p.G134D	GLDN_ENST00000396399.2_Missense_Mutation_p.G10D	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	134					cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGCACCAAGGGCATCTGCCTC	0.602000													15	35					0	0	0.006122	0	0
TSPAN16	26526	broad.mit.edu	37	19	11422824	11422824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:11422824C>T	ENST00000316737.1	+	6	763	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.H180Y|TSPAN16_ENST00000590327.1_Missense_Mutation_p.H205Y	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	205						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GGGCTGTTTCCATAAACTCCT	0.502000													7	6					0	0	0.006214	0	0
U2SURP	23350	broad.mit.edu	37	3	142753812	142753812	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:142753812T>G	ENST00000397933.2	+	18	1991	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	U2SURP_ENST00000493598.2_Missense_Mutation_p.F645V|U2SURP_ENST00000473835.2_Missense_Mutation_p.F646V			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	646					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						ATCTGAAAACTTTAAGGTACG	0.358000													8	4					0	0	0.004482	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137201	121137201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:121137201G>A	ENST00000273666.6	+	27	3587	c.3316G>A	c.(3316-3318)Gga>Aga	p.G1106R	STXBP5L_ENST00000471454.1_Missense_Mutation_p.G1082R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1106					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)		AGCTTCGGCAGGAAAAGCATC	0.473000													8	6					0	0	0.006214	0	0
FUS	2521	broad.mit.edu	37	16	31195198	31195198	+	Silent	SNP	A	A	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:31195198A>T	ENST00000254108.7	+	4	315	c.210A>T	c.(208-210)tcA>tcT	p.S70S	FUS_ENST00000380244.3_Silent_p.S69S|FUS_ENST00000568685.1_Silent_p.S70S	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	70	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GAACTCAGTCAACTCCCCAGG	0.507000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								53	58					0	0	0.003610	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072839	74072839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:74072839C>T	ENST00000370367.3	+	2	244	c.191C>T	c.(190-192)cCg>cTg	p.P64L		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		GAACGCATCCCGCACGTCCAG	0.612000													39	20					0	0	0.006999	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													3	24					0	0	0.004672	0	0
GAB4	128954	broad.mit.edu	37	22	17468950	17468950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:17468950G>A	ENST00000400588.1	-	3	693	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	196										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)				GACACCGGGGGCTCAGATGTG	0.632000													28	51					0	0	0.007291	0	0
IGHV4-39	28394	broad.mit.edu	37	14	106878068	106878068	+	RNA	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:106878068G>A	ENST00000390619.2	-	0	58																											TCTTGCACATGAGATCCATGA	0.493000													10	11					0	0	0.006214	0	0
MED12L	116931	broad.mit.edu	37	3	151134125	151134125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:151134125C>T	ENST00000474524.1	+	41	6256	c.6218C>T	c.(6217-6219)cCc>cTc	p.P2073L	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2073	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P2073H(1)		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)			cagccccagccccagcagcct	0.542000													27	4					0	0	0.003954	0	0
ABI1	10006	broad.mit.edu	37	10	27066037	27066037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr10:27066037G>A	ENST00000355394.4	-	3	642	c.419C>T	c.(418-420)cCt>cTt	p.P140L	ABI1_ENST00000376137.4_Missense_Mutation_p.P140L|ABI1_ENST00000376166.1_Missense_Mutation_p.P140L|ABI1_ENST00000376142.2_Missense_Mutation_p.P140L|ABI1_ENST00000359188.4_Missense_Mutation_p.P140L|ABI1_ENST00000376160.1_Missense_Mutation_p.P140L|ABI1_ENST00000376140.3_Missense_Mutation_p.P140L|ABI1_ENST00000346832.5_Missense_Mutation_p.P157L|ABI1_ENST00000536334.1_Missense_Mutation_p.P140L|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376139.2_Missense_Mutation_p.P140L|ABI1_ENST00000376170.4_Missense_Mutation_p.P140L|ABI1_ENST00000473481.1_5'UTR|ABI1_ENST00000376138.3_Missense_Mutation_p.P140L|ABI1_ENST00000376134.3_Missense_Mutation_p.P140L			Q8IZP0	ABI1_HUMAN	abl-interactor 1	140					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTAATCGATAGGTTTCCGAAT	0.358000													24	8					0	0	0.004656	0	0
GPR3	2827	broad.mit.edu	37	1	27721040	27721040	+	Silent	SNP	T	T	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:27721040T>C	ENST00000374024.3	+	2	837	c.738T>C	c.(736-738)atT>atC	p.I246I		NM_005281.2	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	246					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		GCAAGGGCATTGCCACACTGG	0.632000													16	32					0	0	0.003163	0	0
SCN10A	6336	broad.mit.edu	37	3	38755538	38755538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	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													41	110					0	0	0.002222	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701406	23701406	+	Silent	SNP	T	T	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:23701406T>C	ENST00000397312.2	-	5	958	c.684A>G	c.(682-684)ggA>ggG	p.G228G	ELAVL2_ENST00000380117.1_Silent_p.G228G|ELAVL2_ENST00000223951.6_Silent_p.G228G|ELAVL2_ENST00000380110.4_Silent_p.G257G|ELAVL2_ENST00000544538.1_Silent_p.G228G	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	228					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GAGCTAGCGGTCCTGGATACC	0.468000													69	45					0	0	0.003610	0	0
BIN2	51411	broad.mit.edu	37	12	51695882	51695882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:51695882C>T	ENST00000267012.4	-	5	391	c.330G>A	c.(328-330)tgG>tgA	p.W110*	BIN2_ENST00000604560.1_Nonsense_Mutation_p.W83*|BIN2_ENST00000452142.2_Intron|BIN2_ENST00000544402.1_Nonsense_Mutation_p.W84*	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	110	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CGTAGTCTTCCCAAAGGAGAT	0.463000													13	28					0	0	0.007413	0	0
GCFC2	6936	broad.mit.edu	37	2	75923424	75923424	+	Silent	SNP	A	A	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:75923424A>T	ENST00000321027.3	-	5	868	c.735T>A	c.(733-735)ctT>ctA	p.L245L	GCFC2_ENST00000409857.3_Silent_p.L207L|GCFC2_ENST00000541687.1_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN	GC-rich sequence DNA-binding factor 2	245					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										TGCCACAGGAAAGATCTATGT	0.289000													27	39					0	0	0.008361	0	0
NAALADL1	10004	broad.mit.edu	37	11	64821759	64821759	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:64821759G>T	ENST00000358658.3	-	6	982	c.955C>A	c.(955-957)Ccc>Acc	p.P319T	NAALADL1_ENST00000355369.2_Missense_Mutation_p.P319T|NAALADL1_ENST00000339885.2_Missense_Mutation_p.P319T|NAALADL1_ENST00000340252.4_Missense_Mutation_p.P319T|NAALADL1_ENST00000356632.3_Intron|NAALADL1_ENST00000355721.3_Missense_Mutation_p.P278T	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	319	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CGGAAGCCGGGACCCAACCTG	0.627000													22	43					2.41591e-17	2.84968e-17	0.004656	1	0
CFAP54	144535	broad.mit.edu	37	12	97043713	97043713	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:97043713G>A	ENST00000524981.3	+	2	88	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K				Q6ZTY8	CL063_HUMAN		4										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						AATGAGTGATGAAAATATGTC	0.318000													15	28					0	0	0.004007	0	0
OR2T2	401992	broad.mit.edu	37	1	248617058	248617058	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:248617058G>A	ENST00000342927.3	+	1	982	c.960G>A	c.(958-960)gtG>gtA	p.V320V		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	320					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)			TGGCGACTGTGATCAGGAAGG	0.552000													19	32					0	0	0.002299	0	0
ELP4	26610	broad.mit.edu	37	11	31669377	31669377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:31669377C>T	ENST00000395934.2	+	8	1023	c.1016C>T	c.(1015-1017)cCa>cTa	p.P339L	Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000350638.5_Missense_Mutation_p.P339L|ELP4_ENST00000379163.5_Missense_Mutation_p.P340L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	339					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GAAACTAACCCATTGTATAAG	0.398000													17	26					0	0	0.004990	0	0
KIAA1109	84162	broad.mit.edu	37	4	123280818	123280818	+	Silent	SNP	T	T	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:123280818T>C	ENST00000264501.4	+	85	15115	c.14742T>C	c.(14740-14742)taT>taC	p.Y4914Y	KIAA1109_ENST00000388738.3_Silent_p.Y4914Y			Q2LD37	K1109_HUMAN	KIAA1109	4914					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCATCACTTATACTACTGTGG	0.363000													25	43					0	0	0.004656	0	0
GPR32	2854	broad.mit.edu	37	19	51274004	51274004	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:51274004C>T	ENST00000270590.4	+	1	284	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	49						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)		CTGTGGTTATCCTGTCTGCGT	0.592000													24	11					0	0	0.003330	0	0
PLB1	151056	broad.mit.edu	37	2	28836922	28836922	+	Missense_Mutation	SNP	C	C	T	rs150999428	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:28836922C>T	ENST00000422425.2	+	43	3165	c.3121C>T	c.(3121-3123)Cgg>Tgg	p.R1041W	PLB1_ENST00000327757.5_Missense_Mutation_p.R1052W|PLB1_ENST00000541605.1_Missense_Mutation_p.R17W	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1052	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGAACCCCTCGGAATAGTAA	0.463000													53	88					0	0	0.003610	0	0
AMICA1	120425	broad.mit.edu	37	11	118081352	118081352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:118081352C>T	ENST00000292067.7	-	3	685	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	AMICA1_ENST00000533261.1_Missense_Mutation_p.G92R|AMICA1_ENST00000526620.1_Missense_Mutation_p.G53R|AMICA1_ENST00000356289.5_Missense_Mutation_p.G92R	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	92	Ig-like V-type 1.				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)		AAGATGTCCCCCATCAAGTGT	0.498000													35	23					0	0	0.006999	0	0
ZNF136	7695	broad.mit.edu	37	19	12298788	12298788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:12298788C>T	ENST00000343979.4	+	4	1735	c.1595C>T	c.(1594-1596)cCt>cTt	p.P532L	ZNF136_ENST00000398616.2_Missense_Mutation_p.P466L	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	532					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GATGGACCACCTTATAAATGC	0.428000													22	13					0	0	0.001882	0	0
CD276	80381	broad.mit.edu	37	15	73995208	73995208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:73995208C>T	ENST00000318443.5	+	4	816	c.514C>T	c.(514-516)Cct>Tct	p.P172S	CD276_ENST00000537340.2_Missense_Mutation_p.P26S|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000561213.1_Missense_Mutation_p.P172S	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	172	Ig-like C2-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						CCAGGGCTACCCTGAGGCTGA	0.627000													18	28					0	0	0.001216	0	0
OR52N1	79473	broad.mit.edu	37	11	5809841	5809841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:5809841G>A	ENST00000317078.1	-	1	205	c.206C>T	c.(205-207)tCc>tTc	p.S69F	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	69					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)		ATCTGTGAAGGAAAGAAGGGC	0.458000													25	48					0	0	0.003330	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36375139	36375139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:36375139C>T	ENST00000312412.4	-	3	378	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K																	kidney(1)|lung(3)	4						GTGACTTTTTCATCTTCATTC	0.363000													9	15					0	0	0.003163	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149378145	149378145	+	RNA	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:149378145C>T	ENST00000415338.1	-	0	1061																											AGCAGCGGCTCAGTGGGTGGC	0.547000													6	21					0	0	0.002450	0	0
PAX6	5080	broad.mit.edu	37	11	31815651	31815651	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:31815651T>C	ENST00000419022.1	-	10	1204	c.736A>G	c.(736-738)Acc>Gcc	p.T246A	PAX6_ENST00000379132.3_Missense_Mutation_p.T232A|PAX6_ENST00000379129.2_Missense_Mutation_p.T246A|PAX6_ENST00000379115.4_Missense_Mutation_p.T246A|PAX6_ENST00000379111.2_Missense_Mutation_p.T232A|PAX6_ENST00000379123.5_Missense_Mutation_p.T232A|PAX6_ENST00000379107.2_Missense_Mutation_p.T246A|PAX6_ENST00000241001.8_Missense_Mutation_p.T232A	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	232					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGATAATGGGTTCTCTCAAAC	0.428000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				47	73					0	0	0.003610	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45555835	45555835	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:45555835C>T	ENST00000588982.1	-	4	2157	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E	ZBTB7C_ENST00000535628.2_Silent_p.E552E|ZBTB7C_ENST00000586438.1_Silent_p.E552E|ZBTB7C_ENST00000590800.1_Silent_p.E552E|ZBTB7C_ENST00000332053.2_Silent_p.E552E			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	552						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						TCTGTGTCTCCTCGAACTGCC	0.726000													9	7					0	0	0.004482	0	0
DMXL2	23312	broad.mit.edu	37	15	51757791	51757791	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:51757791G>A	ENST00000251076.5	-	31	7862	c.7575C>T	c.(7573-7575)ttC>ttT	p.F2525F	DMXL2_ENST00000543779.2_Silent_p.F2526F|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Silent_p.F1889F	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2525						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)		CAATAGGAAAGAAATTCTTGA	0.328000													40	77					0	0	0.003610	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718278	103718278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:103718278C>T	ENST00000245312.3	-	1	918	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	108					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)					GCAGTTCCTCCAGGGCAGCAT	0.507000													24	58					0	0	0.002299	0	0
KDM4B	23030	broad.mit.edu	37	19	5110695	5110695	+	Silent	SNP	C	C	T	rs147526641	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:5110695C>T	ENST00000159111.4	+	10	1199	c.981C>T	c.(979-981)ccC>ccT	p.P327P	KDM4B_ENST00000381759.4_Silent_p.P327P|KDM4B_ENST00000536461.1_Silent_p.P327P	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	327					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCCTGCAGCCCGAGCGCTACG	0.667000													13	6					0	0	0.001368	0	0
TOM1L1	10040	broad.mit.edu	37	17	52991127	52991127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:52991127C>T	ENST00000575882.1	+	5	744	c.391C>T	c.(391-393)Cca>Tca	p.P131S	TOM1L1_ENST00000572158.1_Missense_Mutation_p.P124S|TOM1L1_ENST00000575333.1_Missense_Mutation_p.P131S|TOM1L1_ENST00000536554.1_Missense_Mutation_p.P54S|TOM1L1_ENST00000570371.1_Missense_Mutation_p.P131S|TOM1L1_ENST00000445275.2_Missense_Mutation_p.P131S|TOM1L1_ENST00000572405.1_Missense_Mutation_p.P96S|TOM1L1_ENST00000540336.1_Missense_Mutation_p.P54S|TOM1L1_ENST00000348161.4_Missense_Mutation_p.P54S	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	131	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ACAGGGCTTCCCAGGAGGTGT	0.398000													35	55					0	0	0.006999	0	0
ATP1A2	477	broad.mit.edu	37	1	160106104	160106104	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:160106104C>T	ENST00000361216.3	+	18	2596	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	ATP1A2_ENST00000392233.3_Missense_Mutation_p.S836F|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	836					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)			CCACGAAACTCCCAGACGGAC	0.612000													30	48					0	0	0.002096	0	0
IGKV1-17	28937	broad.mit.edu	37	2	89417004	89417004	+	RNA	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:89417004C>T	ENST00000490686.1	-	0	206																											TCCCTGGTTTCTGCTGATACC	0.527000													67	80					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152286842	152286842	+	Missense_Mutation	SNP	C	C	T	rs112248790		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:152286842C>T	ENST00000368799.1	-	3	555	c.520G>A	c.(520-522)Gga>Aga	p.G174R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	174					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)			TGGTTTTTTCCATATTCTTCT	0.348000									Ichthyosis				40	51					0	0	0.005524	0	0
GABRA6	2559	broad.mit.edu	37	5	161116173	161116173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:161116173G>A	ENST00000523217.1	+	4	656	c.414G>A	c.(412-414)atG>atA	p.M138I	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Missense_Mutation_p.M148I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	148					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)	TATACACCATGAGGTGAGGTT	0.363000										TCGA Ovarian(5;0.080)			13	26					0	0	0.001368	0	0
BRD1	23774	broad.mit.edu	37	22	50192641	50192641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr22:50192641C>T	ENST00000216267.8	-	3	2137	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	BRD1_ENST00000342989.5_Missense_Mutation_p.E146K|BRD1_ENST00000542442.1_Missense_Mutation_p.E244K|BRD1_ENST00000457780.2_Missense_Mutation_p.E551K|BRD1_ENST00000404034.1_Missense_Mutation_p.E551K|BRD1_ENST00000404760.1_Missense_Mutation_p.E551K	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	551					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCCACCTGCTCACGCTTGAGC	0.692000													8	22					0	0	0.004482	0	0
TCERG1	10915	broad.mit.edu	37	5	145834747	145834747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:145834747C>T	ENST00000296702.5	+	2	226	c.188C>T	c.(187-189)cCa>cTa	p.P63L	TCERG1_ENST00000394421.2_Missense_Mutation_p.P63L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	63	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCACCACCACGGCCGCCC	0.612000													40	84					0	0	0.002222	0	0
MND1	84057	broad.mit.edu	37	4	154335976	154335976	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:154335976T>A	ENST00000240488.3	+	8	674	c.585T>A	c.(583-585)ttT>ttA	p.F195L		NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	195					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					ATAGAACTTTTGGAATTCCAG	0.269000													13	23					0	0	0.003163	0	0
CRYGN	155051	broad.mit.edu	37	7	151133376	151133376	+	Silent	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:151133376A>G	ENST00000337323.2	-	3	432	c.306T>C	c.(304-306)ggT>ggC	p.G102G	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	102	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAAGTTGCAACCCTCGAAGA	0.532000													15	27					0	0	0.004007	0	0
OR5J2	282775	broad.mit.edu	37	11	55945014	55945014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:55945014G>A	ENST00000312298.1	+	1	921	c.921G>A	c.(919-921)atG>atA	p.M307I		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CCATAGAAATGAAACATTTCC	0.383000													9	10					0	0	0.006214	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146570	70146570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:70146570G>A	ENST00000335568.5	+	1	354	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E118K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	118					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AATCCTGTGGGAATTTCATGA	0.299000													49	70					0	0	0.003610	0	0
PZP	5858	broad.mit.edu	37	12	9302168	9302168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:9302168G>A	ENST00000261336.2	-	35	4443	c.4415C>T	c.(4414-4416)cCc>cTc	p.P1472L	PZP_ENST00000381997.2_Missense_Mutation_p.P1258L	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						TGTGCTGCAGGGGGCGATATA	0.448000													27	62					0	0	0.001786	0	0
TTYH1	57348	broad.mit.edu	37	19	54946739	54946739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:54946739G>A	ENST00000391739.3	+	12	1296	c.1234G>A	c.(1234-1236)Gcg>Acg	p.412_412insT	TTYH1_ENST00000301194.4_Silent_p.L381L|TTYH1_ENST00000376531.3_Silent_p.L381L|TTYH1_ENST00000376530.3_Silent_p.L381L|TTYH1_ENST00000489425.1_3'UTR			Q9H313	TTYH1_HUMAN	tweety family member 1	0					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTGCAGCCCTGCGGGGCCTGT	0.667000													24	7					0	0	0.003330	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2898644	2898644	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:2898644C>T	ENST00000254695.8	+	13	1018	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	RAP1GAP2_ENST00000366401.4_Silent_p.L295L|RAP1GAP2_ENST00000540393.2_Silent_p.L291L|RAP1GAP2_ENST00000542807.1_Silent_p.L310L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	310	Rap-GAP.				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						CCGAGGAGGCCTGGACGTGAC	0.517000													79	37					0	0	0.003610	0	0
CELA3A	10136	broad.mit.edu	37	1	22329523	22329523	+	Missense_Mutation	SNP	A	A	G	rs7531336	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:22329523A>G	ENST00000290122.3	+	2	90	c.71A>G	c.(70-72)cAc>cGc	p.H24R	CELA3A_ENST00000374663.1_Missense_Mutation_p.H24R	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTTCCTCTCACTCTTCCAGC	0.612000													3	42					0	0	0.001984	0	0
TNC	3371	broad.mit.edu	37	9	117845027	117845027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:117845027C>T	ENST00000350763.4	-	5	2602	c.2191G>A	c.(2191-2193)Gag>Aag	p.E731K	TNC_ENST00000423613.2_Missense_Mutation_p.E731K|TNC_ENST00000345230.3_Missense_Mutation_p.E731K|TNC_ENST00000341037.4_Missense_Mutation_p.E731K|TNC_ENST00000542877.1_Missense_Mutation_p.E731K|TNC_ENST00000340094.3_Missense_Mutation_p.E731K|TNC_ENST00000535648.1_Missense_Mutation_p.E731K|TNC_ENST00000537320.1_Missense_Mutation_p.E731K|TNC_ENST00000346706.3_Missense_Mutation_p.E731K	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	731	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			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						GGATCCCACTCCACTTCCACA	0.433000													31	42					0	0	0.002836	0	0
PRDM16	63976	broad.mit.edu	37	1	3321447	3321447	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:3321447G>A	ENST00000378398.3	+	8	1114	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	PRDM16_ENST00000514189.1_Silent_p.V344V|PRDM16_ENST00000378391.2_Silent_p.V343V|PRDM16_ENST00000442529.2_Silent_p.V343V|PRDM16_ENST00000441472.2_Silent_p.V343V|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Silent_p.V343V|PRDM16_ENST00000511072.1_Silent_p.V344V			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	343					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)		AAAACTGCGTGAAGGTAACCT	0.637000			T	EVI1	"""MDS, AML"""								10	17					0	0	0.006214	0	0
LYSMD4	145748	broad.mit.edu	37	15	100269697	100269697	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:100269697G>A	ENST00000545021.1	-	4	958	c.144C>T	c.(142-144)gaC>gaT	p.D48D	LYSMD4_ENST00000344791.2_Silent_p.D175D|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000409796.1_Silent_p.D174D|LYSMD4_ENST00000332728.4_Silent_p.D174D			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	174					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			CAATATCCTGGTCAATCCCCT	0.582000													29	47					0	0	0.008361	0	0
CHRM2	1129	broad.mit.edu	37	7	136700446	136700446	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:136700446G>A	ENST00000445907.2	+	3	1362	c.834G>A	c.(832-834)gaG>gaA	p.E278E	CHRM2_ENST00000320658.5_Silent_p.E278E|CHRM2_ENST00000402486.3_Silent_p.E278E|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Silent_p.E278E|CHRM2_ENST00000401861.1_Silent_p.E278E|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000453373.1_Silent_p.E278E|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	278					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)	TTCAGGGAGAGGAGAAGGAGA	0.488000													51	24					0	0	0.003610	0	0
IL33	90865	broad.mit.edu	37	9	6241783	6241783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr9:6241783G>A	ENST00000381434.3	+	1	102	c.89G>A	c.(88-90)gGa>gAa	p.G30E	IL33_ENST00000417746.2_Missense_Mutation_p.G30E|IL33_ENST00000463336.1_3'UTR|IL33_ENST00000456383.2_Missense_Mutation_p.G30E	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	30					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TTCAAGCTGGGAAGTAAGGAC	0.323000													7	13					0	0	0.001984	0	0
OR5R1	219479	broad.mit.edu	37	11	56185691	56185691	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:56185691G>A	ENST00000312253.1	-	1	17	c.18C>T	c.(16-18)atC>atT	p.I6I		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGACATAAATGATATTAACTT	0.393000													40	80					0	0	0.008740	0	0
HOXD13	3239	broad.mit.edu	37	2	176959219	176959219	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:176959219C>A	ENST00000392539.3	+	2	793	c.793C>A	c.(793-795)Cta>Ata	p.L265I		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	265					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GGATGTGGCTCTAAATCAGCC	0.468000			T	NUP98	AML*								19	30					2.94398e-08	3.42585e-08	0.007413	1	0
MAGI2	9863	broad.mit.edu	37	7	77789394	77789394	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:77789394G>A	ENST00000354212.4	-	16	3046	c.2793C>T	c.(2791-2793)ttC>ttT	p.F931F	MAGI2_ENST00000419488.1_Silent_p.F917F|MAGI2_ENST00000522391.1_Silent_p.F931F	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	931	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			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)				TGACAAAGCCGAAGCCCTCAT	0.517000													20	37					0	0	0.001523	0	0
CCNT2	905	broad.mit.edu	37	2	135711820	135711820	+	Silent	SNP	C	C	T	rs138282554		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:135711820C>T	ENST00000264157.5	+	9	1825	c.1795C>T	c.(1795-1797)Ctg>Ttg	p.L599L	CCNT2_ENST00000295238.6_Silent_p.L599L|CCNT2_ENST00000537343.1_Silent_p.L424L	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	599					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ACCCACTGTTCTGAGGAGTCC	0.557000													17	31					0	0	0.004007	0	0
CXorf21	80231	broad.mit.edu	37	X	30577767	30577767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:30577767G>A	ENST00000378962.3	-	3	1028	c.706C>T	c.(706-708)Cct>Tct	p.P236S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	236										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ATCTGGGTAGGAGAACTGTCA	0.423000													23	47					0	0	0.002299	0	0
REG4	83998	broad.mit.edu	37	1	120342462	120342462	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:120342462G>A	ENST00000354219.1	-	5	628	c.189C>T	c.(187-189)aaC>aaT	p.N63N	REG4_ENST00000256585.5_Silent_p.N63N|REG4_ENST00000530654.1_Silent_p.N63N	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	63	C-type lectin.					extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		GGTGGGCTCCGTTTCCGTAAG	0.512000													148	256					0	0	0.003610	0	0
OR51S1	119692	broad.mit.edu	37	11	4870000	4870000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:4870000C>T	ENST00000322101.2	-	1	514	c.439G>A	c.(439-441)Ggt>Agt	p.G147S	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	147					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)		CTAATTACACCATTGGTGAGG	0.552000													52	69					0	0	0.003610	0	0
VPS33A	65082	broad.mit.edu	37	12	122720359	122720359	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:122720359G>A	ENST00000267199.4	-	11	1526	c.1414C>T	c.(1414-1416)Ctc>Ttc	p.L472F	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.L433F	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	472					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCCATCCAGAGGCGTAATGTT	0.498000													65	111					0	0	0.003610	0	0
STK26	51765	broad.mit.edu	37	X	131197504	131197504	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:131197504C>T	ENST00000394334.2	+	4	570	c.317C>T	c.(316-318)tCa>tTa	p.S106L	MST4_ENST00000394335.2_Missense_Mutation_p.S29L|MST4_ENST00000496850.1_Missense_Mutation_p.S106L|MST4_ENST00000354719.6_Missense_Mutation_p.S106L|MST4_ENST00000481105.1_Missense_Mutation_p.S128L	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		106	Protein kinase.				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)					GGCGGTGGTTCAGCACTGGAT	0.323000													33	17					0	0	0.005524	0	0
NAALADL2	254827	broad.mit.edu	37	3	174814891	174814891	+	Missense_Mutation	SNP	C	C	T	rs141784446	by1000genomes	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:174814891C>T	ENST00000454872.1	+	2	483	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	119					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)		AAAGAGCAATCGCTGCAACTT	0.383000													43	14					0	0	0.002522	0	0
SLIT2	9353	broad.mit.edu	37	4	20618795	20618795	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:20618795G>A	ENST00000504154.1	+	35	4362	c.4110G>A	c.(4108-4110)cgG>cgA	p.R1370R	SLIT2_ENST00000273739.5_Silent_p.R1383R|SLIT2_ENST00000503837.1_Silent_p.R1366R|SLIT2_ENST00000503823.1_Silent_p.R1362R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1370					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						GTGACCAACGGACCAATGACC	0.552000													28	53					0	0	0.002096	0	0
CCDC88C	440193	broad.mit.edu	37	14	91780333	91780333	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:91780333C>T	ENST00000389857.6	-	15	1913	c.1827G>A	c.(1825-1827)ttG>ttA	p.L609L		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	609					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)				TCTCAAACTCCAACTGGCTGA	0.617000													8	19					0	0	0.004482	0	0
STAB2	55576	broad.mit.edu	37	12	104049247	104049247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:104049247G>A	ENST00000388887.2	+	15	1826	c.1622G>A	c.(1621-1623)gGa>gAa	p.G541E	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	541	FAS1 2.				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						ACCAATTTGGGACATGCCTTA	0.388000													26	36					0	0	0.004656	0	0
ADRBK1	156	broad.mit.edu	37	11	67049402	67049402	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:67049402C>T	ENST00000308595.5	+	11	1226	c.936C>T	c.(934-936)ttC>ttT	p.F312F	ADRBK1_ENST00000526285.1_Silent_p.F312F|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	312	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACAACCGCTTCGTGGTCTACC	0.642000													23	52					0	0	0.004656	0	0
RPL4	6124	broad.mit.edu	37	15	66793787	66793787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr15:66793787C>T	ENST00000307961.6	-	6	694	c.602G>A	c.(601-603)cGt>cAt	p.R201H	RPL4_ENST00000568588.1_Missense_Mutation_p.R107H	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	201				Missing (in Ref. 1; AAA60281).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCGCTGGATACGGCGACGGTT	0.428000													5	100					0	0	0.000602	0	0
VN1R2	317701	broad.mit.edu	37	19	53762534	53762534	+	Silent	SNP	T	T	C	rs113115189	byFrequency	TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:53762534T>C	ENST00000341702.3	+	1	990	c.906T>C	c.(904-906)aaT>aaC	p.N302N	VN1R2_ENST00000598458.1_3'UTR	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	302					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GTAGGAACAATCTCTACCCCA	0.493000													55	29					0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13850770	13850770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:13850770G>A	ENST00000265104.4	-	31	5209	c.5105C>T	c.(5104-5106)tCc>tTc	p.S1702F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1702	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)					CCCAGTAAGGGATTTCTGGCA	0.468000									Kartagener syndrome				16	33					0	0	0.007413	0	0
NSL1	25936	broad.mit.edu	37	1	212912027	212912027	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:212912027G>A	ENST00000366977.3	-	6	587	c.567_splice	c.e6-1	p.S190_splice	NSL1_ENST00000366976.1_Splice_Site_p.V167_splice|NSL1_ENST00000422588.2_3'UTR|NSL1_ENST00000366975.6_Splice_Site_p.S149_splice|NSL1_ENST00000366978.1_Intron	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	190					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TGCAGGCAAGGACTTCAAACA	0.373000													9	10					0	0	0.006214	0	0
RUFY4	285180	broad.mit.edu	37	2	218940309	218940309	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:218940309C>T	ENST00000374155.3	+	8	1564	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	RUFY4_ENST00000344321.7_Missense_Mutation_p.S365L|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000463872.1_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCT	0.592000													18	17					0	0	0.006122	0	0
PRLR	5618	broad.mit.edu	37	5	35065904	35065904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:35065904G>A	ENST00000382002.5	-	10	1582	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P285S|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.P285S|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	386					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)	GTTGTTTCAGGATTCTCTGGC	0.502000													32	50					0	0	0.001786	0	0
ERBB4	2066	broad.mit.edu	37	2	212989485	212989485	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:212989485A>G	ENST00000342788.4	-	2	536	c.226T>C	c.(226-228)Ttc>Ctc	p.F76L	ERBB4_ENST00000436443.1_Missense_Mutation_p.F76L|ERBB4_ENST00000402597.1_Missense_Mutation_p.F76L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	76					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)		ACCCGCAGGAAGGAGAGGTCC	0.517000										TSP Lung(8;0.080)			15	33					0	0	0.004990	0	0
MTHFR	4524	broad.mit.edu	37	1	11855394	11855394	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:11855394G>A	ENST00000376592.1	-	5	920	c.792C>T	c.(790-792)tcC>tcT	p.S264S	MTHFR_ENST00000376583.3_Silent_p.S305S|MTHFR_ENST00000376585.1_Silent_p.S305S|MTHFR_ENST00000376590.3_Silent_p.S264S			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	264					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GCTGCCGAAGGGAGTGGTAGC	0.572000													10	20					0	0	0.008291	0	0
ASCC3	10973	broad.mit.edu	37	6	101166119	101166119	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:101166119G>A	ENST00000369162.2	-	12	2255	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S	ASCC3_ENST00000522650.1_Silent_p.S637S	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	637	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TACTCTGTGTGGATTCCACCT	0.299000													16	12					0	0	0.004990	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68780325	68780325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:68780325C>T	ENST00000508048.1	-	9	1108	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.G359E|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.G362E			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	362	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATCATAAATTCCTTCCATATA	0.358000													22	46					0	0	0.003330	0	0
MGAM	8972	broad.mit.edu	37	7	141755409	141755409	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141755409C>T	ENST00000475668.2	+	28	3420	c.3366C>T	c.(3364-3366)atC>atT	p.I1122I	MGAM_ENST00000549489.2_Silent_p.I1122I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1122	Glucoamylase.				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)	TTATCCGCATCTCCACCCGCC	0.483000													86	146					0	0	0.003610	0	0
FGFR3	2261	broad.mit.edu	37	4	1807557	1807557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:1807557G>A	ENST00000340107.4	+	13	1988	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	FGFR3_ENST00000481110.2_Missense_Mutation_p.D577N|FGFR3_ENST00000412135.2_Missense_Mutation_p.D464N|FGFR3_ENST00000352904.1_Missense_Mutation_p.D464N|FGFR3_ENST00000260795.2_Missense_Mutation_p.D576N|FGFR3_ENST00000440486.2_Missense_Mutation_p.D576N	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	576	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	cccgggccTGGACTACTCCTT	0.682000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				24	12					0	0	0.002096	0	0
ABCB1	5243	broad.mit.edu	37	7	87179319	87179319	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:87179319C>T	ENST00000265724.3	-	14	1819	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	ABCB1_ENST00000543898.1_Missense_Mutation_p.E404K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	468	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCAATGATTTCCCGTAGAAAC	0.408000													35	62					0	0	0.002836	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439344	150439344	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:150439344G>A	ENST00000358647.3	+	3	484	c.117G>A	c.(115-117)ggG>ggA	p.G39G	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGCTGCGGGAAAAGTGCCA	0.502000													15	41					0	0	0.004990	0	0
MIPOL1	145282	broad.mit.edu	37	14	38016157	38016157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr14:38016157C>T	ENST00000327441.7	+	14	1776	c.1310C>T	c.(1309-1311)aCc>aTc	p.T437I	MIPOL1_ENST00000536774.1_Missense_Mutation_p.T256I|MIPOL1_ENST00000539062.2_Missense_Mutation_p.T406I|MIPOL1_ENST00000537471.1_Missense_Mutation_p.T437I|MIPOL1_ENST00000396294.2_Missense_Mutation_p.T437I	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	437										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GGAACCGGGACCATGAGGACA	0.483000													18	28					0	0	0.007413	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129032	99129032	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:99129032G>A	ENST00000394170.2	+	7	1931	c.1680G>A	c.(1678-1680)caG>caA	p.Q560Q	ZKSCAN5_ENST00000326775.5_Silent_p.Q560Q|ZKSCAN5_ENST00000451158.1_Silent_p.Q560Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	560					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)					GCTTCATTCAGAGTGCACATC	0.438000													9	23					0	0	0.006214	0	0
TEKT5	146279	broad.mit.edu	37	16	10729637	10729637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:10729637C>T	ENST00000283025.2	-	6	1296	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	409					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGCGGGATGTCCCTGCACAGC	0.632000													51	77					0	0	0.003610	0	0
OR2M2	391194	broad.mit.edu	37	1	248343973	248343973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:248343973G>A	ENST00000359682.2	+	1	686	c.686G>A	c.(685-687)gGa>gAa	p.G229E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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)			ATTCACATGGGATCTGGAGAG	0.458000													30	59					0	0	0.004878	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589046	140589046	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:140589046G>A	ENST00000239450.2	+	1	756	c.567G>A	c.(565-567)agG>agA	p.R189R	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		189	Cadherin 2.				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)			CAGACAATAGGAAATACCCTG	0.458000													16	27					0	0	0.004007	0	0
CYP4X1	260293	broad.mit.edu	37	1	47498960	47498960	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr1:47498960C>T	ENST00000371901.3	+	4	662	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R137C	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	138						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						CCAGCATCGTCGCCTACTAAC	0.428000													18	31					0	0	0.006122	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54913431	54913431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:54913431C>T	ENST00000474759.1	+	20	1885	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P613S|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P613S|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P519S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	613						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)		CAAGGGTACTCCTTTCAGGTA	0.383000													74	23					0	0	0.003610	0	0
SCN10A	6336	broad.mit.edu	37	3	38753715	38753715	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:38753715G>A	ENST00000449082.2	-	22	4025	c.4026C>T	c.(4024-4026)ttC>ttT	p.F1342F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1342					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)	CATTGACCCAGAAGAAGCTGC	0.428000													42	87					0	0	0.008740	0	0
NUP210	23225	broad.mit.edu	37	3	13381751	13381751	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:13381751G>A	ENST00000254508.5	-	24	3358	c.3276C>T	c.(3274-3276)atC>atT	p.I1092I	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1092					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCGTGGCCCCGATAAGCAGTG	0.642000													25	24					0	0	0.001786	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416333	5416333	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr18:5416333G>A	ENST00000341928.2	-	13	1891	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Silent_p.S517S|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	517	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CACAATGGGTGGATGGGGGTG	0.542000													21	44					0	0	0.001882	0	0
STC2	8614	broad.mit.edu	37	5	172752949	172752949	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:172752949C>T	ENST00000265087.4	-	2	1525	c.216G>A	c.(214-216)gaG>gaA	p.E72E		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	72					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGAGTTGTTCTCGAAACATT	0.438000													108	150					0	0	0.003610	0	0
FAM118B	79607	broad.mit.edu	37	11	126124266	126124266	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:126124266C>T	ENST00000533050.1	+	6	1127	c.634C>T	c.(634-636)Cct>Tct	p.P212S	FAM118B_ENST00000525728.1_3'UTR|FAM118B_ENST00000360194.4_Missense_Mutation_p.P212S	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	212										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		CTACACCAACCCTAGTGGCAT	0.532000													31	18					0	0	0.002445	0	0
IL7R	3575	broad.mit.edu	37	5	35874551	35874551	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:35874551G>A	ENST00000303115.3	+	6	836	c.706_splice	c.e6-1	p.G236_splice	IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	236					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)			TGCTTTCCAGGGGAGATGGAT	0.453000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						16	46					0	0	0.004007	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236556	103236556	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:103236556G>A	ENST00000233969.2	+	1	391	c.249G>A	c.(247-249)gaG>gaA	p.E83E		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	83						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						TCCCCTTCGAGATCACCCTTT	0.637000													15	17					0	0	0.006122	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032478	21032478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:21032478C>T	ENST00000381545.3	+	11	1463	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S415L|LST3_ENST00000540229.1_Missense_Mutation_p.S415L|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S415L|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	415					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			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)					TTTCTTACTTCGATGATATCC	0.343000													28	37					0	0	0.005443	0	0
ANO2	57101	broad.mit.edu	37	12	5756941	5756941	+	Silent	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:5756941C>T	ENST00000546188.1	-	16	1646	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	ANO2_ENST00000356134.5_Silent_p.K525K|ANO2_ENST00000327087.8_Silent_p.K524K|ANO2_ENST00000538154.1_5'UTR			Q9NQ90	ANO2_HUMAN	anoctamin 2	529						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						GGAAACGATCCTTCCAGGTCA	0.433000													6	11					0	0	0.003080	0	0
MGAM	8972	broad.mit.edu	37	7	141758028	141758028	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:141758028C>G	ENST00000475668.2	+	31	3773	c.3719C>G	c.(3718-3720)cCt>cGt	p.P1240R	MGAM_ENST00000549489.2_Missense_Mutation_p.P1240R			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1240	Glucoamylase.				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)	GTGATGGTACCTTACTGGTCT	0.443000													137	326					0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166999147	166999147	+	Missense_Mutation	SNP	G	G	A	rs150952504		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:166999147G>A	ENST00000061240.2	+	18	3054	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	TLL1_ENST00000507499.1_Missense_Mutation_p.E826K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	803	CUB 4.				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)		ATGCACTTGGGAAATCAGCGC	0.488000													11	43					0	0	0.000978	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013243	142013243	+	RNA	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr7:142013243G>A	ENST00000390357.3	+	0	127																											CTGGTCATGGGAATGACAAAT	0.458000													19	28					0	0	0.001882	0	0
PFKFB1	5207	broad.mit.edu	37	X	54978347	54978347	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:54978347G>A	ENST00000375006.3	-	8	907	c.837C>T	c.(835-837)cgC>cgT	p.R279R	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.R214R	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	279	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCTGCTTGCCGCGAACTGAGA	0.592000													5	6					0	0	0.000602	0	0
DNAH2	146754	broad.mit.edu	37	17	7682565	7682565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:7682565G>A	ENST00000572933.1	+	36	7006	c.5546G>A	c.(5545-5547)gGa>gAa	p.G1849E	DNAH2_ENST00000389173.2_Missense_Mutation_p.G1849E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1849	AAA 1 (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)				CCGCAGACTGGAGCTTGGGGC	0.572000													8	5					0	0	0.006214	0	0
MTUS2	23281	broad.mit.edu	37	13	29599548	29599548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:29599548G>A	ENST00000431530.3	+	1	801	c.743G>A	c.(742-744)gGa>gAa	p.G248E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	238						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						ACCTCAGAGGGAAAGAGTGTG	0.577000													13	16					0	0	0.001368	0	0
KLHL4	56062	broad.mit.edu	37	X	86868974	86868974	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:86868974G>A	ENST00000373119.4	+	2	662	c.517G>A	c.(517-519)Gag>Aag	p.E173K	KLHL4_ENST00000373114.4_Missense_Mutation_p.E173K	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	173						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						TCGTAAAATGGAGAACTACTT	0.408000													27	37					0	0	0.006320	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528801	77528801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chrX:77528801C>T	ENST00000373304.3	-	3	735	c.443G>A	c.(442-444)tGg>tAg	p.W148*		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	148					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CACAAAAATCCAAATACCTAC	0.383000													14	19					0	0	0.002450	0	0
ADGRG6	57211	broad.mit.edu	37	6	142737093	142737093	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr6:142737093A>G	ENST00000230173.6	+	20	3306	c.2830A>G	c.(2830-2832)Acc>Gcc	p.T944A	GPR126_ENST00000296932.8_Missense_Mutation_p.T916A|GPR126_ENST00000367609.3_Missense_Mutation_p.T944A|GPR126_ENST00000367608.2_Missense_Mutation_p.T916A	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	944					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CCTTCTGGCAACCTTTACCTG	0.428000													55	23					0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52370162	52370162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:52370162C>T	ENST00000356297.4	-	9	978	c.878G>A	c.(877-879)cGa>cAa	p.R293Q	PXDNL_ENST00000543296.1_Missense_Mutation_p.R293Q	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	293	Ig-like C2-type 1.				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)				TCTGGTGTTTCGGATCATGAG	0.428000													62	93					0	0	0.003610	0	0
ZNF718	255403	broad.mit.edu	37	4	155366	155366	+	RNA	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr4:155366C>T	ENST00000510175.1	+	0	801							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GGTCCTCATCCCTTAATGAAC	0.368000													8	5					0	0	0.003080	0	0
BRD4	23476	broad.mit.edu	37	19	15350486	15350486	+	Silent	SNP	G	G	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:15350486G>A	ENST00000263377.2	-	16	3650	c.3429C>T	c.(3427-3429)ccC>ccT	p.P1143P		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1143					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)			GCAGGTGGACGGGGGCCTTGA	0.682000			T	C15orf55	lethal midline carcinoma of young people								24	11					0	0	0.003330	0	0
ANKAR	150709	broad.mit.edu	37	2	190554657	190554657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr2:190554657C>T	ENST00000520309.1	+	3	1094	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.P265S|ANKAR_ENST00000281412.6_Missense_Mutation_p.P100S|ANKAR_ENST00000438402.2_Missense_Mutation_p.P336S|ANKAR_ENST00000313581.4_Missense_Mutation_p.P336S	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	336						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AATGAAAGTTCCATATTTAAG	0.269000													28	46					0	0	0.007291	0	0
MED12L	116931	broad.mit.edu	37	3	151134124	151134124	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:151134124C>T	ENST00000474524.1	+	41	6255	c.6217C>T	c.(6217-6219)Ccc>Tcc	p.P2073S	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2073	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)			gcagccccagccccagcagcc	0.542000													27	4					0	0	0.003954	0	0
CD44	960	broad.mit.edu	37	11	35236416	35236416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr11:35236416C>T	ENST00000263398.6	+	6	1119	c.685C>T	c.(685-687)Cac>Tac	p.H229Y	CD44_ENST00000360158.4_Missense_Mutation_p.H264Y|CD44_ENST00000449691.2_Missense_Mutation_p.H567Y|CD44_ENST00000437706.2_Missense_Mutation_p.H542Y|CD44_ENST00000433892.2_Missense_Mutation_p.H361Y|CD44_ENST00000433354.2_Missense_Mutation_p.H582Y|CD44_ENST00000428726.2_Missense_Mutation_p.H610Y|CD44_ENST00000434472.2_Missense_Mutation_p.H297Y|CD44_ENST00000415148.2_Missense_Mutation_p.H567Y|CD44_ENST00000352818.4_Intron|CD44_ENST00000278386.6_Intron|RP1-68D18.4_ENST00000528869.1_RNA|CD44_ENST00000526669.2_Intron	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	610	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGACACATTCCACCCCAGTGG	0.418000													16	27					0	0	0.004990	0	0
CPAMD8	27151	broad.mit.edu	37	19	17015360	17015360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:17015360C>T	ENST00000443236.1	-	31	4202	c.4171G>A	c.(4171-4173)Ggg>Agg	p.G1391R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1344						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						TGGGTGACCCCATCTGCAAGG	0.542000													20	10					0	0	0.007413	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377731	113377741	+	Frame_Shift_Del	DEL	TCTGATAATGC	TCTGATAATGC	-			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr3:113377731_113377741delTCTGATAATGC	ENST00000316407.4	-	7	3198_3208	c.2788_2798delGCATTATCAGA	c.(2788-2799)tfs	p.ALSD930fs	KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.ALSD930fs|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	930					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTTGGCAGCATCTGATAATGCTAAACTACTT	0.422													26	25	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					6	3	---	---	---	---					
BAI1	575	broad.mit.edu	37	8	143561149	143561149	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr8:143561149delG	ENST00000517894.1	+	9	2716	c.1822delG	c.(1822-1824)ccfs	p.A608fs	BAI1_ENST00000323289.5_Frame_Shift_Del_p.A608fs			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	608					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCCCGCAACGCCACAGGTGA	0.647													39	91	---	---	---	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)del	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443													7	322	---	---	---	---					
GOLGA2P5	55592	broad.mit.edu	37	12	100562921	100562921	+	RNA	DEL	T	T	-			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr12:100562921delT	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GTCTCATTTGTTTTttttttt	0.403													3	3	---	---	---	---					
TSC22D1	8848	broad.mit.edu	37	13	45148703	45148708	+	In_Frame_Del	DEL	TGTTGC	TGTTGC	-	rs112613609		TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr13:45148703_45148708delTGTTGC	ENST00000458659.2	-	1	1993_1998	c.1503_1508delGCAACA	c.(1501-1509)caa>ca	p.QQQ507del	TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	507	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgttgctgctgctgct	0.510													8	98	---	---	---	---					
CNOT1	23019	broad.mit.edu	37	16	58589801	58589802	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr16:58589801_58589802insA	ENST00000317147.5	-	20	2822_2823	c.2490_2491insT	c.(2488-2493)tcaggtfs	p.G831fs	CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.G831fs|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.G826fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	831					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)		GGCCACACCTGAGACAAGTCCG	0.441													28	43	---	---	---	---					
HSF5	124535	broad.mit.edu	37	17	56565433	56565434	+	In_Frame_Ins	INS	-	-	CGGCCC			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr17:56565433_56565434insCGGCCC	ENST00000323777.3	-	1	311_312	c.202_203insGGGCCG	c.(202-204)gcc>GGGCCGgcc	p.67_68insGP		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	67						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGCTCGGGCTcggccccggcc	0.723													7	25	---	---	---	---					
CYTH2	9266	broad.mit.edu	37	19	48981352	48981352	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A29H-06A-12D-A197-08	TCGA-EE-A29H-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c2bfe73-69c6-40ee-8413-6981bbfadf69	01995ac3-c8a8-4527-bfc8-650b49d3dc81	g.chr19:48981352delC	ENST00000427476.1	+	9	1138	c.838delC	c.(838-840)gcfs	p.R280fs	CYTH2_ENST00000452733.2_Frame_Shift_Del_p.R279fs	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	280	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTGGAAGCGGCGCTGGTTTAT	0.657													40	11	---	---	---	---